ClinVar for MedGen (Select 21443) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977176	NM_000335.5(SCN5A):c.5150G>A (p.Ser1717Asn)	SCN5A (S1664N +5 more)	Single nucleotide variant (missense variant)	Syncope +1 more	GUncertain significance
Select item 870076	NM_004415.4(DSP):c.1388T>C (p.Leu463Pro)	DSP (L463P)	Single nucleotide variant (missense variant)	Ventricular tachycardia +4 more	GUncertain significance
Select item 689574	NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys)	RYR2 (E676K)	Single nucleotide variant (missense variant)	Syncope +1 more	GUncertain significance
Select item 549661	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	ACTL6A (R377W +1 more)	Single nucleotide variant (missense variant)	ACTL6A-related BAFopathy +15 more	GConflicting classifications of pathogenicity
Select item 424786	NM_000243.2(MEFV):c.[2084A>G];[2230G>T]			Familial Mediterranean fever	GLikely pathogenic
Select item 374130	NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter)	SCN5A (Q419*)	Single nucleotide variant (nonsense)	Syncope	GLikely pathogenic
Select item 178985	NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)	ACTN2 (T347M +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47753	NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)	TTN (K4455R)	Single nucleotide variant (intron variant +1 more)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +8 more	GConflicting classifications of pathogenicity
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +9 more	GConflicting classifications of pathogenicity