ACVR1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1460761.	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 GRCh37: Chr2:144657717-159178136 GRCh38: Chr2:143900149-158321624	ACVR1, ACVR1C, ACVR2A, ARL5A, ARL6IP6, CACNB4, CCDC148, CCDC148-AS1, CYTIP, EPC2, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, GTDC1, KCNJ3, KIF5C, LINC01412, LINC01817, LINC01818, LINC01876, LINC01911, LINC01920, LINC01931, LINC01966, LINC02612, LINC02993, LOC101928386, LOC101929319, LOC107228318, LOC108348024, LOC110120671, LOC110120673, LOC110120674, LOC110120675, LOC110120706, LOC110120708, LOC110120710, LOC110120715, LOC110120731, LOC110120736, LOC110121086, LOC110121209, LOC111556122, LOC111721705, LOC112806051, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC121725105, LOC122819163, LOC122819164, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC126806362, LOC126806363, LOC126806364, LOC126806365, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TEX41, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2, UPP2, ZEB2, ZEB2-AS1		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 602162.	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 GRCh37: Chr2:148009516-158712890 GRCh38: Chr2:147251948-157856378	ACVR1, ACVR1C, ACVR2A, ARL5A, ARL6IP6, CACNB4, CYTIP, EPC2, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, KCNJ3, KIF5C, LINC01817, LINC01818, LINC01876, LINC01920, LINC01931, LINC02612, LOC101929319, LOC108348024, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC110121086, LOC111556122, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC126806365, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 602193.	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 GRCh37: Chr2:149674855-164061133 GRCh38: Chr2:148917286-163204623	ACVR1, ACVR1C, ARL5A, ARL6IP6, BAZ2B, BAZ2B-AS1, CACNB4, CCDC148, CCDC148-AS1, CD302, CYTIP, DAPL1, DPP4, DPP4-DT, ERMN, FAP, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GCA, GCG, GPD2, IFIH1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KIF5C, LINC01806, LINC01817, LINC01818, LINC01876, LINC01920, LINC01931, LINC02478, LINC02612, LOC101929319, LOC101929532, LOC108175345, LOC108281133, LOC108348024, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120708, LOC110120710, LOC110120736, LOC110121086, LOC110121120, LOC110121242, LOC111556122, LOC112806054, LOC112806055, LOC112806056, LOC114827830, LOC115945200, LOC117152610, LOC117152611, LOC120961787, LOC120977009, LOC120977010, LOC120977011, LOC120977012, LOC121725105, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LY75, LY75-CD302, LYPD6, LYPD6B, MARCHF7, MIR4773-1, MIR4773-2, MIR4785, MIR6888, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, PKP4, PKP4-AS1, PLA2R1, PRPF40A, PSMD14, PSMD14-DT, RBM43, RBMS1, RIF1, RND3, RPRM, SLC4A10, STAM2, TANC1, TANK, TANK-AS1, TBR1, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2, UPP2, WDSUB1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1545974.	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1 GRCh37: Chr2:152788858-160276245 GRCh38: Chr2:151932344-159419734	ACVR1, ACVR1C, ARL6IP6, BAZ2B, CACNB4, CCDC148, CCDC148-AS1, CYTIP, DAPL1, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, KCNJ3, LINC01876, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC110121120, LOC110121242, LOC111556122, LOC112806055, LOC120977010, LOC120977011, LOC121725105, LOC122847296, LOC122847297, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, MIR6888, NR4A2, PKP4, PKP4-AS1, PRPF40A, RPRM, STAM2, TANC1, TRA-CGC3-1, TRG-GCC2-2, UPP2, WDSUB1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1548965.	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 GRCh37: Chr2:154466227-159041637 GRCh38: Chr2:153609714-158185125	ACVR1, ACVR1C, CCDC148, CCDC148-AS1, CYTIP, ERMN, FLJ46875, GALNT13, GALNT13-AS1, GALNT5, GPD2, KCNJ3, LINC01876, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC111556122, LOC121725105, LOC122847298, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, NR4A2, TRA-CGC3-1, TRG-GCC2-2, UPP2		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 1541776.	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 GRCh37: Chr2:155150555-176854100 GRCh38: Chr2:154294042-175989372	SLC25A12, SLC38A11, SPC25, SLC4A10, SNORA70F, SNORD3K, SP3, SP5, SP9, SSB, STK39, TANC1, TANK, TANK-AS1, TBR1, TLK1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UBR3, UPP2, WDSUB1, WIPF1, XIRP2, XIRP2-AS1, ABCB11, ACVR1, ACVR1C, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BAZ2B, BAZ2B-AS1, BBS5, CCDC148, CCDC148-AS1, CD302, CDCA7, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CIR1, COBLL1, CSRNP3, CYBRD1, CYTIP, DAPL1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DPP4, DPP4-DT, DYNC1I2, ERICH2, ERICH2-DT, ERMN, FAP, FASTKD1, FIGN, FLJ46875, G6PC2, GAD1, GALNT13, GALNT13-AS1, GALNT3, GALNT5, GCA, GCG, GORASP2, GPD2, GPR155, GPR155-DT, GRB14, HAT1, IFIH1, ITGA6, ITGA6-AS1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KLHL23, KLHL41, LINC01124, LINC01305, LINC01806, LINC01876, LINC01960, LINC02478, LNPK, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120624, LOC110120625, LOC110120626, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120678, LOC110120701, LOC110120708, LOC110120710, LOC110120725, LOC110120730, LOC110120736, LOC110120790, LOC110120809, LOC110121120, LOC110121216, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC114827830, LOC115945201, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC120977014, LOC120977015, LOC121725105, LOC121725106, LOC121725107, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LRP2, LY75, LY75-CD302, MAP3K20, MAP3K20-AS1, MARCHF7, METAP1D, METTL5, METTL8, MIR4774, MIR4785, MIR6888, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, NR4A2, OLA1, PDK1, PHOSPHO2, PHOSPHO2-KLHL23, PKP4, PKP4-AS1, PLA2R1, PPIG, PSMD14, PSMD14-DT, RAPGEF4, RAPGEF4-AS1, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 591507.	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 GRCh37: Chr2:155223300-167905412 GRCh38: Chr2:154366788-167048902	ACVR1, ACVR1C, BAZ2B, BAZ2B-AS1, CCDC148, CCDC148-AS1, CD302, COBLL1, CSRNP3, CYTIP, DAPL1, DPP4, DPP4-DT, ERMN, FAP, FIGN, FLJ46875, GALNT13, GALNT13-AS1, GALNT3, GALNT5, GCA, GCG, GPD2, GRB14, IFIH1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, LINC01806, LINC01876, LINC02478, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120708, LOC110120710, LOC110120725, LOC110120736, LOC110121120, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC114827830, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC121725105, LOC121725106, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LY75, LY75-CD302, MARCHF7, MIR4785, MIR6888, NR4A2, PKP4, PKP4-AS1, PLA2R1, PSMD14, PSMD14-DT, RBMS1, SCN1A, SCN1A-AS1, WDSUB1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SLC4A10, SNORA70F, TANC1, TANK, TANK-AS1, XIRP2, TBR1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UPP2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 2363788.	Single allele GRCh37: Chr2:155363751-158667217 GRCh38: Chr2:154507239-157810705	ACVR1, ACVR1C, CYTIP, ERMN, FLJ46875, GALNT5, GPD2, KCNJ3, LINC01876, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC122847298, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, NR4A2, TRA-CGC3-1, TRG-GCC2-2		Autism spectrum disorder	Likely pathogenic (Oct 12, 2015)	criteria provided, single submitter
Select item 1541289.	GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1 GRCh37: Chr2:158274685-159134033 GRCh38: Chr2:157418173-158277521	ACVR1, ACVR1C, CCDC148, CCDC148-AS1, CYTIP, LOC121725105, LOC126806386, LOC126806387, LOC126806388, LOC126806389, UPP2		See cases	Uncertain significance (Mar 10, 2014)	no assertion criteria provided
Select item 33167210.	NM_001111067.4(ACVR1):c.*1036del GRCh37: Chr2:158593007 GRCh38: Chr2:157736495	ACVR1		Progressive myositis ossificans	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33167311.	NM_001111067.4(ACVR1):c.*791A>T GRCh37: Chr2:158593252 GRCh38: Chr2:157736740	ACVR1		Progressive myositis ossificans	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33167412.	NM_001111067.4(ACVR1):c.*762A>G GRCh37: Chr2:158593281 GRCh38: Chr2:157736769	ACVR1		Progressive myositis ossificans	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89358913.	NM_001111067.4(ACVR1):c.*752A>G GRCh37: Chr2:158593291 GRCh38: Chr2:157736779	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89359014.	NM_001111067.4(ACVR1):c.*751T>G GRCh37: Chr2:158593292 GRCh38: Chr2:157736780	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33167515.	NM_001111067.4(ACVR1):c.*711A>G GRCh37: Chr2:158593332 GRCh38: Chr2:157736820	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33167616.	NM_001111067.4(ACVR1):c.*686T>C GRCh37: Chr2:158593357 GRCh38: Chr2:157736845	ACVR1		Progressive myositis ossificans	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33167717.	NM_001111067.4(ACVR1):c.*500G>A GRCh37: Chr2:158593543 GRCh38: Chr2:157737031	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33167818.	NM_001111067.4(ACVR1):c.*421G>A GRCh37: Chr2:158593622 GRCh38: Chr2:157737110	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33167919.	NM_001111067.4(ACVR1):c.*358G>A GRCh37: Chr2:158593685 GRCh38: Chr2:157737173	ACVR1		Progressive myositis ossificans	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33168020.	NM_001111067.4(ACVR1):c.*314A>C GRCh37: Chr2:158593729 GRCh38: Chr2:157737217	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33168121.	NM_001111067.4(ACVR1):c.*250C>G GRCh37: Chr2:158593793 GRCh38: Chr2:157737281	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33168222.	NM_001111067.4(ACVR1):c.*210A>C GRCh37: Chr2:158593833 GRCh38: Chr2:157737321	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 201455823.	NM_001111067.4(ACVR1):c.1445_*204del (p.Pro482fs) GRCh37: Chr2:158593839-158594128 GRCh38: Chr2:157737327-157737616	ACVR1	P482fs	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 33168324.	NM_001111067.4(ACVR1):c.*183G>A GRCh37: Chr2:158593860 GRCh38: Chr2:157737348	ACVR1		Progressive myositis ossificans	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89387525.	NM_001111067.4(ACVR1):c.*182C>T GRCh37: Chr2:158593861 GRCh38: Chr2:157737349	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33168426.	NM_001111067.4(ACVR1):c.*152G>A GRCh37: Chr2:158593891 GRCh38: Chr2:157737379	ACVR1		Progressive myositis ossificans	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33168527.	NM_001111067.4(ACVR1):c.*138G>A GRCh37: Chr2:158593905 GRCh38: Chr2:157737393	ACVR1		not provided, Progressive myositis ossificans	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89478628.	NM_001111067.4(ACVR1):c.*137C>T GRCh37: Chr2:158593906 GRCh38: Chr2:157737394	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33168629.	NM_001111067.4(ACVR1):c.*47C>T GRCh37: Chr2:158593996 GRCh38: Chr2:157737484	ACVR1		Progressive myositis ossificans	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33168730.	NM_001111067.4(ACVR1):c.*45G>T GRCh37: Chr2:158593998 GRCh38: Chr2:157737486	ACVR1		not provided, Progressive myositis ossificans	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45295831.	NM_001111067.4(ACVR1):c.1521dup (p.Asp508Ter) GRCh37: Chr2:158594051-158594052 GRCh38: Chr2:157737539-157737540	ACVR1	D508*	not provided	Uncertain significance (Oct 23, 2020)	criteria provided, single submitter
Select item 33168832.	NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=) GRCh37: Chr2:158594060 GRCh38: Chr2:157737548	ACVR1		not provided, Progressive myositis ossificans	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74405133.	NM_001111067.4(ACVR1):c.1509C>T (p.Asp503=) GRCh37: Chr2:158594064 GRCh38: Chr2:157737552	ACVR1		not provided	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 33168934.	NM_001111067.4(ACVR1):c.1506C>T (p.Leu502=) GRCh37: Chr2:158594067 GRCh38: Chr2:157737555	ACVR1		not provided, Progressive myositis ossificans	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200040635.	NM_001111067.4(ACVR1):c.1473C>T (p.Ile491_Lys492=) GRCh37: Chr2:158594100 GRCh38: Chr2:157737588	ACVR1		not provided	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 76327436.	NM_001111067.4(ACVR1):c.1449C>T (p.Ser483=) GRCh37: Chr2:158594124 GRCh38: Chr2:157737612	ACVR1		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 194883737.	NM_001111067.4(ACVR1):c.1419A>T (p.Leu473_Met474=) GRCh37: Chr2:158594154 GRCh38: Chr2:157737642	ACVR1		not provided	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 192573838.	NM_001111067.4(ACVR1):c.1406C>G (p.Ser469Cys) GRCh37: Chr2:158594167 GRCh38: Chr2:157737655	ACVR1	S469C	not provided	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 193160539.	NM_001111067.4(ACVR1):c.1404C>T (p.Thr468_Ser469=) GRCh37: Chr2:158594169 GRCh38: Chr2:157737657	ACVR1		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 154983540.	NM_001111067.4(ACVR1):c.1398A>T (p.Thr466=) GRCh37: Chr2:158594175 GRCh38: Chr2:157737663	ACVR1		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 243885441.	NM_001111067.4(ACVR1):c.1396-2dup GRCh37: Chr2:158594178-158594179 GRCh38: Chr2:157737666-157737667	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 166894042.	NM_001111067.4(ACVR1):c.1396-20T>G GRCh37: Chr2:158594197 GRCh38: Chr2:157737685	ACVR1		not provided	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 128982943.	NM_001111067.4(ACVR1):c.1396-138G>A GRCh37: Chr2:158594315 GRCh38: Chr2:157737803	ACVR1		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 128162444.	NM_001111067.4(ACVR1):c.1396-231A>G GRCh37: Chr2:158594408 GRCh38: Chr2:157737896	ACVR1		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 212107845.	NM_001111067.4(ACVR1):c.1395+20del GRCh37: Chr2:158594932 GRCh38: Chr2:157738420	ACVR1		not provided	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 163155646.	NM_001111067.4(ACVR1):c.1395+15T>C GRCh37: Chr2:158594937 GRCh38: Chr2:157738425	ACVR1		not provided	Likely benign (Oct 10, 2021)	criteria provided, single submitter
Select item 158331247.	NM_001111067.4(ACVR1):c.1395+7A>G GRCh37: Chr2:158594945 GRCh38: Chr2:157738433	ACVR1		not provided	Benign (May 3, 2022)	criteria provided, single submitter
Select item 74898048.	NM_001111067.4(ACVR1):c.1395+5G>A GRCh37: Chr2:158594947 GRCh38: Chr2:157738435	ACVR1		Progressive myositis ossificans, not provided	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214653749.	NM_001111067.4(ACVR1):c.1394C>T (p.Pro465Leu) GRCh37: Chr2:158594953 GRCh38: Chr2:157738441	ACVR1	P465L	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 28475450.	NM_001111067.4(ACVR1):c.1392C>G (p.Asp464Glu) GRCh37: Chr2:158594955 GRCh38: Chr2:157738443	ACVR1	D464E	not provided	Uncertain significance (Nov 24, 2015)	criteria provided, single submitter
Select item 201785851.	NM_001111067.4(ACVR1):c.1374C>G (p.Pro458_Asn459=) GRCh37: Chr2:158594973 GRCh38: Chr2:157738461	ACVR1		not provided	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 217959052.	NM_001111067.4(ACVR1):c.1350G>A (p.Val450_Asp451=) GRCh37: Chr2:158594997 GRCh38: Chr2:157738485	ACVR1		not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 137933453.	NM_001111067.4(ACVR1):c.1348G>A (p.Val450Met) GRCh37: Chr2:158594999 GRCh38: Chr2:157738487	ACVR1	V450M	not provided	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 193487254.	NM_001111067.4(ACVR1):c.1338G>C (p.Lys446Asn) GRCh37: Chr2:158595009 GRCh38: Chr2:157738497	ACVR1	K446N	not provided	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 149494655.	NM_001111067.4(ACVR1):c.1318A>G (p.Ser440Gly) GRCh37: Chr2:158595029 GRCh38: Chr2:157738517	ACVR1	S440G	not provided	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 217693856.	NM_001111067.4(ACVR1):c.1310A>G (p.Asn437Ser) GRCh37: Chr2:158595037 GRCh38: Chr2:157738525	ACVR1	N437S	not provided	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 161757257.	NM_001111067.4(ACVR1):c.1308C>T (p.Pro436=) GRCh37: Chr2:158595039 GRCh38: Chr2:157738527	ACVR1		not provided	Likely benign (Nov 16, 2021)	criteria provided, single submitter
Select item 194207558.	NM_001111067.4(ACVR1):c.1297G>A (p.Asp433Asn) GRCh37: Chr2:158595050 GRCh38: Chr2:157738538	ACVR1	D433N	not provided	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 161812059.	NM_001111067.4(ACVR1):c.1296C>T (p.Tyr432=) GRCh37: Chr2:158595051 GRCh38: Chr2:157738539	ACVR1		not provided	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 242152960.	NM_001111067.4(ACVR1):c.1290G>A (p.Pro430_Phe431=) GRCh37: Chr2:158595057 GRCh38: Chr2:157738545	ACVR1		not provided	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 200841861.	NM_001111067.4(ACVR1):c.1265-7T>G GRCh37: Chr2:158595089 GRCh38: Chr2:157738577	ACVR1		not provided	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 163477262.	NM_001111067.4(ACVR1):c.1264+19A>C GRCh37: Chr2:158617373 GRCh38: Chr2:157760861	ACVR1		not provided	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 147406463.	NM_001111067.4(ACVR1):c.1253T>C (p.Met418Thr) GRCh37: Chr2:158617403 GRCh38: Chr2:157760891	ACVR1	M418T	not provided	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 80883164.	NM_001111067.4(ACVR1):c.1242G>A (p.Val414=) GRCh37: Chr2:158617414 GRCh38: Chr2:157760902	ACVR1		not provided	Uncertain significance (Jul 1, 2017)	criteria provided, single submitter
Select item 202406165.	NM_001111067.4(ACVR1):c.1227T>C (p.Leu409_Val410=) GRCh37: Chr2:158617429 GRCh38: Chr2:157760917	ACVR1		not provided	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 242183966.	NM_001111067.4(ACVR1):c.1204G>A (p.Val402Ile) GRCh37: Chr2:158617452 GRCh38: Chr2:157760940	ACVR1	V402I	not provided	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 42387167.	NM_001111067.4(ACVR1):c.1198A>G (p.Lys400Glu) GRCh37: Chr2:158617458 GRCh38: Chr2:157760946	ACVR1	K400E	not provided	Uncertain significance (Feb 24, 2017)	criteria provided, single submitter
Select item 80883268.	NM_001111067.4(ACVR1):c.1178T>G (p.Val393Gly) GRCh37: Chr2:158617478 GRCh38: Chr2:157760966	ACVR1	V393G	not provided	Uncertain significance (Apr 1, 2017)	criteria provided, single submitter
Select item 75814169.	NM_001111067.4(ACVR1):c.1152C>T (p.Pro384=) GRCh37: Chr2:158617504 GRCh38: Chr2:157760992	ACVR1		not provided	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 75482270.	NM_001111067.4(ACVR1):c.1149C>T (p.Ala383=) GRCh37: Chr2:158617507 GRCh38: Chr2:157760995	ACVR1		not provided	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 203849171.	NM_001111067.4(ACVR1):c.1142A>G (p.Tyr381Cys) GRCh37: Chr2:158617514 GRCh38: Chr2:157761002	ACVR1	Y381C	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 33169072.	NM_001111067.4(ACVR1):c.1131C>T (p.Gly377=) GRCh37: Chr2:158617525 GRCh38: Chr2:157761013	ACVR1		not provided, Progressive myositis ossificans	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151082773.	NM_001111067.4(ACVR1):c.1126G>A (p.Val376Met) GRCh37: Chr2:158617530 GRCh38: Chr2:157761018	ACVR1	V376M	not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 2959674.	NM_001111067.4(ACVR1):c.1124G>C (p.Arg375Pro) GRCh37: Chr2:158617532 GRCh38: Chr2:157761020	ACVR1	R375P	Progressive myositis ossificans	Pathogenic (Mar 1, 2009)	no assertion criteria provided
Select item 72720775.	NM_001111067.4(ACVR1):c.1109T>C (p.Val370Ala) GRCh37: Chr2:158617547 GRCh38: Chr2:157761035	ACVR1	V370A	not provided	Likely benign (Feb 26, 2018)	criteria provided, single submitter
Select item 33169176.	NM_001111067.4(ACVR1):c.1086C>A (p.Ser362=) GRCh37: Chr2:158617570 GRCh38: Chr2:157761058	ACVR1		not provided, Progressive myositis ossificans	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206210877.	NM_001111067.4(ACVR1):c.1080G>A (p.Met360Ile) GRCh37: Chr2:158617576 GRCh38: Chr2:157761064	ACVR1	M360I	not provided	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 97327378.	NM_001111067.4(ACVR1):c.1073C>A (p.Ala358Glu) GRCh37: Chr2:158617583 GRCh38: Chr2:157761071	ACVR1	A358E	Progressive myositis ossificans	Uncertain significance (Feb 18, 2020)	criteria provided, single submitter
Select item 1831079.	NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp) GRCh37: Chr2:158617589 GRCh38: Chr2:157761077	ACVR1	G356D	not provided, Progressive myositis ossificans	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193198180.	NM_001111067.4(ACVR1):c.1067-13T>G GRCh37: Chr2:158617602 GRCh38: Chr2:157761090	ACVR1		not provided	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 126087181.	NM_001111067.4(ACVR1):c.1067-225T>C GRCh37: Chr2:158617814 GRCh38: Chr2:157761302	ACVR1		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 161153482.	NM_001111067.4(ACVR1):c.1066+17A>G GRCh37: Chr2:158622416 GRCh38: Chr2:157765904	ACVR1		not provided	Likely benign (Oct 18, 2021)	criteria provided, single submitter
Select item 144829283.	NM_001111067.4(ACVR1):c.1038G>T (p.Lys346Asn) GRCh37: Chr2:158622461 GRCh38: Chr2:157765949	ACVR1	K346N	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 89281384.	NM_001111067.4(ACVR1):c.1029G>A (p.Leu343=) GRCh37: Chr2:158622470 GRCh38: Chr2:157765958	ACVR1		Progressive myositis ossificans	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 200339385.	NM_001111067.4(ACVR1):c.1018A>G (p.Lys340Glu) GRCh37: Chr2:158622481 GRCh38: Chr2:157765969	ACVR1	K340E	not provided	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 221791586.	NM_001111067.4(ACVR1):c.988C>G (p.Pro330Ala) GRCh37: Chr2:158622511 GRCh38: Chr2:157765999	ACVR1	P330A	Inborn genetic diseases	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 150207387.	NM_001111067.4(ACVR1):c.988C>T (p.Pro330Ser) GRCh37: Chr2:158622511 GRCh38: Chr2:157765999	ACVR1	P330S	not provided	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 37636388.	NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val) GRCh37: Chr2:158622516 GRCh38: Chr2:157766004	ACVR1	G328V	Diffuse intrinsic pontine glioma	other	criteria provided, single submitter
Select item 2959589.	NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) GRCh37: Chr2:158622516 GRCh38: Chr2:157766004	ACVR1	G328E	Inborn genetic diseases, Progressive myositis ossificans	Pathogenic/Likely pathogenic (Oct 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 2959490.	NM_001111067.4(ACVR1):c.982G>T (p.Gly328Trp) GRCh37: Chr2:158622517 GRCh38: Chr2:157766005	ACVR1	G328W	Progressive myositis ossificans	Pathogenic (Mar 1, 2009)	no assertion criteria provided
Select item 2959391.	NM_001111067.4(ACVR1):c.982G>A (p.Gly328Arg) GRCh37: Chr2:158622517 GRCh38: Chr2:157766005	ACVR1	G328R	Progressive myositis ossificans	Pathogenic (Mar 1, 2009)	no assertion criteria provided
Select item 203213592.	NM_001111067.4(ACVR1):c.957G>A (p.Leu319_His320=) GRCh37: Chr2:158622542 GRCh38: Chr2:157766030	ACVR1		not provided	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 138449093.	NM_001111067.4(ACVR1):c.920G>A (p.Arg307Gln) GRCh37: Chr2:158622579 GRCh38: Chr2:157766067	ACVR1	R307Q	not provided, Inborn genetic diseases	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 196873794.	NM_001111067.4(ACVR1):c.894T>C (p.Thr298_Thr299=) GRCh37: Chr2:158622605 GRCh38: Chr2:157766093	ACVR1		not provided	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 153330895.	NM_001111067.4(ACVR1):c.879C>T (p.Asp293=) GRCh37: Chr2:158622620 GRCh38: Chr2:157766108	ACVR1		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 76245096.	NM_001111067.4(ACVR1):c.876C>T (p.Tyr292=) GRCh37: Chr2:158622623 GRCh38: Chr2:157766111	ACVR1		not provided	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 71345397.	NM_001111067.4(ACVR1):c.870G>A (p.Ser290=) GRCh37: Chr2:158622629 GRCh38: Chr2:157766117	ACVR1		not provided	Benign (Jul 18, 2022)	criteria provided, single submitter
Select item 190237698.	NM_001111067.4(ACVR1):c.864G>A (p.Met288Ile) GRCh37: Chr2:158622635 GRCh38: Chr2:157766123	ACVR1	M288I	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 33169299.	NM_001111067.4(ACVR1):c.820C>T (p.His274Tyr) GRCh37: Chr2:158622679 GRCh38: Chr2:157766167	ACVR1	H274Y	Progressive myositis ossificans	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 2122828100.	NM_001111067.4(ACVR1):c.790+19C>T GRCh37: Chr2:158626861 GRCh38: Chr2:157770349	ACVR1		not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter

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