ClinVar for MedGen (Select 86937) - ClinVar

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Items: 27

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25065471.	GRCh37/hg19 Xp22.31(chrX:6968337-8434424) GRCh37: ChrX:6968337-8434424	PNPLA4, PUDP, STS, VCX, VCX2, VCX3B		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 18031582.	NM_001320752.2(STS):c.1108G>T (p.Gly370Cys) GRCh37: ChrX:7243406 GRCh38: ChrX:7325365	STS	G370C, G382C	X-linked ichthyosis with steryl-sulfatase deficiency	Likely pathogenic (Jul 26, 2021)	criteria provided, single submitter
Select item 17035313.	GRCh37/hg19 Xp22.31(chrX:6954111-8058641) GRCh37: ChrX:6954111-8058641	PNPLA4, PUDP, STS, VCX		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic	no assertion criteria provided
Select item 16835044.	NM_001320752.2(STS):c.241C>T (p.Arg81Trp) GRCh37: ChrX:7175386 GRCh38: ChrX:7257345	STS	R81W, R93W	X-linked ichthyosis with steryl-sulfatase deficiency	Uncertain significance (Feb 25, 2021)	criteria provided, single submitter
Select item 16772775.	NM_000351.4:g.(?_6551155)_(8032120_?)del	STS		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Dec 9, 2021)	no assertion criteria provided
Select item 15688076.	NM_001320752.2(STS):c.383-16C>T GRCh37: ChrX:7177374 GRCh38: ChrX:7259333	STS		not provided, X-linked ichthyosis with steryl-sulfatase deficiency	Benign/Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13398307.	GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1 GRCh37: ChrX:6455149-8143242	PNPLA4, PUDP, STS, VCX, VCX2		X-linked ichthyosis with steryl-sulfatase deficiency	not provided	no assertion provided
Select item 13251528.	NM_001320752.2(STS):c.437del (p.Pro146fs) GRCh37: ChrX:7177442 GRCh38: ChrX:7259401	STS	P146fs, P158fs	X-linked ichthyosis with steryl-sulfatase deficiency	Likely pathogenic (Apr 20, 2021)	criteria provided, single submitter
Select item 13002139.	GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 GRCh37: ChrX:6451799-8141017	PNPLA4, PUDP, STS, VCX, VCX2, VCX3A		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 130021210.	GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0 GRCh37: ChrX:6532072-8177514	PNPLA4, PUDP, STS, VCX, VCX2		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 93100811.	NM_001320752.2(STS):c.1082-18T>C GRCh37: ChrX:7243362 GRCh38: ChrX:7325321	STS		X-linked ichthyosis with steryl-sulfatase deficiency	Uncertain significance (Dec 13, 2018)	criteria provided, single submitter
Select item 63837312.	NM_001320752.2(STS):c.1111A>G (p.Ile371Val) GRCh37: ChrX:7243409 GRCh38: ChrX:7325368	STS	I371V, I383V	X-linked ichthyosis with steryl-sulfatase deficiency	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 62585613.	NM_001320752.2(STS):c.272G>A (p.Trp91Ter) GRCh37: ChrX:7175519 GRCh38: ChrX:7257478	STS	W91, W103	X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Apr 30, 2019)	criteria provided, single submitter
Select item 62568314.	GRCh37/hg19 Xp22.31(chrX:6497085-7910475) GRCh37: ChrX:6497085-7910475	PNPLA4, PUDP, STS, VCX		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62568215.	GRCh37/hg19 Xp22.31(chrX:6497085-8135053) GRCh37: ChrX:6497085-8135053	PNPLA4, PUDP, STS, VCX		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62564216.	GRCh37/hg19 Xp22.31(chrX:6696168-7396902) GRCh37: ChrX:6696168-7396902	PUDP, STS		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 44593117.	NM_001320752.2(STS):c.259+8_259+10del GRCh37: ChrX:7175409-7175411 GRCh38: ChrX:7257368-7257370	STS		not provided, X-linked ichthyosis with steryl-sulfatase deficiency	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18805018.	NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del GRCh38: ChrX:6500268-7762747	LOC106029240, LOC113875037, LOC126863197, MIR4767, PUDP, STS, VCX3A		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Jan 16, 2015)	no assertion criteria provided
Select item 18804919.	NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del GRCh38: ChrX:6674278-7922037	VCX, LOC113875037, LOC126863197, LOC126863198, MIR4767, PNPLA4, PUDP, STS		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Jan 16, 2015)	no assertion criteria provided
Select item 18804820.	NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del GRCh38: ChrX:6560264-8193324	MIR4767, LOC106029241, LOC113875037, LOC121627957, LOC125446266, LOC126863197, LOC126863198, MIR651, PNPLA4, PUDP, STS, VCX, VCX2		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Jan 16, 2015)	no assertion criteria provided
Select item 18804721.	NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del GRCh38: ChrX:6499768-8193324	LOC121627957, LOC125446266, LOC106029240, LOC106029241, LOC113875037, LOC126863197, LOC126863198, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX2, VCX3A		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Jan 16, 2015)	no assertion criteria provided
Select item 1055722.	NM_001320752.2(STS):c.1241+1G>T GRCh37: ChrX:7243540 GRCh38: ChrX:7325499	STS		X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Aug 15, 1997)	no assertion criteria provided
Select item 1055623.	NM_001320752.2(STS):c.1316A>G (p.His439Arg) GRCh37: ChrX:7252101 GRCh38: ChrX:7334060	STS	H451R, H439R	X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Aug 15, 1997)	no assertion criteria provided
Select item 1055524.	NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) GRCh37: ChrX:7243398 GRCh38: ChrX:7325357	STS	W379S, W367S	X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Aug 15, 1997)	no assertion criteria provided
Select item 1055425.	NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) GRCh37: ChrX:7223150 GRCh38: ChrX:7305109	STS	S336L, S348L	not provided	Pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1055326.	NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) GRCh37: ChrX:7252107 GRCh38: ChrX:7334066	STS	C453Y, C441Y	X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Aug 15, 1997)	no assertion criteria provided
Select item 1055227.	NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) GRCh37: ChrX:7243397 GRCh38: ChrX:7325356	STS	W367R, W379R	X-linked ichthyosis with steryl-sulfatase deficiency	Pathogenic (Aug 15, 1997)	no assertion criteria provided

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Items: 27