"Ambry Genetics"[submitter] AND "AK6"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2545928	NM_003187.5(TAF9):c.712A>G (p.Asn238Asp)	AK6, TAF9 (N238D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608790	NM_003187.5(TAF9):c.514G>A (p.Val172Ile)	AK6, TAF9 (V172I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324296	NM_003187.5(TAF9):c.442T>G (p.Leu148Val)	AK6, TAF9 (L148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173593	NM_003187.5(TAF9):c.427A>G (p.Ile143Val)	AK6, TAF9 (I143V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324295	NM_003187.5(TAF9):c.419C>T (p.Ala140Val)	AK6, TAF9 (A140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324297	NM_003187.5(TAF9):c.406G>A (p.Ala136Thr)	AK6, TAF9 (A136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622668	NM_003187.5(TAF9):c.343T>G (p.Leu115Val)	AK6, TAF9 (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173591	NM_003187.5(TAF9):c.215G>A (p.Arg72Gln)	AK6, TAF9 (R72Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173590	NM_003187.5(TAF9):c.191C>G (p.Ala64Gly)	AK6, TAF9 (A64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316974	NM_003187.5(TAF9):c.173C>T (p.Ser58Leu)	AK6, TAF9 (S58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance