STOM[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2222445	NM_004099.6(STOM):c.833G>A (p.Gly278Glu)	STOM (G113E +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 2683061	NM_004099.6(STOM):c.796A>G (p.Thr266Ala)	STOM (T101A +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2229195	NM_004099.6(STOM):c.754T>A (p.Tyr252Asn)	STOM (Y87N +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2683062	NM_004099.6(STOM):c.716T>C (p.Met239Thr)	STOM (M239T +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3171473	NM_004099.6(STOM):c.515A>T (p.His172Leu)	STOM (H172L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568533	NM_004099.6(STOM):c.415G>A (p.Ala139Thr)	STOM (A139T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1163313	NM_004099.6(STOM):c.376G>A (p.Val126Ile)	STOM (V126I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3323364	NM_004099.6(STOM):c.352G>A (p.Val118Met)	STOM (V118M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299721	NM_004099.6(STOM):c.107C>T (p.Ala36Val)	STOM (A36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323635	NM_004099.6(STOM):c.68C>T (p.Pro23Leu)	STOM (P23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 815292	GRCh37/hg19 9q33.2(chr9:124107297-124159211)x1	STOM	Copy number loss	not provided	GUncertain significance