ClinVar for MedGen (Select 316944) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671940	NM_007078.3(LDB3):c.608C>G (p.Ser203Trp)	LDB3 (S203W)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 2665023	NM_007078.3(LDB3):c.1231+949C>T	LDB3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 2500053	NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro)	LDB3	Microsatellite (inframe_insertion +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 1802214	NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)	LDB3 (R431Q +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 1783337	NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)	LDB3 (G606R +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 1532366	NM_007078.3(LDB3):c.672T>C (p.Gly224=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4 +1 more	GLikely benign
Select item 1490672	NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile)	LDB3 (T475I +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 1433678	NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter)	LDB3 (E540* +4 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 1433621	NM_007078.3(LDB3):c.155T>C (p.Ile52Thr)	LDB3 (I52T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1415919	NM_007078.3(LDB3):c.716T>C (p.Val239Ala)	LDB3 (V307A +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +2 more	GUncertain significance
Select item 1345300	NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser)	LDB3 (T435S +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 1341830	NM_007078.3(LDB3):c.1978+1184G>A	LDB3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 1308092	NM_007078.3(LDB3):c.13G>A (p.Val5Met)	LDB3 (V5M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1298346	NM_007078.3(LDB3):c.491C>T (p.Pro164Leu)	LDB3 (P164L)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 1174716	NM_007078.3(LDB3):c.742G>A (p.Ala248Thr)	LDB3 (A201T +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +3 more	GUncertain significance
Select item 1123197	NM_001368067.1(LDB3):c.849C>T (p.Ser283=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4 +1 more	GLikely benign
Select item 1002404	NM_007078.3(LDB3):c.2037C>T (p.Gly679=)	LDB3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1C +2 more	GConflicting classifications of pathogenicity
Select item 997782	NM_007078.3(LDB3):c.*30C>G	LDB3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 997781	NM_007078.3(LDB3):c.896+86G>A	LDB3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 997780	NM_007078.3(LDB3):c.896+11G>A	LDB3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 997779	NM_007078.3(LDB3):c.859+81G>A	LDB3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 997778	NM_007078.3(LDB3):c.2146C>T (p.Pro716Ser)	LDB3 (P606S +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 997777	NM_007078.3(LDB3):c.1818T>A (p.Phe606Leu)	LDB3 (F496L +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C	GPathogenic
Select item 997776	NM_007078.3(LDB3):c.1723T>A (p.Phe575Ile)	LDB3 (F465I +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C	GPathogenic
Select item 997775	NM_007078.3(LDB3):c.1213C>A (p.Pro405Thr)	LDB3 (P295T +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 997774	NM_007078.3(LDB3):c.718G>A (p.Asp240Asn)	LDB3 (D193N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C	GLikely pathogenic
Select item 997773	NM_007078.3(LDB3):c.693C>A (p.Ser231Arg)	LDB3 (S184R +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C	GLikely benign
Select item 997772	NM_007078.3(LDB3):c.692G>T (p.Ser231Ile)	LDB3 (S184I +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C	GLikely benign
Select item 972381	NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1])	LDB3	Microsatellite (inframe_deletion +1 more)	Dilated cardiomyopathy 1C +2 more	GUncertain significance
Select item 967769	NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys)	LDB3 (R440C +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 967716	NM_007078.3(LDB3):c.897-1_897del	LDB3	Deletion (intron variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 967392	NM_007078.3(LDB3):c.55G>C (p.Gly19Arg)	LDB3 (G19R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 960651	NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)	LDB3 (A195T +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +3 more	GUncertain significance
Select item 943493	NM_007078.3(LDB3):c.892T>C (p.Ser298Pro)	LDB3 (S298P +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 932025	NM_007078.3(LDB3):c.1678G>A (p.Gly560Ser)	LDB3 (G450S +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C	GUncertain significance
Select item 880175	NM_007078.3(LDB3):c.896+6695T>C	LDB3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 880174	NM_007078.3(LDB3):c.818G>A (p.Arg273His)	LDB3 (R341H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 880080	NM_007078.3(LDB3):c.-20C>T	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 879063	NM_007078.3(LDB3):c.897-6664G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 879009	NM_007078.3(LDB3):c.897-6861G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 878480	NM_007078.3(LDB3):c.897-6692C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 878479	NM_007078.3(LDB3):c.897-6700G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 878478	NM_007078.3(LDB3):c.897-6702C>G	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 877457	NM_007078.3(LDB3):c.897-6719C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 877456	NM_007078.3(LDB3):c.897-6745C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 877398	NM_007078.3(LDB3):c.896+6872G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 877397	NM_007078.3(LDB3):c.896+6814G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 864365	NM_007078.3(LDB3):c.145G>C (p.Val49Leu)	LDB3 (V49L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +3 more	GUncertain significance
Select item 839351	NM_007078.3(LDB3):c.784G>A (p.Glu262Lys)	LDB3 (E215K +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +2 more	GUncertain significance
Select item 675320	NM_007078.3(LDB3):c.690-4571A>C	LDB3, LOC110121486	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 665826	NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys)	LDB3, LOC110121486 (N111K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 659124	NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer)	LDB3	Indel (inframe_indel)	Dilated cardiomyopathy 1C +2 more	GUncertain significance
Select item 655105	NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)	LDB3 (R294Q +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 646981	NM_007078.3(LDB3):c.1696A>G (p.Met566Val)	LDB3 (M456V +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 640656	NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly)	LDB3 (S435G +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +3 more	GUncertain significance
Select item 565990	NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn)	LDB3 (T507N +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 532931	NM_001368067.1(LDB3):c.490G>C (p.Asp164His)	LDB3, LOC110121486 (D164H +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 532921	NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)	LDB3 (I725N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 518778	NM_007078.3(LDB3):c.548del (p.Pro183fs)	LDB3 (P183fs)	Deletion (frameshift variant +1 more)	Myofibrillar myopathy 4 +2 more	GConflicting classifications of pathogenicity
Select item 518772	NM_007078.3(LDB3):c.338C>T (p.Thr113Met)	LDB3 (T113M)	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 464286	NM_007078.3(LDB3):c.1703G>A (p.Arg568His)	LDB3 (R568H +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 464285	NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)	LDB3 (R564Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 450281	NM_007078.3(LDB3):c.805A>C (p.Asn269His)	LDB3 (N222H +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 439858	NM_007078.3(LDB3):c.236C>T (p.Thr79Ile)	LDB3 (T79I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 426972	NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)	LDB3 (A501V +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +4 more	GUncertain significance
Select item 406810	NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)	LDB3 (P418R +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 406804	NM_007078.3(LDB3):c.886C>T (p.Arg296Ter)	LDB3 (R249* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 406803	NM_007078.3(LDB3):c.1962G>A (p.Glu654=)	LDB3	Single nucleotide variant (genic downstream transcript variant +1 more)	not provided +3 more	GLikely benign
Select item 406798	NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)	LDB3 (T430N +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +3 more	GUncertain significance
Select item 383596	NM_007078.3(LDB3):c.1858-11C>A	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 301344	NM_007078.3(LDB3):c.897-6525T>C	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 301342	NM_007078.3(LDB3):c.897-6707G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar myopathy 4 +4 more	GConflicting classifications of pathogenicity
Select item 301341	NM_007078.3(LDB3):c.897-6831C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 301339	NM_007078.3(LDB3):c.897-6909G>A	LDB3	Single nucleotide variant (intron variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 301337	NM_007078.3(LDB3):c.896+6957G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 301336	NM_007078.3(LDB3):c.723C>T (p.Ser241=)	LDB3	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 301332	NM_007078.3(LDB3):c.30C>G (p.Pro10=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 301330	NM_007078.3(LDB3):c.-24+41G>A	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 279835	NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)	LDB3 (Q409K +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 257338	NM_007078.3(LDB3):c.859+47G>C	LDB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 257337	NM_007078.3(LDB3):c.689+3825G>C	LDB3, LOC110121486	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 240719	NM_007078.3(LDB3):c.1851T>C (p.Ile617=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 235003	NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)	LDB3 (K184E)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 228793	NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)	LDB3 (S385G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 227496	NM_007078.3(LDB3):c.1167C>T (p.Ala389=)	LDB3	Single nucleotide variant (genic downstream transcript variant +1 more)	Myofibrillar myopathy 4 +3 more	GBenign/Likely benign
Select item 222686	NM_007078.3(LDB3):c.494G>A (p.Arg165Gln)	LDB3 (R165Q)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 201860	NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr)	LDB3, LOC110121486 (P124T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 201856	NM_007078.3(LDB3):c.54G>T (p.Gln18His)	LDB3 (Q18H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +4 more	GUncertain significance
Select item 201850	NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala)	LDB3 (P523A +4 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1C +3 more	GConflicting classifications of pathogenicity
Select item 201849	NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser)	LDB3 (F496S +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 201844	NM_007078.3(LDB3):c.955G>A (p.Ala319Thr)	LDB3 (A319T +1 more)	Single nucleotide variant (genic downstream transcript variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 201843	NM_007078.3(LDB3):c.794G>A (p.Arg265His)	LDB3 (R218H +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 201841	NM_007078.3(LDB3):c.1231+19G>A	LDB3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 201835	NM_007078.3(LDB3):c.328G>A (p.Ala110Thr)	LDB3 (A110T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 191695	NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)	LDB3 (R148Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 179553	NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)	LDB3 (E592Q +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +4 more	GUncertain significance
Select item 179019	NM_001368067.1(LDB3):c.456G>A (p.Ala152=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 177883	NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr)	LDB3 (S349T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1C +4 more	GLikely benign
Select item 163853	NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)	LDB3 (R600* +4 more)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 163852	NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)	LDB3 (Y597H +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance

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