ClinVar for Gene (Select 90) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4566432	NM_001111067.4(ACVR1):c.527G>C (p.Gly176Ala)	ACVR1 (G176A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4566404	NM_001111067.4(ACVR1):c.1487C>T (p.Thr496Ile)	ACVR1 (T496I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4566388	NM_001111067.4(ACVR1):c.56C>T (p.Pro19Leu)	ACVR1 (P19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4530177	NM_001111067.4(ACVR1):c.767_772del (p.Met256_Leu257del)	ACVR1	Deletion	Embryonal rhabdomyosarcoma	STier II - Potential
Select item 4504919	NM_001111067.4(ACVR1):c.-183+287C>T	ACVR1	Single nucleotide variant (intron variant)	Not Specified
Select item 4504918	NM_001111067.4(ACVR1):c.58A>G (p.Ser20Gly)	ACVR1 (S20G)	Single nucleotide variant (missense variant)	Not Specified
Select item 4504916	NM_001111067.4(ACVR1):c.67+1G>A	ACVR1	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4504915	NM_001111067.4(ACVR1):c.67+1G>T	ACVR1	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4504914	NM_001111067.4(ACVR1):c.634G>A (p.Glu212Lys)	ACVR1 (E212K)	Single nucleotide variant (missense variant)	Not Specified
Select item 4504913	NM_001111067.4(ACVR1):c.643+2T>C	ACVR1	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4504912	NM_001111067.4(ACVR1):c.1111G>A (p.Gly371Arg)	ACVR1 (G371R)	Single nucleotide variant (missense variant)	Not Specified
Select item 4280855	NM_001111067.4(ACVR1):c.1188C>T (p.Phe396=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4278067	NM_001111067.4(ACVR1):c.103T>C (p.Cys35Arg)	ACVR1 (C35R)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GUncertain significance
Select item 4223531	NM_001111067.4(ACVR1):c.874T>C (p.Tyr292His)	ACVR1 (Y292H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4223481	NM_001111067.4(ACVR1):c.1150C>T (p.Pro384Ser)	ACVR1 (P384S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4003029	NM_001111067.4(ACVR1):c.1402A>T (p.Thr468Ser)	ACVR1 (T468S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4003019	NM_001111067.4(ACVR1):c.1098T>A (p.Asn366Lys)	ACVR1 (N366K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3906191	GRCh37/hg19 2q24.1-24.2(chr2:156006517-162061520)x1	ACVR1, ACVR1C +20 more	Copy number loss	2q24 microdeletion syndrome	Gnot provided
Select item 3768379	NM_001111067.4(ACVR1):c.1393C>T (p.Pro465Ser)	ACVR1 (P465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3765589	NM_001111067.4(ACVR1):c.856del (p.His286fs)	ACVR1 (H286fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3729328	NM_001111067.4(ACVR1):c.1480A>G (p.Thr494Ala)	ACVR1 (T494A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3728498	NM_001111067.4(ACVR1):c.1120C>T (p.Pro374Ser)	ACVR1 (P374S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3728311	NM_001111067.4(ACVR1):c.1089G>C (p.Gln363His)	ACVR1 (Q363H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3727542	NM_001111067.4(ACVR1):c.157T>C (p.Cys53Arg)	ACVR1 (C53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3725584	NM_001111067.4(ACVR1):c.1460C>T (p.Thr487Ile)	ACVR1 (T487I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3724863	NM_001111067.4(ACVR1):c.463G>T (p.Glu155Ter)	ACVR1 (E155*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3721541	NM_001111067.4(ACVR1):c.1264+5G>T	ACVR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3721388	NM_001111067.4(ACVR1):c.959A>C (p.His320Pro)	ACVR1 (H320P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3711958	NM_001111067.4(ACVR1):c.1059A>C (p.Ala353=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3702251	NM_001111067.4(ACVR1):c.751T>C (p.Leu251=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3702071	NM_001111067.4(ACVR1):c.1077C>G (p.Val359=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3701174	NM_001111067.4(ACVR1):c.621G>C (p.Gln207His)	ACVR1 (Q207H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3699247	NM_001111067.4(ACVR1):c.700G>A (p.Val234Met)	ACVR1 (V234M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3697955	NM_001111067.4(ACVR1):c.711C>T (p.Phe237=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3696205	NM_001111067.4(ACVR1):c.51C>T (p.Pro17=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3696093	NM_001111067.4(ACVR1):c.395T>C (p.Val132Ala)	ACVR1 (V132A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3692570	NM_001111067.4(ACVR1):c.1138C>T (p.Arg380Cys)	ACVR1 (R380C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3692536	NM_001111067.4(ACVR1):c.1289C>T (p.Pro430Leu)	ACVR1 (P430L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3692529	NM_001111067.4(ACVR1):c.1123C>T (p.Arg375Cys)	ACVR1 (R375C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3692312	NM_001111067.4(ACVR1):c.66A>G (p.Glu22=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3692047	NM_001111067.4(ACVR1):c.68-12T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3691819	NM_001111067.4(ACVR1):c.643+14T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3689282	NM_001111067.4(ACVR1):c.464A>G (p.Glu155Gly)	ACVR1 (E155G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3687747	NM_001111067.4(ACVR1):c.1206C>A (p.Val402=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3687152	NM_001111067.4(ACVR1):c.931T>A (p.Ser311Thr)	ACVR1 (S311T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3685207	NM_001111067.4(ACVR1):c.677G>A (p.Ser226Asn)	ACVR1 (S226N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3684595	NM_001111067.4(ACVR1):c.1189G>A (p.Asp397Asn)	ACVR1 (D397N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3683386	NM_001111067.4(ACVR1):c.717C>G (p.Ser239=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3680245	NM_001111067.4(ACVR1):c.1194T>C (p.Ser398=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3679255	NM_001111067.4(ACVR1):c.656A>T (p.Tyr219Phe)	ACVR1 (Y219F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3677806	NM_001111067.4(ACVR1):c.1469G>A (p.Arg490His)	ACVR1 (R490H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3676094	NM_001111067.4(ACVR1):c.862A>C (p.Met288Leu)	ACVR1 (M288L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3675658	NM_001111067.4(ACVR1):c.1509C>A (p.Asp503Glu)	ACVR1 (D503E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3674019	NM_001111067.4(ACVR1):c.938C>G (p.Ala313Gly)	ACVR1 (A313G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3671534	NM_001111067.4(ACVR1):c.1053C>T (p.Cys351=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3665970	NM_001111067.4(ACVR1):c.560C>T (p.Ser187Leu)	ACVR1 (S187L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3659933	NM_001111067.4(ACVR1):c.331+13T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3656988	NM_001111067.4(ACVR1):c.1066+18T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3652537	NM_001111067.4(ACVR1):c.182A>G (p.Asp61Gly)	ACVR1 (D61G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3652290	NM_001111067.4(ACVR1):c.50C>G (p.Pro17Arg)	ACVR1 (P17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3652271	NM_001111067.4(ACVR1):c.429_430delinsTT (p.Val144Phe)	ACVR1 (V144F)	Indel (missense variant)	not provided	GUncertain significance
Select item 3650795	NM_001111067.4(ACVR1):c.780A>G (p.Glu260=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3643800	NM_001111067.4(ACVR1):c.65A>T (p.Glu22Val)	ACVR1 (E22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3640961	NM_001111067.4(ACVR1):c.391G>C (p.Val131Leu)	ACVR1 (V131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3637517	NM_001111067.4(ACVR1):c.1218C>T (p.Ala406=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3624408	NM_001111067.4(ACVR1):c.1216G>A (p.Ala406Thr)	ACVR1 (A406T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3623494	NM_001111067.4(ACVR1):c.893C>G (p.Thr298Ser)	ACVR1 (T298S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3623381	NM_001111067.4(ACVR1):c.644-18A>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3620564	NM_001111067.4(ACVR1):c.896C>G (p.Thr299Ser)	ACVR1 (T299S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3620060	NM_001111067.4(ACVR1):c.364T>C (p.Leu122=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3618492	NM_001111067.4(ACVR1):c.332-15T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3616212	NM_001111067.4(ACVR1):c.471C>T (p.Leu157=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3615982	NM_001111067.4(ACVR1):c.1436A>G (p.Tyr479Cys)	ACVR1 (Y479C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3614959	NM_001111067.4(ACVR1):c.1298A>G (p.Asp433Gly)	ACVR1 (D433G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3611172	NM_001111067.4(ACVR1):c.791-12del	ACVR1	Deletion (intron variant)	not provided	GLikely benign
Select item 3609118	NM_001111067.4(ACVR1):c.1468C>T (p.Arg490Cys)	ACVR1 (R490C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3608207	NM_001111067.4(ACVR1):c.68-8C>T	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3604651	NM_001111067.4(ACVR1):c.1067-8C>T	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3603943	NM_001111067.4(ACVR1):c.544-18C>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3485379	NM_001111067.4(ACVR1):c.318G>C (p.Gln106His)	ACVR1 (Q106H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3485360	NM_001111067.4(ACVR1):c.36C>G (p.Ile12Met)	ACVR1 (I12M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3391990	GRCh37/hg19 2q23.3-24.2(chr2:152709810-160343075)x3	ACVR1, ACVR1C +20 more	Copy number gain	not provided	GUncertain significance
Select item 3345745	NM_001111067.4(ACVR1):c.658G>T (p.Gly220Cys)	ACVR1 (G220C)	Single nucleotide variant (missense variant)	ACVR1-related disorder	GUncertain significance
Select item 3264933	NM_001111067.4(ACVR1):c.1331T>G (p.Met444Arg)	ACVR1 (M444R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264915	NM_001111067.4(ACVR1):c.416C>T (p.Ala139Val)	ACVR1 (A139V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264904	NM_001111067.4(ACVR1):c.689A>G (p.Glu230Gly)	ACVR1 (E230G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142973	NM_001111067.4(ACVR1):c.25C>T (p.Pro9Ser)	ACVR1 (P9S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3142963	NM_001111067.4(ACVR1):c.1250G>A (p.Arg417Gln)	ACVR1 (R417Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 3061425	NM_001111067.4(ACVR1):c.106G>C (p.Val36Leu)	ACVR1 (V36L)	Single nucleotide variant (missense variant)	ACVR1-related disorder	GUncertain significance
Select item 3049883	NM_001111067.4(ACVR1):c.1067-4dup	ACVR1	Duplication (intron variant)	ACVR1-related disorder	GLikely benign
Select item 3043296	NM_001111067.4(ACVR1):c.1140C>T (p.Arg380=)	ACVR1	Single nucleotide variant (synonymous variant)	ACVR1-related disorder	GLikely benign
Select item 3022337	NM_001111067.4(ACVR1):c.455G>A (p.Arg152His)	ACVR1 (R152H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021814	NM_001111067.4(ACVR1):c.274G>A (p.Glu92Lys)	ACVR1 (E92K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021718	NM_001111067.4(ACVR1):c.34A>G (p.Ile12Val)	ACVR1 (I12V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3021443	NM_001111067.4(ACVR1):c.642C>T (p.Val214=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3019117	NM_001111067.4(ACVR1):c.100_101del (p.Met34fs)	ACVR1 (M34fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3016343	NM_001111067.4(ACVR1):c.756C>T (p.Tyr252=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014545	NM_001111067.4(ACVR1):c.139C>G (p.His47Asp)	ACVR1 (H47D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011906	NM_001111067.4(ACVR1):c.819A>G (p.Arg273=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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