CN230736[trait identifier] AND "Institute for Genomic Medicine (IGM) C - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43698	NM_001035.3(RYR2):c.10324-4A>G	RYR2	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36696	NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
Select item 255565	NM_000218.3(KCNQ1):c.1033-4C>T	KCNQ1	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 52962	NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)	KCNQ1 (I248fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 35534	NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)	ABCC9 (R1116C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 36681	NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)	PKP2 (V587I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 45033	NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	PKP2 (T526M +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 45081	NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)	PKP2 (S169G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 42956	NM_000257.4(MYH7):c.3337-4dup	MYH7	Duplication	Cardiomyopathy	GBenign FDA Recognized database
Select item 42884	NM_000257.4(MYH7):c.2162+4G>A	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 193172	NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)	ZNF469 (P906L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 224619	NM_000527.5(LDLR):c.941-4G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 190850	NM_001037.5(SCN1B):c.448+321G>A	SCN1B (G257R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign