"Ambry Genetics"[submitter] AND "ANKRD44"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2470758	NM_001195144.2(ANKRD44):c.2962G>A (p.Ala988Thr)	ANKRD44 (A988T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210915	NM_001195144.2(ANKRD44):c.2931G>T (p.Arg977Ser)	ANKRD44 (R977S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126729	NM_001195144.2(ANKRD44):c.2929A>G (p.Arg977Gly)	ANKRD44 (R977G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126726	NM_001195144.2(ANKRD44):c.2875G>A (p.Glu959Lys)	ANKRD44 (E977K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126722	NM_001195144.2(ANKRD44):c.2869G>T (p.Val957Leu)	ANKRD44 (V957L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238685	NM_001195144.2(ANKRD44):c.2854A>G (p.Asn952Asp)	ANKRD44 (N952D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126717	NM_001195144.2(ANKRD44):c.2852G>A (p.Arg951His)	ANKRD44 (R969H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361665	NM_001195144.2(ANKRD44):c.2849C>T (p.Ala950Val)	ANKRD44 (A950V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624311	NM_001195144.2(ANKRD44):c.2734T>G (p.Leu912Val)	ANKRD44 (L887V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265548	NM_001195144.2(ANKRD44):c.2705A>C (p.Lys902Thr)	ANKRD44 (K877T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570202	NM_001195144.2(ANKRD44):c.2678A>G (p.Asn893Ser)	ANKRD44 (N868S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297643	NM_001195144.2(ANKRD44):c.2584A>C (p.Ser862Arg)	ANKRD44 (S862R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336035	NM_001195144.2(ANKRD44):c.2524C>T (p.Pro842Ser)	ANKRD44 (P860S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515996	NM_001195144.2(ANKRD44):c.2494G>A (p.Val832Ile)	ANKRD44 (V807I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367469	NM_001195144.2(ANKRD44):c.2467C>G (p.Leu823Val)	ANKRD44 (L798V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311181	NM_001195144.2(ANKRD44):c.2321C>T (p.Thr774Met)	ANKRD44 (T792M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457174	NM_001195144.2(ANKRD44):c.2213C>T (p.Thr738Met)	ANKRD44 (T738M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311965	NM_001195144.2(ANKRD44):c.2135T>C (p.Met712Thr)	ANKRD44 (M687T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204982	NM_001195144.2(ANKRD44):c.2053G>A (p.Ala685Thr)	ANKRD44 (A660T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126681	NM_001195144.2(ANKRD44):c.2047A>G (p.Ile683Val)	ANKRD44 (I658V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322889	NM_001195144.2(ANKRD44):c.2038T>C (p.Tyr680His)	ANKRD44 (Y698H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322614	NM_001195144.2(ANKRD44):c.1987G>C (p.Val663Leu)	ANKRD44 (V681L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126665	NM_001195144.2(ANKRD44):c.1979C>T (p.Pro660Leu)	ANKRD44 (P635L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307797	NM_001195144.2(ANKRD44):c.1931A>G (p.Asn644Ser)	ANKRD44 (N662S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312957	NM_001195144.2(ANKRD44):c.1723G>T (p.Ala575Ser)	ANKRD44 (A550S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477263	NM_001195144.2(ANKRD44):c.1720G>T (p.Ala574Ser)	ANKRD44 (A549S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526806	NM_001195144.2(ANKRD44):c.1621G>C (p.Ala541Pro)	ANKRD44 (A516P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380628	NM_001195144.2(ANKRD44):c.1583G>A (p.Arg528Gln)	ANKRD44 (R503Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126647	NM_001195144.2(ANKRD44):c.1582C>T (p.Arg528Trp)	ANKRD44 (R528W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610237	NM_001195144.2(ANKRD44):c.1535C>T (p.Thr512Ile)	ANKRD44 (T487I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328742	NM_001195144.2(ANKRD44):c.1489T>C (p.Ser497Pro)	ANKRD44 (S472P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204282	NM_001195144.2(ANKRD44):c.1463C>T (p.Thr488Ile)	ANKRD44 (T463I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341974	NM_001195144.2(ANKRD44):c.1445A>G (p.Asp482Gly)	ANKRD44 (D457G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387420	NM_001195144.2(ANKRD44):c.1414C>T (p.Arg472Cys)	ANKRD44 (R490C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264290	NM_001195144.2(ANKRD44):c.1390G>A (p.Val464Ile)	ANKRD44 (V482I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290137	NM_001195144.2(ANKRD44):c.1384G>T (p.Ala462Ser)	ANKRD44 (A480S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297651	NM_001195144.2(ANKRD44):c.1360A>G (p.Ile454Val)	ANKRD44 (I454V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617538	NM_001195144.2(ANKRD44):c.1308G>C (p.Lys436Asn)	ANKRD44 (K411N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288258	NM_001195144.2(ANKRD44):c.1261A>G (p.Ile421Val)	ANKRD44 (I396V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297671	NM_001195144.2(ANKRD44):c.1115G>A (p.Ser372Asn)	ANKRD44 (S372N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510344	NM_001195144.2(ANKRD44):c.870A>T (p.Glu290Asp)	ANKRD44 (E290D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356257	NM_001195144.2(ANKRD44):c.784G>A (p.Gly262Ser)	ANKRD44 (G262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400078	NM_001195144.2(ANKRD44):c.737C>T (p.Ala246Val)	ANKRD44 (A246V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550781	NM_001195144.2(ANKRD44):c.608A>G (p.Asp203Gly)	ANKRD44 (D203G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126751	NM_001195144.2(ANKRD44):c.599C>T (p.Thr200Ile)	ANKRD44 (T200I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331315	NM_001195144.2(ANKRD44):c.560A>T (p.Asp187Val)	ANKRD44 (D187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593163	NM_001195144.2(ANKRD44):c.548T>C (p.Met183Thr)	ANKRD44 (M183T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319968	NM_001195144.2(ANKRD44):c.521G>A (p.Arg174Gln)	ANKRD44 (R174Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297658	NM_001195144.2(ANKRD44):c.490G>A (p.Ala164Thr)	ANKRD44 (A164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310945	NM_001195144.2(ANKRD44):c.435C>A (p.His145Gln)	ANKRD44 (H145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297668	NM_001195144.2(ANKRD44):c.321G>T (p.Trp107Cys)	ANKRD44 (W107C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289893	NM_001195144.2(ANKRD44):c.247G>T (p.Ala83Ser)	ANKRD44 (A83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613514	NM_001195144.2(ANKRD44):c.233T>C (p.Leu78Pro)	ANKRD44 (L78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252775	NM_001195144.2(ANKRD44):c.200T>C (p.Val67Ala)	ANKRD44 (V67A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273395	NM_001195144.2(ANKRD44):c.10C>T (p.Leu4Phe)	ANKRD44, LOC129935352 (L4F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126756	NM_001195144.2(ANKRD44):c.5C>G (p.Ala2Gly)	ANKRD44, LOC129935352 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 56