ClinVar for MedGen (Select 86937) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363162	Single allele	LOC106029240, LOC113875037 +26 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 3256558	NM_001320752.2(STS):c.382G>A (p.Gly128Arg)	STS (G128R +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GLikely pathogenic
Select item 3067945	NM_001320752.2(STS):c.806G>A (p.Arg269Gln)	STS (R269Q +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GUncertain significance
Select item 3024126	GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0	LOC130067916, LOC130067917 +17 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2579751	Single allele	LOC113875037, LOC130067909 +12 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2506547	GRCh37/hg19 Xp22.31(chrX:6968337-8434424)	PNPLA4, PUDP +4 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1803158	NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)	STS (G370C +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GLikely pathogenic
Select item 1703531	GRCh37/hg19 Xp22.31(chrX:6954111-8058641)	PNPLA4, PUDP +2 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1683504	NM_001320752.2(STS):c.241C>T (p.Arg81Trp)	STS (R81W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1677277	NM_000351.4:g.(?_6551155)_(8032120_?)del	STS	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1568807	NM_001320752.2(STS):c.383-16C>T	STS	Single nucleotide variant (intron variant)	X-linked ichthyosis with steryl-sulfatase deficiency +1 more	GBenign/Likely benign
Select item 1339830	GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1	PNPLA4, PUDP +3 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	Gnot provided
Select item 1325152	NM_001320752.2(STS):c.437del (p.Pro146fs)	STS (P146fs +1 more)	Deletion (frameshift variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GLikely pathogenic
Select item 1300213	GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0	PNPLA4, PUDP +4 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1300212	GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0	PNPLA4, PUDP +3 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 931008	NM_001320752.2(STS):c.1082-18T>C	STS	Single nucleotide variant (intron variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GUncertain significance
Select item 638373	NM_001320752.2(STS):c.1111A>G (p.Ile371Val)	STS (I371V +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GUncertain significance
Select item 625856	NM_001320752.2(STS):c.272G>A (p.Trp91Ter)	STS (W91* +1 more)	Single nucleotide variant (nonsense)	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 625683	GRCh37/hg19 Xp22.31(chrX:6497085-7910475)	PNPLA4, PUDP +2 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 625682	GRCh37/hg19 Xp22.31(chrX:6497085-8135053)	PNPLA4, PUDP +2 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 625642	GRCh37/hg19 Xp22.31(chrX:6696168-7396902)	PUDP, STS	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 445931	NM_001320752.2(STS):c.259+8_259+10del	STS	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 188050	NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del	LOC130067918, MIR4767 +16 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 188049	NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del	LOC130067909, LOC130067910 +17 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 188048	NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del	LOC126863197, LOC126863198 +26 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 188047	NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del	LOC130067912, LOC130067913 +28 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 10557	NM_001320752.2(STS):c.1241+1G>T	STS	Single nucleotide variant (splice donor variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 10556	NM_001320752.2(STS):c.1316A>G (p.His439Arg)	STS (H451R +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 10555	NM_001320752.2(STS):c.1100G>C (p.Trp367Ser)	STS (W379S +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 10554	NM_001320752.2(STS):c.1007C>T (p.Ser336Leu)	STS (S336L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10553	NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr)	STS (C453Y +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 10552	NM_001320752.2(STS):c.1099T>A (p.Trp367Arg)	STS (W367R +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic

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Items: 32