"Ambry Genetics"[submitter] AND "LOC130002147"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2377341	NM_007001.3(SLC35D2):c.155A>G (p.Tyr52Cys)	LOC130002147, SLC35D2 +1 more (Y52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559199	NM_007001.3(SLC35D2):c.137A>G (p.Lys46Arg)	LOC130002147, SLC35D2 +1 more (K46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330185	NM_007001.3(SLC35D2):c.136A>G (p.Lys46Glu)	LOC130002147, SLC35D2 +1 more (K46E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164356	NM_007001.3(SLC35D2):c.134A>G (p.Asn45Ser)	LOC130002147, SLC35D2 +1 more (N45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523442	NM_007001.3(SLC35D2):c.107C>A (p.Thr36Asn)	LOC130002147, SLC35D2 +1 more (T36N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250157	NM_007001.3(SLC35D2):c.32G>A (p.Gly11Asp)	LOC130002147, SLC35D2 +1 more (G11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar