#AlleleID int64 15k 4.96M | Type stringclasses 15
values | Name stringlengths 3 922 | GeneID int64 -1 137M | GeneSymbol stringlengths 1 736 | HGNC_ID stringlengths 1 10 | ClinicalSignificance stringclasses 103
values | ClinSigSimple int64 -1 1 | LastEvaluated stringlengths 1 12 | RS# (dbSNP) int64 -1 2.55B | nsv/esv (dbVar) stringlengths 1 10 | RCVaccession stringlengths 1 532 | PhenotypeIDS stringlengths 1 4.31k | PhenotypeList stringlengths 1 1.48k | Origin stringclasses 179
values | OriginSimple stringclasses 6
values | Assembly stringclasses 4
values | ChromosomeAccession stringclasses 141
values | Chromosome stringclasses 27
values | Start int64 -1 249M | Stop int64 -1 249M | ReferenceAllele stringclasses 21
values | AlternateAllele stringclasses 29
values | Cytogenetic stringlengths 1 26 | ReviewStatus stringclasses 10
values | NumberSubmitters int64 0 90 | Guidelines stringclasses 6
values | TestedInGTR stringclasses 2
values | OtherIDs stringlengths 1 4.04k | SubmitterCategories int64 1 4 | VariationID int64 2 4.85M | PositionVCF int64 -1 249M | ReferenceAlleleVCF stringlengths 1 9.98k | AlternateAlleleVCF stringlengths 1 9.97k | SomaticClinicalImpact stringclasses 6
values | SomaticClinicalImpactLastEvaluated stringclasses 538
values | ReviewStatusClinicalImpact stringclasses 5
values | Oncogenicity stringclasses 8
values | OncogenicityLastEvaluated stringclasses 21
values | ReviewStatusOncogenicity stringclasses 6
values | SCVsForAggregateGermlineClassification stringlengths 1 909 | SCVsForAggregateSomaticClinicalImpact stringlengths 1 220 | SCVsForAggregateOncogenicityClassification stringlengths 1 25 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
15,041 | Indel | NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) | 9,907 | AP5Z1 | HGNC:22197 | Pathogenic/Likely pathogenic | 1 | Dec 17, 2024 | 397,704,705 | - | RCV000000012|RCV005255549|RCV004998069 | MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511||MedGen:C3661900 | Hereditary spastic paraplegia 48|Macular dystrophy with or without extraocular features|not provided | germline;unknown | germline | GRCh37 | NC_000007.13 | 7 | 4,820,844 | 4,820,847 | na | na | 7p22.1 | criteria provided, multiple submitters, no conflicts | 4 | - | N | ClinGen:CA215070,OMIM:613653.0001 | 3 | 2 | 4,820,844 | GGAT | TGCTGTAAACTGTAACTGTAAA | - | - | - | - | - | - | SCV001451119|SCV005622007|SCV005909190 | - | - |
15,041 | Indel | NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) | 9,907 | AP5Z1 | HGNC:22197 | Pathogenic/Likely pathogenic | 1 | Dec 17, 2024 | 397,704,705 | - | RCV000000012|RCV005255549|RCV004998069 | MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511||MedGen:C3661900 | Hereditary spastic paraplegia 48|Macular dystrophy with or without extraocular features|not provided | germline;unknown | germline | GRCh38 | NC_000007.14 | 7 | 4,781,213 | 4,781,216 | na | na | 7p22.1 | criteria provided, multiple submitters, no conflicts | 4 | - | N | ClinGen:CA215070,OMIM:613653.0001 | 3 | 2 | 4,781,213 | GGAT | TGCTGTAAACTGTAACTGTAAA | - | - | - | - | - | - | SCV001451119|SCV005622007|SCV005909190 | - | - |
15,042 | Deletion | NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) | 9,907 | AP5Z1 | HGNC:22197 | Pathogenic | 1 | Jun 29, 2010 | 397,704,709 | - | RCV000000013 | MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511 | Hereditary spastic paraplegia 48 | germline | germline | GRCh37 | NC_000007.13 | 7 | 4,827,361 | 4,827,374 | na | na | 7p22.1 | no assertion criteria provided | 1 | - | N | ClinGen:CA215072,OMIM:613653.0002 | 1 | 3 | 4,827,360 | GCTGCTGGACCTGCC | G | - | - | - | - | - | - | SCV000020156 | - | - |
15,042 | Deletion | NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) | 9,907 | AP5Z1 | HGNC:22197 | Pathogenic | 1 | Jun 29, 2010 | 397,704,709 | - | RCV000000013 | MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511 | Hereditary spastic paraplegia 48 | germline | germline | GRCh38 | NC_000007.14 | 7 | 4,787,730 | 4,787,743 | na | na | 7p22.1 | no assertion criteria provided | 1 | - | N | ClinGen:CA215072,OMIM:613653.0002 | 1 | 3 | 4,787,729 | GCTGCTGGACCTGCC | G | - | - | - | - | - | - | SCV000020156 | - | - |
15,043 | single nucleotide variant | NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) | 9,640 | ZNF592 | HGNC:28986 | Uncertain significance | 0 | Jun 29, 2015 | 150,829,393 | - | RCV000000014 | MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472 | Galloway-Mowat syndrome 1 | germline | germline | GRCh37 | NC_000015.9 | 15 | 85,342,440 | 85,342,440 | na | na | 15q25.3 | no assertion criteria provided | 1 | - | N | ClinGen:CA210674,UniProtKB:Q92610#VAR_064583,OMIM:613624.0001 | 1 | 4 | 85,342,440 | G | A | - | - | - | - | - | - | SCV000020157 | - | - |
15,043 | single nucleotide variant | NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) | 9,640 | ZNF592 | HGNC:28986 | Uncertain significance | 0 | Jun 29, 2015 | 150,829,393 | - | RCV000000014 | MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472 | Galloway-Mowat syndrome 1 | germline | germline | GRCh38 | NC_000015.10 | 15 | 84,799,209 | 84,799,209 | na | na | 15q25.3 | no assertion criteria provided | 1 | - | N | ClinGen:CA210674,UniProtKB:Q92610#VAR_064583,OMIM:613624.0001 | 1 | 4 | 84,799,209 | G | A | - | - | - | - | - | - | SCV000020157 | - | - |
15,044 | single nucleotide variant | NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) | 55,572 | FOXRED1 | HGNC:26927 | Pathogenic | 1 | Aug 17, 2025 | 267,606,829 | - | RCV000000015|RCV000578659|RCV001194045|RCV003390625 | MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506| | Mitochondrial complex I deficiency, nuclear type 19|not provided|Leigh syndrome|FOXRED1-related disorder | germline | germline | GRCh37 | NC_000011.9 | 11 | 126,145,284 | 126,145,284 | na | na | 11q24.2 | criteria provided, multiple submitters, no conflicts | 6 | - | N | ClinGen:CA113792,OMIM:613622.0001 | 3 | 5 | 126,145,284 | C | T | - | - | - | - | - | - | SCV000680696|SCV001363290|SCV002793147|SCV002982300|SCV004119439 | - | - |
15,044 | single nucleotide variant | NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) | 55,572 | FOXRED1 | HGNC:26927 | Pathogenic | 1 | Aug 17, 2025 | 267,606,829 | - | RCV000000015|RCV000578659|RCV001194045|RCV003390625 | MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506| | Mitochondrial complex I deficiency, nuclear type 19|not provided|Leigh syndrome|FOXRED1-related disorder | germline | germline | GRCh38 | NC_000011.10 | 11 | 126,275,389 | 126,275,389 | na | na | 11q24.2 | criteria provided, multiple submitters, no conflicts | 6 | - | N | ClinGen:CA113792,OMIM:613622.0001 | 3 | 5 | 126,275,389 | C | T | - | - | - | - | - | - | SCV000680696|SCV001363290|SCV002793147|SCV002982300|SCV004119439 | - | - |
15,045 | single nucleotide variant | NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) | 55,572 | FOXRED1 | HGNC:26927 | Likely pathogenic | 1 | Jun 06, 2024 | 267,606,830 | - | RCV000000016 | MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | germline | germline | GRCh37 | NC_000011.9 | 11 | 126,147,412 | 126,147,412 | na | na | 11q24.2 | criteria provided, single submitter | 2 | - | N | ClinGen:CA113794,UniProtKB:Q96CU9#VAR_064571,OMIM:613622.0002 | 3 | 6 | 126,147,412 | A | G | - | - | - | - | - | - | SCV005680614 | - | - |
15,045 | single nucleotide variant | NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) | 55,572 | FOXRED1 | HGNC:26927 | Likely pathogenic | 1 | Jun 06, 2024 | 267,606,830 | - | RCV000000016 | MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | germline | germline | GRCh38 | NC_000011.10 | 11 | 126,277,517 | 126,277,517 | na | na | 11q24.2 | criteria provided, single submitter | 2 | - | N | ClinGen:CA113794,UniProtKB:Q96CU9#VAR_064571,OMIM:613622.0002 | 3 | 6 | 126,277,517 | A | G | - | - | - | - | - | - | SCV005680614 | - | - |
15,046 | single nucleotide variant | NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) | 80,224 | NUBPL | HGNC:20278 | Conflicting classifications of pathogenicity | 1 | Apr 08, 2025 | 200,401,432 | - | RCV000196589|RCV000622708|RCV001526454|RCV005055710 | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MedGen:CN169374 | not provided|Inborn genetic diseases|Mitochondrial complex I deficiency, nuclear type 21|not specified | germline;maternal;paternal | germline | GRCh37 | NC_000014.8 | 14 | 32,031,331 | 32,031,331 | na | na | 14q12 | criteria provided, conflicting classifications | 6 | - | N | ClinGen:CA321015,UniProtKB:Q8TB37#VAR_064570,OMIM:613621.0001,ClinVar:7 | 2 | 214,885 | 32,031,331 | G | A | - | - | - | - | - | - | SCV000251971|SCV000742093|SCV001736868|SCV003255705|SCV005726475|SCV006101074|SCV006318569 | - | - |
15,046 | single nucleotide variant | NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) | 80,224 | NUBPL | HGNC:20278 | Conflicting classifications of pathogenicity | 1 | Apr 08, 2025 | 200,401,432 | - | RCV000196589|RCV000622708|RCV001526454|RCV005055710 | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MedGen:CN169374 | not provided|Inborn genetic diseases|Mitochondrial complex I deficiency, nuclear type 21|not specified | germline;maternal;paternal | germline | GRCh38 | NC_000014.9 | 14 | 31,562,125 | 31,562,125 | na | na | 14q12 | criteria provided, conflicting classifications | 6 | - | N | ClinGen:CA321015,UniProtKB:Q8TB37#VAR_064570,OMIM:613621.0001,ClinVar:7 | 2 | 214,885 | 31,562,125 | G | A | - | - | - | - | - | - | SCV000251971|SCV000742093|SCV001736868|SCV003255705|SCV005726475|SCV006101074|SCV006318569 | - | - |
15,048 | single nucleotide variant | NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) | 3,077 | HFE | HGNC:4886 | Conflicting classifications of pathogenicity; other; risk factor | 1 | Feb 13, 2026 | 1,800,562 | - | RCV000000019|RCV000178096|RCV000210820|RCV000308358|RCV000414811|RCV001248830|RCV001270034|RCV001731264|RCV002280089|RCV002512585|RCV003224084|RCV003493406|RCV005621842 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|Human Phenotype Ontology:HP:0010473,MedGen:C0151861;Human Phenotype Ontology:HP:0000992,Human Phenotype Ontology:HP:0005594,H... | Hemochromatosis type 1|not provided|Hereditary cancer-predisposing syndrome|Hereditary hemochromatosis|Porphyrinuria;Cutaneous photosensitivity|Bronze diabetes|7 conditions|Cardiomyopathy|HFE-related disorder|Inborn genetic diseases|6 conditions|Juvenile hemochromatosis|Neuroendocrine neoplasm | biparental;germline;unknown | germline | GRCh37 | NC_000006.11 | 6 | 26,093,141 | 26,093,141 | na | na | 6p22.2 | criteria provided, conflicting classifications | 58 | ACMG2021,ACMG2022 | Y | ClinGen:CA113795,UniProtKB:Q30201#VAR_004398,OMIM:613609.0001 | 3 | 9 | 26,093,141 | G | A | - | - | - | - | - | - | SCV000151394|SCV000206975|SCV000219175|SCV000221190|SCV000223934|SCV000230091|SCV000267038|SCV000329362|SCV000461887|SCV000839959|SCV000883106|SCV001137062|SCV001194044|SCV001246053|SCV001251531|SCV001448752|SCV001519562|SCV001523198|SCV001905583|SCV001984982|SCV002028313|SCV002044430|SCV002061285|SCV002502491|SCV00252... | - | - |
15,048 | single nucleotide variant | NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) | 3,077 | HFE | HGNC:4886 | Conflicting classifications of pathogenicity; other; risk factor | 1 | Feb 13, 2026 | 1,800,562 | - | RCV000000019|RCV000178096|RCV000210820|RCV000308358|RCV000414811|RCV001248830|RCV001270034|RCV001731264|RCV002280089|RCV002512585|RCV003224084|RCV003493406|RCV005621842 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|Human Phenotype Ontology:HP:0010473,MedGen:C0151861;Human Phenotype Ontology:HP:0000992,Human Phenotype Ontology:HP:0005594,H... | Hemochromatosis type 1|not provided|Hereditary cancer-predisposing syndrome|Hereditary hemochromatosis|Porphyrinuria;Cutaneous photosensitivity|Bronze diabetes|7 conditions|Cardiomyopathy|HFE-related disorder|Inborn genetic diseases|6 conditions|Juvenile hemochromatosis|Neuroendocrine neoplasm | biparental;germline;unknown | germline | GRCh38 | NC_000006.12 | 6 | 26,092,913 | 26,092,913 | na | na | 6p22.2 | criteria provided, conflicting classifications | 58 | ACMG2021,ACMG2022 | Y | ClinGen:CA113795,UniProtKB:Q30201#VAR_004398,OMIM:613609.0001 | 3 | 9 | 26,092,913 | G | A | - | - | - | - | - | - | SCV000151394|SCV000206975|SCV000219175|SCV000221190|SCV000223934|SCV000230091|SCV000267038|SCV000329362|SCV000461887|SCV000839959|SCV000883106|SCV001137062|SCV001194044|SCV001246053|SCV001251531|SCV001448752|SCV001519562|SCV001523198|SCV001905583|SCV001984982|SCV002028313|SCV002044430|SCV002061285|SCV002502491|SCV00252... | - | - |
15,049 | single nucleotide variant | NM_000410.4(HFE):c.187C>G (p.His63Asp) | 3,077 | HFE | HGNC:4886 | Conflicting classifications of pathogenicity; other | 1 | Feb 13, 2026 | 1,799,945 | - | RCV000000026|RCV000175607|RCV000394716|RCV000763144|RCV000844708|RCV000991133|RCV001248831|RCV001731265|RCV002272003|RCV004584302|RCV005621843 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|6 conditions|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C0018995,Orphanet:220489|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878... | Hemochromatosis type 1|not provided|Hereditary hemochromatosis|6 conditions|not specified|Cystic fibrosis|Bronze diabetes|Cardiomyopathy|Variegate porphyria|See cases|Neuroendocrine neoplasm | biparental;germline;unknown | germline | GRCh37 | NC_000006.11 | 6 | 26,091,179 | 26,091,179 | na | na | 6p22.2 | criteria provided, conflicting classifications | 58 | ACMG2021,ACMG2022 | Y | UniProtKB:Q30201#VAR_004396,OMIM:613609.0002,ClinGen:CA113797 | 3 | 10 | 26,091,179 | C | G | - | - | - | - | - | - | SCV000206973|SCV000219176|SCV000223933|SCV000227124|SCV000461883|SCV000577565|SCV000693430|SCV000893709|SCV001137061|SCV001154674|SCV001194094|SCV001251532|SCV001368348|SCV001519563|SCV001523197|SCV001715880|SCV001905582|SCV001984998|SCV002028310|SCV002038504|SCV002499222|SCV002502480|SCV002506442|SCV002556586|SCV00256... | - | - |
15,049 | single nucleotide variant | NM_000410.4(HFE):c.187C>G (p.His63Asp) | 3,077 | HFE | HGNC:4886 | Conflicting classifications of pathogenicity; other | 1 | Feb 13, 2026 | 1,799,945 | - | RCV000000026|RCV000175607|RCV000394716|RCV000763144|RCV000844708|RCV000991133|RCV001248831|RCV001731265|RCV002272003|RCV004584302|RCV005621843 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|6 conditions|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C0018995,Orphanet:220489|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878... | Hemochromatosis type 1|not provided|Hereditary hemochromatosis|6 conditions|not specified|Cystic fibrosis|Bronze diabetes|Cardiomyopathy|Variegate porphyria|See cases|Neuroendocrine neoplasm | biparental;germline;unknown | germline | GRCh38 | NC_000006.12 | 6 | 26,090,951 | 26,090,951 | na | na | 6p22.2 | criteria provided, conflicting classifications | 58 | ACMG2021,ACMG2022 | Y | UniProtKB:Q30201#VAR_004396,OMIM:613609.0002,ClinGen:CA113797 | 3 | 10 | 26,090,951 | C | G | - | - | - | - | - | - | SCV000206973|SCV000219176|SCV000223933|SCV000227124|SCV000461883|SCV000577565|SCV000693430|SCV000893709|SCV001137061|SCV001154674|SCV001194094|SCV001251532|SCV001368348|SCV001519563|SCV001523197|SCV001715880|SCV001905582|SCV001984998|SCV002028310|SCV002038504|SCV002499222|SCV002502480|SCV002506442|SCV002556586|SCV00256... | - | - |
15,050 | single nucleotide variant | NM_000410.4(HFE):c.193A>T (p.Ser65Cys) | 3,077 | HFE | HGNC:4886 | Conflicting classifications of pathogenicity | 1 | Feb 03, 2026 | 1,800,730 | - | RCV000000028|RCV000290779|RCV000764641|RCV000998547|RCV001328435|RCV003224085|RCV004532264 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|6 conditions|MedGen:C3661900|MedGen:CN169374|6 conditions| | Hemochromatosis type 1|Hereditary hemochromatosis|6 conditions|not provided|not specified|6 conditions|HFE-related disorder | germline;unknown | germline | GRCh37 | NC_000006.11 | 6 | 26,091,185 | 26,091,185 | na | na | 6p22.2 | criteria provided, conflicting classifications | 16 | ACMG2021,ACMG2022 | Y | ClinGen:CA339778,UniProtKB:Q30201#VAR_004397,OMIM:613609.0003 | 3 | 11 | 26,091,185 | A | T | - | - | - | - | - | - | SCV000254532|SCV000895749|SCV001154675|SCV001519564|SCV001840774|SCV002044432|SCV002517178|SCV003920031|SCV004242530|SCV004848231|SCV005086727 | - | - |
15,050 | single nucleotide variant | NM_000410.4(HFE):c.193A>T (p.Ser65Cys) | 3,077 | HFE | HGNC:4886 | Conflicting classifications of pathogenicity | 1 | Feb 03, 2026 | 1,800,730 | - | RCV000000028|RCV000290779|RCV000764641|RCV000998547|RCV001328435|RCV003224085|RCV004532264 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|6 conditions|MedGen:C3661900|MedGen:CN169374|6 conditions| | Hemochromatosis type 1|Hereditary hemochromatosis|6 conditions|not provided|not specified|6 conditions|HFE-related disorder | germline;unknown | germline | GRCh38 | NC_000006.12 | 6 | 26,090,957 | 26,090,957 | na | na | 6p22.2 | criteria provided, conflicting classifications | 16 | ACMG2021,ACMG2022 | Y | ClinGen:CA339778,UniProtKB:Q30201#VAR_004397,OMIM:613609.0003 | 3 | 11 | 26,090,957 | A | T | - | - | - | - | - | - | SCV000254532|SCV000895749|SCV001154675|SCV001519564|SCV001840774|SCV002044432|SCV002517178|SCV003920031|SCV004242530|SCV004848231|SCV005086727 | - | - |
15,051 | single nucleotide variant | NM_000410.4(HFE):c.314T>C (p.Ile105Thr) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 1 | Aug 25, 2021 | 28,934,596 | - | RCV000000029|RCV001322296 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 | Hemochromatosis type 1|Hereditary hemochromatosis | germline | germline | GRCh37 | NC_000006.11 | 6 | 26,091,306 | 26,091,306 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA280941,UniProtKB:Q30201#VAR_008730,OMIM:613609.0009 | 3 | 12 | 26,091,306 | T | C | - | - | - | - | - | - | SCV001513159 | - | - |
15,051 | single nucleotide variant | NM_000410.4(HFE):c.314T>C (p.Ile105Thr) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 1 | Aug 25, 2021 | 28,934,596 | - | RCV000000029|RCV001322296 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 | Hemochromatosis type 1|Hereditary hemochromatosis | germline | germline | GRCh38 | NC_000006.12 | 6 | 26,091,078 | 26,091,078 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA280941,UniProtKB:Q30201#VAR_008730,OMIM:613609.0009 | 3 | 12 | 26,091,078 | T | C | - | - | - | - | - | - | SCV001513159 | - | - |
15,052 | single nucleotide variant | NM_000410.4(HFE):c.277G>C (p.Gly93Arg) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 1 | Jul 24, 2024 | 28,934,597 | - | RCV000000030|RCV004700171 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 | Hemochromatosis type 1|not specified | germline | germline | GRCh37 | NC_000006.11 | 6 | 26,091,269 | 26,091,269 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA280943,UniProtKB:Q30201#VAR_008729,OMIM:613609.0010 | 3 | 13 | 26,091,269 | G | C | - | - | - | - | - | - | SCV005202844 | - | - |
15,052 | single nucleotide variant | NM_000410.4(HFE):c.277G>C (p.Gly93Arg) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 1 | Jul 24, 2024 | 28,934,597 | - | RCV000000030|RCV004700171 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 | Hemochromatosis type 1|not specified | germline | germline | GRCh38 | NC_000006.12 | 6 | 26,091,041 | 26,091,041 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA280943,UniProtKB:Q30201#VAR_008729,OMIM:613609.0010 | 3 | 13 | 26,091,041 | G | C | - | - | - | - | - | - | SCV005202844 | - | - |
15,053 | single nucleotide variant | NM_000410.4(HFE):c.892+48G>A | 3,077 | HFE | HGNC:4886 | Benign | 0 | Sep 11, 2018 | 1,800,758 | - | RCV000000031|RCV001618204 | |MedGen:C3661900 | HFE INTRONIC POLYMORPHISM|not provided | germline | germline | GRCh37 | NC_000006.11 | 6 | 26,093,236 | 26,093,236 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA113800,OMIM:613609.0004 | 3 | 14 | 26,093,236 | G | A | - | - | - | - | - | - | SCV001844562 | - | - |
15,053 | single nucleotide variant | NM_000410.4(HFE):c.892+48G>A | 3,077 | HFE | HGNC:4886 | Benign | 0 | Sep 11, 2018 | 1,800,758 | - | RCV000000031|RCV001618204 | |MedGen:C3661900 | HFE INTRONIC POLYMORPHISM|not provided | germline | germline | GRCh38 | NC_000006.12 | 6 | 26,093,008 | 26,093,008 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA113800,OMIM:613609.0004 | 3 | 14 | 26,093,008 | G | A | - | - | - | - | - | - | SCV001844562 | - | - |
15,054 | single nucleotide variant | NM_000410.4(HFE):c.157G>A (p.Val53Met) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 0 | Oct 08, 2024 | 28,934,889 | - | RCV000000032|RCV001336845|RCV005255550 | |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900 | HFE POLYMORPHISM|Hemochromatosis type 1|not provided | germline;paternal | germline | GRCh37 | NC_000006.11 | 6 | 26,091,149 | 26,091,149 | na | na | 6p22.2 | criteria provided, multiple submitters, no conflicts | 3 | ACMG2021,ACMG2022 | N | ClinGen:CA113801,UniProtKB:Q30201#VAR_008111,OMIM:613609.0005 | 3 | 15 | 26,091,149 | G | A | - | - | - | - | - | - | SCV001530348|SCV005908450 | - | - |
15,054 | single nucleotide variant | NM_000410.4(HFE):c.157G>A (p.Val53Met) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 0 | Oct 08, 2024 | 28,934,889 | - | RCV000000032|RCV001336845|RCV005255550 | |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900 | HFE POLYMORPHISM|Hemochromatosis type 1|not provided | germline;paternal | germline | GRCh38 | NC_000006.12 | 6 | 26,090,921 | 26,090,921 | na | na | 6p22.2 | criteria provided, multiple submitters, no conflicts | 3 | ACMG2021,ACMG2022 | N | ClinGen:CA113801,UniProtKB:Q30201#VAR_008111,OMIM:613609.0005 | 3 | 15 | 26,090,921 | G | A | - | - | - | - | - | - | SCV001530348|SCV005908450 | - | - |
15,055 | single nucleotide variant | NM_000410.4(HFE):c.175G>A (p.Val59Met) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 0 | May 04, 2023 | 111,033,557 | - | RCV000000033|RCV000987659|RCV003234881 | |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 | HFE POLYMORPHISM|Hemochromatosis type 1|not specified | germline;unknown | germline | GRCh37 | NC_000006.11 | 6 | 26,091,167 | 26,091,167 | na | na | 6p22.2 | criteria provided, multiple submitters, no conflicts | 3 | ACMG2021,ACMG2022 | N | ClinGen:CA113804,UniProtKB:Q30201#VAR_008112,OMIM:613609.0006 | 3 | 16 | 26,091,167 | G | A | - | - | - | - | - | - | SCV001137060|SCV003934501 | - | - |
15,055 | single nucleotide variant | NM_000410.4(HFE):c.175G>A (p.Val59Met) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 0 | May 04, 2023 | 111,033,557 | - | RCV000000033|RCV000987659|RCV003234881 | |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 | HFE POLYMORPHISM|Hemochromatosis type 1|not specified | germline;unknown | germline | GRCh38 | NC_000006.12 | 6 | 26,090,939 | 26,090,939 | na | na | 6p22.2 | criteria provided, multiple submitters, no conflicts | 3 | ACMG2021,ACMG2022 | N | ClinGen:CA113804,UniProtKB:Q30201#VAR_008112,OMIM:613609.0006 | 3 | 16 | 26,090,939 | G | A | - | - | - | - | - | - | SCV001137060|SCV003934501 | - | - |
15,056 | single nucleotide variant | NM_000410.4(HFE):c.381A>C (p.Gln127His) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 1 | Aug 08, 2024 | 28,934,595 | - | RCV000000034|RCV004766972 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 | Hemochromatosis type 1|not specified | germline | germline | GRCh37 | NC_000006.11 | 6 | 26,091,582 | 26,091,582 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA280945,UniProtKB:Q30201#VAR_008113,OMIM:613609.0007 | 3 | 17 | 26,091,582 | A | C | - | - | - | - | - | - | SCV005380802 | - | - |
15,056 | single nucleotide variant | NM_000410.4(HFE):c.381A>C (p.Gln127His) | 3,077 | HFE | HGNC:4886 | Uncertain significance | 1 | Aug 08, 2024 | 28,934,595 | - | RCV000000034|RCV004766972 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 | Hemochromatosis type 1|not specified | germline | germline | GRCh38 | NC_000006.12 | 6 | 26,091,354 | 26,091,354 | na | na | 6p22.2 | criteria provided, single submitter | 2 | ACMG2021,ACMG2022 | N | ClinGen:CA280945,UniProtKB:Q30201#VAR_008113,OMIM:613609.0007 | 3 | 17 | 26,091,354 | A | C | - | - | - | - | - | - | SCV005380802 | - | - |
15,057 | single nucleotide variant | NM_000410.4(HFE):c.989G>T (p.Arg330Met) | 3,077 | HFE | HGNC:4886 | Pathogenic | 1 | Aug 01, 1999 | 111,033,558 | - | RCV000000035 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 | Hemochromatosis type 1 | germline | germline | GRCh37 | NC_000006.11 | 6 | 26,093,443 | 26,093,443 | na | na | 6p22.2 | no assertion criteria provided | 1 | ACMG2021,ACMG2022 | N | ClinGen:CA280947,UniProtKB:Q30201#VAR_008114,OMIM:613609.0008 | 1 | 18 | 26,093,443 | G | T | - | - | - | - | - | - | SCV000020178 | - | - |
15,057 | single nucleotide variant | NM_000410.4(HFE):c.989G>T (p.Arg330Met) | 3,077 | HFE | HGNC:4886 | Pathogenic | 1 | Aug 01, 1999 | 111,033,558 | - | RCV000000035 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 | Hemochromatosis type 1 | germline | germline | GRCh38 | NC_000006.12 | 6 | 26,093,215 | 26,093,215 | na | na | 6p22.2 | no assertion criteria provided | 1 | ACMG2021,ACMG2022 | N | ClinGen:CA280947,UniProtKB:Q30201#VAR_008114,OMIM:613609.0008 | 1 | 18 | 26,093,215 | G | T | - | - | - | - | - | - | SCV000020178 | - | - |
15,058 | single nucleotide variant | NM_000410.4(HFE):c.848A>C (p.Gln283Pro) | 3,077 | HFE | HGNC:4886 | Pathogenic/Likely pathogenic | 1 | Jun 11, 2025 | 111,033,563 | - | RCV000000036|RCV001050090|RCV003884332|RCV005229758 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:C3661900|MedGen:C1135954 | Hemochromatosis type 1|Hereditary hemochromatosis|not provided|Incidental Discovery | germline | germline | GRCh37 | NC_000006.11 | 6 | 26,093,144 | 26,093,144 | na | na | 6p22.2 | criteria provided, multiple submitters, no conflicts | 5 | ACMG2021,ACMG2022 | N | ClinGen:CA280949,UniProtKB:Q30201#VAR_037304,OMIM:613609.0011 | 3 | 19 | 26,093,144 | A | C | - | - | - | - | - | - | SCV001214178|SCV004028688|SCV004702708|SCV005875314 | - | - |
15,058 | single nucleotide variant | NM_000410.4(HFE):c.848A>C (p.Gln283Pro) | 3,077 | HFE | HGNC:4886 | Pathogenic/Likely pathogenic | 1 | Jun 11, 2025 | 111,033,563 | - | RCV000000036|RCV001050090|RCV003884332|RCV005229758 | MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:C3661900|MedGen:C1135954 | Hemochromatosis type 1|Hereditary hemochromatosis|not provided|Incidental Discovery | germline | germline | GRCh38 | NC_000006.12 | 6 | 26,092,916 | 26,092,916 | na | na | 6p22.2 | criteria provided, multiple submitters, no conflicts | 5 | ACMG2021,ACMG2022 | N | ClinGen:CA280949,UniProtKB:Q30201#VAR_037304,OMIM:613609.0011 | 3 | 19 | 26,092,916 | A | C | - | - | - | - | - | - | SCV001214178|SCV004028688|SCV004702708|SCV005875314 | - | - |
15,059 | single nucleotide variant | NM_020779.4(WDR35):c.25-2A>G | 57,539 | WDR35 | HGNC:29250 | Pathogenic | 1 | Sep 10, 2010 | 397,515,534 | - | RCV000000037 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 | Cranioectodermal dysplasia 2 | germline | germline | GRCh37 | NC_000002.11 | 2 | 20,189,045 | 20,189,045 | na | na | 2p24.1 | no assertion criteria provided | 1 | - | N | ClinGen:CA113807,OMIM:613602.0001 | 1 | 20 | 20,189,045 | T | C | - | - | - | - | - | - | SCV000020180 | - | - |
15,059 | single nucleotide variant | NM_020779.4(WDR35):c.25-2A>G | 57,539 | WDR35 | HGNC:29250 | Pathogenic | 1 | Sep 10, 2010 | 397,515,534 | - | RCV000000037 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 | Cranioectodermal dysplasia 2 | germline | germline | GRCh38 | NC_000002.12 | 2 | 19,989,284 | 19,989,284 | na | na | 2p24.1 | no assertion criteria provided | 1 | - | N | ClinGen:CA113807,OMIM:613602.0001 | 1 | 20 | 19,989,284 | T | C | - | - | - | - | - | - | SCV000020180 | - | - |
15,060 | single nucleotide variant | NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) | 57,539 | WDR35 | HGNC:29250 | Pathogenic | 1 | Sep 10, 2010 | 267,607,174 | - | RCV000000038 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 | Cranioectodermal dysplasia 2 | germline;unknown | germline | GRCh37 | NC_000002.11 | 2 | 20,145,548 | 20,145,548 | na | na | 2p24.1 | no assertion criteria provided | 2 | - | N | ClinGen:CA339780,UniProtKB:Q9P2L0#VAR_064581,OMIM:613602.0002 | 1 | 21 | 20,145,548 | T | C | - | - | - | - | - | - | SCV000020181 | - | - |
15,060 | single nucleotide variant | NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) | 57,539 | WDR35 | HGNC:29250 | Pathogenic | 1 | Sep 10, 2010 | 267,607,174 | - | RCV000000038 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 | Cranioectodermal dysplasia 2 | germline;unknown | germline | GRCh38 | NC_000002.12 | 2 | 19,945,787 | 19,945,787 | na | na | 2p24.1 | no assertion criteria provided | 2 | - | N | ClinGen:CA339780,UniProtKB:Q9P2L0#VAR_064581,OMIM:613602.0002 | 1 | 21 | 19,945,787 | T | C | - | - | - | - | - | - | SCV000020181 | - | - |
15,061 | Deletion | NM_020779.4(WDR35):c.2858del (p.Pro953fs) | 57,539 | WDR35 | HGNC:29250 | Pathogenic | 1 | Jan 06, 2024 | 397,515,334 | - | RCV000000039|RCV005024976 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271;MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 | Cranioectodermal dysplasia 2|Short-rib thoracic dysplasia 7 with or without polydactyly;Cranioectodermal dysplasia 2 | germline | germline | GRCh37 | NC_000002.11 | 2 | 20,131,136 | 20,131,136 | na | na | 2p24.1 | criteria provided, single submitter | 2 | - | N | ClinGen:CA339781,OMIM:613602.0003 | 3 | 22 | 20,131,135 | AG | A | - | - | - | - | - | - | SCV005654889 | - | - |
15,061 | Deletion | NM_020779.4(WDR35):c.2858del (p.Pro953fs) | 57,539 | WDR35 | HGNC:29250 | Pathogenic | 1 | Jan 06, 2024 | 397,515,334 | - | RCV000000039|RCV005024976 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271;MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 | Cranioectodermal dysplasia 2|Short-rib thoracic dysplasia 7 with or without polydactyly;Cranioectodermal dysplasia 2 | germline | germline | GRCh38 | NC_000002.12 | 2 | 19,931,375 | 19,931,375 | na | na | 2p24.1 | criteria provided, single submitter | 2 | - | N | ClinGen:CA339781,OMIM:613602.0003 | 3 | 22 | 19,931,374 | AG | A | - | - | - | - | - | - | SCV005654889 | - | - |
15,062 | single nucleotide variant | NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) | 57,539 | WDR35 | HGNC:29250 | Likely pathogenic | 1 | May 25, 2017 | 267,607,175 | - | RCV000000040|RCV000508347 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MedGen:C3661900 | Cranioectodermal dysplasia 2|not provided | germline | germline | GRCh37 | NC_000002.11 | 2 | 20,133,230 | 20,133,230 | na | na | 2p24.1 | criteria provided, single submitter | 2 | - | N | ClinGen:CA339782,UniProtKB:Q9P2L0#VAR_064582,OMIM:613602.0004 | 3 | 23 | 20,133,230 | C | T | - | - | - | - | - | - | SCV000605607 | - | - |
15,062 | single nucleotide variant | NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) | 57,539 | WDR35 | HGNC:29250 | Likely pathogenic | 1 | May 25, 2017 | 267,607,175 | - | RCV000000040|RCV000508347 | MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MedGen:C3661900 | Cranioectodermal dysplasia 2|not provided | germline | germline | GRCh38 | NC_000002.12 | 2 | 19,933,469 | 19,933,469 | na | na | 2p24.1 | criteria provided, single submitter | 2 | - | N | ClinGen:CA339782,UniProtKB:Q9P2L0#VAR_064582,OMIM:613602.0004 | 3 | 23 | 19,933,469 | C | T | - | - | - | - | - | - | SCV000605607 | - | - |
15,063 | Indel | NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Jun 24, 2025 | 1,555,813,914 | - | RCV000000041|RCV000522470 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 | PHARC syndrome|not provided | germline | germline | GRCh37 | NC_000020.10 | 20 | 25,304,045 | 25,304,046 | na | na | 20p11.21 | criteria provided, single submitter | 2 | - | N | ClinGen:CA113808,OMIM:613599.0001 | 3 | 24 | 25,304,045 | TC | AAA | - | - | - | - | - | - | SCV000617636 | - | - |
15,063 | Indel | NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Jun 24, 2025 | 1,555,813,914 | - | RCV000000041|RCV000522470 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 | PHARC syndrome|not provided | germline | germline | GRCh38 | NC_000020.11 | 20 | 25,323,409 | 25,323,410 | na | na | 20p11.21 | criteria provided, single submitter | 2 | - | N | ClinGen:CA113808,OMIM:613599.0001 | 3 | 24 | 25,323,409 | TC | AAA | - | - | - | - | - | - | SCV000617636 | - | - |
15,064 | Indel | NM_015600.4(ABHD12):c.-6898_191+7002delinsCC | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Sep 10, 2010 | -1 | nsv1067853 | RCV000000042 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 | PHARC syndrome | germline | germline | GRCh37 | NC_000020.10 | 20 | 25,364,147 | 25,378,237 | na | GG | 20p11.21 | no assertion criteria provided | 1 | - | N | dbVar:nssv3761628,OMIM:613599.0002 | 1 | 25 | -1 | na | na | - | - | - | - | - | - | SCV000020185 | - | - |
15,064 | Indel | NM_015600.4(ABHD12):c.-6898_191+7002delinsCC | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Sep 10, 2010 | -1 | nsv1067853 | RCV000000042 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 | PHARC syndrome | germline | germline | GRCh38 | NC_000020.11 | 20 | 25,383,511 | 25,397,601 | na | GG | 20p11.21 | no assertion criteria provided | 1 | - | N | dbVar:nssv3761628,OMIM:613599.0002 | 1 | 25 | -1 | na | na | - | - | - | - | - | - | SCV000020185 | - | - |
15,065 | Duplication | NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Sep 10, 2010 | 397,704,714 | - | RCV000000043 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 | PHARC syndrome | germline | germline | GRCh37 | NC_000020.10 | 20 | 25,288,616 | 25,288,617 | na | na | 20p11.21 | no assertion criteria provided | 1 | - | N | ClinGen:CA113810,OMIM:613599.0003 | 1 | 26 | 25,288,616 | G | GGCTCTTA | - | - | - | - | - | - | SCV000020186 | - | - |
15,065 | Duplication | NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Sep 10, 2010 | 397,704,714 | - | RCV000000043 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 | PHARC syndrome | germline | germline | GRCh38 | NC_000020.11 | 20 | 25,307,980 | 25,307,981 | na | na | 20p11.21 | no assertion criteria provided | 1 | - | N | ClinGen:CA113810,OMIM:613599.0003 | 1 | 26 | 25,307,980 | G | GGCTCTTA | - | - | - | - | - | - | SCV000020186 | - | - |
15,066 | single nucleotide variant | NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Sep 10, 2025 | 267,606,624 | - | RCV000000044|RCV001208516 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 | PHARC syndrome|not provided | germline | germline | GRCh37 | NC_000020.10 | 20 | 25,282,958 | 25,282,958 | na | na | 20p11.21 | criteria provided, multiple submitters, no conflicts | 5 | - | N | ClinGen:CA113811,OMIM:613599.0004 | 3 | 27 | 25,282,958 | G | A | - | - | - | - | - | - | SCV001379909|SCV002061204|SCV004152554|SCV004803766 | - | - |
15,066 | single nucleotide variant | NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) | 26,090 | ABHD12 | HGNC:15868 | Pathogenic | 1 | Sep 10, 2025 | 267,606,624 | - | RCV000000044|RCV001208516 | MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 | PHARC syndrome|not provided | germline | germline | GRCh38 | NC_000020.11 | 20 | 25,302,322 | 25,302,322 | na | na | 20p11.21 | criteria provided, multiple submitters, no conflicts | 5 | - | N | ClinGen:CA113811,OMIM:613599.0004 | 3 | 27 | 25,302,322 | G | A | - | - | - | - | - | - | SCV001379909|SCV002061204|SCV004152554|SCV004803766 | - | - |
15,067 | single nucleotide variant | NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg) | 130,557 | ZNF513 | HGNC:26498 | Conflicting classifications of pathogenicity | 1 | Jun 10, 2025 | 267,607,182 | - | RCV000000045|RCV001239265 | MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791|MedGen:C3661900 | Retinitis pigmentosa 58|not provided | germline;not applicable | germline | GRCh37 | NC_000002.11 | 2 | 27,601,023 | 27,601,023 | na | na | 2p23.3 | criteria provided, conflicting classifications | 3 | - | N | ClinGen:CA251354,UniProtKB:Q8N8E2#VAR_064926,OMIM:613598.0001 | 3 | 28 | 27,601,023 | A | G | - | - | - | - | - | - | SCV001412123|SCV006080851 | - | - |
15,067 | single nucleotide variant | NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg) | 130,557 | ZNF513 | HGNC:26498 | Conflicting classifications of pathogenicity | 1 | Jun 10, 2025 | 267,607,182 | - | RCV000000045|RCV001239265 | MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791|MedGen:C3661900 | Retinitis pigmentosa 58|not provided | germline;not applicable | germline | GRCh38 | NC_000002.12 | 2 | 27,378,156 | 27,378,156 | na | na | 2p23.3 | criteria provided, conflicting classifications | 3 | - | N | ClinGen:CA251354,UniProtKB:Q8N8E2#VAR_064926,OMIM:613598.0001 | 3 | 28 | 27,378,156 | A | G | - | - | - | - | - | - | SCV001412123|SCV006080851 | - | - |
15,068 | Microsatellite | NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | Jan 20, 2026 | 397,509,360 | - | RCV000000046|RCV000815800|RCV003415590 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| | Primary hyperoxaluria type 3|not provided|HOGA1-related disorder | germline;unknown | germline | GRCh37 | NC_000010.10 | 10 | 99,371,369 | 99,371,371 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 19 | - | N | ClinGen:CA339783,OMIM:613597.0001 | 3 | 29 | 99,371,368 | TGAG | T | - | - | - | - | - | - | SCV000239858|SCV000245619|SCV000915489|SCV000956272|SCV001193889|SCV001455555|SCV001752540|SCV001784510|SCV002025009|SCV003923285|SCV004115278|SCV004809364|SCV005051838|SCV005093523|SCV005918500|SCV007096343 | - | - |
15,068 | Microsatellite | NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | Jan 20, 2026 | 397,509,360 | - | RCV000000046|RCV000815800|RCV003415590 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| | Primary hyperoxaluria type 3|not provided|HOGA1-related disorder | germline;unknown | germline | GRCh38 | NC_000010.11 | 10 | 97,611,612 | 97,611,614 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 19 | - | N | ClinGen:CA339783,OMIM:613597.0001 | 3 | 29 | 97,611,611 | TGAG | T | - | - | - | - | - | - | SCV000239858|SCV000245619|SCV000915489|SCV000956272|SCV001193889|SCV001455555|SCV001752540|SCV001784510|SCV002025009|SCV003923285|SCV004115278|SCV004809364|SCV005051838|SCV005093523|SCV005918500|SCV007096343 | - | - |
15,069 | single nucleotide variant | NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic | 1 | Nov 18, 2025 | 138,207,257 | - | RCV000000047|RCV000798240 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 | Primary hyperoxaluria type 3|not provided | germline;unknown | germline | GRCh37 | NC_000010.10 | 10 | 99,371,292 | 99,371,292 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 12 | - | N | UniProtKB:Q86XE5#VAR_064036,OMIM:613597.0002,ClinGen:CA113813 | 3 | 30 | 99,371,292 | G | T | - | - | - | - | - | - | SCV000915488|SCV000937843|SCV001455553|SCV002555640|SCV003825201|SCV004035551|SCV005678532|SCV005918499|SCV007096340 | - | - |
15,069 | single nucleotide variant | NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic | 1 | Nov 18, 2025 | 138,207,257 | - | RCV000000047|RCV000798240 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 | Primary hyperoxaluria type 3|not provided | germline;unknown | germline | GRCh38 | NC_000010.11 | 10 | 97,611,535 | 97,611,535 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 12 | - | N | UniProtKB:Q86XE5#VAR_064036,OMIM:613597.0002,ClinGen:CA113813 | 3 | 30 | 97,611,535 | G | T | - | - | - | - | - | - | SCV000915488|SCV000937843|SCV001455553|SCV002555640|SCV003825201|SCV004035551|SCV005678532|SCV005918499|SCV007096340 | - | - |
15,070 | single nucleotide variant | NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | Jun 05, 2025 | 267,606,762 | - | RCV000000048|RCV001059730|RCV003415591 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| | Primary hyperoxaluria type 3|not provided|HOGA1-related disorder | germline;unknown | germline | GRCh37 | NC_000010.10 | 10 | 99,358,609 | 99,358,609 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 10 | - | N | ClinGen:CA113814,OMIM:613597.0003 | 3 | 31 | 99,358,609 | C | T | - | - | - | - | - | - | SCV000239836|SCV001224374|SCV001453551|SCV004113706|SCV005051837|SCV005678495|SCV005918496|SCV007121354 | - | - |
15,070 | single nucleotide variant | NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | Jun 05, 2025 | 267,606,762 | - | RCV000000048|RCV001059730|RCV003415591 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| | Primary hyperoxaluria type 3|not provided|HOGA1-related disorder | germline;unknown | germline | GRCh38 | NC_000010.11 | 10 | 97,598,852 | 97,598,852 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 10 | - | N | ClinGen:CA113814,OMIM:613597.0003 | 3 | 31 | 97,598,852 | C | T | - | - | - | - | - | - | SCV000239836|SCV001224374|SCV001453551|SCV004113706|SCV005051837|SCV005678495|SCV005918496|SCV007121354 | - | - |
15,071 | single nucleotide variant | NM_138413.4(HOGA1):c.700+4G>T | 112,817 | HOGA1 | HGNC:25155 | Pathogenic | 1 | Sep 10, 2010 | 2,041,105,506 | - | RCV000000049 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600 | Primary hyperoxaluria type 3 | germline | germline | GRCh37 | NC_000010.10 | 10 | 99,359,924 | 99,359,924 | na | na | 10q24.2 | no assertion criteria provided | 1 | - | N | ClinGen:CA916083161,LOVD 3:HOGA1_000005,OMIM:613597.0004 | 1 | 32 | 99,359,924 | G | T | - | - | - | - | - | - | SCV000020192 | - | - |
15,071 | single nucleotide variant | NM_138413.4(HOGA1):c.700+4G>T | 112,817 | HOGA1 | HGNC:25155 | Pathogenic | 1 | Sep 10, 2010 | 2,041,105,506 | - | RCV000000049 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600 | Primary hyperoxaluria type 3 | germline | germline | GRCh38 | NC_000010.11 | 10 | 97,600,167 | 97,600,167 | na | na | 10q24.2 | no assertion criteria provided | 1 | - | N | ClinGen:CA916083161,LOVD 3:HOGA1_000005,OMIM:613597.0004 | 1 | 32 | 97,600,167 | G | T | - | - | - | - | - | - | SCV000020192 | - | - |
15,072 | single nucleotide variant | NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | May 21, 2024 | 267,606,763 | - | RCV000000050|RCV001387338 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 | Primary hyperoxaluria type 3|not provided | germline | germline | GRCh37 | NC_000010.10 | 10 | 99,344,669 | 99,344,669 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 4 | - | N | ClinGen:CA113816,OMIM:613597.0005 | 3 | 33 | 99,344,669 | G | C | - | - | - | - | - | - | SCV001587942|SCV007534596 | - | - |
15,072 | single nucleotide variant | NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | May 21, 2024 | 267,606,763 | - | RCV000000050|RCV001387338 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 | Primary hyperoxaluria type 3|not provided | germline | germline | GRCh38 | NC_000010.11 | 10 | 97,584,912 | 97,584,912 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 4 | - | N | ClinGen:CA113816,OMIM:613597.0005 | 3 | 33 | 97,584,912 | G | C | - | - | - | - | - | - | SCV001587942|SCV007534596 | - | - |
15,073 | single nucleotide variant | NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | Oct 03, 2025 | 267,606,764 | - | RCV000000051|RCV000994489 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 | Primary hyperoxaluria type 3|not provided | germline;maternal;paternal | germline | GRCh37 | NC_000010.10 | 10 | 99,361,682 | 99,361,682 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 11 | - | N | ClinGen:CA113818,UniProtKB:Q86XE5#VAR_064035,OMIM:613597.0006 | 3 | 34 | 99,361,682 | T | G | - | - | - | - | - | - | SCV000239844|SCV001148059|SCV001198026|SCV002050982|SCV002812678|SCV004236178|SCV005415682|SCV007096337|SCV007533251 | - | - |
15,073 | single nucleotide variant | NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) | 112,817 | HOGA1 | HGNC:25155 | Pathogenic/Likely pathogenic | 1 | Oct 03, 2025 | 267,606,764 | - | RCV000000051|RCV000994489 | MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 | Primary hyperoxaluria type 3|not provided | germline;maternal;paternal | germline | GRCh38 | NC_000010.11 | 10 | 97,601,925 | 97,601,925 | na | na | 10q24.2 | criteria provided, multiple submitters, no conflicts | 11 | - | N | ClinGen:CA113818,UniProtKB:Q86XE5#VAR_064035,OMIM:613597.0006 | 3 | 34 | 97,601,925 | T | G | - | - | - | - | - | - | SCV000239844|SCV001148059|SCV001198026|SCV002050982|SCV002812678|SCV004236178|SCV005415682|SCV007096337|SCV007533251 | - | - |
15,074 | single nucleotide variant | NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Jan 19, 2026 | 267,606,794 | - | RCV000000052|RCV001074032|RCV001090971|RCV001257835 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900... | Retinitis pigmentosa 28|Retinal dystrophy|not provided|Autosomal recessive retinitis pigmentosa | germline;unknown | germline | GRCh37 | NC_000002.11 | 2 | 62,067,454 | 62,067,454 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 11 | - | N | ClinGen:CA251355,OMIM:613596.0001 | 3 | 35 | 62,067,454 | G | A | - | - | - | - | - | - | SCV001239599|SCV001246773|SCV001586471|SCV001905557|SCV003821926|SCV004195967|SCV005415484|SCV005657110 | - | - |
15,074 | single nucleotide variant | NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Jan 19, 2026 | 267,606,794 | - | RCV000000052|RCV001074032|RCV001090971|RCV001257835 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900... | Retinitis pigmentosa 28|Retinal dystrophy|not provided|Autosomal recessive retinitis pigmentosa | germline;unknown | germline | GRCh38 | NC_000002.12 | 2 | 61,840,319 | 61,840,319 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 11 | - | N | ClinGen:CA251355,OMIM:613596.0001 | 3 | 35 | 61,840,319 | G | A | - | - | - | - | - | - | SCV001239599|SCV001246773|SCV001586471|SCV001905557|SCV003821926|SCV004195967|SCV005415484|SCV005657110 | - | - |
15,075 | single nucleotide variant | NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Jan 15, 2026 | 200,691,042 | - | RCV000000053|RCV000153226|RCV000678572|RCV000778621|RCV000787604 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|Human Phenotype Ont... | Retinitis pigmentosa 28|not provided|Cone-rod dystrophy|Retinitis pigmentosa|Retinal dystrophy | germline;inherited;unknown | germline | GRCh37 | NC_000002.11 | 2 | 62,066,830 | 62,066,830 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 23 | - | N | ClinGen:CA233978,OMIM:613596.0002 | 3 | 36 | 62,066,830 | T | A | - | - | - | - | - | - | SCV000229237|SCV000329583|SCV000894286|SCV000914934|SCV000943915|SCV001239108|SCV001246771|SCV001452512|SCV001527850|SCV001573614|SCV001760093|SCV001905556|SCV001950276|SCV002022279|SCV002556624|SCV005071881|SCV007100181 | - | - |
15,075 | single nucleotide variant | NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Jan 15, 2026 | 200,691,042 | - | RCV000000053|RCV000153226|RCV000678572|RCV000778621|RCV000787604 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|Human Phenotype Ont... | Retinitis pigmentosa 28|not provided|Cone-rod dystrophy|Retinitis pigmentosa|Retinal dystrophy | germline;inherited;unknown | germline | GRCh38 | NC_000002.12 | 2 | 61,839,695 | 61,839,695 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 23 | - | N | ClinGen:CA233978,OMIM:613596.0002 | 3 | 36 | 61,839,695 | T | A | - | - | - | - | - | - | SCV000229237|SCV000329583|SCV000894286|SCV000914934|SCV000943915|SCV001239108|SCV001246771|SCV001452512|SCV001527850|SCV001573614|SCV001760093|SCV001905556|SCV001950276|SCV002022279|SCV002556624|SCV005071881|SCV007100181 | - | - |
15,076 | Deletion | NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Dec 14, 2025 | 397,704,718 | - | RCV000000054|RCV000414251|RCV001003032|RCV001073488 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Pheno... | Retinitis pigmentosa 28|not provided|Retinitis pigmentosa|Retinal dystrophy | germline;inherited;unknown | germline | GRCh37 | NC_000002.11 | 2 | 62,066,783 | 62,066,784 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 17 | - | N | ClinGen:CA251357,OMIM:613596.0003 | 3 | 37 | 62,066,782 | CTG | C | - | - | - | - | - | - | SCV000491227|SCV000702695|SCV000937916|SCV001239031|SCV001452510|SCV001573272|SCV002788819|SCV004195924|SCV004698856|SCV005071131|SCV005620145|SCV005905983|SCV006315537 | - | - |
15,076 | Deletion | NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Dec 14, 2025 | 397,704,718 | - | RCV000000054|RCV000414251|RCV001003032|RCV001073488 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Pheno... | Retinitis pigmentosa 28|not provided|Retinitis pigmentosa|Retinal dystrophy | germline;inherited;unknown | germline | GRCh38 | NC_000002.12 | 2 | 61,839,648 | 61,839,649 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 17 | - | N | ClinGen:CA251357,OMIM:613596.0003 | 3 | 37 | 61,839,647 | CTG | C | - | - | - | - | - | - | SCV000491227|SCV000702695|SCV000937916|SCV001239031|SCV001452510|SCV001573272|SCV002788819|SCV004195924|SCV004698856|SCV005071131|SCV005620145|SCV005905983|SCV006315537 | - | - |
15,077 | single nucleotide variant | NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Nov 04, 2025 | 202,193,201 | - | RCV000000055|RCV000787606|RCV000790648|RCV001003031 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900... | Retinitis pigmentosa 28|Retinal dystrophy|not provided|Retinitis pigmentosa | germline;inherited;unknown | germline | GRCh37 | NC_000002.11 | 2 | 62,066,572 | 62,066,572 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 17 | - | N | ClinGen:CA233972,OMIM:613596.0004 | 3 | 38 | 62,066,572 | G | A | - | - | - | - | - | - | SCV000229236|SCV001239774|SCV001586470|SCV001950275|SCV002076600|SCV002511622|SCV004042074|SCV004195925|SCV005201361|SCV005657098 | - | - |
15,077 | single nucleotide variant | NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Nov 04, 2025 | 202,193,201 | - | RCV000000055|RCV000787606|RCV000790648|RCV001003031 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900... | Retinitis pigmentosa 28|Retinal dystrophy|not provided|Retinitis pigmentosa | germline;inherited;unknown | germline | GRCh38 | NC_000002.12 | 2 | 61,839,437 | 61,839,437 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 17 | - | N | ClinGen:CA233972,OMIM:613596.0004 | 3 | 38 | 61,839,437 | G | A | - | - | - | - | - | - | SCV000229236|SCV001239774|SCV001586470|SCV001950275|SCV002076600|SCV002511622|SCV004042074|SCV004195925|SCV005201361|SCV005657098 | - | - |
15,078 | single nucleotide variant | NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Sep 15, 2025 | 267,606,793 | - | RCV000000056|RCV001054497 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900 | Retinitis pigmentosa 28|not provided | germline | germline | GRCh37 | NC_000002.11 | 2 | 62,063,210 | 62,063,210 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 3 | - | N | ClinGen:CA251358,OMIM:613596.0005 | 3 | 39 | 62,063,210 | G | A | - | - | - | - | - | - | SCV001218814|SCV002076591 | - | - |
15,078 | single nucleotide variant | NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter) | 84,140 | FAM161A | HGNC:25808 | Pathogenic | 1 | Sep 15, 2025 | 267,606,793 | - | RCV000000056|RCV001054497 | MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900 | Retinitis pigmentosa 28|not provided | germline | germline | GRCh38 | NC_000002.12 | 2 | 61,836,075 | 61,836,075 | na | na | 2p15 | criteria provided, multiple submitters, no conflicts | 3 | - | N | ClinGen:CA251358,OMIM:613596.0005 | 3 | 39 | 61,836,075 | G | A | - | - | - | - | - | - | SCV001218814|SCV002076591 | - | - |
15,079 | Deletion | NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 397,704,721 | - | RCV000000057 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh37 | NC_000019.9 | 19 | 36,595,471 | 36,595,474 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251360,OMIM:613583.0001 | 1 | 40 | 36,595,470 | GTGCC | G | - | - | - | - | - | - | SCV000020200 | - | - |
15,079 | Deletion | NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 397,704,721 | - | RCV000000057 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh38 | NC_000019.10 | 19 | 36,104,569 | 36,104,572 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251360,OMIM:613583.0001 | 1 | 40 | 36,104,568 | GTGCC | G | - | - | - | - | - | - | SCV000020200 | - | - |
15,080 | single nucleotide variant | NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) | 284,403 | WDR62 | HGNC:24502 | Uncertain significance | 1 | Dec 15, 2025 | 147,875,659 | - | RCV000000058|RCV000489330|RCV001174806|RCV002512586 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512|MedGen:C3661900|MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512|MeSH:D030342,MedGen:C0950123 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided|Autosomal recessive primary microcephaly|Inborn genetic diseases | germline;unknown | germline | GRCh37 | NC_000019.9 | 19 | 36,575,580 | 36,575,580 | na | na | 19q13.12 | criteria provided, multiple submitters, no conflicts | 11 | - | N | OMIM:613583.0002,ClinGen:CA239800,UniProtKB:O43379#VAR_063703 | 3 | 41 | 36,575,580 | G | A | - | - | - | - | - | - | SCV000195410|SCV000225557|SCV000576907|SCV001523667|SCV001712987|SCV003275430|SCV003687735|SCV003823722|SCV004801176 | - | - |
15,080 | single nucleotide variant | NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) | 284,403 | WDR62 | HGNC:24502 | Uncertain significance | 1 | Dec 15, 2025 | 147,875,659 | - | RCV000000058|RCV000489330|RCV001174806|RCV002512586 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512|MedGen:C3661900|MONDO:MONDO:0016660,MedGen:C3711387,OMIM:PS251200,Orphanet:2512|MeSH:D030342,MedGen:C0950123 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided|Autosomal recessive primary microcephaly|Inborn genetic diseases | germline;unknown | germline | GRCh38 | NC_000019.10 | 19 | 36,084,678 | 36,084,678 | na | na | 19q13.12 | criteria provided, multiple submitters, no conflicts | 11 | - | N | OMIM:613583.0002,ClinGen:CA239800,UniProtKB:O43379#VAR_063703 | 3 | 41 | 36,084,678 | G | A | - | - | - | - | - | - | SCV000195410|SCV000225557|SCV000576907|SCV001523667|SCV001712987|SCV003275430|SCV003687735|SCV003823722|SCV004801176 | - | - |
15,081 | single nucleotide variant | NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 267,607,176 | - | RCV000000059 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh37 | NC_000019.9 | 19 | 36,558,317 | 36,558,317 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251361,UniProtKB:O43379#VAR_063702,OMIM:613583.0003 | 1 | 42 | 36,558,317 | G | C | - | - | - | - | - | - | SCV000020202 | - | - |
15,081 | single nucleotide variant | NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 267,607,176 | - | RCV000000059 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh38 | NC_000019.10 | 19 | 36,067,415 | 36,067,415 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251361,UniProtKB:O43379#VAR_063702,OMIM:613583.0003 | 1 | 42 | 36,067,415 | G | C | - | - | - | - | - | - | SCV000020202 | - | - |
15,082 | single nucleotide variant | NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 267,607,177 | - | RCV000000060 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh37 | NC_000019.9 | 19 | 36,574,001 | 36,574,001 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251363,OMIM:613583.0004 | 1 | 43 | 36,574,001 | C | T | - | - | - | - | - | - | SCV000020203 | - | - |
15,082 | single nucleotide variant | NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 267,607,177 | - | RCV000000060 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh38 | NC_000019.10 | 19 | 36,083,099 | 36,083,099 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251363,OMIM:613583.0004 | 1 | 43 | 36,083,099 | C | T | - | - | - | - | - | - | SCV000020203 | - | - |
15,083 | Deletion | NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 397,704,725 | - | RCV000000061 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh37 | NC_000019.9 | 19 | 36,594,568 | 36,594,584 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251365,OMIM:613583.0005 | 1 | 44 | 36,594,567 | GGGCCAAGAGCCTGCCCT | G | - | - | - | - | - | - | SCV000020204 | - | - |
15,083 | Deletion | NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) | 284,403 | WDR62 | HGNC:24502 | Pathogenic | 1 | Sep 09, 2010 | 397,704,725 | - | RCV000000061 | MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | germline | germline | GRCh38 | NC_000019.10 | 19 | 36,103,666 | 36,103,682 | na | na | 19q13.12 | no assertion criteria provided | 1 | - | N | ClinGen:CA251365,OMIM:613583.0005 | 1 | 44 | 36,103,665 | GGGCCAAGAGCCTGCCCT | G | - | - | - | - | - | - | SCV000020204 | - | - |
15,084 | single nucleotide variant | NM_015910.7(WDPCP):c.76-1G>T | 51,057 | WDPCP | HGNC:28027 | Pathogenic | 1 | Sep 10, 2010 | 397,704,728 | - | RCV000000062 | MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110 | Bardet-Biedl syndrome 15 | germline | germline | GRCh37 | NC_000002.11 | 2 | 63,720,075 | 63,720,075 | na | na | 2p15 | no assertion criteria provided | 1 | - | N | ClinGen:CA251366,OMIM:613580.0001 | 1 | 45 | 63,720,075 | C | A | - | - | - | - | - | - | SCV000020205 | - | - |
15,084 | single nucleotide variant | NM_015910.7(WDPCP):c.76-1G>T | 51,057 | WDPCP | HGNC:28027 | Pathogenic | 1 | Sep 10, 2010 | 397,704,728 | - | RCV000000062 | MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110 | Bardet-Biedl syndrome 15 | germline | germline | GRCh38 | NC_000002.12 | 2 | 63,492,941 | 63,492,941 | na | na | 2p15 | no assertion criteria provided | 1 | - | N | ClinGen:CA251366,OMIM:613580.0001 | 1 | 45 | 63,492,941 | C | A | - | - | - | - | - | - | SCV000020205 | - | - |
15,085 | single nucleotide variant | NM_015910.7(WDPCP):c.624G>C (p.Leu208Phe) | 51,057 | WDPCP | HGNC:28027 | risk factor | 0 | Sep 10, 2010 | 267,606,692 | - | RCV000000063 | - | Bardet-Biedl syndrome 12, modifier of | germline | germline | GRCh37 | NC_000002.11 | 2 | 63,664,564 | 63,664,564 | na | na | 2p15 | no assertion criteria provided | 1 | - | N | ClinGen:CA113819,OMIM:613580.0002 | 1 | 46 | 63,664,564 | C | G | - | - | - | - | - | - | SCV000020206 | - | - |
15,085 | single nucleotide variant | NM_015910.7(WDPCP):c.624G>C (p.Leu208Phe) | 51,057 | WDPCP | HGNC:28027 | risk factor | 0 | Sep 10, 2010 | 267,606,692 | - | RCV000000063 | - | Bardet-Biedl syndrome 12, modifier of | germline | germline | GRCh38 | NC_000002.12 | 2 | 63,437,430 | 63,437,430 | na | na | 2p15 | no assertion criteria provided | 1 | - | N | ClinGen:CA113819,OMIM:613580.0002 | 1 | 46 | 63,437,430 | C | G | - | - | - | - | - | - | SCV000020206 | - | - |
15,086 | single nucleotide variant | NM_015910.7(WDPCP):c.164G>A (p.Arg55Lys) | 51,057 | WDPCP | HGNC:28027 | risk factor | 0 | Sep 10, 2010 | 267,606,693 | - | RCV000000064 | - | Meckel syndrome, type 6, modifier of | germline | germline | GRCh37 | NC_000002.11 | 2 | 63,714,625 | 63,714,625 | na | na | 2p15 | no assertion criteria provided | 1 | - | N | OMIM:613580.0003,ClinGen:CA113821,UniProtKB:O95876#VAR_064770 | 1 | 47 | 63,714,625 | C | T | - | - | - | - | - | - | SCV000020207 | - | - |
15,086 | single nucleotide variant | NM_015910.7(WDPCP):c.164G>A (p.Arg55Lys) | 51,057 | WDPCP | HGNC:28027 | risk factor | 0 | Sep 10, 2010 | 267,606,693 | - | RCV000000064 | - | Meckel syndrome, type 6, modifier of | germline | germline | GRCh38 | NC_000002.12 | 2 | 63,487,491 | 63,487,491 | na | na | 2p15 | no assertion criteria provided | 1 | - | N | OMIM:613580.0003,ClinGen:CA113821,UniProtKB:O95876#VAR_064770 | 1 | 47 | 63,487,491 | C | T | - | - | - | - | - | - | SCV000020207 | - | - |
15,087 | single nucleotide variant | NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) | 57,465 | TBC1D24 | HGNC:29203 | Pathogenic | 1 | Oct 01, 2025 | 267,607,103 | - | RCV000000065|RCV006263608|RCV006610312 | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C3661900|MedGen:C3661900;MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635;MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | Familial infantile myoclonic epilepsy|not provided|not provided;Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1 | germline | germline | GRCh37 | NC_000016.9 | 16 | 2,546,588 | 2,546,588 | na | na | 16p13.3 | criteria provided, multiple submitters, no conflicts | 4 | - | N | ClinGen:CA339785,UniProtKB:Q9ULP9#VAR_064365,OMIM:613577.0001 | 3 | 48 | 2,546,588 | G | C | - | - | - | - | - | - | SCV002242039|SCV007118779 | - | - |
15,087 | single nucleotide variant | NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) | 57,465 | TBC1D24 | HGNC:29203 | Pathogenic | 1 | Oct 01, 2025 | 267,607,103 | - | RCV000000065|RCV006263608|RCV006610312 | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C3661900|MedGen:C3661900;MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635;MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | Familial infantile myoclonic epilepsy|not provided|not provided;Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1 | germline | germline | GRCh38 | NC_000016.10 | 16 | 2,496,587 | 2,496,587 | na | na | 16p13.3 | criteria provided, multiple submitters, no conflicts | 4 | - | N | ClinGen:CA339785,UniProtKB:Q9ULP9#VAR_064365,OMIM:613577.0001 | 3 | 48 | 2,496,587 | G | C | - | - | - | - | - | - | SCV002242039|SCV007118779 | - | - |
15,088 | single nucleotide variant | NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) | 57,465 | TBC1D24 | HGNC:29203 | Conflicting classifications of pathogenicity | 1 | Jul 21, 2025 | 267,607,105 | - | RCV000000066|RCV000730513|RCV002247226|RCV002399304|RCV006606219 | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500|MeSH:D030342,MedGen:C0950123|MedGen:C3661900;MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635;MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | Familial infantile myoclonic epilepsy|not provided|DOORS syndrome|Inborn genetic diseases|not provided;Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1 | germline | germline | GRCh37 | NC_000016.9 | 16 | 2,550,823 | 2,550,823 | na | na | 16p13.3 | criteria provided, conflicting classifications | 8 | - | N | ClinGen:CA339786,UniProtKB:Q9ULP9#VAR_064367,OMIM:613577.0002 | 3 | 49 | 2,550,823 | C | T | - | - | - | - | - | - | SCV000654198|SCV000858255|SCV001371120|SCV002517440|SCV002552654|SCV002707381 | - | - |
15,088 | single nucleotide variant | NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) | 57,465 | TBC1D24 | HGNC:29203 | Conflicting classifications of pathogenicity | 1 | Jul 21, 2025 | 267,607,105 | - | RCV000000066|RCV000730513|RCV002247226|RCV002399304|RCV006606219 | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500|MeSH:D030342,MedGen:C0950123|MedGen:C3661900;MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635;MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350 | Familial infantile myoclonic epilepsy|not provided|DOORS syndrome|Inborn genetic diseases|not provided;Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1 | germline | germline | GRCh38 | NC_000016.10 | 16 | 2,500,822 | 2,500,822 | na | na | 16p13.3 | criteria provided, conflicting classifications | 8 | - | N | ClinGen:CA339786,UniProtKB:Q9ULP9#VAR_064367,OMIM:613577.0002 | 3 | 49 | 2,500,822 | C | T | - | - | - | - | - | - | SCV000654198|SCV000858255|SCV001371120|SCV002517440|SCV002552654|SCV002707381 | - | - |
15,089 | single nucleotide variant | NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) | 57,465 | TBC1D24 | HGNC:29203 | Pathogenic | 1 | Dec 22, 2014 | 267,607,104 | - | RCV000000067 | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582 | Familial infantile myoclonic epilepsy | germline | germline | GRCh37 | NC_000016.9 | 16 | 2,546,900 | 2,546,900 | na | na | 16p13.3 | no assertion criteria provided | 2 | - | N | ClinGen:CA339788,UniProtKB:Q9ULP9#VAR_064366,OMIM:613577.0003 | 3 | 50 | 2,546,900 | T | C | - | - | - | - | - | - | SCV000020210|SCV000211973 | - | - |
15,089 | single nucleotide variant | NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) | 57,465 | TBC1D24 | HGNC:29203 | Pathogenic | 1 | Dec 22, 2014 | 267,607,104 | - | RCV000000067 | MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582 | Familial infantile myoclonic epilepsy | germline | germline | GRCh38 | NC_000016.10 | 16 | 2,496,899 | 2,496,899 | na | na | 16p13.3 | no assertion criteria provided | 2 | - | N | ClinGen:CA339788,UniProtKB:Q9ULP9#VAR_064366,OMIM:613577.0003 | 3 | 50 | 2,496,899 | T | C | - | - | - | - | - | - | SCV000020210|SCV000211973 | - | - |
15,090 | single nucleotide variant | NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) | 63,929 | XPNPEP3 | HGNC:28052 | Pathogenic | 1 | May 24, 2024 | 267,607,179 | - | RCV000000068 | MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 | Nephronophthisis-like nephropathy 1 | germline | germline | GRCh37 | NC_000022.10 | 22 | 41,320,486 | 41,320,486 | na | na | 22q13.2 | criteria provided, single submitter | 2 | - | N | ClinGen:CA113823,OMIM:613553.0001 | 3 | 51 | 41,320,486 | G | T | - | - | - | - | - | - | SCV005184612 | - | - |
15,090 | single nucleotide variant | NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) | 63,929 | XPNPEP3 | HGNC:28052 | Pathogenic | 1 | May 24, 2024 | 267,607,179 | - | RCV000000068 | MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 | Nephronophthisis-like nephropathy 1 | germline | germline | GRCh38 | NC_000022.11 | 22 | 40,924,482 | 40,924,482 | na | na | 22q13.2 | criteria provided, single submitter | 2 | - | N | ClinGen:CA113823,OMIM:613553.0001 | 3 | 51 | 40,924,482 | G | T | - | - | - | - | - | - | SCV005184612 | - | - |
15,091 | Deletion | NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs) | 63,929 | XPNPEP3 | HGNC:28052 | Pathogenic | 1 | Mar 01, 2010 | 2,146,270,895 | - | RCV000000069 | MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 | Nephronophthisis-like nephropathy 1 | germline | germline | GRCh37 | NC_000022.10 | 22 | 41,305,199 | 41,305,202 | na | na | 22q13.2 | no assertion criteria provided | 1 | - | N | ClinGen:CA2531361391,OMIM:613553.0002 | 1 | 52 | 41,305,198 | TCAAA | T | - | - | - | - | - | - | SCV000020212 | - | - |
15,091 | Deletion | NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs) | 63,929 | XPNPEP3 | HGNC:28052 | Pathogenic | 1 | Mar 01, 2010 | 2,146,270,895 | - | RCV000000069 | MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 | Nephronophthisis-like nephropathy 1 | germline | germline | GRCh38 | NC_000022.11 | 22 | 40,909,195 | 40,909,198 | na | na | 22q13.2 | no assertion criteria provided | 1 | - | N | ClinGen:CA2531361391,OMIM:613553.0002 | 1 | 52 | 40,909,194 | TCAAA | T | - | - | - | - | - | - | SCV000020212 | - | - |
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