ClinVar for MedGen (Select 4698) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438854	NM_001111067.4(ACVR1):c.1396-2dup	ACVR1	Duplication (splice acceptor variant)	Progressive myositis ossificans +1 more	GUncertain significance
Select item 1691349	NM_016373.4(WWOX):c.1200_1244dup (p.415Tyrext15)	MAF, WWOX	Duplication (inframe_insertion)	Progressive myositis ossificans	GUncertain significance
Select item 1188893	NM_001111067.4(ACVR1):c.68-25T>C	ACVR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 977222	NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys)	BMPR2 (E376K)	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 894786	NM_001111067.4(ACVR1):c.*137C>T	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 894298	NM_001111067.4(ACVR1):c.-183+673C>G	ACVR1	Single nucleotide variant (intron variant)	Progressive myositis ossificans	GUncertain significance
Select item 894297	NM_001111067.4(ACVR1):c.-183+822G>A	ACVR1	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myositis ossificans	GUncertain significance
Select item 893907	NM_001111067.4(ACVR1):c.-182-10C>T	ACVR1	Single nucleotide variant (intron variant)	Progressive myositis ossificans	GBenign
Select item 893906	NM_001111067.4(ACVR1):c.-99G>A	ACVR1	Single nucleotide variant (5 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 893905	NM_001111067.4(ACVR1):c.122C>T (p.Ser41Phe)	ACVR1 (S41F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 893617	NM_001111067.4(ACVR1):c.126C>T (p.Cys42=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GConflicting classifications of pathogenicity
Select item 893616	NM_001111067.4(ACVR1):c.484G>A (p.Val162Met)	ACVR1 (V162M)	Single nucleotide variant (missense variant)	Progressive myositis ossificans +1 more	GBenign/Likely benign
Select item 893615	NM_001111067.4(ACVR1):c.525T>A (p.Val175=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GConflicting classifications of pathogenicity
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 893589	NM_001111067.4(ACVR1):c.*752A>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 892813	NM_001111067.4(ACVR1):c.1029G>A (p.Leu343=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans	GUncertain significance
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 331703	NM_001111067.4(ACVR1):c.-183+919A>G	ACVR1	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myositis ossificans	GBenign
Select item 331702	NM_001111067.4(ACVR1):c.-55C>T	ACVR1	Single nucleotide variant (5 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331701	NM_001111067.4(ACVR1):c.-53C>T	ACVR1	Single nucleotide variant (5 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331700	NM_001111067.4(ACVR1):c.-13A>G	ACVR1	Single nucleotide variant (5 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331699	NM_001111067.4(ACVR1):c.99C>T (p.Tyr33=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GBenign
Select item 331698	NM_001111067.4(ACVR1):c.141C>G (p.His47Gln)	ACVR1 (H47Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 331697	NM_001111067.4(ACVR1):c.450A>G (p.Lys150=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GBenign/Likely benign
Select item 331696	NM_001111067.4(ACVR1):c.543+2dup	ACVR1	Duplication (splice donor variant)	Progressive myositis ossificans	GUncertain significance
Select item 331695	NM_001111067.4(ACVR1):c.561G>A (p.Ser187=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GLikely benign
Select item 331694	NM_001111067.4(ACVR1):c.643+7C>T	ACVR1	Single nucleotide variant (intron variant)	Progressive myositis ossificans +1 more	GBenign
Select item 331693	NM_001111067.4(ACVR1):c.644-3T>C	ACVR1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 331692	NM_001111067.4(ACVR1):c.820C>T (p.His274Tyr)	ACVR1 (H274Y)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GUncertain significance
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 331690	NM_001111067.4(ACVR1):c.1131C>T (p.Gly377=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	GBenign
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 331688	NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=)	ACVR1	Single nucleotide variant (synonymous variant)	Progressive myositis ossificans +1 more	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 331686	NM_001111067.4(ACVR1):c.*47C>T	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 331684	NM_001111067.4(ACVR1):c.*152G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331683	NM_001111067.4(ACVR1):c.*183G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
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 331681	NM_001111067.4(ACVR1):c.*250C>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
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 331679	NM_001111067.4(ACVR1):c.*358G>A	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
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 331677	NM_001111067.4(ACVR1):c.*500G>A	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 331675	NM_001111067.4(ACVR1):c.*711A>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 331674	NM_001111067.4(ACVR1):c.*762A>G	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331673	NM_001111067.4(ACVR1):c.*791A>T	ACVR1	Single nucleotide variant (3 prime UTR variant)	Progressive myositis ossificans	GBenign
Select item 331672	NM_001111067.4(ACVR1):c.*1036del	ACVR1	Deletion (3 prime UTR variant)	Progressive myositis ossificans	GUncertain significance
Select item 257466	NM_001111067.4(ACVR1):c.690G>A (p.Glu230=)	ACVR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 257465	NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly)	ACVR1 (A15G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 257464	NM_001111067.4(ACVR1):c.270C>T (p.Ala90=)	ACVR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 216885	NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)	ACVR1 (R258G)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GLikely pathogenic
Select item 208843	NM_001111067.4(ACVR1):c.587T>C (p.Leu196Pro)	ACVR1 (L196P)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GPathogenic
Select item 29597	NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile)	ACVR1 (R202I)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GPathogenic
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 29595	NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)	ACVR1 (G328E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 29594	NM_001111067.4(ACVR1):c.982G>T (p.Gly328Trp)	ACVR1 (G328W)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GPathogenic
Select item 29593	NM_001111067.4(ACVR1):c.982G>A (p.Gly328Arg)	ACVR1 (G328R)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GPathogenic
Select item 18311	NM_001111067.4(ACVR1):c.774G>C (p.Arg258Ser)	ACVR1 (R258S)	Single nucleotide variant (missense variant)	Progressive myositis ossificans	GPathogenic
Select item 18310	NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp)	ACVR1 (G356D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 18309	NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)	ACVR1 (R206H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic

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Links from MedGen

Items: 64