"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229188	NM_001134363.3(RBM20):c.-16G>T	RBM20	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 43962	NM_001134363.3(RBM20):c.-6C>T	RBM20	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 179289	NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg)	RBM20 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44029	NM_001134363.3(RBM20):c.90G>A (p.Arg30=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
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 165021	NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)	RBM20 (P44Q)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 505314	NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)	RBM20 (P46S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 43974	NM_001134363.3(RBM20):c.150A>T (p.Pro50=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 165022	NM_001134363.3(RBM20):c.280C>T (p.Leu94=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44002	NM_001134363.3(RBM20):c.313C>T (p.Leu105=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 416819	NM_001134363.3(RBM20):c.348C>T (p.Ala116=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +4 more	GLikely benign
Select item 179531	NM_001134363.3(RBM20):c.363C>T (p.Asn121=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 178978	NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)	RBM20 (Q122K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227894	NM_001134363.3(RBM20):c.409C>T (p.Leu137=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +1 more	GLikely benign
Select item 227895	NM_001134363.3(RBM20):c.441C>T (p.His147=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 44017	NM_001134363.3(RBM20):c.441C>A (p.His147Gln)	RBM20 (H147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44018	NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)	RBM20 (A150T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44019	NM_001134363.3(RBM20):c.465T>C (p.His155=)	RBM20	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 44020	NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)	RBM20 (P173T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 44021	NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)	RBM20 (T177S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
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 179552	NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp)	RBM20 (G179D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 44022	NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)	RBM20 (P182T)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 227896	NM_001134363.3(RBM20):c.600T>G (p.Thr200=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 178111	NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)	RBM20 (G227V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +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)	Dilated cardiomyopathy 1DD +4 more	GBenign/Likely benign
Select item 44026	NM_001134363.3(RBM20):c.746G>T (p.Gly249Val)	RBM20 (G249V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 411654	NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)	RBM20 (S258L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 179494	NM_001134363.3(RBM20):c.774G>A (p.Ser258=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 44027	NM_001134363.3(RBM20):c.831C>G (p.Ala277=)	RBM20	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 179028	NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44028	NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)	RBM20 (G284R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44030	NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)	RBM20 (G309R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 227897	NM_001134363.3(RBM20):c.954A>G (p.Gln318=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 229181	NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)	RBM20 (M338T)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 229182	NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr)	RBM20 (P342T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43963	NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)	RBM20 (H343Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 179351	NM_001134363.3(RBM20):c.1051G>C (p.Asp351His)	RBM20 (D351H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 43964	NM_001134363.3(RBM20):c.1056C>G (p.Pro352=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +2 more	GLikely benign
Select item 43965	NM_001134363.3(RBM20):c.1080A>T (p.Thr360=)	RBM20	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 178877	NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)	RBM20 (G365R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43966	NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 179984	NM_001134363.3(RBM20):c.1190A>C (p.His397Pro)	RBM20 (H397P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43967	NM_001134363.3(RBM20):c.1209C>T (p.His403=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 180043	NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)	RBM20 (K420R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 179248	NM_001134363.3(RBM20):c.1266T>C (p.Phe422=)	RBM20	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 180056	NM_001134363.3(RBM20):c.1275+8G>T	RBM20	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
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)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 229183	NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu)	RBM20 (F443L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 180076	NM_001134363.3(RBM20):c.1338-11G>A	RBM20	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 43971	NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)	RBM20 (S455L)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 165037	NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val)	RBM20 (A473V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43972	NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 43973	NM_001134363.3(RBM20):c.1459G>A (p.Val487Met)	RBM20 (V487M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 229184	NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)	RBM20 (S498R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 179741	NM_001134363.3(RBM20):c.1497C>T (p.Pro499=)	RBM20	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 667317	NM_001134363.3(RBM20):c.1516G>A (p.Val506Met)	RBM20 (V506M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165035	NM_001134363.3(RBM20):c.1519G>A (p.Gly507Arg)	RBM20 (G507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43975	NM_001134363.3(RBM20):c.1527+8C>T	RBM20	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 229186	NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)	RBM20 (F510S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 229187	NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln)	RBM20 (R513Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198123	NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 227891	NM_001134363.3(RBM20):c.1612C>T (p.Leu538=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +1 more	GLikely benign
Select item 43976	NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)	RBM20 (V545I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 667318	NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu)	RBM20 (S553L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 179370	NM_001134363.3(RBM20):c.1761C>T (p.Leu587=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 229189	NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys)	RBM20 (M590K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 229185	NM_001134363.3(RBM20):c.1779A>T (p.Arg593Ser)	RBM20 (R593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43977	NM_001134363.3(RBM20):c.1801-11G>C	RBM20	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 227892	NM_001134363.3(RBM20):c.1812G>A (p.Lys604=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 179707	NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)	RBM20 (V606M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43978	NM_001134363.3(RBM20):c.1880+4_1880+6dup	RBM20	Duplication (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43979	NM_001134363.3(RBM20):c.1881-3C>T	RBM20	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 43980	NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)	RBM20 (R636C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 270	NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)	RBM20 (R636S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 271	NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)	RBM20 (R636H)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 268	NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)	RBM20 (P638L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 43981	NM_001134363.3(RBM20):c.1914G>A (p.Pro638=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +4 more	GBenign/Likely benign
Select item 180045	NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)	RBM20 (T653I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43982	NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys)	RBM20 (S658C)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 138900	NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)	RBM20	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43983	NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 929886	NM_001134363.3(RBM20):c.2001T>C (p.Ala667=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 43984	NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp)	RBM20 (R673W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 506268	NM_001134363.3(RBM20):c.2070G>A (p.Pro690=)	RBM20	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1DD +1 more	GLikely benign
Select item 43985	NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys)	RBM20 (R703K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 202046	NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)	RBM20 (P706T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43986	NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)	RBM20 (R716Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 229190	NM_001134363.3(RBM20):c.2161G>T (p.Ala721Ser)	RBM20 (A721S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 229191	NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del)	RBM20 (E728del)	Deletion (inframe_deletion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 178112	NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln)	RBM20 (R734Q)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 43987	NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)	RBM20 (P738L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 165040	NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)	RBM20	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 229192	NM_001134363.3(RBM20):c.2286dup (p.Glu763fs)	RBM20 (E763fs)	Duplication	not specified	GUncertain significance
Select item 138901	NM_001134363.3(RBM20):c.2303= (p.Ser768=)	RBM20	Single nucleotide variant (no sequence alteration)	Cardiovascular phenotype +4 more	GBenign
Select item 43988	NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu)	RBM20 (S768L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 199060	NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)	RBM20 (K773R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 43989	NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)	RBM20 (A778V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity

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