"Ambry Genetics"[submitter] AND "TAFA3"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173603	NM_182759.3(TAFA3):c.16G>A (p.Glu6Lys)	TAFA3 (E6K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173609	NM_182759.3(TAFA3):c.37G>A (p.Gly13Ser)	TAFA3 (G13S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173618	NM_182759.3(TAFA3):c.53T>G (p.Leu18Arg)	TAFA3 (L18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173619	NM_182759.3(TAFA3):c.62C>A (p.Ala21Asp)	TAFA3 (A21D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173601	NM_182759.3(TAFA3):c.103C>T (p.Pro35Ser)	TAFA3 (P35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173602	NM_182759.3(TAFA3):c.124C>A (p.Gln42Lys)	TAFA3 (Q42K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173604	NM_182759.3(TAFA3):c.209C>T (p.Ser70Phe)	TAFA3 (S70F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173605	NM_182759.3(TAFA3):c.259G>A (p.Val87Met)	TAFA3 (V87M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173606	NM_182759.3(TAFA3):c.266-41G>C	TAFA3 (R98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173607	NM_182759.3(TAFA3):c.273C>T (p.Ile91=)	TAFA3 (S114L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3173610	NM_182759.3(TAFA3):c.317G>A (p.Gly106Glu)	TAFA3 (G129R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173611	NM_182759.3(TAFA3):c.320A>C (p.Glu107Ala)	TAFA3 (E107A)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3173612	NM_182759.3(TAFA3):c.338C>T (p.Pro113Leu)	TAFA3 (P113L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173613	NM_182759.3(TAFA3):c.341A>G (p.Asp114Gly)	TAFA3 (D114G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173614	NM_182759.3(TAFA3):c.347C>T (p.Ser116Leu)	TAFA3 (S116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173615	NM_182759.3(TAFA3):c.365G>A (p.Ser122Asn)	TAFA3 (S122N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568699	NM_182759.3(TAFA3):c.398G>A (p.Arg133Gln)	TAFA3 (D156N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173616	NM_182759.3(TAFA3):c.*14C>T	TAFA3 (R162W)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2622327	NM_182759.3(TAFA3):c.*21G>A	TAFA3 (G164E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance