ClinVar for Gene (Select 90) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 3142963	NM_001111067.4(ACVR1):c.1250G>A (p.Arg417Gln)	ACVR1 (R417Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	GUncertain significance
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
Select item 3010298	NM_001111067.4(ACVR1):c.481G>A (p.Asp161Asn)	ACVR1 (D161N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006873	NM_001111067.4(ACVR1):c.1395G>A (p.Pro465=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3005679	NM_001111067.4(ACVR1):c.966G>A (p.Glu322=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003692	NM_001111067.4(ACVR1):c.67+4A>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3001217	NM_001111067.4(ACVR1):c.68-11C>T	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000874	NM_001111067.4(ACVR1):c.251C>A (p.Pro84Gln)	ACVR1 (P84Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997411	NM_001111067.4(ACVR1):c.431T>C (p.Val144Ala)	ACVR1 (V144A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995345	NM_001111067.4(ACVR1):c.911G>A (p.Ser304Asn)	ACVR1 (S304N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993448	NM_001111067.4(ACVR1):c.1067-16A>T	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993230	NM_001111067.4(ACVR1):c.791-15dup	ACVR1	Duplication (intron variant)	not provided	GBenign
Select item 2991877	NM_001111067.4(ACVR1):c.1360A>C (p.Arg454=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989706	NM_001111067.4(ACVR1):c.930G>A (p.Leu310=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979530	NM_001111067.4(ACVR1):c.402A>G (p.Ala134=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2977471	NM_001111067.4(ACVR1):c.1204G>T (p.Val402Phe)	ACVR1 (V402F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976546	NM_001111067.4(ACVR1):c.643+16C>T	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974846	NM_001111067.4(ACVR1):c.248C>A (p.Thr83Asn)	ACVR1 (T83N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972600	NM_001111067.4(ACVR1):c.543+20G>A	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971240	NM_001111067.4(ACVR1):c.84C>T (p.Val28=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968754	NM_001111067.4(ACVR1):c.1264+13T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967247	NM_001111067.4(ACVR1):c.644-10C>T	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964888	NM_001111067.4(ACVR1):c.771G>A (p.Leu257=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958590	NM_001111067.4(ACVR1):c.1179G>T (p.Val393=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957108	NM_001111067.4(ACVR1):c.400G>A (p.Ala134Thr)	ACVR1 (A134T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956002	NM_001111067.4(ACVR1):c.1405T>G (p.Ser469Ala)	ACVR1 (S469A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920390	NM_001111067.4(ACVR1):c.454C>T (p.Arg152Cys)	ACVR1 (R152C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911198	NM_001111067.4(ACVR1):c.702G>A (p.Val234=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905726	NM_001111067.4(ACVR1):c.663G>A (p.Glu221=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905384	NM_001111067.4(ACVR1):c.466C>T (p.Arg156Cys)	ACVR1 (R156C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900795	NM_001111067.4(ACVR1):c.1385T>C (p.Phe462Ser)	ACVR1 (F462S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890298	NM_001111067.4(ACVR1):c.276G>A (p.Glu92=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889279	NM_001111067.4(ACVR1):c.1338G>A (p.Lys446=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885971	NM_001111067.4(ACVR1):c.52T>A (p.Ser18Thr)	ACVR1 (S18T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879333	NM_001111067.4(ACVR1):c.1403C>T (p.Thr468Ile)	ACVR1 (T468I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875502	NM_001111067.4(ACVR1):c.1124G>A (p.Arg375His)	ACVR1 (R375H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873696	NM_001111067.4(ACVR1):c.64G>C (p.Glu22Gln)	ACVR1 (E22Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869987	NM_001111067.4(ACVR1):c.1197T>C (p.Tyr399=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862709	NM_001111067.4(ACVR1):c.79A>G (p.Lys27Glu)	ACVR1 (K27E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859288	NM_001111067.4(ACVR1):c.332-12_361del	ACVR1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2852722	NM_001111067.4(ACVR1):c.365T>C (p.Leu122Ser)	ACVR1 (L122S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841307	NM_001111067.4(ACVR1):c.1071G>A (p.Leu357=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836751	NM_001111067.4(ACVR1):c.400G>T (p.Ala134Ser)	ACVR1 (A134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829557	NM_001111067.4(ACVR1):c.508C>T (p.Leu170Phe)	ACVR1 (L170F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826703	NM_001111067.4(ACVR1):c.68-9C>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824847	NM_001111067.4(ACVR1):c.1014G>T (p.Lys338Asn)	ACVR1 (K338N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821984	NM_001111067.4(ACVR1):c.544-14G>A	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815660	NM_001111067.4(ACVR1):c.67+10_67+11del	ACVR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2808724	NM_001111067.4(ACVR1):c.612G>A (p.Val204=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803832	NM_001111067.4(ACVR1):c.1368C>T (p.Asn456=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794998	NM_001111067.4(ACVR1):c.1067-15T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791329	NM_001111067.4(ACVR1):c.287G>A (p.Gly96Glu)	ACVR1 (G96E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782787	NM_001111067.4(ACVR1):c.501C>G (p.Ile167Met)	ACVR1 (I167M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780912	NM_001111067.4(ACVR1):c.638G>C (p.Cys213Ser)	ACVR1 (C213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778531	NM_001111067.4(ACVR1):c.1304T>C (p.Val435Ala)	ACVR1 (V435A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778093	NM_001111067.4(ACVR1):c.1249C>T (p.Arg417Trp)	ACVR1 (R417W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754704	NM_001111067.4(ACVR1):c.343C>T (p.Pro115Ser)	ACVR1 (P115S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742331	NM_001111067.4(ACVR1):c.726G>T (p.Glu242Asp)	ACVR1 (E242D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738063	NM_001111067.4(ACVR1):c.634G>T (p.Glu212Ter)	ACVR1 (E212*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2725644	NM_001111067.4(ACVR1):c.255G>A (p.Pro85=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723581	NM_001111067.4(ACVR1):c.107T>C (p.Val36Ala)	ACVR1 (V36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720880	NM_001111067.4(ACVR1):c.399C>T (p.Phe133=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716900	NM_001111067.4(ACVR1):c.469C>T (p.Leu157Phe)	ACVR1 (L157F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715161	NM_001111067.4(ACVR1):c.331+7A>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711913	NM_001111067.4(ACVR1):c.891T>A (p.Leu297=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711407	NM_001111067.4(ACVR1):c.116G>T (p.Gly39Val)	ACVR1 (G39V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709721	NM_001111067.4(ACVR1):c.550T>C (p.Leu184=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708583	NM_001111067.4(ACVR1):c.511A>G (p.Ile171Val)	ACVR1 (I171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708377	NM_001111067.4(ACVR1):c.1272GGA[1] (p.Glu425del)	ACVR1 (E425del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2706703	NM_001111067.4(ACVR1):c.332-4C>A	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706550	NM_001111067.4(ACVR1):c.797T>A (p.Ile266Asn)	ACVR1 (I266N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702319	NM_001111067.4(ACVR1):c.1458C>G (p.Leu486=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702296	NM_001111067.4(ACVR1):c.1483_1484del (p.Leu495fs)	ACVR1 (L495fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2701623	NM_001111067.4(ACVR1):c.1177G>A (p.Val393Met)	ACVR1 (V393M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696187	NM_001111067.4(ACVR1):c.543+12C>A	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695963	NM_001111067.4(ACVR1):c.543+13C>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693497	NM_001111067.4(ACVR1):c.236T>C (p.Met79Thr)	ACVR1 (M79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691494	NM_001111067.4(ACVR1):c.271G>A (p.Val91Met)	ACVR1 (V91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651445	NM_001111067.4(ACVR1):c.115G>A (p.Gly39Ser)	ACVR1 (G39S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2651444	NM_001111067.4(ACVR1):c.525T>C (p.Val175=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619024	NM_001111067.4(ACVR1):c.1054A>G (p.Ile352Val)	ACVR1 (I352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610528	NM_001111067.4(ACVR1):c.362A>G (p.His121Arg)	ACVR1 (H121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571089	NM_001111067.4(ACVR1):c.957G>C (p.Leu319Phe)	ACVR1 (L319F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2511334	NM_001111067.4(ACVR1):c.1255G>C (p.Val419Leu)	ACVR1 (V419L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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