"Ambry Genetics"[submitter] AND "AK7"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2325423	NM_152327.5(AK7):c.212T>G (p.Val71Gly)	AK7 (V71G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174639	NM_152327.5(AK7):c.242C>T (p.Thr81Met)	AK7 (T81M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3103814	NM_152327.5(AK7):c.248C>G (p.Ser83Cys)	AK7 (S83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1424672	NM_152327.5(AK7):c.266G>A (p.Arg89Gln)	AK7 (R89Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2170450	NM_152327.5(AK7):c.285G>C (p.Glu95Asp)	AK7 (E95D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2480795	NM_152327.5(AK7):c.295G>C (p.Ala99Pro)	AK7 (A99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1413360	NM_152327.5(AK7):c.310G>T (p.Asp104Tyr)	AK7 (D104Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2513875	NM_152327.5(AK7):c.323G>A (p.Arg108His)	AK7 (R108H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2542757	NM_152327.5(AK7):c.447T>G (p.Phe149Leu)	AK7 (F149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103855	NM_152327.5(AK7):c.457T>C (p.Ser153Pro)	AK7 (S153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557563	NM_152327.5(AK7):c.584A>T (p.Lys195Ile)	AK7 (K195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103869	NM_152327.5(AK7):c.611C>T (p.Ala204Val)	AK7 (A204V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2419296	NM_152327.5(AK7):c.631G>A (p.Val211Ile)	AK7 (V211I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2485717	NM_152327.5(AK7):c.733G>A (p.Asp245Asn)	AK7 (D245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239584	NM_152327.5(AK7):c.793G>T (p.Val265Phe)	AK7 (V265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410120	NM_152327.5(AK7):c.796A>G (p.Ile266Val)	AK7 (I266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492585	NM_152327.5(AK7):c.929A>G (p.Tyr310Cys)	AK7 (Y310C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279977	NM_152327.5(AK7):c.950A>C (p.Gln317Pro)	AK7 (Q317P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103663	NM_152327.5(AK7):c.1008G>T (p.Glu336Asp)	AK7 (E310D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286469	NM_152327.5(AK7):c.1022G>A (p.Arg341Gln)	AK7 (R315Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080485	NM_152327.5(AK7):c.1249G>A (p.Asp417Asn)	AK7 (D391N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3009751	NM_152327.5(AK7):c.1255G>A (p.Gly419Arg)	AK7 (G393R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2252608	NM_152327.5(AK7):c.1327G>A (p.Gly443Ser)	AK7 (G417S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103687	NM_152327.5(AK7):c.1418G>A (p.Cys473Tyr)	AK7 (C473Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459554	NM_152327.5(AK7):c.1418G>T (p.Cys473Phe)	AK7 (C447F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2553133	NM_152327.5(AK7):c.1442A>G (p.Asp481Gly)	AK7 (D455G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1450623	NM_152327.5(AK7):c.1460A>G (p.Tyr487Cys)	AK7 (Y461C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2491864	NM_152327.5(AK7):c.1474G>T (p.Asp492Tyr)	AK7 (D466Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306879	NM_152327.5(AK7):c.1580C>T (p.Ser527Leu)	AK7 (S504L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1915398	NM_152327.5(AK7):c.1627G>A (p.Val543Met)	AK7 (V477M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2237098	NM_152327.5(AK7):c.1651G>A (p.Asp551Asn)	AK7 (D485N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1504819	NM_152327.5(AK7):c.1657T>A (p.Phe553Ile)	AK7 (F487I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2388122	NM_152327.5(AK7):c.1682G>C (p.Arg561Pro)	AK7 (R495P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295175	NM_152327.5(AK7):c.1702G>A (p.Glu568Lys)	AK7 (E502K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367799	NM_152327.5(AK7):c.1729C>T (p.Leu577Phe)	AK7 (L577F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364954	NM_152327.5(AK7):c.1886G>A (p.Arg629Gln)	AK7 (R563Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2908397	NM_152327.5(AK7):c.1894A>G (p.Arg632Gly)	AK7 (R606G +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3279943	NM_152327.5(AK7):c.1900G>C (p.Ala634Pro)	AK7 (A568P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279952	NM_152327.5(AK7):c.1907A>C (p.Glu636Ala)	AK7 (E613A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259089	NM_152327.5(AK7):c.1918C>T (p.Arg640Cys)	AK7 (R614C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103788	NM_152327.5(AK7):c.1919G>T (p.Arg640Leu)	AK7 (R617L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1480604	NM_152327.5(AK7):c.2024C>T (p.Ala675Val)	AK7 (A649V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 42