"GeneDx"[submitter] AND "STN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 1466959	NM_024928.5(STN1):c.883A>G (p.Arg295Gly)	STN1 (R295G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348692	NM_024928.5(STN1):c.824A>G (p.Gln275Arg)	STN1 (Q275R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1139969	NM_024928.5(STN1):c.809C>T (p.Ala270Val)	STN1 (A270V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1169388	NM_024928.5(STN1):c.451A>G (p.Thr151Ala)	STN1 (T151A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1522701	NM_024928.5(STN1):c.127G>T (p.Val43Leu)	STN1 (V43L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 3359900	NM_024928.5(STN1):c.559C>G (p.Leu187Val)	STN1 (L187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar