Related gene-specific medical variations for Gene (Select 50814) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062516	GRCh37/hg19 Xq28(chrX:152024734-152038934)	NSDHL	Copy number gain	not specified	GUncertain significance
Select item 2687770	NM_015922.3(NSDHL):c.1010A>G (p.Tyr337Cys)	NSDHL (Y337C)	Single nucleotide variant (missense variant)	CK syndrome	GUncertain significance
Select item 2577480	NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)	NSDHL (G152D)	Single nucleotide variant (missense variant)	CK syndrome	Gnot provided
Select item 2441794	NM_015922.3(NSDHL):c.387del (p.Ile129fs)	NSDHL (I129fs)	Deletion (frameshift variant)	Child syndrome +1 more	GLikely pathogenic
Select item 2434445	NM_015922.3(NSDHL):c.895G>A (p.Val299Met)	NSDHL (V299M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434444	NM_015922.3(NSDHL):c.1049A>G (p.Gln350Arg)	NSDHL (Q350R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 592077	NM_015922.3(NSDHL):c.901T>C (p.Tyr301His)	NSDHL (Y301H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 153211	GRCh38/hg38 Xq28(chrX:152856507-152873129)x3	NSDHL	Copy number gain	See cases	GUncertain significance

ClinVar