ClinVar for MedGen (Select 450531) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663504	NM_001077653.2(TBX20):c.545+5G>A	TBX20	Single nucleotide variant (intron variant)	Left ventricular noncompaction +1 more	GUncertain significance
Select item 1805854	NM_001276345.2(TNNT2):c.571A>G (p.Met191Val)	TNNT2 (M151V +4 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction	GUncertain significance
Select item 684854	NM_000257.4(MYH7):c.803T>G (p.Leu268Arg)	MYH7 (L268R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction	GUncertain significance
Select item 684846	NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys)	PKP2 (N626K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 642389	NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)	DSP (L965P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction +2 more	GUncertain significance
Select item 637005	NM_000257.4(MYH7):c.1000-1G>A	MYH7	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 520516	NM_014391.3(ANKRD1):c.806G>A (p.Arg269Gln)	ANKRD1 (R269Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction +2 more	GUncertain significance
Select item 511503	NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 488158	NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)	RYR2 (G4471A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 470523	NM_002471.4(MYH6):c.3413G>A (p.Arg1138His)	MYH6 (R1138H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 468745	NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)	JUP (G503S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 454395	NM_000257.4(MYH7):c.732+2T>G	MYH7	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GPathogenic
Select item 446166	NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter)	TAFAZZIN (Y227* +4 more)	Duplication (nonsense +1 more)	Left ventricular noncompaction	GUncertain significance
Select item 407331	NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=)	MYBPC3	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction +1 more	GConflicting classifications of pathogenicity
Select item 403313	NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)	PKP2 (D812N +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 208634	GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	Cardiomyopathy +2 more	GPathogenic
Select item 208633	NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	MIPEP (H512D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity
Select item 208632	NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)	MIPEP (K343E)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 208631	NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)	MIPEP (E602*)	Single nucleotide variant (nonsense)	Cardiomyopathy +2 more	GPathogenic
Select item 208630	NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)	MIPEP (L306F)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 208629	NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)	MIPEP (L71Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 208628	NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)	MIPEP (L582R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 192131	NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)	TGFB3 (S98L)	Single nucleotide variant (missense variant)	TGFB3-related condition +8 more	GConflicting classifications of pathogenicity
Select item 181327	NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)	MYH7 (R281T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 179201	NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)	MYH7 (L1386F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 179009	NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)	BAG3 (R218Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 178849	NM_002230.4(JUP):c.2105G>A (p.Arg702His)	JUP (R702H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 178148	NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)	TPM1 (K266R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 177902	NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)	MYBPC3 (E334K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 177832	NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)	MYBPC3 (R970Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 177698	NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)	MYBPC3	Duplication	Hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 165128	NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)	RYR2 (E4431K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 164378	NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)	MYH7 (Y386C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 164299	NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)	MYH7 (R1250W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 164021	NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	MYBPC3	Deletion	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 137542	NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)	HCN4 (P883R)	Single nucleotide variant (missense variant)	Atrial fibrillation +9 more	GBenign/Likely benign
Select item 48045	NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)	LMNA (G523R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 45190	NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)	ACTC1, GJD2-DT (I269T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction +5 more	GConflicting classifications of pathogenicity
Select item 44482	NM_002471.4(MYH6):c.3383G>A (p.Arg1128His)	MYH6 (R1128H)	Single nucleotide variant (missense variant)	MYH6-related condition +9 more	GUncertain significance
Select item 43646	NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)	TNNT2 (R159* +3 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 42968	NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)	MYH7 (E1220del)	Deletion (inframe_deletion)	Ebstein anomaly	GUncertain significance FDA Recognized database
Select item 42941	NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)	MYH7 (M982T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42822	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	MYH7 (R369Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42711	NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)	MYBPC3 (I1131T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 36473	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA (R335W +2 more)	Single nucleotide variant (missense variant)	LMNA-related condition +20 more	GPathogenic/Likely pathogenic
Select item 14127	NM_000257.4(MYH7):c.732+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic

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Items: 46