CN169374[trait identifier] AND "Center for Human Genetics, University - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242003	NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	LMNA (H506P +2 more)	Single nucleotide variant (missense variant)	not provided +20 more	GUncertain significance
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 43928	NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys)	ACTN2 (R796C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 532370	NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)	RYR2 (T858M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
Select item 619281	NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)	LOC126806068, RYR2 (D4365N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 30381	NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)	SIX3 (G37C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 48309	NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)	SCN5A (R1846H +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 228934	NM_000258.3(MYL3):c.452C>T (p.Ala151Val)	MYL3 (A151V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 31780	NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	MYL3 (A57G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 45781	NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)	MYOZ2 (Q10R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 619278	NM_032578.4(MYPN):c.2189C>G (p.Thr730Arg)	MYPN (T730R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 12198	NM_014000.3(VCL):c.829C>A (p.Leu277Met)	VCL (L277M)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 166551	NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)	VCL (L682F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +7 more	GConflicting classifications of pathogenicity
Select item 201857	NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)	LDB3 (R31W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 427960	NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)	KCNQ1, KCNQ1-AS1 (G502S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 163009	NM_003476.5(CSRP3):c.437G>A (p.Arg146His)	CSRP3 (R146H +1 more)	Single nucleotide variant (missense variant)	Prolonged QT interval +5 more	GUncertain significance
Select item 8778	NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	CSRP3 (L44P)	Single nucleotide variant (missense variant +1 more)	See cases +6 more	GConflicting classifications of pathogenicity
Select item 181102	NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	MYBPC3 (Y1136del)	Microsatellite (inframe_deletion)	Brugada syndrome +8 more	GConflicting classifications of pathogenicity
Select item 42686	NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)	MYBPC3 (R1033Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 427958	NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)	MYBPC3 (S928L)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 177700	NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	MYBPC3 (K814del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 180955	NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)	MYBPC3 (E611K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 42533	NM_000256.3(MYBPC3):c.1458-6G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +5 more	GConflicting classifications of pathogenicity
Select item 42798	NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)	MYBPC3 (G279A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 42775	NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)	MYBPC3 (Q208H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 161313	NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)	MYBPC3 (D75N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 178868	NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)	LOC126861896, MYH6 (R1691H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 164221	NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)	MYH6 (A1443D)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 179023	NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)	MYH6 (D1074N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +7 more	GConflicting classifications of pathogenicity
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 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +11 more	GUncertain significance
Select item 177788	NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	MYH7 (R1382Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 42958	NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)	MYH7 (V1213M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 42959	NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)	MYH7 (A1128T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 42875	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	MYH7 (R663H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181344	NM_000257.4(MYH7):c.1351C>G (p.Gln451Glu)	MYH7 (Q451E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 43443	NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)	TPM1 (D28N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 427955	NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)	TNNI3 (L100F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 228940	NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys)	MYLK2 (R581C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 225897	NM_005120.3(MED12):c.1562G>A (p.Arg521His)	LOC126863275, MED12 (R521H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 39713	NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)	HDAC8 (G320R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 226124	NG_012570.1:g.7766_7770delTAGGTinsAA	TAF9B	Indel (splice donor variant)	not specified	GUncertain significance

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Items: 42