"Ambry Genetics"[submitter] AND "LOC107303342"[gene] - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2533421	NM_014760.4(TATDN2):c.430A>G (p.Ser144Gly)	LOC107303342, TATDN2 (S144G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276861	NM_014760.4(TATDN2):c.593C>T (p.Ser198Leu)	LOC107303342, TATDN2 (S198L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281164	NM_014760.4(TATDN2):c.676A>G (p.Arg226Gly)	LOC107303342, TATDN2 (R226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536256	NM_014760.4(TATDN2):c.784A>G (p.Lys262Glu)	LOC107303342, TATDN2 (K262E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204318	NM_014760.4(TATDN2):c.1034C>G (p.Ser345Cys)	TATDN2, LOC107303342 (S345C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400068	NM_014760.4(TATDN2):c.1174C>T (p.Pro392Ser)	LOC107303342, TATDN2 (P392S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619553	NM_014760.4(TATDN2):c.1186C>T (p.Pro396Ser)	LOC107303342, TATDN2 (P396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475882	NM_014760.4(TATDN2):c.1193C>T (p.Thr398Ile)	LOC107303342, TATDN2 (T398I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367711	NM_014760.4(TATDN2):c.1255T>C (p.Tyr419His)	LOC107303342, TATDN2 (Y419H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372052	NM_014760.4(TATDN2):c.1292C>T (p.Ser431Phe)	TATDN2, LOC107303342 (S431F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412186	NM_014760.4(TATDN2):c.1309T>G (p.Ser437Ala)	TATDN2, LOC107303342 (S437A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2412187	NM_014760.4(TATDN2):c.1310C>T (p.Ser437Leu)	TATDN2, LOC107303342 (S437L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569028	NM_014760.4(TATDN2):c.1315G>A (p.Glu439Lys)	LOC107303342, TATDN2 (E439K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588052	NM_014760.4(TATDN2):c.1414C>T (p.Arg472Cys)	LOC107303342, TATDN2 (R472C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244832	NM_014760.4(TATDN2):c.1445T>C (p.Leu482Pro)	TATDN2, LOC107303342 (L482P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539613	NM_014760.4(TATDN2):c.1487T>C (p.Ile496Thr)	LOC107303342, TATDN2 (I496T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371293	NM_014760.4(TATDN2):c.1705C>T (p.Arg569Cys)	TATDN2, LOC107303342 (R569C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance