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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2207692	NM_001277.3(CHKA):c.1153G>A (p.Ala385Thr)	CHKA (A395T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260850	NM_001277.3(CHKA):c.976C>A (p.Leu326Met)	CHKA (L204M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267034	NM_001277.3(CHKA):c.862A>T (p.Asn288Tyr)	CHKA (N288Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330379	NM_001277.3(CHKA):c.842A>G (p.Asn281Ser)	CHKA (N141S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395692	NM_001277.3(CHKA):c.813T>G (p.Ile271Met)	CHKA (I253M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549888	NM_001277.3(CHKA):c.720G>C (p.Met240Ile)	CHKA (M118I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311147	NM_001277.3(CHKA):c.643G>A (p.Asp215Asn)	CHKA (D225N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334585	NM_001277.3(CHKA):c.562G>A (p.Ala188Thr)	CHKA (A48T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620960	NM_001277.3(CHKA):c.548T>C (p.Met183Thr)	CHKA (M165T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342336	NM_001277.3(CHKA):c.253C>T (p.Pro85Ser)	CHKA (P85S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2544838	NM_001277.3(CHKA):c.224C>T (p.Pro75Leu)	CHKA (P75L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343657	NM_001277.3(CHKA):c.214C>T (p.Pro72Ser)	CHKA (P72S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144373	NM_001277.3(CHKA):c.213G>C (p.Gln71His)	CHKA (Q71H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283195	NM_001277.3(CHKA):c.190C>T (p.Pro64Ser)	CHKA (P64S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285539	NM_001277.3(CHKA):c.176C>T (p.Pro59Leu)	CHKA (P59L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304995	NM_001277.3(CHKA):c.172C>T (p.Pro58Ser)	CHKA (P58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388288	NM_001277.3(CHKA):c.164T>G (p.Leu55Arg)	CHKA (L55R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615846	NM_001277.3(CHKA):c.148G>T (p.Gly50Cys)	CHKA (G50C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144371	NM_001277.3(CHKA):c.101G>A (p.Gly34Glu)	CHKA (G34E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance