C0007193[trait identifier] AND "KTest Genetics, KTest"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 392479	NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)	LMNA (R189Q +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +15 more	GUncertain significance
Select item 43659	NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	TNNT2 (K210del +5 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 43649	NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)	TNNT2 (R173Q +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 223300	NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)	TTN, TTN-AS1 (R30895* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 223371	NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)	TTN, TTN-AS1 (R15898* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GLikely pathogenic
Select item 92660	NM_000232.5(SGCB):c.1A>G (p.Met1Val)	LOC129992585, SGCB	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GPathogenic/Likely pathogenic
Select item 44885	NM_004415.4(DSP):c.2848dup (p.Ile950fs)	DSP (I950fs)	Duplication	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GPathogenic/Likely pathogenic
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_indel +2 more)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1012341	NM_000426.4(LAMA2):c.7525_7528dup (p.Ser2510fs)	LAMA2 (S2506fs +1 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 271	NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)	RBM20 (R636H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 1012346	NM_181486.4(TBX5):c.652C>T (p.Gln218Ter)	TBX5 (Q168* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 2	GPathogenic
Select item 239547	NM_003673.4(TCAP):c.472C>T (p.Arg158Cys)	TCAP (R158C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1012342	NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter)	LAMP2 (Q47*)	Single nucleotide variant (nonsense)	Danon disease	GPathogenic
Select item 1012343	NM_002294.3(LAMP2):c.35_52del (p.Ser12_Val17del)	LAMP2	Deletion (inframe_deletion)	Primary dilated cardiomyopathy	GLikely pathogenic