"Ambry Genetics"[submitter] AND "UBE2Q1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185552	NM_017582.7(UBE2Q1):c.1039G>A (p.Gly347Arg)	UBE2Q1 (G347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330577	NM_017582.7(UBE2Q1):c.1026G>A (p.Gly342=)	UBE2Q1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2327567	NM_017582.7(UBE2Q1):c.949C>T (p.Leu317Phe)	UBE2Q1 (L317F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185554	NM_017582.7(UBE2Q1):c.803G>T (p.Ser268Ile)	UBE2Q1 (S268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299073	NM_017582.7(UBE2Q1):c.764G>A (p.Arg255Gln)	UBE2Q1 (R255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378499	NM_017582.7(UBE2Q1):c.284G>A (p.Gly95Glu)	LOC129931510, UBE2Q1 (G95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185553	NM_017582.7(UBE2Q1):c.280C>G (p.Arg94Gly)	LOC129931510, UBE2Q1 (R94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517840	NM_017582.7(UBE2Q1):c.278C>G (p.Pro93Arg)	LOC129931510, UBE2Q1 (P93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468552	NM_017582.7(UBE2Q1):c.278C>A (p.Pro93Gln)	LOC129931510, UBE2Q1 (P93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568683	NM_017582.7(UBE2Q1):c.266C>T (p.Pro89Leu)	LOC129931510, UBE2Q1 (P89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296146	NM_017582.7(UBE2Q1):c.253G>T (p.Ala85Ser)	LOC129931510, UBE2Q1 (A85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509203	NM_017582.7(UBE2Q1):c.97G>T (p.Gly33Trp)	UBE2Q1 (G33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343341	NM_017582.7(UBE2Q1):c.95G>C (p.Gly32Ala)	UBE2Q1 (G32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266943	NM_017582.7(UBE2Q1):c.95G>A (p.Gly32Glu)	UBE2Q1 (G32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516431	NM_017582.7(UBE2Q1):c.35C>T (p.Pro12Leu)	UBE2Q1 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance