"Ambry Genetics"[submitter] AND "MYOT"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323828	NM_006790.3(MYOT):c.76C>T (p.Pro26Ser)	MYOT, PKD2L2-DT (P26S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 950553	NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)	MYOT, PKD2L2-DT (G78S)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 3298106	NM_006790.3(MYOT):c.254T>C (p.Val85Ala)	MYOT, PKD2L2-DT (V85A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 281070	NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)	MYOT, PKD2L2-DT (N108T)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar Myopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 351023	NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)	MYOT, PKD2L2-DT (A115S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 655808	NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)	MYOT, PKD2L2-DT (A16E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605216	NM_006790.3(MYOT):c.404A>C (p.Gln135Pro)	MYOT, PKD2L2-DT (Q135P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483962	NM_006790.3(MYOT):c.419A>T (p.Lys140Met)	MYOT, PKD2L2-DT (K140M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1056080	NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)	MYOT, PKD2L2-DT (I150T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2246814	NM_006790.3(MYOT):c.484G>A (p.Glu162Lys)	MYOT, PKD2L2-DT (E47K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 960021	NM_006790.3(MYOT):c.524G>A (p.Gly175Glu)	MYOT, PKD2L2-DT (G175E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 2040423	NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)	MYOT, PKD2L2-DT (R178C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 351025	NM_006790.3(MYOT):c.533G>A (p.Arg178His)	MYOT, PKD2L2-DT (R178H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2339269	NM_006790.3(MYOT):c.541T>C (p.Tyr181His)	MYOT, PKD2L2-DT (Y66H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3298108	NM_006790.3(MYOT):c.556G>A (p.Ala186Thr)	MYOT, PKD2L2-DT (A186T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547130	NM_006790.3(MYOT):c.586G>A (p.Ala196Thr)	MYOT, PKD2L2-DT (A196T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169241	NM_006790.3(MYOT):c.639C>A (p.His213Gln)	MYOT, PKD2L2-DT (H213Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262106	NM_006790.3(MYOT):c.931G>C (p.Glu311Gln)	MYOT, PKD2L2-DT (E311Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521779	NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)	MYOT, PKD2L2-DT (T333I +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +2 more	GUncertain significance
Select item 657395	NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)	MYOT, PKD2L2-DT (E203K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 167318	NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)	MYOT, PKD2L2-DT (D286E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3298107	NM_006790.3(MYOT):c.1335C>A (p.Asn445Lys)	MYOT, PKD2L2-DT (N330K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 464366	NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala)	MYOT, PKD2L2-DT (P449A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 583005	NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)	MYOT, PKD2L2-DT (R455Q +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2300633	NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)	MYOT, PKD2L2-DT (F276L +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +2 more	GUncertain significance
Select item 351029	NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)	MYOT, PKD2L2-DT (N467K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +4 more	GUncertain significance
Select item 1382353	NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala)	MYOT, PKD2L2-DT (G355A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 167319	NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)	MYOT, PKD2L2-DT (E296G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3169209	NM_006790.3(MYOT):c.1474C>T (p.Leu492Phe)	MYOT, PKD2L2-DT (L308F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 29