"Ambry Genetics"[submitter] AND "UFD1"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330790	NM_005659.7(UFD1):c.916A>G (p.Lys306Glu)	UFD1, UFD1-AS1 (K306E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2542331	NM_005659.7(UFD1):c.871G>A (p.Val291Ile)	UFD1, UFD1-AS1 (V286I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3186011	NM_005659.7(UFD1):c.790A>C (p.Lys264Gln)	UFD1 (K259Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557987	NM_005659.7(UFD1):c.692C>T (p.Ser231Phe)	UFD1 (S226F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186010	NM_005659.7(UFD1):c.626C>T (p.Ser209Leu)	UFD1 (S204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186009	NM_005659.7(UFD1):c.516G>A (p.Met172Ile)	UFD1 (M167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186008	NM_005659.7(UFD1):c.343G>A (p.Val115Ile)	UFD1 (V115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186006	NM_005659.7(UFD1):c.143T>G (p.Met48Arg)	UFD1 (M48R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186007	NM_005659.7(UFD1):c.32T>C (p.Ile11Thr)	UFD1 (I11T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance