"Ambry Genetics"[submitter] AND "AMER1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2274995	NM_152424.4(AMER1):c.3215T>C (p.Leu1072Pro)	AMER1 (L1072P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1174816	NM_152424.4(AMER1):c.3092G>A (p.Gly1031Asp)	AMER1 (G1031D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2084525	NM_152424.4(AMER1):c.3056A>G (p.Gln1019Arg)	AMER1 (Q1019R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 764309	NM_152424.4(AMER1):c.2995A>G (p.Met999Val)	AMER1 (M999V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 763464	NM_152424.4(AMER1):c.2897T>C (p.Leu966Pro)	AMER1 (L966P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3115111	NM_152424.4(AMER1):c.2887C>T (p.Pro963Ser)	AMER1 (P963S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3115109	NM_152424.4(AMER1):c.2874G>T (p.Trp958Cys)	AMER1 (W958C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2516054	NM_152424.4(AMER1):c.2825G>A (p.Arg942Gln)	AMER1 (R942Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2232570	NM_152424.4(AMER1):c.2734G>A (p.Val912Ile)	AMER1 (V912I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308885	NM_152424.4(AMER1):c.2681G>A (p.Arg894His)	AMER1 (R894H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2162587	NM_152424.4(AMER1):c.2642G>T (p.Arg881Leu)	AMER1 (R881L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1577627	NM_152424.4(AMER1):c.2642G>A (p.Arg881Gln)	AMER1 (R881Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2316407	NM_152424.4(AMER1):c.2582G>T (p.Gly861Val)	AMER1 (G861V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596439	NM_152424.4(AMER1):c.2537A>G (p.Tyr846Cys)	AMER1 (Y846C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2268780	NM_152424.4(AMER1):c.2518G>A (p.Ala840Thr)	AMER1 (A840T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1917131	NM_152424.4(AMER1):c.2434G>A (p.Ala812Thr)	AMER1 (A812T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2484405	NM_152424.4(AMER1):c.2273A>T (p.Glu758Val)	AMER1 (E758V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133498	NM_152424.4(AMER1):c.2157G>A (p.Met719Ile)	AMER1 (M719I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2234766	NM_152424.4(AMER1):c.2051C>T (p.Ala684Val)	AMER1 (A684V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 759265	NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro)	AMER1 (S677P)	Single nucleotide variant (missense variant)	Osteopathia striata with cranial sclerosis +2 more	GConflicting classifications of pathogenicity
Select item 133497	NM_152424.4(AMER1):c.2015G>A (p.Gly672Glu)	AMER1 (G672E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292454	NM_152424.4(AMER1):c.1991T>C (p.Met664Thr)	AMER1 (M664T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268594	NM_152424.4(AMER1):c.1982C>T (p.Pro661Leu)	AMER1 (P661L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292480	NM_152424.4(AMER1):c.1817G>A (p.Arg606Lys)	AMER1 (R606K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524757	NM_152424.4(AMER1):c.1807G>T (p.Ala603Ser)	AMER1 (A603S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1206234	NM_152424.4(AMER1):c.1802G>A (p.Arg601Gln)	AMER1 (R601Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2615824	NM_152424.4(AMER1):c.1786A>G (p.Arg596Gly)	AMER1 (R596G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1985092	NM_152424.4(AMER1):c.1724G>A (p.Arg575Gln)	AMER1 (R575Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2971647	NM_152424.4(AMER1):c.1720C>T (p.Arg574Trp)	AMER1 (R574W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 745836	NM_152424.4(AMER1):c.1604T>A (p.Met535Lys)	AMER1 (M535K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2550081	NM_152424.4(AMER1):c.1475G>T (p.Arg492Met)	AMER1 (R492M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2078176	NM_152424.4(AMER1):c.1472G>A (p.Arg491His)	AMER1 (R491H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1550021	NM_152424.4(AMER1):c.1343T>C (p.Leu448Pro)	AMER1 (L448P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3115069	NM_152424.4(AMER1):c.1318G>A (p.Asp440Asn)	AMER1 (D440N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115066	NM_152424.4(AMER1):c.1259A>G (p.Asn420Ser)	AMER1 (N420S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 10708	NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)	AMER1 (R358*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2492283	NM_152424.4(AMER1):c.890A>G (p.Glu297Gly)	AMER1 (E297G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1903538	NM_152424.4(AMER1):c.840C>A (p.Ser280Arg)	AMER1 (S280R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 133491	NM_152424.4(AMER1):c.835A>G (p.Ser279Gly)	AMER1 (S279G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292463	NM_152424.4(AMER1):c.760G>T (p.Ala254Ser)	AMER1 (A254S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2166956	NM_152424.4(AMER1):c.745G>A (p.Ala249Thr)	AMER1 (A249T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 792933	NM_152424.4(AMER1):c.742C>A (p.Pro248Thr)	AMER1 (P248T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2236247	NM_152424.4(AMER1):c.734C>T (p.Pro245Leu)	AMER1 (P245L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421212	NM_152424.4(AMER1):c.683A>T (p.Asn228Ile)	AMER1 (N228I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2245897	NM_152424.4(AMER1):c.503G>A (p.Gly168Asp)	AMER1 (G168D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676168	NM_152424.4(AMER1):c.116G>T (p.Gly39Val)	AMER1 (G39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2602310	NM_152424.4(AMER1):c.59C>T (p.Thr20Ile)	AMER1 (T20I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 985213	NM_152424.4(AMER1):c.28C>T (p.Gln10Ter)	AMER1 (Q10*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance

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Items: 48