Related gene-specific medical variations for Gene (Select 412) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149771	NM_012080.5(PUDP):c.22G>T (p.Val8Phe)	LOC130067915, PUDP +1 more (V8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2340316	NM_012080.5(PUDP):c.43A>G (p.Met15Val)	LOC130067915, PUDP +1 more (M15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1677277	NM_000351.4:g.(?_6551155)_(8032120_?)del	STS	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
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 980843	GRCh37/hg19 Xp22.31(chrX:7168745-7754214)x3	STS	Copy number gain	not provided	GUncertain significance
Select item 980841	GRCh37/hg19 Xp22.31(chrX:7266135-7391892)x3	STS	Copy number gain	not provided	GUncertain significance
Select item 980840	GRCh37/hg19 Xp22.31(chrX:7266135-7366211)x3	STS	Copy number gain	not provided	GUncertain significance
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 816294	GRCh37/hg19 Xp22.31(chrX:7252959-7391892)x2	STS	Copy number gain	not provided	GUncertain significance
Select item 564770	GRCh37/hg19 Xp22.31(chrX:7143912-7185127)x0	STS	Copy number loss	not provided	GPathogenic
Select item 443470	GRCh37/hg19 Xp22.31(chrX:7252959-7394015)x2	STS	Copy number gain	See cases	GUncertain significance
Select item 394622	GRCh37/hg19 Xp22.31(chrX:7269569-7706446)x2	STS	Copy number gain	See cases	GBenign
Select item 394132	GRCh37/hg19 Xp22.31(chrX:7218800-7391581)x3	STS	Copy number gain	See cases	GBenign
Select item 253737	GRCh37/hg19 Xp22.31(chrX:7153846-7469635)x2	STS	Copy number gain	See cases	GUncertain significance