Related gene-specific medical variations for Gene (Select 3340) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064174	NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)	NDST1 (R329C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2689547	NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)	NDST1 (A758T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2689546	NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)	NDST1 (R688Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 978181	NM_001543.5(NDST1):c.176C>G (p.Pro59Arg)	NDST1 (P59R)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 975761	NM_001543.5(NDST1):c.1438-7T>G	NDST1	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 975759	NM_001543.5(NDST1):c.40G>A (p.Val14Met)	NDST1 (V14M)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign

ClinVar