C3495498[trait identifier] AND "3billion"[submitter] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1426802	NM_033337.3(CAV3):c.330C>A (p.Tyr110Ter)	CAV3, OXTR (Y110*)	Single nucleotide variant (nonsense)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1526128	NM_000257.4(MYH7):c.5279C>G (p.Thr1760Arg)	LOC126861897, MYH7 (T1760R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 42992	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	MYH7 (T1377M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 164294	NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)	MYH7 (E1356K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 177839	NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)	MYH7 (R1344W)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GUncertain significance
Select item 177753	NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	MYH7 (R1045C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 1526259	NM_000257.4(MYH7):c.2891T>A (p.Val964Glu)	MYH7 (V964E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 14092	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7 (E924K)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 181202	NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)	MYH7 (E903K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1329405	NM_000257.4(MYH7):c.2680G>A (p.Glu894Lys)	MYH7 (E894K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 161326	NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	LOC126861898, MYH7 (R870C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 42916	NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)	LOC126861898, MYH7 (M852T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1333470	NM_000257.4(MYH7):c.2510A>G (p.Lys837Arg)	LOC126861898, MYH7 (K837R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 2444095	NM_000257.4(MYH7):c.2491A>G (p.Lys831Glu)	LOC126861898, MYH7 (K831E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +18 more	GPathogenic/Likely pathogenic
Select item 180437	NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	LOC126861898, MYH7 (R783H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 14107	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	MYH7 (R719Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 181357	NM_000257.4(MYH7):c.2012G>A (p.Arg671His)	MYH7 (R671H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 164350	NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	MYH7 (R671C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GPathogenic/Likely pathogenic
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 1333631	NM_000257.4(MYH7):c.1844A>C (p.Lys615Thr)	MYH7 (K615T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 952302	NM_000257.4(MYH7):c.1833G>T (p.Lys611Asn)	MYH7 (K611N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1333294	NM_000257.4(MYH7):c.1548C>A (p.Asp516Glu)	MYH7 (D516E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1333641	NM_000257.4(MYH7):c.1531A>C (p.Ile511Leu)	MYH7 (I511L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 1333564	NM_000257.4(MYH7):c.1426C>T (p.Leu476Phe)	MYH7 (L476F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 1687316	NM_000257.4(MYH7):c.1350G>T (p.Lys450Asn)	MYH7 (K450N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 177897	NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	MYH7 (R442C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 14102	NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	MYH7 (R403W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 407200	NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu)	MYH7 (D394E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 636828	NM_000257.4(MYH7):c.1164G>A (p.Met388Ile)	MYH7 (M388I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1172062	NM_000257.4(MYH7):c.787A>C (p.Ile263Leu)	MYH7 (I263L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 179894	NM_000257.4(MYH7):c.755T>C (p.Phe252Ser)	MYH7 (F252S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GPathogenic/Likely pathogenic
Select item 43100	NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	MYH7 (D239N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 43095	NM_000257.4(MYH7):c.611G>A (p.Arg204His)	MYH7 (R204H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 43006	NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	MYH7 (R143Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 1321247	NM_033118.4(MYLK2):c.1577+1G>A	MYLK2	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance

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Items: 37