C0878544[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179003	NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)	NEXN (R196C +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GUncertain significance
Select item 47887	NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)	NEXN (P371L +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal semi-dominant severe lipodystrophic laminopathy +24 more	GConflicting classifications of pathogenicity
Select item 14485	NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)	LMNA (R571S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 18313	NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	ACTN2 (Q9R)	Single nucleotide variant (missense variant +1 more)	Intrinsic cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 451310	NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	RYR2 (M317T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 201214	NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	RYR2 (R420W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 201411	NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)	LOC126806068, RYR2 (K4223del)	Deletion (inframe_deletion)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GConflicting classifications of pathogenicity
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GBenign/Likely benign
Select item 47633	NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)	TTN, TTN-AS1 (R33738C +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 625156	NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)	TTN, TTN-AS1 (R33703* +5 more)	Single nucleotide variant (nonsense)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GPathogenic/Likely pathogenic
Select item 47520	NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	TTN, TTN-AS1 (P30726S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +14 more	GConflicting classifications of pathogenicity
Select item 47501	NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)	TTN, TTN-AS1 (C30276G +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 47464	NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)	TTN, TTN-AS1 (P29138T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 47308	NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 47265	NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)	TTN, TTN-AS1 (P23044S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +13 more	GConflicting classifications of pathogenicity
Select item 47138	NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)	TTN, TTN-AS1 (I19562V +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +6 more	GUncertain significance
Select item 46599	NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	TTN (V5060L +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GConflicting classifications of pathogenicity
Select item 46579	NM_001267550.2(TTN):c.10114+5G>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 47256	NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	TTN (R1998H +1 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 46597	NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity
Select item 44265	NM_001927.4(DES):c.638C>T (p.Ala213Val)	DES (A213V)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 44244	NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	DES (R350W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GPathogenic/Likely pathogenic
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 923336	NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)	TMEM43 (L248M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 44980	NM_004415.4(DSP):c.889G>A (p.Asp297Asn)	DSP (D297N)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 177781	NM_004415.4(DSP):c.2723G>A (p.Arg908His)	DSP (R908H)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1326970	NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)	DSP (S1807* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GPathogenic/Likely pathogenic
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 432231	NM_001458.5(FLNC):c.970-4A>G	FLNC	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 26 +8 more	GConflicting classifications of pathogenicity
Select item 1479172	NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)	FLNC (R490C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GUncertain significance
Select item 166551	NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)	VCL (L682F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 4727	NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)	LDB3, LOC110121486 (A147T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 43971	NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)	RBM20 (S455L)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 43998	NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)	RBM20 (E913K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 8776	NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)	CSRP3 (W4R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 177832	NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)	MYBPC3 (R970Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 918284	NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)	MYBPC3 (G903D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +3 more	GUncertain significance
Select item 42620	NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)	MYBPC3 (R810H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42585	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +7 more	GPathogenic
Select item 42513	NM_000256.3(MYBPC3):c.1227-13G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 188544	NM_000256.3(MYBPC3):c.1224-52G>A	MYBPC3	Single nucleotide variant (intron variant)	Left ventricular noncompaction 10 +5 more	GPathogenic/Likely pathogenic
Select item 217839	NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)	MYBPC3 (G5W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 191427	NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)	CACNA1C-AS1, CACNA1C (G1911R +13 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 45047	NM_001005242.3(PKP2):c.1689dup (p.Val564fs)	PKP2 (V608fs +1 more)	Duplication (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GPathogenic/Likely pathogenic
Select item 45028	NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	PKP2 (T50fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GPathogenic
Select item 14065	NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	LOC114827850, MYL2 (E22K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 665927	NM_000257.4(MYH7):c.5294T>A (p.Met1765Lys)	LOC126861897, MYH7 (M1765K)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 43052	NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)	LOC126861897, MHRT +1 more (V1674M)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 42938	NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)	MYH7 (V964L)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +10 more	GConflicting classifications of pathogenicity
Select item 235031	NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)	LOC126861898, MYH7 (R870L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GLikely pathogenic
Select item 43098	NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	MYH7 (R237W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1806336	NM_000257.4(MYH7):c.595G>A (p.Ala199Thr)	MYH7 (A199T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GLikely pathogenic
Select item 12456	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1 (D175N +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +6 more	GBenign/Likely benign
Select item 1052902	NM_004006.3(DMD):c.7993A>G (p.Asn2665Asp)	DMD (N1321D +6 more)	Single nucleotide variant (missense variant)	Progressive muscular dystrophy +1 more	GUncertain significance
Select item 10748	NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	GLA, RPL36A-HNRNPH2 (A143T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +5 more	GConflicting classifications of pathogenicity

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Items: 59