C2751898[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36739	NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	RYR2 (S756N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 180506	NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys)	RYR2 (Q4879K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46889	NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)	TTN	Microsatellite (inframe_insertion +1 more)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 68024	NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)	SCN5A (P2005A +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 68014	NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)	SCN5A (V1950M +5 more)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +11 more	GConflicting classifications of pathogenicity
Select item 36765	NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	SCN5A (V1950L +5 more)	Single nucleotide variant (missense variant)	not provided +13 more	GBenign/Likely benign
Select item 180518	NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn)	SCN5A (S1933N +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +7 more	GUncertain significance
Select item 201572	NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	SCN5A (F1616del +5 more)	Microsatellite (inframe_deletion)	Brugada syndrome 1 +11 more	GPathogenic/Likely pathogenic
Select item 345115	NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 180516	NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)	SCN5A (R1305H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 9392	NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)	SCN5A (R1193Q +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +13 more	GBenign/Likely benign
Select item 222807	NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)	SCN5A (R800H)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +12 more	GUncertain significance
Select item 48294	NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)	SCN5A (D772N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GUncertain significance
Select item 67712	NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	SCN5A (Q692K)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +11 more	GConflicting classifications of pathogenicity
Select item 67683	NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)	SCN5A (A572D)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +13 more	GBenign/Likely benign
Select item 180512	NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)	SCN5A (R533H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +18 more	GConflicting classifications of pathogenicity
Select item 39444	NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	SCN5A (R222Q)	Single nucleotide variant (missense variant +1 more)	SUDDEN INFANT DEATH SYNDROME +8 more	GPathogenic
Select item 67978	NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)	SCN5A (R18W)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +10 more	GConflicting classifications of pathogenicity
Select item 180339	NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)	DSP (K2271T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 180387	NM_000238.4(KCNH2):c.473-7C>T	KCNH2	Single nucleotide variant (intron variant)	Short QT syndrome type 1 +3 more	GLikely benign
Select item 180585	NM_014000.3(VCL):c.2050A>G (p.Arg684Gly)	VCL (R684G)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1	GUncertain significance
Select item 43992	NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)	RBM20	Deletion	not specified +3 more	GConflicting classifications of pathogenicity
Select item 180483	NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr)	RBM20 (D1023Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 155775	NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C (G402S)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GPathogenic
Select item 180474	NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GBenign/Likely benign
Select item 42956	NM_000257.4(MYH7):c.3337-4dup	MYH7	Duplication	Cardiomyopathy	GBenign FDA Recognized database
Select item 163710	NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)	JUP (N690S)	Single nucleotide variant (missense variant)	Naxos disease +6 more	GConflicting classifications of pathogenicity
Select item 180376	NM_002230.4(JUP):c.1807G>T (p.Val603Leu)	JUP (V603L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 180527	NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)	SNTA1 (R197W)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 155801	NM_020433.5(JPH2):c.723C>G (p.Ser241Arg)	JPH2 (S241R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance

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Items: 30