"Ambry Genetics"[submitter] AND "SEC61A1"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3159381	NM_013336.4(SEC61A1):c.170A>T (p.Asp57Val)	SEC61A1 (D57V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545425	NM_013336.4(SEC61A1):c.314C>A (p.Thr105Asn)	SEC61A1 (T105N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1395846	NM_013336.4(SEC61A1):c.654T>A (p.His218Gln)	RUVBL1, SEC61A1 (H218Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3159382	NM_013336.4(SEC61A1):c.736A>C (p.Ile246Leu)	RUVBL1, SEC61A1 (I246L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3159383	NM_013336.4(SEC61A1):c.785G>A (p.Arg262Gln)	RUVBL1, SEC61A1 (R262Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396398	NM_013336.4(SEC61A1):c.811C>T (p.Arg271Cys)	RUVBL1, SEC61A1 (R218C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609365	NM_013336.4(SEC61A1):c.970T>C (p.Trp324Arg)	RUVBL1, SEC61A1 (W271R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3159384	NM_013336.4(SEC61A1):c.977A>G (p.Asp326Gly)	RUVBL1, SEC61A1 (D332G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3159380	NM_013336.4(SEC61A1):c.1060G>A (p.Val354Met)	RUVBL1, SEC61A1 (V301M +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1519793	NM_013336.4(SEC61A1):c.1075G>C (p.Val359Leu)	RUVBL1, SEC61A1 (V359L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2887786	NM_013336.4(SEC61A1):c.1218G>T (p.Glu406Asp)	RUVBL1, SEC61A1 (E412D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3032511	NM_013336.4(SEC61A1):c.1336G>A (p.Gly446Arg)	RUVBL1, SEC61A1 (G393R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2042196	NM_013336.4(SEC61A1):c.1402G>A (p.Val468Ile)	RUVBL1, SEC61A1 (V415I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance