ClinVar for MedGen (Select 816204) - ClinVar - NCBI

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

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577905	NM_016734.3(PAX5):c.490G>T (p.Val164Leu)	LOC105376032, PAX5 (V164L +2 more)	Single nucleotide variant (missense variant +2 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GUncertain significance
Select item 2444880	NM_016734.3(PAX5):c.887C>T (p.Pro296Leu)	PAX5 (P188L +3 more)	Single nucleotide variant (missense variant +1 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GUncertain significance
Select item 2073122	NM_016734.3(PAX5):c.914G>A (p.Arg305His)	PAX5 (R262H +2 more)	Single nucleotide variant (intron variant +2 more)	Leukemia, acute lymphoblastic, susceptibility to, 3 +1 more	GUncertain significance
Select item 1691541	NM_016734.3(PAX5):c.22C>T (p.Pro8Ser)	PAX5 (P8S)	Single nucleotide variant (missense variant +2 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GUncertain significance
Select item 1210158	NM_016734.3(PAX5):c.661C>T (p.Arg221Trp)	PAX5 (R113W +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GPathogenic
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	GConflicting classifications of pathogenicity
Select item 1172745	NM_016734.3(PAX5):c.253G>A (p.Gly85Arg)	PAX5 (G85R)	Single nucleotide variant (missense variant +3 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GLikely pathogenic
Select item 802486	NM_016734.3(PAX5):c.1013-6A>G	PAX5	Single nucleotide variant (intron variant)	Leukemia, acute lymphoblastic, susceptibility to, 3	GLikely benign
Select item 620623	NM_016734.3(PAX5):c.701T>C (p.Leu234Pro)	PAX5 (L234P +3 more)	Single nucleotide variant (missense variant +1 more)	Leukemia, acute lymphoblastic, susceptibility to, 3 +1 more	GUncertain significance
Select item 620603	NM_016734.3(PAX5):c.1169G>A (p.Arg390His)	PAX5 (R390H +10 more)	Single nucleotide variant (missense variant +1 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GUncertain significance
Select item 517139	NM_016734.3(PAX5):c.1013-1G>A	PAX5	Single nucleotide variant (intron variant +1 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GUncertain significance
Select item 135001	NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)	PAX5 (S213L +3 more)	Single nucleotide variant (missense variant +1 more)	Leukemia, acute lymphoblastic, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 88892	NM_016734.3(PAX5):c.547G>A (p.Gly183Ser)	LOC105376032, PAX5 (G183S +2 more)	Single nucleotide variant (missense variant +2 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	Grisk factor