C0007193[trait identifier] AND "Center for Human Genetics, University - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242003	NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	LMNA (H506P +2 more)	Single nucleotide variant (missense variant)	not provided +20 more	GUncertain significance
Select item 66860	NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	LMNA (R541H +2 more)	Single nucleotide variant (missense variant +1 more)	Hutchinson-Gilford syndrome +7 more	GPathogenic/Likely pathogenic
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 813965	NM_001267550.2(TTN):c.101789del (p.Leu33930fs)	TTN, TTN-AS1 (L24865fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GPathogenic/Likely pathogenic
Select item 1068313	NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)	TTN, TTN-AS1 (W24671* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 47599	NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	TTN, TTN-AS1 (R23702fs +4 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 1809794	NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)	TTN, TTN-AS1 (P22537fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 1809793	NM_001267550.2(TTN):c.93974C>A (p.Ser31325Ter)	TTN, TTN-AS1 (S22260* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 223353	NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)	TTN, TTN-AS1 (N28004fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 451748	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN, TTN-AS1 (E28483* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GPathogenic/Likely pathogenic
Select item 1809792	NM_001267550.2(TTN):c.83575_83579del (p.Lys27859fs)	TTN-AS1, TTN (K18794fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809791	NM_001267550.2(TTN):c.81936_81937delinsAT (p.Asp27312_Gly27313delinsGluTer)	TTN, TTN-AS1	Indel (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 405145	NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)	LOC126806422, TTN +1 more (R23351* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 1809790	NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)	TTN, TTN-AS1 (E13848* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809789	NM_001267550.2(TTN):c.67900G>T (p.Gly22634Ter)	LOC126806423, TTN +1 more (G13569* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809788	NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)	TTN, TTN-AS1 (Y13369* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809787	NM_001267550.2(TTN):c.67157_67161dup (p.Asn22388delinsSerTer)	TTN-AS1, TTN	Duplication (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809786	NM_001267550.2(TTN):c.62581_62584dup (p.Leu20862fs)	TTN, TTN-AS1 (L11797fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 223288	NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)	TTN, TTN-AS1 (R20311* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GLikely pathogenic
Select item 1809785	NM_001267550.2(TTN):c.57297del (p.Asp19100fs)	TTN, TTN-AS1 (D10035fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809784	NM_001267550.2(TTN):c.56145dup (p.Leu18716fs)	TTN-AS1, TTN (L16148fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809783	NM_001267550.2(TTN):c.52769G>A (p.Trp17590Ter)	LOC126806425, TTN +1 more (W15022* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1299910	NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs)	TTN, TTN-AS1 (V14877fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 405082	NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)	TTN, TTN-AS1 (R17341* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +3 more	GLikely pathogenic
Select item 202384	NM_001267550.2(TTN):c.51436+1G>A	TTN-AS1, TTN	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1809799	NM_001267550.2(TTN):c.50533del (p.Ser16845fs)	TTN, TTN-AS1 (S14277fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809798	NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)	TTN, TTN-AS1 (Q14255fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 1061173	NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)	TTN, TTN-AS1 (R12967* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 1809797	NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)	TTN (E4215* +4 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 1065191	NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter)	TTN (S4168* +4 more)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GPathogenic
Select item 1333835	NM_001267550.2(TTN):c.13115del (p.Val4372fs)	TTN (V4009fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 1809796	NM_001267550.2(TTN):c.12645del (p.Gln4215fs)	TTN (Q3852fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809795	NM_001267550.2(TTN):c.12057dup (p.Ser4020fs)	TTN (S3657fs +4 more)	Duplication (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 656793	NM_001267550.2(TTN):c.11444del (p.Lys3815fs)	TTN (K3452fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 427976	NM_005751.5(AKAP9):c.2478A>G (p.Ile826Met)	AKAP9 (I826M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1710095	NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)	FLNC, FLNC-AS1 (Q1802* +1 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 427977	NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr)	CACNB2 (A372T +9 more)	Single nucleotide variant (missense variant)	Brugada syndrome 4 +2 more	GUncertain significance
Select item 166551	NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)	VCL (L682F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +7 more	GConflicting classifications of pathogenicity
Select item 201857	NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)	LDB3 (R31W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 427979	NM_004588.5(SCN2B):c.332C>T (p.Ser111Leu)	SCN2B (S111L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 427956	NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)	TMPO (L124F)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 164221	NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)	MYH6 (A1443D)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 14089	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	MYH7 (R453C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181170	NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu)	MYH7 (D376E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 202102	NM_003673.4(TCAP):c.259C>T (p.Arg87Trp)	TCAP (R87W)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 427978	NM_172201.2(KCNE2):c.285G>T (p.Lys95Asn)	KCNE2, LOC105372791 (K95N)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance

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Items: 47