C0007193[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14504	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA, LOC126805877 (E161K +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GPathogenic/Likely pathogenic
Select item 48070	NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	LMNA (E203K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 66762	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA (R349W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +14 more	GConflicting classifications of pathogenicity
Select item 684560	NM_001103.4(ACTN2):c.431A>T (p.Gln144Leu)	ACTN2 (Q144L)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	Gnot provided
Select item 180497	NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	RYR2 (E2715D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 178157	NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)	TTN-AS1, TTN (R31523W +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 202495	NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)	TTN-AS1, TTN (E23411fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 165813	NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)	TTN, TTN-AS1 (I24333V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +10 more	GConflicting classifications of pathogenicity
Select item 130666	NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)	TTN (V13520L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 47184	NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)	TTN (A1827S +1 more)	Single nucleotide variant (missense variant)	Heart failure +9 more	GConflicting classifications of pathogenicity
Select item 440929	NM_000335.5(SCN5A):c.1076C>A (p.Ala359Asp)	SCN5A (A359D)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	Gnot provided
Select item 201953	NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn)	PDLIM3 (D239N +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 45628	NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)	ANKRD1 (R66Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 8603	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Duplication (inframe_insertion)	Cardiovascular phenotype +6 more	GPathogenic
Select item 42719	NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)	MYBPC3 (E1179K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +7 more	GConflicting classifications of pathogenicity
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 1339933	NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala)	COMT, TXNRD2 (G10A)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance