"Ambry Genetics"[submitter] AND "TRIM63"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328877	NM_032588.4(TRIM63):c.1013A>C (p.Asp338Ala)	TRIM63 (D338A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514548	NM_032588.4(TRIM63):c.965T>C (p.Ile322Thr)	TRIM63 (I322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328880	NM_032588.4(TRIM63):c.962C>T (p.Ala321Val)	TRIM63 (A321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328879	NM_032588.4(TRIM63):c.961G>A (p.Ala321Thr)	TRIM63 (A321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328875	NM_032588.4(TRIM63):c.900G>C (p.Gln300His)	TRIM63 (Q300H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182660	NM_032588.4(TRIM63):c.857T>C (p.Ile286Thr)	TRIM63 (I286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328881	NM_032588.4(TRIM63):c.785C>T (p.Thr262Ile)	TRIM63 (T262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 222849	NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	TRIM63 (Q247*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3328873	NM_032588.4(TRIM63):c.731C>T (p.Ala244Val)	TRIM63 (A244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247024	NM_032588.4(TRIM63):c.688C>T (p.Arg230Trp)	TRIM63 (R230W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182659	NM_032588.4(TRIM63):c.680T>C (p.Leu227Ser)	TRIM63 (L227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480133	NM_032588.4(TRIM63):c.589G>T (p.Val197Leu)	TRIM63 (V197L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220462	NM_032588.4(TRIM63):c.587G>A (p.Arg196Gln)	TRIM63 (R196Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404017	NM_032588.4(TRIM63):c.568C>A (p.Gln190Lys)	TRIM63 (Q190K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472598	NM_032588.4(TRIM63):c.551T>G (p.Val184Gly)	TRIM63 (V184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544614	NM_032588.4(TRIM63):c.548G>A (p.Arg183His)	TRIM63 (R183H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295336	NM_032588.4(TRIM63):c.532G>C (p.Val178Leu)	TRIM63 (V178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985254	NM_032588.4(TRIM63):c.481_482del (p.Ser161fs)	TRIM63 (S161fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 3328874	NM_032588.4(TRIM63):c.453C>G (p.His151Gln)	TRIM63 (H151Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543451	NM_032588.4(TRIM63):c.407C>T (p.Thr136Met)	TRIM63 (T136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328876	NM_032588.4(TRIM63):c.404T>C (p.Leu135Pro)	TRIM63 (L135P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543560	NM_032588.4(TRIM63):c.376G>A (p.Glu126Lys)	TRIM63 (E126K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182657	NM_032588.4(TRIM63):c.357C>A (p.His119Gln)	TRIM63 (H119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353439	NM_032588.4(TRIM63):c.338C>T (p.Pro113Leu)	TRIM63 (P113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3328878	NM_032588.4(TRIM63):c.304A>T (p.Ile102Phe)	TRIM63 (I102F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594636	NM_032588.4(TRIM63):c.251T>G (p.Met84Arg)	TRIM63 (M84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377175	NM_032588.4(TRIM63):c.235C>T (p.Arg79Cys)	TRIM63 (R79C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3182656	NM_032588.4(TRIM63):c.229A>G (p.Thr77Ala)	TRIM63 (T77A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526644	NM_032588.4(TRIM63):c.221G>A (p.Arg74His)	TRIM63 (R74H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2220588	NM_032588.4(TRIM63):c.185G>A (p.Arg62Gln)	TRIM63 (R62Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2405233	NM_032588.4(TRIM63):c.184C>T (p.Arg62Trp)	TRIM63 (R62W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368766	NM_032588.4(TRIM63):c.149A>G (p.Asp50Gly)	TRIM63 (D50G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474892	NM_032588.4(TRIM63):c.148G>T (p.Asp50Tyr)	TRIM63 (D50Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182655	NM_032588.4(TRIM63):c.140G>A (p.Cys47Tyr)	TRIM63 (C47Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182654	NM_032588.4(TRIM63):c.113C>T (p.Pro38Leu)	TRIM63 (P38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182661	NM_032588.4(TRIM63):c.97C>G (p.Pro33Ala)	TRIM63 (P33A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182658	NM_032588.4(TRIM63):c.41T>C (p.Met14Thr)	TRIM63 (M14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 37