ACVR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	LOC132088765, LOC132088766 +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	ACVR1, ACVR1C +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 154128	GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1	ACVR1, ACVR1C +26 more	Copy number loss	See cases	GUncertain significance
Select item 331672	NM_001111067.4(ACVR1):c.*1036del	ACVR1	Deletion (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331673	NM_001111067.4(ACVR1):c.*791A>T	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331674	NM_001111067.4(ACVR1):c.*762A>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 893589	NM_001111067.4(ACVR1):c.*752A>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 893590	NM_001111067.4(ACVR1):c.*751T>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331675	NM_001111067.4(ACVR1):c.*711A>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331676	NM_001111067.4(ACVR1):c.*686T>C	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331677	NM_001111067.4(ACVR1):c.*500G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331678	NM_001111067.4(ACVR1):c.*421G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331679	NM_001111067.4(ACVR1):c.*358G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331680	NM_001111067.4(ACVR1):c.*314A>C	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331681	NM_001111067.4(ACVR1):c.*250C>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331682	NM_001111067.4(ACVR1):c.*210A>C	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 2014558	NM_001111067.4(ACVR1):c.1445_*204del (p.Pro482fs)	ACVR1 (P482fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 331683	NM_001111067.4(ACVR1):c.*183G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 893875	NM_001111067.4(ACVR1):c.*182C>T	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331684	NM_001111067.4(ACVR1):c.*152G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331685	NM_001111067.4(ACVR1):c.*138G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 894786	NM_001111067.4(ACVR1):c.*137C>T	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331686	NM_001111067.4(ACVR1):c.*47C>T	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331687	NM_001111067.4(ACVR1):c.*45G>T	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans +1 more	GBenign
Select item 452958	NM_001111067.4(ACVR1):c.1521dup (p.Asp508Ter)	ACVR1 (D508*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 331688	NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GBenign
Select item 744051	NM_001111067.4(ACVR1):c.1509C>T (p.Asp503=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 331689	NM_001111067.4(ACVR1):c.1506C>T (p.Leu502=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GBenign
Select item 2702296	NM_001111067.4(ACVR1):c.1483_1484del (p.Leu495fs)	ACVR1 (L495fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2000406	NM_001111067.4(ACVR1):c.1473C>T (p.Ile491=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702319	NM_001111067.4(ACVR1):c.1458C>G (p.Leu486=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763274	NM_001111067.4(ACVR1):c.1449C>T (p.Ser483=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948837	NM_001111067.4(ACVR1):c.1419A>T (p.Leu473=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925738	NM_001111067.4(ACVR1):c.1406C>G (p.Ser469Cys)	ACVR1 (S469C)	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 1931605	NM_001111067.4(ACVR1):c.1404C>T (p.Thr468=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1549835	NM_001111067.4(ACVR1):c.1398A>T (p.Thr466=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2438854	NM_001111067.4(ACVR1):c.1396-2dup	ACVR1	Duplication (splice acceptor variant)	Progressive myositis ossificans +1 more	GUncertain significance
Select item 1668940	NM_001111067.4(ACVR1):c.1396-20T>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289829	NM_001111067.4(ACVR1):c.1396-138G>A	ACVR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281624	NM_001111067.4(ACVR1):c.1396-231A>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2121078	NM_001111067.4(ACVR1):c.1395+20del	ACVR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1631556	NM_001111067.4(ACVR1):c.1395+15T>C	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1583312	NM_001111067.4(ACVR1):c.1395+7A>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748980	NM_001111067.4(ACVR1):c.1395+5G>A	ACVR1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3006873	NM_001111067.4(ACVR1):c.1395G>A (p.Pro465=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2146537	NM_001111067.4(ACVR1):c.1394C>T (p.Pro465Leu)	ACVR1 (P465L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 284754	NM_001111067.4(ACVR1):c.1392C>G (p.Asp464Glu)	ACVR1 (D464E)	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 2017858	NM_001111067.4(ACVR1):c.1374C>G (p.Pro458=)	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 2991877	NM_001111067.4(ACVR1):c.1360A>C (p.Arg454=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179590	NM_001111067.4(ACVR1):c.1350G>A (p.Val450=)	ACVR1	Single nucleotide variant (synonymous variant)	ACVR1-related condition +1 more	GLikely benign
Select item 1379334	NM_001111067.4(ACVR1):c.1348G>A (p.Val450Met)	ACVR1 (V450M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889279	NM_001111067.4(ACVR1):c.1338G>A (p.Lys446=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934872	NM_001111067.4(ACVR1):c.1338G>C (p.Lys446Asn)	ACVR1 (K446N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494946	NM_001111067.4(ACVR1):c.1318A>G (p.Ser440Gly)	ACVR1 (S440G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176938	NM_001111067.4(ACVR1):c.1310A>G (p.Asn437Ser)	ACVR1 (N437S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617572	NM_001111067.4(ACVR1):c.1308C>T (p.Pro436=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1942075	NM_001111067.4(ACVR1):c.1297G>A (p.Asp433Asn)	ACVR1 (D433N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618120	NM_001111067.4(ACVR1):c.1296C>T (p.Tyr432=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421529	NM_001111067.4(ACVR1):c.1290G>A (p.Pro430=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708377	NM_001111067.4(ACVR1):c.1272GGA[1] (p.Glu425del)	ACVR1 (E425del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2008418	NM_001111067.4(ACVR1):c.1265-7T>G	ACVR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634772	NM_001111067.4(ACVR1):c.1264+19A>C	ACVR1	Single nucleotide variant (intron 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 2511334	NM_001111067.4(ACVR1):c.1255G>C (p.Val419Leu)	ACVR1 (V419L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1474064	NM_001111067.4(ACVR1):c.1253T>C (p.Met418Thr)	ACVR1 (M418T)	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 808831	NM_001111067.4(ACVR1):c.1242G>A (p.Val414=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2024061	NM_001111067.4(ACVR1):c.1227T>C (p.Leu409=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2421839	NM_001111067.4(ACVR1):c.1204G>A (p.Val402Ile)	ACVR1 (V402I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483977	NM_001111067.4(ACVR1):c.1203G>T (p.Arg401Ser)	ACVR1 (R401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 423871	NM_001111067.4(ACVR1):c.1198A>G (p.Lys400Glu)	ACVR1 (K400E)	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 2958590	NM_001111067.4(ACVR1):c.1179G>T (p.Val393=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808832	NM_001111067.4(ACVR1):c.1178T>G (p.Val393Gly)	ACVR1 (V393G)	Single nucleotide variant (missense 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 758141	NM_001111067.4(ACVR1):c.1152C>T (p.Pro384=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754822	NM_001111067.4(ACVR1):c.1149C>T (p.Ala383=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038491	NM_001111067.4(ACVR1):c.1142A>G (p.Tyr381Cys)	ACVR1 (Y381C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043296	NM_001111067.4(ACVR1):c.1140C>T (p.Arg380=)	ACVR1	Single nucleotide variant (synonymous variant)	ACVR1-related condition	GLikely benign
Select item 331690	NM_001111067.4(ACVR1):c.1131C>T (p.Gly377=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GBenign
Select item 1510827	NM_001111067.4(ACVR1):c.1126G>A (p.Val376Met)	ACVR1 (V376M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 29596	NM_001111067.4(ACVR1):c.1124G>C (p.Arg375Pro)	ACVR1 (R375P)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GPathogenic
Select item 727207	NM_001111067.4(ACVR1):c.1109T>C (p.Val370Ala)	ACVR1 (V370A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 331691	NM_001111067.4(ACVR1):c.1086C>A (p.Ser362=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GBenign
Select item 2062108	NM_001111067.4(ACVR1):c.1080G>A (p.Met360Ile)	ACVR1 (M360I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973273	NM_001111067.4(ACVR1):c.1073C>A (p.Ala358Glu)	ACVR1 (A358E)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GUncertain significance
Select item 2841307	NM_001111067.4(ACVR1):c.1071G>A (p.Leu357=)	ACVR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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