Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | GRCh37/hg19 Xp22.31(chrX:6497085-8135053) | -1 | PNPLA4;PUDP;STS;VCX | Pathogenic | -1 | RCV000767690; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6497085 | 8135053 | | | | - | | |
GRCh37/hg19 Xp22.31(chrX:6497085-7910475) | -1 | PNPLA4;PUDP;STS;VCX | Pathogenic | -1 | RCV000767691; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6497085 | 7910475 | | | | - | C0020757 Ichthyosis; | |
GRCh37/hg19 Xp22.31(chrX:6954111-8058641) | -1 | PNPLA4;PUDP;STS;VCX | Pathogenic | -1 | RCV002280615; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6954111 | 8058641 | | | -1 | - | | |
GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1 | -1 | PNPLA4;PUDP;STS;VCX;VCX2 | not provided | -1 | RCV001825213; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6455149 | 8143242 | | | -1 | - | | |
GRCh37/hg19 Xp22.31(chrX:6968337-8434424) | -1 | PNPLA4;PUDP;STS;VCX;VCX2;VCX3B | Pathogenic | -1 | RCV003236731; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6968337 | 8434424 | | | | - | | |
GRCh37/hg19 Xp22.31(chrX:6696168-7396902) | -1 | PUDP;STS | Pathogenic | -1 | RCV000767650; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6696168 | 7396902 | | | | - | | |
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 | 412 | STS | Pathogenic | -1 | RCV001731232; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6451799 | 8141017 | | | | - | | |
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0 | 412 | STS | Pathogenic | -1 | RCV001731231; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 6532072 | 8177514 | | | -1 | - | | |
NM_001320752.2(STS):c.241C>T (p.Arg81Trp) | 412 | STS | Uncertain significance | 1259321805 | RCV002243547; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7175386 | 7175386 | | | 7175386 | - | | |
NM_001320752.2(STS):c.259+8_259+10del | 412 | STS | Benign/Likely benign | 773065157 | RCV000514506|RCV002496985; | N | MedGen:CN517202|MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7175409 | 7175411 | | | X:g.7175409_7175411del | ClinGen:CA10341934 | CN517202 not provided; | |
NM_001320752.2(STS):c.272G>A (p.Trp91Ter) | 412 | STS | Pathogenic | 1463414987 | RCV000853199; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7175519 | 7175519 | | | X:g.7175519G>A | - | | |
NM_001320752.2(STS):c.383-16C>T | 412 | STS | Benign/Likely benign | 56055086 | RCV002218624|RCV002498241; | N | MedGen:C3661900|MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7177374 | 7177374 | | | 7177374 | - | | |
NM_001320752.2(STS):c.437del (p.Pro146fs) | 412 | STS | Likely pathogenic | 2147089236 | RCV001783828; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7177442 | 7177442 | | | 7177441 | - | | |
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) | 412 | STS | Pathogenic | 137853167 | RCV000011300|RCV001093287; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461|MedGen:C3661900 | X | 7223150 | 7223150 | | | X:g.7223150C>T | OMIM:300747.0003,ClinGen:CA121122,UniProtKB:P08842#VAR_007240 | C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency; | |
NM_001320752.2(STS):c.1082-18T>C | 412 | STS | Uncertain significance | 1927373599 | RCV001197123; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7243362 | 7243362 | | | X:g.7243362T>C | - | | |
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) | 412 | STS | Pathogenic | 137853165 | RCV000011298; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7243397 | 7243397 | | | X:g.7243397T>A | ClinGen:CA121120,UniProtKB:P08842#VAR_007241,OMIM:300747.0001 | C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency; | |
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) | 412 | STS | Pathogenic | 137853168 | RCV000011301; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7243398 | 7243398 | | | X:g.7243398G>C | ClinGen:CA121123,UniProtKB:P08842#VAR_014020,OMIM:300747.0004 | C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency; | |
NM_001320752.2(STS):c.1108G>T (p.Gly370Cys) | 412 | STS | Likely pathogenic | -1 | RCV002466828; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7243406 | 7243406 | | | NC_000023.10:g.7243406G>T | - | | |
NM_001320752.2(STS):c.1111A>G (p.Ile371Val) | 412 | STS | Uncertain significance | 748174656 | RCV000791007; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7243409 | 7243409 | | | X:g.7243409A>G | - | | |
NM_001320752.2(STS):c.1241+1G>T | 412 | STS | Pathogenic | 1601748137 | RCV000011303; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7243540 | 7243540 | | | X:g.7243540G>T | OMIM:300747.0006 | C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency; | |
NM_001320752.2(STS):c.1316A>G (p.His439Arg) | 412 | STS | Pathogenic | 137853169 | RCV000011302; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7252101 | 7252101 | | | X:g.7252101A>G | ClinGen:CA121124,UniProtKB:P08842#VAR_014022,OMIM:300747.0005 | C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency; | |
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) | 412 | STS | Pathogenic | 137853166 | RCV000011299; | N | MONDO:MONDO:0010622,MedGen:C0079588,OMIM:308100, Orphanet:461 | X | 7252107 | 7252107 | | | X:g.7252107G>A | ClinGen:CA121121,UniProtKB:P08842#VAR_007242,OMIM:300747.0002 | C0079588 308100 X-linked ichthyosis with steryl-sulfatase deficiency; | |