ACSM2A[gene] and "single gene"[properties] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140351	NM_001308172.2(ACSM2A):c.18A>C (p.Lys6Asn)	ACSM2A (K6N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263088	NM_001308172.2(ACSM2A):c.61C>T (p.Arg21Cys)	ACSM2A (R21C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 208931	NM_001308172.2(ACSM2A):c.72C>G (p.Tyr24Ter)	ACSM2A (Y24*)	Single nucleotide variant (nonsense +1 more)	Abnormality of neuronal migration	GBenign
Select item 2313149	NM_001308172.2(ACSM2A):c.101A>G (p.Gln34Arg)	ACSM2A (Q34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478851	NM_001308172.2(ACSM2A):c.110A>G (p.His37Arg)	ACSM2A (H37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389056	NM_001308172.2(ACSM2A):c.122C>A (p.Pro41Gln)	ACSM2A (P41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483907	NM_001308172.2(ACSM2A):c.155A>C (p.Asp52Ala)	ACSM2A (D52A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464462	NM_001308172.2(ACSM2A):c.169A>G (p.Met57Val)	ACSM2A (M57V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140348	NM_001308172.2(ACSM2A):c.178G>A (p.Ala60Thr)	ACSM2A (A60T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377049	NM_001308172.2(ACSM2A):c.179C>T (p.Ala60Val)	ACSM2A (A60V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3140357	NM_001308172.2(ACSM2A):c.244A>C (p.Asn82His)	ACSM2A (N82H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354355	NM_001308172.2(ACSM2A):c.251G>A (p.Arg84Lys)	ACSM2A (R5K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608640	NM_001308172.2(ACSM2A):c.256C>A (p.Leu86Met)	ACSM2A (L7M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294508	NM_001308172.2(ACSM2A):c.277G>A (p.Ala93Thr)	ACSM2A (A14T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140368	NM_001308172.2(ACSM2A):c.293C>T (p.Ser98Leu)	ACSM2A (S19L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457998	NM_001308172.2(ACSM2A):c.295G>C (p.Gly99Arg)	ACSM2A (G20R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140374	NM_001308172.2(ACSM2A):c.305G>A (p.Gly102Asp)	ACSM2A (G102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598718	NM_001308172.2(ACSM2A):c.314G>A (p.Arg105His)	ACSM2A (R105H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646283	NM_001308172.2(ACSM2A):c.360G>A (p.Trp120Ter)	ACSM2A (W120* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2615010	NM_001308172.2(ACSM2A):c.368T>A (p.Ile123Asn)	ACSM2A (I123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140382	NM_001308172.2(ACSM2A):c.379A>T (p.Ile127Phe)	ACSM2A (I48F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403377	NM_001308172.2(ACSM2A):c.418A>T (p.Met140Leu)	ACSM2A (M140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140390	NM_001308172.2(ACSM2A):c.434T>C (p.Ile145Thr)	ACSM2A (I145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140392	NM_001308172.2(ACSM2A):c.457A>G (p.Lys153Glu)	ACSM2A (K153E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606214	NM_001308172.2(ACSM2A):c.545T>C (p.Leu182Pro)	ACSM2A (L103P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140402	NM_001308172.2(ACSM2A):c.749G>A (p.Gly250Asp)	ACSM2A (G171D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140404	NM_001308172.2(ACSM2A):c.848C>G (p.Thr283Arg)	ACSM2A (T204R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613939	NM_001308172.2(ACSM2A):c.860T>C (p.Leu287Pro)	ACSM2A (L208P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140408	NM_001308172.2(ACSM2A):c.943T>A (p.Tyr315Asn)	ACSM2A (Y315N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140410	NM_001308172.2(ACSM2A):c.947G>A (p.Arg316Gln)	ACSM2A (R316Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480755	NM_001308172.2(ACSM2A):c.951G>T (p.Met317Ile)	ACSM2A (M238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287812	NM_001308172.2(ACSM2A):c.1019C>T (p.Ser340Phe)	ACSM2A (S340F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204368	NM_001308172.2(ACSM2A):c.1019C>A (p.Ser340Tyr)	ACSM2A (S340Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556841	NM_001308172.2(ACSM2A):c.1033A>G (p.Thr345Ala)	ACSM2A (T266A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263119	NM_001308172.2(ACSM2A):c.1058C>A (p.Thr353Lys)	ACSM2A (T274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263069	NM_001308172.2(ACSM2A):c.1112T>C (p.Met371Thr)	ACSM2A (M292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140297	NM_001308172.2(ACSM2A):c.1139C>T (p.Pro380Leu)	ACSM2A (P380L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462317	NM_001308172.2(ACSM2A):c.1154C>T (p.Thr385Met)	ACSM2A (T385M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263078	NM_001308172.2(ACSM2A):c.1211C>A (p.Pro404His)	ACSM2A (P325H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263109	NM_001308172.2(ACSM2A):c.1226A>C (p.Asp409Ala)	ACSM2A (D409A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263099	NM_001308172.2(ACSM2A):c.1250T>C (p.Ile417Thr)	ACSM2A (I417T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364177	NM_001308172.2(ACSM2A):c.1291G>A (p.Asp431Asn)	ACSM2A (D352N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337933	NM_001308172.2(ACSM2A):c.1331T>C (p.Leu444Pro)	ACSM2A (L365P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365823	NM_001308172.2(ACSM2A):c.1339C>T (p.Arg447Trp)	ACSM2A (R447W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459916	NM_001308172.2(ACSM2A):c.1340G>A (p.Arg447Gln)	ACSM2A (R368Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347851	NM_001308172.2(ACSM2A):c.1396A>G (p.Ile466Val)	ACSM2A (I387V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623362	NM_001308172.2(ACSM2A):c.1406G>T (p.Ser469Ile)	ACSM2A (S469I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208932	NM_001308172.2(ACSM2A):c.1414C>T (p.Arg472Trp)	ACSM2A (R472W +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 2320344	NM_001308172.2(ACSM2A):c.1427C>G (p.Ser476Trp)	ACSM2A (S397W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348206	NM_001308172.2(ACSM2A):c.1498G>A (p.Val500Ile)	ACSM2A (V500I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529367	NM_001308172.2(ACSM2A):c.1502G>A (p.Arg501Gln)	ACSM2A (R422Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247647	NM_001308172.2(ACSM2A):c.1610C>T (p.Pro537Leu)	ACSM2A (P458L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140343	NM_001308172.2(ACSM2A):c.1723C>A (p.Arg575Ser)	ACSM2A (R575S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 53