"Ambry Genetics"[submitter] AND "PAX5"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2608748	NM_016734.3(PAX5):c.1091G>A (p.Gly364Glu)	PAX5 (G264E +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2496268	NM_016734.3(PAX5):c.1081C>T (p.Pro361Ser)	PAX5 (P261S +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3304471	NM_016734.3(PAX5):c.1031G>A (p.Ser344Asn)	PAX5 (S244N +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2604117	NM_016734.3(PAX5):c.913C>T (p.Arg305Cys)	PAX5 (R197C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255914	NM_016734.3(PAX5):c.907A>G (p.Thr303Ala)	PAX5 (T260A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2428918	NM_016734.3(PAX5):c.854C>T (p.Thr285Ile)	PAX5 (T177I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2542167	NM_016734.3(PAX5):c.829A>T (p.Met277Leu)	PAX5 (M169L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3208981	NM_016734.3(PAX5):c.748T>G (p.Phe250Val)	PAX5 (F184V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309153	NM_016734.3(PAX5):c.731A>G (p.Gln244Arg)	PAX5 (Q244R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599971	NM_016734.3(PAX5):c.715C>T (p.Arg239Cys)	PAX5 (R173C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265189	NM_016734.3(PAX5):c.684G>C (p.Leu228Phe)	PAX5 (L120F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2332680	NM_016734.3(PAX5):c.659T>C (p.Leu220Pro)	PAX5 (L112P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550010	NM_016734.3(PAX5):c.590G>T (p.Arg197Leu)	LOC105376032, PAX5 (R131L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3208980	NM_016734.3(PAX5):c.449C>A (p.Pro150Gln)	LOC105376032, PAX5 (P150Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210157	NM_016734.3(PAX5):c.419G>A (p.Arg140Gln)	LOC105376032, PAX5 (R140Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2311239	NM_016734.3(PAX5):c.64C>A (p.Gln22Lys)	PAX5 (Q22K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance