"Genomic Diagnostics Laboratory, National Institute of Medical Genomic - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580251	NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)	PAX5 (G281fs)	Deletion (nonsense +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580264	NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)	PAX5 (G281R +5 more)	Single nucleotide variant (nonsense +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580250	NM_001280548.2(PAX5):c.1013-6288_1013-6274del	PAX5	Deletion (intron variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580272	NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)	PAX5 (G215* +2 more)	Single nucleotide variant (nonsense +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580274	NM_016734.3(PAX5):c.963dup (p.Ala322fs)	PAX5 (A214fs +2 more)	Duplication (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2637935	NM_016734.3(PAX5):c.963del (p.Ala322fs)	PAX5 (A214fs +2 more)	Deletion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580252	NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)	PAX5 (E139* +3 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580253	NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)	LOC105376032, PAX5 (N129fs +2 more)	Insertion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580249	NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)	PAX5 (S134C +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580271	NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)	PAX5 (P130T +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580275	NM_016734.3(PAX5):c.263dup (p.Val90fs)	PAX5 (V90fs)	Duplication (frameshift variant +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 624590	NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)	PAX5	Single nucleotide variant (missense variant +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580270	NM_016734.3(PAX5):c.197G>A (p.Ser66Asn)	PAX5 (S66N)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580273	NM_016734.3(PAX5):c.134_147del (p.Ala45fs)	PAX5 (A45fs)	Deletion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580248	NM_016734.3(PAX5):c.77T>G (p.Val26Gly)	PAX5 (V26G)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580257	NM_016734.3(PAX5):c.46+1G>A	PAX5	Single nucleotide variant (splice donor variant)	Acute lymphoid leukemia	GLikely pathogenic