"Ambry Genetics"[submitter] AND "SIRT4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2598469	NM_012240.3(SIRT4):c.206C>T (p.Ser69Leu)	SIRT4 (S69L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257165	NM_012240.3(SIRT4):c.251G>T (p.Arg84Leu)	SIRT4 (R84L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525688	NM_012240.3(SIRT4):c.289C>T (p.Arg97Trp)	SIRT4 (R97W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396540	NM_012240.3(SIRT4):c.305G>A (p.Arg102His)	SIRT4 (R102H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369564	NM_012240.3(SIRT4):c.320C>T (p.Ala107Val)	SIRT4 (A107V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220103	NM_012240.3(SIRT4):c.394G>A (p.Glu132Lys)	SIRT4 (E132K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333715	NM_012240.3(SIRT4):c.403G>A (p.Gly135Arg)	SIRT4 (G135R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209060	NM_012240.3(SIRT4):c.455C>T (p.Ala152Val)	SIRT4 (A152V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455806	NM_012240.3(SIRT4):c.464G>A (p.Arg155Gln)	SIRT4 (R155Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2297415	NM_012240.3(SIRT4):c.491T>A (p.Met164Lys)	SIRT4 (M164K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406995	NM_012240.3(SIRT4):c.524A>C (p.Gln175Pro)	SIRT4 (Q175P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462572	NM_012240.3(SIRT4):c.550C>T (p.Arg184Cys)	SIRT4 (R93C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344534	NM_012240.3(SIRT4):c.619C>G (p.Leu207Val)	SIRT4 (L116V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494989	NM_012240.3(SIRT4):c.690T>G (p.Asp230Glu)	SIRT4 (D139E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520086	NM_012240.3(SIRT4):c.755A>C (p.Glu252Ala)	SIRT4 (E161A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552915	NM_012240.3(SIRT4):c.806A>C (p.Tyr269Ser)	SIRT4 (Y178S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364482	NM_012240.3(SIRT4):c.835A>C (p.Lys279Gln)	SIRT4 (K279Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321123	NM_012240.3(SIRT4):c.863G>C (p.Gly288Ala)	SIRT4 (G197A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226276	NM_012240.3(SIRT4):c.908G>A (p.Arg303His)	SIRT4 (R212H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance