"Ambry Genetics"[submitter] AND "TRIM31-AS1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320983	NM_007028.5(TRIM31):c.805C>T (p.Pro269Ser)	TRIM31-AS1, TRIM31 (P269S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378827	NM_007028.5(TRIM31):c.769A>G (p.Ser257Gly)	TRIM31, TRIM31-AS1 (S257G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508450	NM_007028.5(TRIM31):c.757G>A (p.Val253Ile)	TRIM31, TRIM31-AS1 (V253I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340517	NM_007028.5(TRIM31):c.631A>G (p.Thr211Ala)	TRIM31, TRIM31-AS1 (T211A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 782821	NM_007028.5(TRIM31):c.559C>T (p.Leu187Phe)	TRIM31, TRIM31-AS1 (L187F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 782822	NM_007028.5(TRIM31):c.525A>C (p.Glu175Asp)	TRIM31, TRIM31-AS1 (E175D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2396563	NM_007028.5(TRIM31):c.446T>C (p.Leu149Ser)	TRIM31, TRIM31-AS1 (L149S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474954	NM_007028.5(TRIM31):c.443T>C (p.Val148Ala)	TRIM31, TRIM31-AS1 (V148A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375050	NM_007028.5(TRIM31):c.328G>A (p.Gly110Arg)	TRIM31, TRIM31-AS1 (G110R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232768	NM_007028.5(TRIM31):c.298G>A (p.Glu100Lys)	TRIM31, TRIM31-AS1 (E100K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352941	NM_007028.5(TRIM31):c.276G>C (p.Glu92Asp)	TRIM31, TRIM31-AS1 (E92D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370744	NM_007028.5(TRIM31):c.260A>G (p.Gln87Arg)	LOC126859641, TRIM31 +1 more (Q87R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782823	NM_007028.5(TRIM31):c.15G>T (p.Gln5His)	LOC126859641, TRIM31 +1 more (Q5H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity