ClinVar for MedGen (Select 4698) - ClinVar

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Items: 64

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24388541.	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 16913492.	NM_016373.4(WWOX):c.1200_1244dup (p.415Tyrext15) GRCh37: Chr16:79245647-79245648 GRCh38: Chr16:79211750-79211751	MAF, WWOX		Progressive myositis ossificans	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 11888933.	NM_001111067.4(ACVR1):c.68-25T>C GRCh37: Chr2:158637137 GRCh38: Chr2:157780625	ACVR1		Progressive myositis ossificans, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9772224.	NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) GRCh37: Chr2:203395675 GRCh38: Chr2:202530952	BMPR2	E376K	not provided	Uncertain significance (Mar 15, 2023)	criteria provided, single submitter
Select item 9732735.	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 8947866.	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 8942987.	NM_001111067.4(ACVR1):c.-183+673C>G GRCh37: Chr2:158731635 GRCh38: Chr2:157875123	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8942978.	NM_001111067.4(ACVR1):c.-183+822G>A GRCh37: Chr2:158731486 GRCh38: Chr2:157874974	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8939079.	NM_001111067.4(ACVR1):c.-182-10C>T GRCh37: Chr2:158675081 GRCh38: Chr2:157818569	ACVR1		Progressive myositis ossificans	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89390610.	NM_001111067.4(ACVR1):c.-99G>A GRCh37: Chr2:158674988 GRCh38: Chr2:157818476	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89390511.	NM_001111067.4(ACVR1):c.122C>T (p.Ser41Phe) GRCh37: Chr2:158637058 GRCh38: Chr2:157780546	ACVR1	S41F	not provided, Progressive myositis ossificans, Inborn genetic diseases	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89387512.	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 89361713.	NM_001111067.4(ACVR1):c.126C>T (p.Cys42=) GRCh37: Chr2:158637054 GRCh38: Chr2:157780542	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89361614.	NM_001111067.4(ACVR1):c.484G>A (p.Val162Met) GRCh37: Chr2:158634702 GRCh38: Chr2:157778190	ACVR1	V162M	not provided, Progressive myositis ossificans	Benign/Likely benign (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89361515.	NM_001111067.4(ACVR1):c.525T>A (p.Val175=) GRCh37: Chr2:158634661 GRCh38: Chr2:157778149	ACVR1		Progressive myositis ossificans, not provided	Conflicting interpretations of pathogenicity (Mar 27, 2022)	criteria provided, conflicting interpretations
Select item 89359016.	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 89358917.	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 89281318.	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 74898019.	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 33170320.	NM_001111067.4(ACVR1):c.-183+919A>G GRCh37: Chr2:158731389 GRCh38: Chr2:157874877	ACVR1		Progressive myositis ossificans	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33170221.	NM_001111067.4(ACVR1):c.-55C>T GRCh37: Chr2:158674944 GRCh38: Chr2:157818432	ACVR1		Progressive myositis ossificans	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33170122.	NM_001111067.4(ACVR1):c.-53C>T GRCh37: Chr2:158674942 GRCh38: Chr2:157818430	ACVR1		Progressive myositis ossificans	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33170023.	NM_001111067.4(ACVR1):c.-13A>G GRCh37: Chr2:158674902 GRCh38: Chr2:157818390	ACVR1		Progressive myositis ossificans	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33169924.	NM_001111067.4(ACVR1):c.99C>T (p.Tyr33=) GRCh37: Chr2:158637081 GRCh38: Chr2:157780569	ACVR1		not provided, Progressive myositis ossificans	Benign (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33169825.	NM_001111067.4(ACVR1):c.141C>G (p.His47Gln) GRCh37: Chr2:158637039 GRCh38: Chr2:157780527	ACVR1	H47Q	not provided, Progressive myositis ossificans	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33169726.	NM_001111067.4(ACVR1):c.450A>G (p.Lys150=) GRCh37: Chr2:158634736 GRCh38: Chr2:157778224	ACVR1		Progressive myositis ossificans, not provided	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33169627.	NM_001111067.4(ACVR1):c.543+2dup GRCh37: Chr2:158634640-158634641 GRCh38: Chr2:157778128-157778129	ACVR1		Progressive myositis ossificans	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33169528.	NM_001111067.4(ACVR1):c.561G>A (p.Ser187=) GRCh37: Chr2:158630682 GRCh38: Chr2:157774170	ACVR1		not provided, Progressive myositis ossificans	Likely benign (Jun 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33169429.	NM_001111067.4(ACVR1):c.643+7C>T GRCh37: Chr2:158630593 GRCh38: Chr2:157774081	ACVR1		not provided, Progressive myositis ossificans	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33169330.	NM_001111067.4(ACVR1):c.644-3T>C GRCh37: Chr2:158627029 GRCh38: Chr2:157770517	ACVR1		not provided, Progressive myositis ossificans	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 33169231.	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 33169132.	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 33169033.	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 33168934.	NM_001111067.4(ACVR1):c.1506C>T (p.Leu502=) GRCh37: Chr2:158594067 GRCh38: Chr2:157737555	ACVR1		Progressive myositis ossificans, not provided	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33168835.	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 33168736.	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 33168637.	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 33168538.	NM_001111067.4(ACVR1):c.*138G>A GRCh37: Chr2:158593905 GRCh38: Chr2:157737393	ACVR1		Progressive myositis ossificans, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33168439.	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 33168340.	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 33168241.	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 33168142.	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 33168043.	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 33167944.	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 33167845.	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 33167746.	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 33167647.	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 33167548.	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 33167449.	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 33167350.	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 33167251.	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 25746652.	NM_001111067.4(ACVR1):c.690G>A (p.Glu230=) GRCh37: Chr2:158626980 GRCh38: Chr2:157770468	ACVR1		not specified, not provided, Progressive myositis ossificans	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25746553.	NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly) GRCh37: Chr2:158655962 GRCh38: Chr2:157799450	ACVR1	A15G	not specified, not provided, Progressive myositis ossificans	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25746454.	NM_001111067.4(ACVR1):c.270C>T (p.Ala90=) GRCh37: Chr2:158636910 GRCh38: Chr2:157780398	ACVR1		Progressive myositis ossificans, not specified, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21688555.	NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly) GRCh37: Chr2:158626898 GRCh38: Chr2:157770386	ACVR1	R258G	Progressive myositis ossificans	Likely pathogenic (Nov 27, 2012)	criteria provided, single submitter
Select item 20884356.	NM_001111067.4(ACVR1):c.587T>C (p.Leu196Pro) GRCh37: Chr2:158630656 GRCh38: Chr2:157774144	ACVR1	L196P	Progressive myositis ossificans	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 2959757.	NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile) GRCh37: Chr2:158630638 GRCh38: Chr2:157774126	ACVR1	R202I	Progressive myositis ossificans	Pathogenic (Jun 1, 2011)	no assertion criteria provided
Select item 2959658.	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 2959559.	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 2959460.	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 2959361.	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 1831162.	NM_001111067.4(ACVR1):c.774G>C (p.Arg258Ser) GRCh37: Chr2:158626896 GRCh38: Chr2:157770384	ACVR1	R258S	Progressive myositis ossificans	Pathogenic (Mar 1, 2009)	no assertion criteria provided
Select item 1831063.	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 1830964.	NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) GRCh37: Chr2:158630626 GRCh38: Chr2:157774114	ACVR1	R206H	Inborn genetic diseases, not provided, Progressive myositis ossificans, Epicanthus	Pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 64