C4021133[trait identifier] AND "Klaassen Lab, Charite University Medic - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691817	NM_022114.4(PRDM16):c.1110C>A (p.Asp370Glu)	PRDM16 (D370E)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GUncertain significance
Select item 60725	NM_022114.4(PRDM16):c.1573dup (p.Arg525fs)	PRDM16	Duplication (frameshift variant)	Left ventricular noncompaction cardiomyopathy +1 more	GPathogenic
Select item 1675068	NM_022114.4(PRDM16):c.1627C>T (p.Gln543Ter)	PRDM16 (Q543*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy	GPathogenic
Select item 60724	NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)	PRDM16 (K702*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy	GPathogenic
Select item 1305489	NM_144573.4(NEXN):c.1878dup (p.Asp627fs)	NEXN (D563fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 132943	NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)	TNNT2 (R144W +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +7 more	GConflicting classifications of pathogenicity
Select item 201627	NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)	ACTN2 (R93Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +6 more	GConflicting classifications of pathogenicity
Select item 660714	NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter)	ACTN2 (R192*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 640886	NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)	TTN, TTN-AS1 (R34121* +5 more)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy +3 more	GLikely 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 651090	NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)	TTN, TTN-AS1 (Q21986* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 223314	NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)	TTN, TTN-AS1 (R21201* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +10 more	GPathogenic/Likely pathogenic
Select item 202501	NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	LOC101927055, TTN (M1529fs +1 more)	Microsatellite (frameshift variant +1 more)	Primary dilated cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 503658	NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)	LOC101927055, TTN (R1572* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1675069	NM_002880.4(RAF1):c.806C>T (p.Thr269Ile)	RAF1 (T155I +3 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 650308	NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)	TMEM43 (R393W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GUncertain significance
Select item 199885	NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)	DSP (L1654P)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 691813	NM_004100.5(EYA4):c.971-3T>C	EYA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 691843	NM_007078.3(LDB3):c.778G>A (p.Ala260Thr)	LDB3 (A260T +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 43998	NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)	RBM20 (E913K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 635763	NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)	MYBPC3 (S858R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 180950	NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)	MYBPC3 (T602I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 181047	NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)	MYBPC3 (Y237H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 691832	NM_005188.4(CBL):c.805A>G (p.Met269Val)	CBL (M269V)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 970859	NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)	PKP2	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1338737	NM_001005242.3(PKP2):c.1068_1069dup (p.Val357fs)	PKP2 (V357fs)	Duplication (frameshift variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 14092	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7 (E924K)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 691837	NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp)	MYH7 (A428D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1675067	NM_000257.4(MYH7):c.1048T>A (p.Tyr350Asn)	MYH7 (Y350N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 66081	NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)	MYH7 (Y283D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 691816	NM_000257.4(MYH7):c.475G>A (p.Asp159Asn)	MYH7 (D159N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +1 more	GUncertain significance
Select item 691844	NM_001018005.2(TPM1):c.257C>T (p.Ala86Val)	TPM1 (A86V +2 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1675066	NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)	HCN4 (A485V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1675065	NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu)	HCN4 (G482E)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 691818	NM_001943.5(DSG2):c.2001+3C>G	DSG2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 43382	NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)	TNNI3 (T143N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 650441	NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)	MYLK2 (G142V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +3 more	GConflicting classifications of pathogenicity
Select item 691831	NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)	DNASE1L1, LOC130068869 +1 more (P10R)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2 +2 more	GUncertain significance
Select item 691833	NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met)	TAFAZZIN (V119M +1 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic

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Items: 39