ClinVar for MedGen (Select 56236) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691691	NM_001267550.2(TTN):c.58160C>G (p.Thr19387Arg)	TTN, TTN-AS1 (T10447R +5 more)	Single nucleotide variant (missense variant)	Premature ventricular contraction	GUncertain significance
Select item 561900	NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser)	PTPN11 (T566S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 239790	NM_004281.4(BAG3):c.616A>C (p.Ile206Leu)	BAG3 (I206L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +6 more	GConflicting classifications of pathogenicity
Select item 180537	NM_003239.5(TGFB3):c.*513A>G	TGFB3	Single nucleotide variant (3 prime UTR variant)	Collapse (finding) +1 more	GUncertain significance
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Noncompaction cardiomyopathy +12 more	GPathogenic/Likely pathogenic
Select item 47915	NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)	NEXN (E332A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign
Select item 47368	NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)	TTN, TTN-AS1 (G26298R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 47302	NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)	TTN, TTN-AS1 (I23902T +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +10 more	GConflicting classifications of pathogenicity
Select item 45033	NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	PKP2 (T526M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 44373	NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)	LAMA4 (V1052M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 42813	NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)	MYBPC3 (R326Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 31766	NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	MYL2 (N47K)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +7 more	GUncertain significance