"Ambry Genetics"[submitter] AND "TRIM32"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 851419	NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)	TRIM32, ASTN2 (R33C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2221487	NM_012210.4(TRIM32):c.138G>C (p.Gln46His)	TRIM32, ASTN2 (Q46H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279890	NM_012210.4(TRIM32):c.286G>A (p.Gly96Arg)	TRIM32, ASTN2 (G96R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1394492	NM_012210.4(TRIM32):c.326G>A (p.Arg109Gln)	ASTN2, TRIM32 (R109Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2531647	NM_012210.4(TRIM32):c.330A>T (p.Gln110His)	ASTN2, TRIM32 (Q110H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2143757	NM_012210.4(TRIM32):c.410C>T (p.Pro137Leu)	ASTN2, TRIM32 (P137L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 645718	NM_012210.4(TRIM32):c.479T>C (p.Met160Thr)	ASTN2, TRIM32 (M160T)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 288658	NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)	ASTN2, TRIM32 (S174F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1500507	NM_012210.4(TRIM32):c.809C>G (p.Pro270Arg)	ASTN2, TRIM32 (P270R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 378760	NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp)	ASTN2, TRIM32 (R271W)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 2310424	NM_012210.4(TRIM32):c.917C>G (p.Ser306Cys)	ASTN2, TRIM32 (S306C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 452197	NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)	ASTN2, TRIM32 (A338T)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 2611837	NM_012210.4(TRIM32):c.1222C>G (p.Arg408Gly)	ASTN2, TRIM32 (R408G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 411138	NM_012210.4(TRIM32):c.1384G>A (p.Val462Met)	ASTN2, TRIM32 (V462M)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +3 more	GUncertain significance
Select item 2484602	NM_012210.4(TRIM32):c.1523G>A (p.Ser508Asn)	ASTN2, TRIM32 (S508N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 288854	NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)	ASTN2, TRIM32 (F550L)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GUncertain significance
Select item 2235816	NM_012210.4(TRIM32):c.1685G>A (p.Gly562Asp)	ASTN2, TRIM32 (G562D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 954278	NM_012210.4(TRIM32):c.1709C>T (p.Ser570Leu)	ASTN2, TRIM32 (S570L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1987006	NM_012210.4(TRIM32):c.1757G>C (p.Arg586Pro)	TRIM32, ASTN2 (R586P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 450273	NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly)	TRIM32, ASTN2 (S644G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 20