"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43970	NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)	RBM20	Microsatellite (inframe_insertion)	Dilated Cardiomyopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 43974	NM_001134363.3(RBM20):c.150A>T (p.Pro50=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1088805	NM_001134363.3(RBM20):c.219A>G (p.Pro73=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 202052	NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)	RBM20 (S75L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 416819	NM_001134363.3(RBM20):c.348C>T (p.Ala116=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 411661	NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)	RBM20 (G148S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 44018	NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)	RBM20 (A150T)	Single nucleotide variant (missense variant)	Familial dilated cardiomyopathy and peripheral neuropathy +6 more	GConflicting classifications of pathogenicity
Select item 44020	NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)	RBM20 (P173T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 44024	NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)	RBM20 (T177I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44023	NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg)	RBM20 (T177R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1534657	NM_001134363.3(RBM20):c.532C>A (p.Arg178=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +1 more	GLikely benign
Select item 961990	NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln)	RBM20 (R178Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 373358	NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)	RBM20 (G181R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 519092	NM_001134363.3(RBM20):c.567G>T (p.Gln189His)	RBM20 (Q189H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1051356	NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)	RBM20 (A226T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 178111	NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)	RBM20 (G227V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44025	NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)	RBM20 (G232D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 411656	NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)	RBM20 (S254L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 44028	NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)	RBM20 (G284R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 538049	NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=)	RBM20	Single nucleotide variant (synonymous variant)	RBM20-related condition +4 more	GLikely benign
Select item 416824	NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity
Select item 43966	NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43968	NM_001134363.3(RBM20):c.1275+13A>G	RBM20	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 43969	NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)	RBM20 (L429P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2577345	NM_001134363.3(RBM20):c.1338-9C>G	RBM20	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 43971	NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)	RBM20 (S455L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 378472	NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 202043	NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile)	RBM20 (T484I)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 517019	NM_001134363.3(RBM20):c.1528-16T>C	RBM20	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 202057	NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)	RBM20 (R518C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 43978	NM_001134363.3(RBM20):c.1880+4_1880+6dup	RBM20	Duplication (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43979	NM_001134363.3(RBM20):c.1881-3C>T	RBM20	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 470592	NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1586809	NM_001134363.3(RBM20):c.1900C>A (p.Arg634=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 271	NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)	RBM20 (R636H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 43981	NM_001134363.3(RBM20):c.1914G>A (p.Pro638=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 538044	NM_001134363.3(RBM20):c.1935G>A (p.Pro645=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 2573457	NM_001134363.3(RBM20):c.1961C>T (p.Ser654Phe)	RBM20 (S654F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 138900	NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)	RBM20	Single nucleotide variant (synonymous variant)	RBM20-related condition +4 more	GConflicting classifications of pathogenicity
Select item 43983	NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1785401	NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)	RBM20 (A691T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1098829	NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser)	RBM20 (N696S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 43986	NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)	RBM20 (R716Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 238547	NM_001134363.3(RBM20):c.2303C>G (p.Ser768Trp)	RBM20 (S768W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GBenign
Select item 43988	NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu)	RBM20 (S768L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 199060	NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)	RBM20 (K773R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 388483	NM_001134363.3(RBM20):c.2358C>T (p.Asp786=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 180481	NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)	RBM20 (P798L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 43990	NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)	RBM20 (A818S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 202048	NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys)	RBM20 (N849K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 43992	NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)	RBM20	Deletion	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43993	NM_001134363.3(RBM20):c.2655+15A>G	RBM20	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43995	NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	RBM20 (D888N)	Single nucleotide variant (missense variant)	Cardiac arrest +8 more	GConflicting classifications of pathogenicity
Select item 1339672	NM_001134363.3(RBM20):c.2687del (p.Glu896fs)	RBM20 (E896fs)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 43999	NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)	RBM20 (I921V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 470606	NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)	RBM20 (V969I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 654208	NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)	RBM20 (V997M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44003	NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 2581389	NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu)	RBM20 (P1081L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44006	NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)	RBM20 (P1089A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 928906	NM_001134363.3(RBM20):c.3317-21_3317-20delinsTT	RBM20	Indel (intron variant)	not specified	GBenign
Select item 202051	NM_001134363.3(RBM20):c.3317-20C>T	RBM20	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 411648	NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met)	RBM20 (V1111M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 44009	NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)	RBM20 (E1125K)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 44011	NM_001134363.3(RBM20):c.3452-10C>T	RBM20	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 180484	NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)	RBM20 (R1182H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 917715	NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe)	RBM20 (S1195F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 194356	NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)	RBM20 (S1195Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 418455	NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)	RBM20 (E1206K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 264328	NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +3 more	GConflicting classifications of pathogenicity

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Items: 70