ClinVar for MedGen (Select 9169) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691754	NM_001267550.2(TTN):c.23363C>T (p.Ser7788Phe)	TTN (S7471F +2 more)	Single nucleotide variant (missense variant +1 more)	Congestive heart failure	GLikely benign
Select item 691721	NM_001103.4(ACTN2):c.1727T>C (p.Met576Thr)	ACTN2 (M576T +1 more)	Single nucleotide variant (missense variant)	Congestive heart failure +3 more	GConflicting classifications of pathogenicity
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 505024	NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)	VCL (I497T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +5 more	GUncertain significance
Select item 412788	NM_005477.3(HCN4):c.1243G>A (p.Val415Met)	HCN4 (V415M)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 355443	NM_004100.5(EYA4):c.347C>T (p.Ala116Val)	EYA4 (A116V +1 more)	Single nucleotide variant (missense variant +1 more)	Ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 347321	NM_001148.6(ANK2):c.4123-13T>C	ANK2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 201305	NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)	RYR2 (T3547M)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 191714	NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)	MYH6 (A1330T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 190573	NM_001148.6(ANK2):c.10693G>A (p.Glu3565Lys)	ANK2 (E1471K +43 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 181485	NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)	PRKAG2 (P144L +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 166769	NM_000719.7(CACNA1C):c.3049-10C>T	CACNA1C	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137827	NM_001267550.2(TTN):c.8902+14T>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 47441	NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)	TTN-AS1, TTN (Q28308P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 47265	NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)	TTN, TTN-AS1 (P23044S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +13 more	GConflicting classifications of pathogenicity
Select item 47188	NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)	TTN, TTN-AS1 (T21008I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +10 more	GBenign/Likely benign
Select item 43474	NM_000432.4(MYL2):c.4-14C>T	MYL2, LOC114827850	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 41926	NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)	CRYAB (G154S +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GUncertain significance
Select item 31772	NM_000432.4(MYL2):c.353+20del	MYL2	Deletion (intron variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +4 more	GBenign
Select item 31771	NM_000432.4(MYL2):c.132T>C (p.Ile44=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign

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Items: 21