ClinVar for MedGen (Select 57494) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334904	NM_000238.4(KCNH2):c.1128+1G>A	KCNH2	Single nucleotide variant (splice donor variant)	Long QT syndrome	GLikely pathogenic
Select item 992792	NM_000238.4(KCNH2):c.2692+167_3153-109del	KCNH2	Deletion (splice acceptor variant +1 more)	Prolonged QT interval	GLikely pathogenic
Select item 992773	NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu)	KCNQ1, KCNQ1OT1	Microsatellite (inframe_indel +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 972693	NM_005472.5(KCNE3):c.65A>G (p.Asn22Ser)	KCNE3 (N22S)	Single nucleotide variant (missense variant)	Prolonged QT interval	GUncertain significance
Select item 972690	NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys)	KCNE3 (R81C)	Single nucleotide variant (missense variant)	Prolonged QT interval +2 more	GUncertain significance
Select item 560359	NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)	KCNQ1 (L135P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GPathogenic/Likely pathogenic
Select item 427959	NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)	MYH7 (N1824S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 427958	NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)	MYBPC3 (S928L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +7 more	GUncertain significance
Select item 427957	NM_020297.4(ABCC9):c.2878G>C (p.Glu960Gln)	ABCC9 (E960Q +1 more)	Single nucleotide variant (missense variant)	Prolonged QT interval	GUncertain significance
Select item 418944	NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)	LOC110121269, SCN5A (E955fs)	Microsatellite (frameshift variant)	Sudden cardiac death +5 more	GConflicting classifications of pathogenicity
Select item 397510	NM_002471.4(MYH6):c.3397A>C (p.Lys1133Gln)	MYH6 (K1133Q)	Single nucleotide variant (missense variant)	Prolonged QT interval	GUncertain significance
Select item 163009	NM_003476.5(CSRP3):c.437G>A (p.Arg146His)	CSRP3 (R146H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 67223	NM_000238.4(KCNH2):c.160T>C (p.Tyr54His)	KCNH2 (Y54H)	Single nucleotide variant (missense variant)	Prolonged QT interval +2 more	GUncertain significance
Select item 43683	NM_001018005.2(TPM1):c.240+4430G>A	LOC130057222, TPM1 +1 more (G3R)	Single nucleotide variant (non-coding transcript variant +2 more)	Ventricular fibrillation +2 more	GConflicting classifications of pathogenicity
Select item 14420	NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	KCNH2 (A561V +4 more)	Single nucleotide variant (missense variant)	Obesity +7 more	GPathogenic/Likely pathogenic
Select item 3126	NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)	KCNQ1 (R555C +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GPathogenic