SCV stringlengths 12 12 | VCV stringlengths 12 12 | RCV stringlengths 12 12 | VariationID int64 4 3.9M | HGVS_VariantDescription stringlengths 33 112 | GRCh38_Chr stringclasses 24
values | GRCh38_Start float64 14.8k 249M | GRCh38_Stop float64 14.8k 249M | GRCh38_ReferenceAllele stringclasses 16
values | GRCh38_AlternateAllele stringclasses 167
values | VariantClassification stringclasses 64
values | SubmissionClassification stringclasses 17
values | Submitter stringlengths 4 241 | Gene stringlengths 1 21 ⌀ | Comment stringlengths 35 43.4k | DateLastEvaluated stringdate 1965-01-01 00:00:00 2025-05-29 00:00:00 ⌀ | SubmissionDateLastEvaluated stringdate 1965-01-01 00:00:00 2025-05-28 00:00:00 ⌀ | SubmissionReviewStatus stringclasses 5
values | VariantAssertion stringclasses 5
values | gene stringlengths 2 15 | aapos int64 1 36k | aaref stringclasses 21
values | aaalt stringclasses 23
values | evidence_type stringclasses 3
values | final_label stringclasses 5
values | has_evidence bool 2
classes | evidence_confidence float32 0 1 | predicted_evidence stringclasses 4
values | P_Score float32 0 1 | B_Score float32 0 1 | sentence_index int64 0 275 | sentence stringlengths 0 2.79k | stage1_score float32 0 1 | stage1_label stringclasses 2
values | stage2_benign_score float32 0 1 | stage2_pathogenic_score float32 0 1 | predicted_evidence_sentence stringclasses 5
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCV000020230 | VCV000000069 | RCV000000087 | 69 | NM_000374.5(UROD):c.874C>G (p.Arg292Gly) | 1 | 45,014,835 | 45,014,835 | C | G | Pathogenic | pathogenic | OMIM | UROD | In 2 Dutch sisters with hepatoerythropoietic porphyria (HEP; see 176100), de Verneuil et al. (1992) demonstrated compound heterozygosity for a deletion inherited from the father and an R292G mutation inherited from the mother. | 1992-07-01 | 1992-07-01 | no assertion criteria provided | variation to disease | UROD | 292 | R | G | functional | null | false | 0.0463 | null | 0 | 0 | 0 | In 2 Dutch sisters with hepatoerythropoietic porphyria (HEP; see 176100), de Verneuil et al. | 0.0282 | no_evidence | 0 | 0 | None |
SCV000020230 | VCV000000069 | RCV000000087 | 69 | NM_000374.5(UROD):c.874C>G (p.Arg292Gly) | 1 | 45,014,835 | 45,014,835 | C | G | Pathogenic | pathogenic | OMIM | UROD | In 2 Dutch sisters with hepatoerythropoietic porphyria (HEP; see 176100), de Verneuil et al. (1992) demonstrated compound heterozygosity for a deletion inherited from the father and an R292G mutation inherited from the mother. | 1992-07-01 | 1992-07-01 | no assertion criteria provided | variation to disease | UROD | 292 | R | G | functional | null | false | 0.0463 | null | 0 | 0 | 1 | (1992) demonstrated compound heterozygosity for a deletion inherited from the father and an R292G mutation inherited from the mother. | 0.0463 | no_evidence | 0 | 0 | None |
SCV000020455 | VCV000000287 | RCV000000311 | 287 | NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) | 12 | 6,019,479 | 6,019,479 | C | G | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,313 | W | C | functional | null | false | 0.1913 | null | 0 | 0 | 0 | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 0.0207 | no_evidence | 0 | 0 | None |
SCV000020455 | VCV000000287 | RCV000000311 | 287 | NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) | 12 | 6,019,479 | 6,019,479 | C | G | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,313 | W | C | functional | null | false | 0.1913 | null | 0 | 0 | 1 | Thus, the mutation originally designated TRP550CYS is now designated TRP1313CYS (W1313C). | 0.0385 | no_evidence | 0 | 0 | None |
SCV000020455 | VCV000000287 | RCV000000311 | 287 | NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) | 12 | 6,019,479 | 6,019,479 | C | G | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,313 | W | C | functional | null | false | 0.1913 | null | 0 | 0 | 2 | In the patient identified as case 7 in the report by Kyrle et al. | 0.0824 | no_evidence | 0 | 0 | None |
SCV000020455 | VCV000000287 | RCV000000311 | 287 | NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) | 12 | 6,019,479 | 6,019,479 | C | G | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,313 | W | C | functional | null | false | 0.1913 | null | 0 | 0 | 3 | (1988) with laboratory findings consistent with the diagnosis of type 2B von Willebrand disease (see 613554), Ware et al. | 0.1913 | no_evidence | 0 | 0 | None |
SCV000020455 | VCV000000287 | RCV000000311 | 287 | NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) | 12 | 6,019,479 | 6,019,479 | C | G | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,313 | W | C | functional | null | false | 0.1913 | null | 0 | 0 | 4 | The mutation is located in the domain of the molecule comprising residues 449 to 728 involved in the binding to platelet glycoprotein Ib-IX receptor complex (see 606672). | 0.0279 | no_evidence | 0 | 0 | None |
SCV000020455 | VCV000000287 | RCV000000311 | 287 | NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) | 12 | 6,019,479 | 6,019,479 | C | G | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,313 | W | C | functional | null | false | 0.1913 | null | 0 | 0 | 5 | This interaction is physiologically regulated so that it does not occur between circulating VWF and platelets but, rather, only at a site of vascular injury. | 0.0194 | no_evidence | 0 | 0 | None |
SCV000020455 | VCV000000287 | RCV000000311 | 287 | NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) | 12 | 6,019,479 | 6,019,479 | C | G | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,313 | W | C | functional | null | false | 0.1913 | null | 0 | 0 | 6 | The abnormal VWF found in type 2B von Willebrand disease has a characteristically increased affinity for GP Ib and binds to the circulating platelets. | 0.0913 | no_evidence | 0 | 0 | None |
SCV000020475 | VCV000000304 | RCV000000331 | 304 | NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) | 12 | 6,018,877 | 6,018,877 | A | C | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,514 | F | C | functional | null | false | 0.6494 | null | 0 | 0 | 0 | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 0.0207 | no_evidence | 0 | 0 | None |
SCV000020475 | VCV000000304 | RCV000000331 | 304 | NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) | 12 | 6,018,877 | 6,018,877 | A | C | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,514 | F | C | functional | null | false | 0.6494 | null | 0 | 0 | 1 | Thus, the mutation originally designated PHE751CYS is now designated PHE1514CYS (F1514C). | 0.0335 | no_evidence | 0 | 0 | None |
SCV000020475 | VCV000000304 | RCV000000331 | 304 | NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) | 12 | 6,018,877 | 6,018,877 | A | C | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,514 | F | C | functional | null | false | 0.6494 | null | 0 | 0 | 2 | In 8 patients from a large type 2A (see 613554) von Willebrand disease family, Gaucher et al. | 0.0162 | no_evidence | 0 | 0 | None |
SCV000020475 | VCV000000304 | RCV000000331 | 304 | NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) | 12 | 6,018,877 | 6,018,877 | A | C | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,514 | F | C | functional | null | false | 0.6494 | null | 0 | 0 | 3 | (1993) found a heterozygous T-to-G transversion resulting in a phe751-to-cys (F751C) substitution in the mature subunit. | 0.0452 | no_evidence | 0 | 0 | None |
SCV000020475 | VCV000000304 | RCV000000331 | 304 | NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) | 12 | 6,018,877 | 6,018,877 | A | C | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,514 | F | C | functional | null | false | 0.6494 | null | 0 | 0 | 4 | Type 2A is a variant form of von Willebrand disease characterized by the absence of high molecular weight VWF multimers in plasma. | 0.035 | no_evidence | 0 | 0 | None |
SCV000020475 | VCV000000304 | RCV000000331 | 304 | NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) | 12 | 6,018,877 | 6,018,877 | A | C | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,514 | F | C | functional | null | false | 0.6494 | null | 0 | 0 | 5 | (1993) noted that most of the candidate missense mutations potentially responsible for type 2A VWD have been found clustered within a short segment of VWF, lying between gly742 and glu875 of the mature subunit. | 0.0153 | no_evidence | 0 | 0 | None |
SCV000020475 | VCV000000304 | RCV000000331 | 304 | NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) | 12 | 6,018,877 | 6,018,877 | A | C | Pathogenic | pathogenic | OMIM | VWF | Goodeve (2010) noted that mutations in the VWF gene, which were sometimes numbered from the transcription start site of the mature protein, are now 'numbered from the first A of the ATG initiator methionine codon (A = +1) at the start of every protein (Met = +1), with cDNA rather than genomic DNA being commonly used as... | 2010-05-01 | 2010-05-01 | no assertion criteria provided | variation to disease | VWF | 1,514 | F | C | functional | null | false | 0.6494 | null | 0 | 0 | 6 | (1993) suggested that the mutation may induce a conformational change of the VWF subunit affecting either its sensitivity to proteolytic cleavage or, more likely, its intracellular transport as suggested by the abnormal multimeric pattern of platelet VWF observed in these patients. | 0.6494 | no_evidence | 0 | 0 | None |
SCV000020476 | VCV000000305 | RCV000000332 | 305 | NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) | 12 | 6,057,930 | 6,057,930 | C | T | Pathogenic | pathogenic | OMIM | VWF | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. The proband had frequent epistaxis, easy bruising, and menorrhagi... | 2006-10-01 | 2006-10-01 | no assertion criteria provided | variation to disease | VWF | 550 | G | R | functional | null | false | 0.0938 | null | 0 | 0 | 0 | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. | 0.0278 | no_evidence | 0 | 0 | None |
SCV000020476 | VCV000000305 | RCV000000332 | 305 | NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) | 12 | 6,057,930 | 6,057,930 | C | T | Pathogenic | pathogenic | OMIM | VWF | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. The proband had frequent epistaxis, easy bruising, and menorrhagi... | 2006-10-01 | 2006-10-01 | no assertion criteria provided | variation to disease | VWF | 550 | G | R | functional | null | false | 0.0938 | null | 0 | 0 | 1 | (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. | 0.0085 | no_evidence | 0 | 0 | None |
SCV000020476 | VCV000000305 | RCV000000332 | 305 | NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) | 12 | 6,057,930 | 6,057,930 | C | T | Pathogenic | pathogenic | OMIM | VWF | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. The proband had frequent epistaxis, easy bruising, and menorrhagi... | 2006-10-01 | 2006-10-01 | no assertion criteria provided | variation to disease | VWF | 550 | G | R | functional | null | false | 0.0938 | null | 0 | 0 | 2 | The proband had frequent epistaxis, easy bruising, and menorrhagia, and laboratory studies showed decreased VWF activity and decreased levels of high molecular weight multimers. | 0.0248 | no_evidence | 0 | 0 | None |
SCV000020476 | VCV000000305 | RCV000000332 | 305 | NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) | 12 | 6,057,930 | 6,057,930 | C | T | Pathogenic | pathogenic | OMIM | VWF | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. The proband had frequent epistaxis, easy bruising, and menorrhagi... | 2006-10-01 | 2006-10-01 | no assertion criteria provided | variation to disease | VWF | 550 | G | R | functional | null | false | 0.0938 | null | 0 | 0 | 3 | The subtype of VWD was originally referred to as 'type IIC,' which shows recessive inheritance and an altered multimer pattern. | 0.067 | no_evidence | 0 | 0 | None |
SCV000020476 | VCV000000305 | RCV000000332 | 305 | NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) | 12 | 6,057,930 | 6,057,930 | C | T | Pathogenic | pathogenic | OMIM | VWF | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. The proband had frequent epistaxis, easy bruising, and menorrhagi... | 2006-10-01 | 2006-10-01 | no assertion criteria provided | variation to disease | VWF | 550 | G | R | functional | null | false | 0.0938 | null | 0 | 0 | 4 | Further family members were heterozygous for the mutation and were phenotypically normal or only mildly affected, in accordance with the recessive pattern of inheritance. | 0.0074 | no_evidence | 0 | 0 | None |
SCV000020476 | VCV000000305 | RCV000000332 | 305 | NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) | 12 | 6,057,930 | 6,057,930 | C | T | Pathogenic | pathogenic | OMIM | VWF | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. The proband had frequent epistaxis, easy bruising, and menorrhagi... | 2006-10-01 | 2006-10-01 | no assertion criteria provided | variation to disease | VWF | 550 | G | R | functional | null | false | 0.0938 | null | 0 | 0 | 5 | (2006) stated that the subtype previously known as VWD IIC is due to mutations in the VWF propeptide that prevent multimerization of VWF in the Golgi apparatus. | 0.0938 | no_evidence | 0 | 0 | None |
SCV000020476 | VCV000000305 | RCV000000332 | 305 | NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) | 12 | 6,057,930 | 6,057,930 | C | T | Pathogenic | pathogenic | OMIM | VWF | In a German woman with von Willebrand disease type 2 (613554), referred to as type IIC, Schneppenheim et al. (1995) identified a homozygous 1898G-A transition in exon 14 of the VWF gene, resulting in a gly550-to-arg (G550R) substitution in the D2 domain. The proband had frequent epistaxis, easy bruising, and menorrhagi... | 2006-10-01 | 2006-10-01 | no assertion criteria provided | variation to disease | VWF | 550 | G | R | functional | null | false | 0.0938 | null | 0 | 0 | 6 | This form is now referred to as VWD type 2A. | 0.0626 | no_evidence | 0 | 0 | None |
SCV000020488 | VCV000000316 | RCV000000344 | 316 | NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) | 12 | 6,072,369 | 6,072,369 | G | T | Pathogenic | pathogenic | OMIM | VWF | In a 20-year-old French woman with VWD type 2N (see 613554), Mazurier et al. (2002) identified compound heterozygosity for 2 mutations in the VWF gene: a 1071C-A transversion in exon 9, resulting in a tyr357-to-ter (Y357X) substitution, and a 3178T-C transition in exon 24, resulting in a cys1060-to-arg (C1060R; 613160.... | 2002-11-01 | 2002-11-01 | no assertion criteria provided | variation to disease | VWF | 357 | Y | X | functional | null | false | 0.067 | null | 0 | 0 | 0 | In a 20-year-old French woman with VWD type 2N (see 613554), Mazurier et al. | 0.067 | no_evidence | 0 | 0 | None |
SCV000020488 | VCV000000316 | RCV000000344 | 316 | NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) | 12 | 6,072,369 | 6,072,369 | G | T | Pathogenic | pathogenic | OMIM | VWF | In a 20-year-old French woman with VWD type 2N (see 613554), Mazurier et al. (2002) identified compound heterozygosity for 2 mutations in the VWF gene: a 1071C-A transversion in exon 9, resulting in a tyr357-to-ter (Y357X) substitution, and a 3178T-C transition in exon 24, resulting in a cys1060-to-arg (C1060R; 613160.... | 2002-11-01 | 2002-11-01 | no assertion criteria provided | variation to disease | VWF | 357 | Y | X | functional | null | false | 0.067 | null | 0 | 0 | 1 | (2002) identified compound heterozygosity for 2 mutations in the VWF gene: a 1071C-A transversion in exon 9, resulting in a tyr357-to-ter (Y357X) substitution, and a 3178T-C transition in exon 24, resulting in a cys1060-to-arg (C1060R; 613160.0036) substitution. | 0.0179 | no_evidence | 0 | 0 | None |
SCV000020488 | VCV000000316 | RCV000000344 | 316 | NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) | 12 | 6,072,369 | 6,072,369 | G | T | Pathogenic | pathogenic | OMIM | VWF | In a 20-year-old French woman with VWD type 2N (see 613554), Mazurier et al. (2002) identified compound heterozygosity for 2 mutations in the VWF gene: a 1071C-A transversion in exon 9, resulting in a tyr357-to-ter (Y357X) substitution, and a 3178T-C transition in exon 24, resulting in a cys1060-to-arg (C1060R; 613160.... | 2002-11-01 | 2002-11-01 | no assertion criteria provided | variation to disease | VWF | 357 | Y | X | functional | null | false | 0.067 | null | 0 | 0 | 2 | The authors noted that the Y357X mutation is a type 3 mutation (277480) presumably because it represents a truncating mutation and lack of protein expression. | 0.0192 | no_evidence | 0 | 0 | None |
SCV000020488 | VCV000000316 | RCV000000344 | 316 | NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) | 12 | 6,072,369 | 6,072,369 | G | T | Pathogenic | pathogenic | OMIM | VWF | In a 20-year-old French woman with VWD type 2N (see 613554), Mazurier et al. (2002) identified compound heterozygosity for 2 mutations in the VWF gene: a 1071C-A transversion in exon 9, resulting in a tyr357-to-ter (Y357X) substitution, and a 3178T-C transition in exon 24, resulting in a cys1060-to-arg (C1060R; 613160.... | 2002-11-01 | 2002-11-01 | no assertion criteria provided | variation to disease | VWF | 357 | Y | X | functional | null | false | 0.067 | null | 0 | 0 | 3 | The patient had very low levels of VWF and F8, and absent binding of VWF to F8. | 0.037 | no_evidence | 0 | 0 | None |
SCV000020488 | VCV000000316 | RCV000000344 | 316 | NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) | 12 | 6,072,369 | 6,072,369 | G | T | Pathogenic | pathogenic | OMIM | VWF | In a 20-year-old French woman with VWD type 2N (see 613554), Mazurier et al. (2002) identified compound heterozygosity for 2 mutations in the VWF gene: a 1071C-A transversion in exon 9, resulting in a tyr357-to-ter (Y357X) substitution, and a 3178T-C transition in exon 24, resulting in a cys1060-to-arg (C1060R; 613160.... | 2002-11-01 | 2002-11-01 | no assertion criteria provided | variation to disease | VWF | 357 | Y | X | functional | null | false | 0.067 | null | 0 | 0 | 4 | The diagnosis was complicated at first because 2 male first cousins had F8 deficiency (306700) due to a hemizygous mutation in the F8 gene (C179G; 300841.0268). | 0.0154 | no_evidence | 0 | 0 | None |
SCV000020491 | VCV000000319 | RCV000000347 | 319 | NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) | 7 | 120,788,801 | 120,788,801 | C | G | Pathogenic | pathogenic | OMIM | TSPAN12 | In affected members of 4 unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy-5 (EVR5; 613310), Nikopoulos et al. (2010) identified heterozygosity for a 709G-C transversion in exon 8 of the TSPAN12 gene, resulting in an ala237-to-pro (A237P) substitution at a highly conserved residue in a... | 2010-02-12 | 2010-02-12 | no assertion criteria provided | variation to disease | TSPAN12 | 237 | A | P | functional | null | false | 0.0164 | null | 0 | 0 | 0 | In affected members of 4 unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy-5 (EVR5; 613310), Nikopoulos et al. | 0.0164 | no_evidence | 0 | 0 | None |
SCV000020491 | VCV000000319 | RCV000000347 | 319 | NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) | 7 | 120,788,801 | 120,788,801 | C | G | Pathogenic | pathogenic | OMIM | TSPAN12 | In affected members of 4 unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy-5 (EVR5; 613310), Nikopoulos et al. (2010) identified heterozygosity for a 709G-C transversion in exon 8 of the TSPAN12 gene, resulting in an ala237-to-pro (A237P) substitution at a highly conserved residue in a... | 2010-02-12 | 2010-02-12 | no assertion criteria provided | variation to disease | TSPAN12 | 237 | A | P | functional | null | false | 0.0164 | null | 0 | 0 | 1 | (2010) identified heterozygosity for a 709G-C transversion in exon 8 of the TSPAN12 gene, resulting in an ala237-to-pro (A237P) substitution at a highly conserved residue in an alpha-helical structure within the fourth transmembrane domain. | 0.0053 | no_evidence | 0 | 0 | None |
SCV000020491 | VCV000000319 | RCV000000347 | 319 | NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) | 7 | 120,788,801 | 120,788,801 | C | G | Pathogenic | pathogenic | OMIM | TSPAN12 | In affected members of 4 unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy-5 (EVR5; 613310), Nikopoulos et al. (2010) identified heterozygosity for a 709G-C transversion in exon 8 of the TSPAN12 gene, resulting in an ala237-to-pro (A237P) substitution at a highly conserved residue in a... | 2010-02-12 | 2010-02-12 | no assertion criteria provided | variation to disease | TSPAN12 | 237 | A | P | functional | null | false | 0.0164 | null | 0 | 0 | 2 | The mutation was not detected in 140 ethnically matched controls, but was found in 3 relatives of uncertain clinical status and in 1 healthy individual, suggesting nonpenetrance. | 0.0045 | no_evidence | 0 | 0 | None |
SCV000020491 | VCV000000319 | RCV000000347 | 319 | NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) | 7 | 120,788,801 | 120,788,801 | C | G | Pathogenic | pathogenic | OMIM | TSPAN12 | In affected members of 4 unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy-5 (EVR5; 613310), Nikopoulos et al. (2010) identified heterozygosity for a 709G-C transversion in exon 8 of the TSPAN12 gene, resulting in an ala237-to-pro (A237P) substitution at a highly conserved residue in a... | 2010-02-12 | 2010-02-12 | no assertion criteria provided | variation to disease | TSPAN12 | 237 | A | P | functional | null | false | 0.0164 | null | 0 | 0 | 3 | Genealogic analysis revealed that ancestors of 3 of the 4 families were born in the same eastern region of The Netherlands, and microsatellite marker analysis demonstrated a shared haplotype among all 4 families, suggesting that A237P is a regional founder mutation. | 0.0059 | no_evidence | 0 | 0 | None |
SCV000020565 | VCV000000390 | RCV000000421 | 390 | NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) | 5 | 151,266,899 | 151,266,899 | T | C | Pathogenic | pathogenic | OMIM | GM2A | In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. (1975), Schroder et al. (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2... | 1992-05-01 | 1992-05-01 | no assertion criteria provided | variation to disease | GM2A | 138 | C | R | functional | PS3 | true | 0.9962 | PS3 | 0.9939 | 0 | 0 | In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. | 0.2593 | no_evidence | 0 | 0 | None |
SCV000020565 | VCV000000390 | RCV000000421 | 390 | NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) | 5 | 151,266,899 | 151,266,899 | T | C | Pathogenic | pathogenic | OMIM | GM2A | In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. (1975), Schroder et al. (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2... | 1992-05-01 | 1992-05-01 | no assertion criteria provided | variation to disease | GM2A | 138 | C | R | functional | PS3 | true | 0.9962 | PS3 | 0.9939 | 0 | 1 | (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2A gene, resulting in a cys107-to-arg (C107R) substitution in the mature protein. | 0.0091 | no_evidence | 0 | 0 | None |
SCV000020565 | VCV000000390 | RCV000000421 | 390 | NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) | 5 | 151,266,899 | 151,266,899 | T | C | Pathogenic | pathogenic | OMIM | GM2A | In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. (1975), Schroder et al. (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2... | 1992-05-01 | 1992-05-01 | no assertion criteria provided | variation to disease | GM2A | 138 | C | R | functional | PS3 | true | 0.9962 | PS3 | 0.9939 | 0 | 2 | (1992) found the same mutation, which resulted in a cys138-to-arg (C138R) substitution in a different numbering system. | 0.0164 | no_evidence | 0 | 0 | None |
SCV000020565 | VCV000000390 | RCV000000421 | 390 | NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) | 5 | 151,266,899 | 151,266,899 | T | C | Pathogenic | pathogenic | OMIM | GM2A | In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. (1975), Schroder et al. (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2... | 1992-05-01 | 1992-05-01 | no assertion criteria provided | variation to disease | GM2A | 138 | C | R | functional | PS3 | true | 0.9962 | PS3 | 0.9939 | 0 | 3 | Expression studies of the mutant supported the view that the point mutation was responsible for the disease phenotype. | 0.9962 | has_evidence | 0.0061 | 0.9939 | PS3 |
SCV000020565 | VCV000000390 | RCV000000421 | 390 | NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) | 5 | 151,266,899 | 151,266,899 | T | C | Pathogenic | pathogenic | OMIM | GM2A | In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. (1975), Schroder et al. (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2... | 1992-05-01 | 1992-05-01 | no assertion criteria provided | variation to disease | GM2A | 138 | C | R | functional | PS3 | true | 0.9962 | PS3 | 0.9939 | 0 | 4 | (Mahuran (1994) pointed out that the mutations identified by Schroder et al. | 0.7954 | no_evidence | 0 | 0 | None |
SCV000020565 | VCV000000390 | RCV000000421 | 390 | NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) | 5 | 151,266,899 | 151,266,899 | T | C | Pathogenic | pathogenic | OMIM | GM2A | In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. (1975), Schroder et al. (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2... | 1992-05-01 | 1992-05-01 | no assertion criteria provided | variation to disease | GM2A | 138 | C | R | functional | PS3 | true | 0.9962 | PS3 | 0.9939 | 0 | 5 | (1992) (CYS138ARG) are the same but derived from different amino acid numbering systems.) | 0.0053 | no_evidence | 0 | 0 | None |
SCV000020566 | VCV000000391 | RCV000000422 | 391 | NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) | 5 | 151,267,375 | 151,267,375 | G | C | Pathogenic | pathogenic | OMIM | GM2A | In an infant with variant AB of GM2-gangliosidosis (272750), Schroder et al. (1993) identified a 506G-C transversion in the GM2A gene, resulting in substitution of proline for arginine-169 (R169P). The patient was homozygous, whereas both parents were heterozygous. Other studies suggested that the R169P mutation result... | 1993-11-01 | 1993-11-01 | no assertion criteria provided | variation to disease | GM2A | 169 | R | P | functional | PS3 | true | 0.9935 | PS3 | 0.9954 | 0 | 0 | In an infant with variant AB of GM2-gangliosidosis (272750), Schroder et al. | 0.0979 | no_evidence | 0 | 0 | None |
SCV000020566 | VCV000000391 | RCV000000422 | 391 | NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) | 5 | 151,267,375 | 151,267,375 | G | C | Pathogenic | pathogenic | OMIM | GM2A | In an infant with variant AB of GM2-gangliosidosis (272750), Schroder et al. (1993) identified a 506G-C transversion in the GM2A gene, resulting in substitution of proline for arginine-169 (R169P). The patient was homozygous, whereas both parents were heterozygous. Other studies suggested that the R169P mutation result... | 1993-11-01 | 1993-11-01 | no assertion criteria provided | variation to disease | GM2A | 169 | R | P | functional | PS3 | true | 0.9935 | PS3 | 0.9954 | 0 | 1 | (1993) identified a 506G-C transversion in the GM2A gene, resulting in substitution of proline for arginine-169 (R169P). | 0.0217 | no_evidence | 0 | 0 | None |
SCV000020566 | VCV000000391 | RCV000000422 | 391 | NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) | 5 | 151,267,375 | 151,267,375 | G | C | Pathogenic | pathogenic | OMIM | GM2A | In an infant with variant AB of GM2-gangliosidosis (272750), Schroder et al. (1993) identified a 506G-C transversion in the GM2A gene, resulting in substitution of proline for arginine-169 (R169P). The patient was homozygous, whereas both parents were heterozygous. Other studies suggested that the R169P mutation result... | 1993-11-01 | 1993-11-01 | no assertion criteria provided | variation to disease | GM2A | 169 | R | P | functional | PS3 | true | 0.9935 | PS3 | 0.9954 | 0 | 2 | Other studies suggested that the R169P mutation resulted in premature degradation of the mutant GM2 activator, either during the posttranslational processing steps or after reaching the lysosome. | 0.9935 | has_evidence | 0.0046 | 0.9954 | PS3 |
SCV000020566 | VCV000000391 | RCV000000422 | 391 | NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) | 5 | 151,267,375 | 151,267,375 | G | C | Pathogenic | pathogenic | OMIM | GM2A | In an infant with variant AB of GM2-gangliosidosis (272750), Schroder et al. (1993) identified a 506G-C transversion in the GM2A gene, resulting in substitution of proline for arginine-169 (R169P). The patient was homozygous, whereas both parents were heterozygous. Other studies suggested that the R169P mutation result... | 1993-11-01 | 1993-11-01 | no assertion criteria provided | variation to disease | GM2A | 169 | R | P | functional | PS3 | true | 0.9935 | PS3 | 0.9954 | 0 | 3 | With other mutations, the phenotype appears to be due to inactivation of the physiologic activator function. | 0.7562 | no_evidence | 0 | 0 | None |
SCV000020569 | VCV000000394 | RCV000000425 | 394 | NM_000405.5(GM2A):c.160G>T (p.Glu54Ter) | 5 | 151,259,833 | 151,259,833 | G | T | Pathogenic | pathogenic | OMIM | GM2A | Chen et al. (1999) studied a Laotian child with the AB variant form of GM2-gangliosidosis (272750) and identified a 160G-T transversion in the GM2A gene, resulting in a glu54-to-ter (E54X) substitution. | 1999-07-01 | 1999-07-01 | no assertion criteria provided | variation to disease | GM2A | 54 | E | X | functional | null | false | 0.0592 | null | 0 | 0 | 0 | (1999) studied a Laotian child with the AB variant form of GM2-gangliosidosis (272750) and identified a 160G-T transversion in the GM2A gene, resulting in a glu54-to-ter (E54X) substitution. | 0.0592 | no_evidence | 0 | 0 | None |
SCV000020600 | VCV000000423 | RCV000000451 | 423 | NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) | 3 | 49,022,903 | 49,022,903 | G | C | Pathogenic | pathogenic | OMIM | NDUFAF3 | In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. The child was born of consanguineous Arab Musli... | 2009-06-01 | 2009-06-01 | no assertion criteria provided | variation to disease | NDUFAF3 | 122 | R | P | functional | null | false | 0.6318 | null | 0 | 0 | 0 | In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. | 0.1327 | no_evidence | 0 | 0 | None |
SCV000020600 | VCV000000423 | RCV000000451 | 423 | NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) | 3 | 49,022,903 | 49,022,903 | G | C | Pathogenic | pathogenic | OMIM | NDUFAF3 | In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. The child was born of consanguineous Arab Musli... | 2009-06-01 | 2009-06-01 | no assertion criteria provided | variation to disease | NDUFAF3 | 122 | R | P | functional | null | false | 0.6318 | null | 0 | 0 | 1 | (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. | 0.0136 | no_evidence | 0 | 0 | None |
SCV000020600 | VCV000000423 | RCV000000451 | 423 | NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) | 3 | 49,022,903 | 49,022,903 | G | C | Pathogenic | pathogenic | OMIM | NDUFAF3 | In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. The child was born of consanguineous Arab Musli... | 2009-06-01 | 2009-06-01 | no assertion criteria provided | variation to disease | NDUFAF3 | 122 | R | P | functional | null | false | 0.6318 | null | 0 | 0 | 2 | At 3 weeks of age, he became hypoactive and sucked poorly. | 0.6318 | no_evidence | 0 | 0 | None |
SCV000020600 | VCV000000423 | RCV000000451 | 423 | NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) | 3 | 49,022,903 | 49,022,903 | G | C | Pathogenic | pathogenic | OMIM | NDUFAF3 | In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. The child was born of consanguineous Arab Musli... | 2009-06-01 | 2009-06-01 | no assertion criteria provided | variation to disease | NDUFAF3 | 122 | R | P | functional | null | false | 0.6318 | null | 0 | 0 | 3 | Physical examination revealed macrocephaly, a weak cry, wide anterior fontanel, and axial hypotonia. | 0.2176 | no_evidence | 0 | 0 | None |
SCV000020600 | VCV000000423 | RCV000000451 | 423 | NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) | 3 | 49,022,903 | 49,022,903 | G | C | Pathogenic | pathogenic | OMIM | NDUFAF3 | In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. The child was born of consanguineous Arab Musli... | 2009-06-01 | 2009-06-01 | no assertion criteria provided | variation to disease | NDUFAF3 | 122 | R | P | functional | null | false | 0.6318 | null | 0 | 0 | 4 | He had intermittent generalized tonic movements, and funduscopy showed pallor of the optic discs. | 0.1932 | no_evidence | 0 | 0 | None |
SCV000020600 | VCV000000423 | RCV000000451 | 423 | NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) | 3 | 49,022,903 | 49,022,903 | G | C | Pathogenic | pathogenic | OMIM | NDUFAF3 | In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. The child was born of consanguineous Arab Musli... | 2009-06-01 | 2009-06-01 | no assertion criteria provided | variation to disease | NDUFAF3 | 122 | R | P | functional | null | false | 0.6318 | null | 0 | 0 | 5 | At 3 months of age, there was no eye contact and marked axial hypotonia with brisk tendon reflexes. | 0.4236 | no_evidence | 0 | 0 | None |
SCV000020618 | VCV000000440 | RCV000000469 | 440 | NM_005581.5(BCAM):c.691C>T (p.Arg231Ter) | 19 | 44,813,527 | 44,813,527 | C | T | Pathogenic | pathogenic | OMIM | BCAM | In an English woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. (2007) identified compound heterozygosity for 2 mutations in the BCAM gene: a 691C-T transition in exon 6 resulting in an arg231-to-ter (R231X) substitution in the extracellular second immunoglobulin domain, and a deletion ... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 231 | R | X | functional | null | false | 0.0311 | null | 0 | 0 | 0 | In an English woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. | 0.0233 | no_evidence | 0 | 0 | None |
SCV000020618 | VCV000000440 | RCV000000469 | 440 | NM_005581.5(BCAM):c.691C>T (p.Arg231Ter) | 19 | 44,813,527 | 44,813,527 | C | T | Pathogenic | pathogenic | OMIM | BCAM | In an English woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. (2007) identified compound heterozygosity for 2 mutations in the BCAM gene: a 691C-T transition in exon 6 resulting in an arg231-to-ter (R231X) substitution in the extracellular second immunoglobulin domain, and a deletion ... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 231 | R | X | functional | null | false | 0.0311 | null | 0 | 0 | 1 | (2007) identified compound heterozygosity for 2 mutations in the BCAM gene: a 691C-T transition in exon 6 resulting in an arg231-to-ter (R231X) substitution in the extracellular second immunoglobulin domain, and a deletion of exons 3 and 4 (612773.0004). | 0.0186 | no_evidence | 0 | 0 | None |
SCV000020618 | VCV000000440 | RCV000000469 | 440 | NM_005581.5(BCAM):c.691C>T (p.Arg231Ter) | 19 | 44,813,527 | 44,813,527 | C | T | Pathogenic | pathogenic | OMIM | BCAM | In an English woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. (2007) identified compound heterozygosity for 2 mutations in the BCAM gene: a 691C-T transition in exon 6 resulting in an arg231-to-ter (R231X) substitution in the extracellular second immunoglobulin domain, and a deletion ... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 231 | R | X | functional | null | false | 0.0311 | null | 0 | 0 | 2 | The woman had previously been reported by Darnborough et al. | 0.0311 | no_evidence | 0 | 0 | None |
SCV000020618 | VCV000000440 | RCV000000469 | 440 | NM_005581.5(BCAM):c.691C>T (p.Arg231Ter) | 19 | 44,813,527 | 44,813,527 | C | T | Pathogenic | pathogenic | OMIM | BCAM | In an English woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. (2007) identified compound heterozygosity for 2 mutations in the BCAM gene: a 691C-T transition in exon 6 resulting in an arg231-to-ter (R231X) substitution in the extracellular second immunoglobulin domain, and a deletion ... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 231 | R | X | functional | null | false | 0.0311 | null | 0 | 0 | 3 | There were no clinical manifestations; she was identified through routine serology in preparation for surgery. | 0.0136 | no_evidence | 0 | 0 | None |
SCV000020620 | VCV000000442 | RCV000000471 | 442 | NM_005581.5(BCAM):c.711C>A (p.Cys237Ter) | 19 | 44,813,547 | 44,813,547 | C | A | Pathogenic | pathogenic | OMIM | BCAM | In a healthy Japanese man with the Lutheran null blood group phenotype (247420), Mallinson et al. (1997) identified a homozygous 733C-A transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter (C237X) substitution in the extracellular domain. He was identified through blood donation and had no phenotypic m... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 237 | C | X | functional | null | false | 0.0438 | null | 0 | 0 | 0 | In a healthy Japanese man with the Lutheran null blood group phenotype (247420), Mallinson et al. | 0.0214 | no_evidence | 0 | 0 | None |
SCV000020620 | VCV000000442 | RCV000000471 | 442 | NM_005581.5(BCAM):c.711C>A (p.Cys237Ter) | 19 | 44,813,547 | 44,813,547 | C | A | Pathogenic | pathogenic | OMIM | BCAM | In a healthy Japanese man with the Lutheran null blood group phenotype (247420), Mallinson et al. (1997) identified a homozygous 733C-A transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter (C237X) substitution in the extracellular domain. He was identified through blood donation and had no phenotypic m... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 237 | C | X | functional | null | false | 0.0438 | null | 0 | 0 | 1 | (1997) identified a homozygous 733C-A transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter (C237X) substitution in the extracellular domain. | 0.0126 | no_evidence | 0 | 0 | None |
SCV000020620 | VCV000000442 | RCV000000471 | 442 | NM_005581.5(BCAM):c.711C>A (p.Cys237Ter) | 19 | 44,813,547 | 44,813,547 | C | A | Pathogenic | pathogenic | OMIM | BCAM | In a healthy Japanese man with the Lutheran null blood group phenotype (247420), Mallinson et al. (1997) identified a homozygous 733C-A transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter (C237X) substitution in the extracellular domain. He was identified through blood donation and had no phenotypic m... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 237 | C | X | functional | null | false | 0.0438 | null | 0 | 0 | 2 | He was identified through blood donation and had no phenotypic manifestations. | 0.0053 | no_evidence | 0 | 0 | None |
SCV000020620 | VCV000000442 | RCV000000471 | 442 | NM_005581.5(BCAM):c.711C>A (p.Cys237Ter) | 19 | 44,813,547 | 44,813,547 | C | A | Pathogenic | pathogenic | OMIM | BCAM | In a healthy Japanese man with the Lutheran null blood group phenotype (247420), Mallinson et al. (1997) identified a homozygous 733C-A transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter (C237X) substitution in the extracellular domain. He was identified through blood donation and had no phenotypic m... | 2007-03-01 | 2007-03-01 | no assertion criteria provided | variation to disease | BCAM | 237 | C | X | functional | null | false | 0.0438 | null | 0 | 0 | 3 | (2007) stated that the C237X substitution resulted from a 711C-A transversion based on numbering from the translation initiation ATG codon. | 0.0438 | no_evidence | 0 | 0 | None |
SCV000020621 | VCV000000443 | RCV000000472 | 443 | NM_005581.5(BCAM):c.361C>T (p.Arg121Ter) | 19 | 44,812,319 | 44,812,319 | C | T | Pathogenic | pathogenic | OMIM | BCAM | In a German Caucasian woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. (2004) identified a homozygous 361C-T transition in exon 3 of the BCAM gene, resulting in an arg121-to-ter (R121X) substitution in the extracellular first immunoglobulin domain. She was identified in a surgical work... | 2018-08-28 | 2018-08-28 | no assertion criteria provided | variation to disease | BCAM | 121 | R | X | functional | null | false | 0.0162 | null | 0 | 0 | 0 | In a German Caucasian woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. | 0.0162 | no_evidence | 0 | 0 | None |
SCV000020621 | VCV000000443 | RCV000000472 | 443 | NM_005581.5(BCAM):c.361C>T (p.Arg121Ter) | 19 | 44,812,319 | 44,812,319 | C | T | Pathogenic | pathogenic | OMIM | BCAM | In a German Caucasian woman with the Lutheran null blood group phenotype (247420), Karamatic Crew et al. (2004) identified a homozygous 361C-T transition in exon 3 of the BCAM gene, resulting in an arg121-to-ter (R121X) substitution in the extracellular first immunoglobulin domain. She was identified in a surgical work... | 2018-08-28 | 2018-08-28 | no assertion criteria provided | variation to disease | BCAM | 121 | R | X | functional | null | false | 0.0162 | null | 0 | 0 | 1 | (2004) identified a homozygous 361C-T transition in exon 3 of the BCAM gene, resulting in an arg121-to-ter (R121X) substitution in the extracellular first immunoglobulin domain. | 0.0084 | no_evidence | 0 | 0 | None |
SCV000020634 | VCV000000456 | RCV000000485 | 456 | NM_000097.7(CPOX):c.883C>G (p.His295Asp) | 3 | 98,588,783 | 98,588,783 | G | C | Pathogenic | pathogenic | OMIM | CPOX | Lamoril et al. (1997) demonstrated a novel mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; 121300). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyr... | 1997-01-01 | 1997-01-01 | no assertion criteria provided | variation to disease | CPOX | 295 | H | D | functional | null | false | 0.2625 | null | 0 | 0 | 0 | (1997) demonstrated a novel mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; 121300). | 0.0155 | no_evidence | 0 | 0 | None |
SCV000020634 | VCV000000456 | RCV000000485 | 456 | NM_000097.7(CPOX):c.883C>G (p.His295Asp) | 3 | 98,588,783 | 98,588,783 | G | C | Pathogenic | pathogenic | OMIM | CPOX | Lamoril et al. (1997) demonstrated a novel mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; 121300). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyr... | 1997-01-01 | 1997-01-01 | no assertion criteria provided | variation to disease | CPOX | 295 | H | D | functional | null | false | 0.2625 | null | 0 | 0 | 1 | The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in lymphocytes. | 0.2625 | no_evidence | 0 | 0 | None |
SCV000020634 | VCV000000456 | RCV000000485 | 456 | NM_000097.7(CPOX):c.883C>G (p.His295Asp) | 3 | 98,588,783 | 98,588,783 | G | C | Pathogenic | pathogenic | OMIM | CPOX | Lamoril et al. (1997) demonstrated a novel mutation in the CPO gene in each of 3 unrelated patients with hereditary coproporphyria (HCP; 121300). The diagnosis was based on the observation of typical clinical manifestations, increased excretions of delta-aminolevulinic acid and porphobilinogen in urine and coproporphyr... | 1997-01-01 | 1997-01-01 | no assertion criteria provided | variation to disease | CPOX | 295 | H | D | functional | null | false | 0.2625 | null | 0 | 0 | 2 | One patient had a C-to-G transversion at nucleotide 883 in exon 4 that resulted in a his295-to-asp (H295D) substitution. | 0.0051 | no_evidence | 0 | 0 | None |
SCV000020638 | VCV000000460 | RCV000000489 | 460 | NM_000097.7(CPOX):c.623C>T (p.Ser208Phe) | 3 | 98,591,089 | 98,591,089 | G | A | Pathogenic | pathogenic | OMIM | CPOX | Wiman et al. (2002) identified a heterozygous 623C-T mutation in exon 2 of the CPO gene, resulting in a ser208-to-phe (S208F) substitution, in a patient with hereditary coproporphyria (HCP; 121300). | 2002-01-01 | 2002-01-01 | no assertion criteria provided | variation to disease | CPOX | 208 | S | F | functional | null | false | 0.0179 | null | 0 | 0 | 0 | (2002) identified a heterozygous 623C-T mutation in exon 2 of the CPO gene, resulting in a ser208-to-phe (S208F) substitution, in a patient with hereditary coproporphyria (HCP; 121300). | 0.0179 | no_evidence | 0 | 0 | None |
SCV000020641 | VCV000000463 | RCV000000492 | 463 | NM_000097.7(CPOX):c.835G>C (p.Gly279Arg) | 3 | 98,588,831 | 98,588,831 | C | G | Pathogenic | pathogenic | OMIM | CPOX | Akagi et al. (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). However, a greater than expected increase in ALA compared with PBG a... | 2006-01-01 | 2006-01-01 | no assertion criteria provided | variation to disease | CPOX | 279 | G | R | functional | PS3 | true | 0.9963 | PS3 | 0.9927 | 0 | 0 | (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). | 0.0153 | no_evidence | 0 | 0 | None |
SCV000020641 | VCV000000463 | RCV000000492 | 463 | NM_000097.7(CPOX):c.835G>C (p.Gly279Arg) | 3 | 98,588,831 | 98,588,831 | C | G | Pathogenic | pathogenic | OMIM | CPOX | Akagi et al. (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). However, a greater than expected increase in ALA compared with PBG a... | 2006-01-01 | 2006-01-01 | no assertion criteria provided | variation to disease | CPOX | 279 | G | R | functional | PS3 | true | 0.9963 | PS3 | 0.9927 | 0 | 1 | However, a greater than expected increase in ALA compared with PBG and a substantial increase in erythrocyte zinc protoporphyrin suggested additional ALA dehydratase (ALAD) deficiency (612740). | 0.0572 | no_evidence | 0 | 0 | None |
SCV000020641 | VCV000000463 | RCV000000492 | 463 | NM_000097.7(CPOX):c.835G>C (p.Gly279Arg) | 3 | 98,588,831 | 98,588,831 | C | G | Pathogenic | pathogenic | OMIM | CPOX | Akagi et al. (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). However, a greater than expected increase in ALA compared with PBG a... | 2006-01-01 | 2006-01-01 | no assertion criteria provided | variation to disease | CPOX | 279 | G | R | functional | PS3 | true | 0.9963 | PS3 | 0.9927 | 0 | 2 | (2006) detected a heterozygous G-to-C transversion at nucleotide 835 of the CPO gene that caused a gly279-to-arg (G279R) amino acid change. | 0.011 | no_evidence | 0 | 0 | None |
SCV000020641 | VCV000000463 | RCV000000492 | 463 | NM_000097.7(CPOX):c.835G>C (p.Gly279Arg) | 3 | 98,588,831 | 98,588,831 | C | G | Pathogenic | pathogenic | OMIM | CPOX | Akagi et al. (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). However, a greater than expected increase in ALA compared with PBG a... | 2006-01-01 | 2006-01-01 | no assertion criteria provided | variation to disease | CPOX | 279 | G | R | functional | PS3 | true | 0.9963 | PS3 | 0.9927 | 0 | 3 | The mutant protein expressed in E. coli was unstable and produced about 5% of activity compared with the wildtype. | 0.9963 | has_evidence | 0.0073 | 0.9927 | PS3 |
SCV000020641 | VCV000000463 | RCV000000492 | 463 | NM_000097.7(CPOX):c.835G>C (p.Gly279Arg) | 3 | 98,588,831 | 98,588,831 | C | G | Pathogenic | pathogenic | OMIM | CPOX | Akagi et al. (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). However, a greater than expected increase in ALA compared with PBG a... | 2006-01-01 | 2006-01-01 | no assertion criteria provided | variation to disease | CPOX | 279 | G | R | functional | PS3 | true | 0.9963 | PS3 | 0.9927 | 0 | 4 | A missense mutation was found on 1 allele of the ALAD gene (125270.0006). | 0.0102 | no_evidence | 0 | 0 | None |
SCV000020641 | VCV000000463 | RCV000000492 | 463 | NM_000097.7(CPOX):c.835G>C (p.Gly279Arg) | 3 | 98,588,831 | 98,588,831 | C | G | Pathogenic | pathogenic | OMIM | CPOX | Akagi et al. (2006) described a Caucasian male who had symptoms of acute porphyria, with increases in urinary delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and coproporphyrin that were consistent with hereditary coproporphyria (HCP; 121300). However, a greater than expected increase in ALA compared with PBG a... | 2006-01-01 | 2006-01-01 | no assertion criteria provided | variation to disease | CPOX | 279 | G | R | functional | PS3 | true | 0.9963 | PS3 | 0.9927 | 0 | 5 | Thus, the patient represented the first case of porphyria in which both CPO and ALAD deficiencies were demonstrated at the molecular level. | 0.0221 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 0 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. | 0.0588 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 1 | (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. | 0.0441 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 2 | The deficiency of the 2.1 ankyrin isoform was accompanied by a proportional deficiency of spectrin. | 0.1302 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 3 | The genetic defect was a nonsense mutation glu1669-to-ter (GAA-to-TAA) in 1 allele of the ANK1 gene. | 0.0672 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 4 | Only normal 2.1 mRNA was detected in the reticulocyte RNA. | 0.9404 | has_evidence | 0.1528 | 0.8472 | PS3 |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 5 | The regulatory domain of ankyrin is subject to extensive alternative splicing. | 0.0283 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 6 | In the case of this mutation, alternative splicing within the regulatory domain of ankyrin retained codon 1669 in ankyrin 2.1 mRNA and removed it from ankyrin 2.2 mRNA. | 0.0519 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 7 | (1995) proposed that the glu1669-to-ter mutation decreased the stability of the abnormal ankyrin 2.1 mRNA allele, leading to a decreased synthesis of ankyrin 2.1 and a secondary deficiency of spectrin. | 0.6315 | no_evidence | 0 | 0 | None |
SCV000020684 | VCV000000506 | RCV000000535 | 506 | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | 8 | 41,672,445 | 41,672,445 | C | A | Pathogenic | pathogenic | OMIM | ANK1 | In a kindred with autosomal dominant hereditary spherocytosis (SPH1; 182900), Jarolim et al. (1995) identified a unique mutation in the regulatory domain of ankyrin associated with a marked and selective deficiency of ankyrin isoform 2.1 and a normal content of ankyrin isoform 2.2. The deficiency of the 2.1 ankyrin iso... | 1995-03-01 | 1995-03-01 | no assertion criteria provided | variation to disease | ANK1 | 1,669 | E | X | functional | PS3 | true | 0.9404 | PS3 | 0.8472 | 0 | 8 | The mutant ankyrin was named for the city of origin, Rakovnik, in the Czech Republic. | 0.0511 | no_evidence | 0 | 0 | None |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 0 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. | 0.0218 | no_evidence | 0 | 0 | None |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 1 | (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in a highly conserved residue. | 0.0056 | no_evidence | 0 | 0 | None |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 2 | The mutation was not present in 100 control Lebanese chromosomes. | 0.0041 | no_evidence | 0 | 0 | None |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 3 | The patients presented in infancy with focal seizures, decreased movement and strength, ataxia, lactic acidosis, and neuroimaging results consistent with Leigh syndrome. | 0.0933 | no_evidence | 0 | 0 | None |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 4 | Biochemical studies showed complex I deficiency in liver, muscle, and fibroblasts. | 0.9908 | has_evidence | 0.006 | 0.994 | PS3 |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 5 | (2011) demonstrated that the c.296A-G transition causes a splicing defect that results in the loss of isoform 1 transcripts (Gln99ArgfsTer3). | 0.9401 | has_evidence | 0.0113 | 0.9887 | PS3 |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 6 | Fibroblasts derived from the patients reported by Pagliarini et al. | 0.9418 | has_evidence | 0.021 | 0.979 | PS3 |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 7 | (2008) had reduced steady-state levels of complex I and decreased levels of NDUFAF6 isoform 1. | 0.8637 | has_evidence | 0.0089 | 0.9911 | PS3 |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 8 | The complex I defect could be rescued by complementation with wildtype NDUFAF6. | 0.9896 | has_evidence | 0.0153 | 0.9847 | PS3 |
SCV000020726 | VCV000000547 | RCV000000577 | 547 | NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) | 8 | 95,032,093 | 95,032,093 | A | G | Pathogenic | pathogenic | OMIM | NDUFAF6 | In 2 Lebanese sibs, born of consanguineous parents, with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Pagliarini et al. (2008) identified a homozygous c.296A-G transition in exon 2 of the NDUFAF6 gene, resulting in a gln99-to-arg (Q99R) substitution in... | 2008-07-11 | 2008-07-11 | no assertion criteria provided | variation to disease | NDUFAF6 | 99 | Q | R | functional | PS3 | true | 0.9908 | PS3 | 0.9945 | 0 | 9 | Patient cells also showed decreased levels of the mtDNA-encoded subunit ND1 (MTND1; 516000) due to a translation defect, which resulted in the stalled assembly of other subunits during complex I formation. | 0.8938 | has_evidence | 0.0055 | 0.9945 | PS3 |
SCV000020941 | VCV000000755 | RCV000000791 | 755 | NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu) | 2 | 232,809,731 | 232,809,731 | C | G | risk factor | risk factor | OMIM | GIGYF2 | In a French mother and son with Parkinson disease-11 (PARK11; 607688), Lautier et al. (2008) identified a heterozygous 1818C-G transversion in exon 14 of the GIGYF2 gene, resulting in an asp606-to-glu (D606E) substitution in a highly conserved region. Disease onset was at ages 83 and 42, respectively. A maternal aunt, ... | 2008-04-01 | 2008-04-01 | no assertion criteria provided | variation to disease | GIGYF2 | 606 | D | E | functional | null | false | 0.0319 | null | 0 | 0 | 0 | In a French mother and son with Parkinson disease-11 (PARK11; 607688), Lautier et al. | 0.0319 | no_evidence | 0 | 0 | None |
SCV000020941 | VCV000000755 | RCV000000791 | 755 | NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu) | 2 | 232,809,731 | 232,809,731 | C | G | risk factor | risk factor | OMIM | GIGYF2 | In a French mother and son with Parkinson disease-11 (PARK11; 607688), Lautier et al. (2008) identified a heterozygous 1818C-G transversion in exon 14 of the GIGYF2 gene, resulting in an asp606-to-glu (D606E) substitution in a highly conserved region. Disease onset was at ages 83 and 42, respectively. A maternal aunt, ... | 2008-04-01 | 2008-04-01 | no assertion criteria provided | variation to disease | GIGYF2 | 606 | D | E | functional | null | false | 0.0319 | null | 0 | 0 | 1 | (2008) identified a heterozygous 1818C-G transversion in exon 14 of the GIGYF2 gene, resulting in an asp606-to-glu (D606E) substitution in a highly conserved region. | 0.009 | no_evidence | 0 | 0 | None |
SCV000021053 | VCV000000855 | RCV000000903 | 855 | NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) | 17 | 28,405,360 | 28,405,360 | G | A | Pathogenic | pathogenic | OMIM | SLC46A1 | In a patient with hereditary folate malabsorption (229050), Lasry et al. (2008) identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. In vitro functional expression stud... | 2008-09-01 | 2008-09-01 | no assertion criteria provided | variation to disease | SLC46A1 | 113 | R | C | functional | PS3 | true | 0.9978 | PS3 | 0.9944 | 0 | 0 | In a patient with hereditary folate malabsorption (229050), Lasry et al. | 0.1223 | no_evidence | 0 | 0 | None |
SCV000021053 | VCV000000855 | RCV000000903 | 855 | NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) | 17 | 28,405,360 | 28,405,360 | G | A | Pathogenic | pathogenic | OMIM | SLC46A1 | In a patient with hereditary folate malabsorption (229050), Lasry et al. (2008) identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. In vitro functional expression stud... | 2008-09-01 | 2008-09-01 | no assertion criteria provided | variation to disease | SLC46A1 | 113 | R | C | functional | PS3 | true | 0.9978 | PS3 | 0.9944 | 0 | 1 | (2008) identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. | 0.0063 | no_evidence | 0 | 0 | None |
SCV000021053 | VCV000000855 | RCV000000903 | 855 | NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) | 17 | 28,405,360 | 28,405,360 | G | A | Pathogenic | pathogenic | OMIM | SLC46A1 | In a patient with hereditary folate malabsorption (229050), Lasry et al. (2008) identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. In vitro functional expression stud... | 2008-09-01 | 2008-09-01 | no assertion criteria provided | variation to disease | SLC46A1 | 113 | R | C | functional | PS3 | true | 0.9978 | PS3 | 0.9944 | 0 | 2 | In vitro functional expression studies in Chinese hamster ovary (CHO) cells showed that the mutant protein was targeted to the plasma membrane but had significantly impaired folate transport activity. | 0.9978 | has_evidence | 0.0056 | 0.9944 | PS3 |
SCV000021053 | VCV000000855 | RCV000000903 | 855 | NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) | 17 | 28,405,360 | 28,405,360 | G | A | Pathogenic | pathogenic | OMIM | SLC46A1 | In a patient with hereditary folate malabsorption (229050), Lasry et al. (2008) identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. In vitro functional expression stud... | 2008-09-01 | 2008-09-01 | no assertion criteria provided | variation to disease | SLC46A1 | 113 | R | C | functional | PS3 | true | 0.9978 | PS3 | 0.9944 | 0 | 3 | Another mutation at this codon (R113S; 611672.0003) was identified in another patient with the disorder. | 0.0061 | no_evidence | 0 | 0 | None |
SCV000021053 | VCV000000855 | RCV000000903 | 855 | NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) | 17 | 28,405,360 | 28,405,360 | G | A | Pathogenic | pathogenic | OMIM | SLC46A1 | In a patient with hereditary folate malabsorption (229050), Lasry et al. (2008) identified a homozygous 337C-T transition in exon 2 of the in the SLC46A1 gene, resulting in an arg113-to-cys (R113C) substitution in the first intracellular loop connecting transmembrane helices 2 and 3. In vitro functional expression stud... | 2008-09-01 | 2008-09-01 | no assertion criteria provided | variation to disease | SLC46A1 | 113 | R | C | functional | PS3 | true | 0.9978 | PS3 | 0.9944 | 0 | 4 | Bioinformatic analysis showed that the arg113 residue is highly conserved and faces the intramembrane hydrophobic pocket that may be part of a folate translocation pore. | 0.0067 | no_evidence | 0 | 0 | None |
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