Related gene-specific medical variations for Gene (Select 5079) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2903247	NM_016734.3(PAX5):c.599A>C (p.Asp200Ala)	LOC105376032, PAX5 (D92A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2877480	NM_016734.3(PAX5):c.534G>C (p.Ser178=)	LOC105376032, PAX5	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2871692	NM_016734.3(PAX5):c.411-12A>T	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2851227	NM_016734.3(PAX5):c.478T>C (p.Ser160Pro)	LOC105376032, PAX5 (S52P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2689658	NM_016734.3(PAX5):c.92G>A (p.Arg31Gln)	PAX5 (R31Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2689657	NM_016734.3(PAX5):c.1016G>A (p.Ser339Asn)	PAX5 (S231N +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2635250	NM_016734.3(PAX5):c.571A>G (p.Ser191Gly)	LOC105376032, PAX5 (S125G +2 more)	Single nucleotide variant (missense variant +2 more)	PAX5-related disorder	GUncertain significance
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 2579061	NM_016734.3(PAX5):c.541A>G (p.Ile181Val)	LOC105376032, PAX5 (I115V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 1695492	NM_016734.3(PAX5):c.-79A>G	LOC108254682, PAX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1684986	NM_016734.3(PAX5):c.604+7G>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1285025	NM_016734.3(PAX5):c.476-3C>T	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280907	NM_016734.3(PAX5):c.604+206G>A	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268399	NM_016734.3(PAX5):c.476-33T>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254756	NM_016734.3(PAX5):c.475+15T>A	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1254532	NM_016734.3(PAX5):c.475+253_475+254dup	LOC105376032, PAX5	Duplication (intron variant)	not provided	GLikely benign
Select item 1254317	NM_016734.3(PAX5):c.-58dup	LOC108254682, PAX5	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1242955	NM_016734.3(PAX5):c.476-302T>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242616	NM_016734.3(PAX5):c.475+253dup	LOC105376032, PAX5	Duplication (intron variant)	not provided	GBenign
Select item 1221158	NM_016734.3(PAX5):c.604+98C>A	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
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 748605	NM_016734.3(PAX5):c.411-4A>G	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 587563	NM_016734.3(PAX5):c.435G>C (p.Gln145His)	LOC105376032, PAX5 (Q145H +2 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 135002	NM_016734.3(PAX5):c.857C>T (p.Pro286Leu)	PAX5 (P286L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135000	NM_016734.3(PAX5):c.451G>A (p.Val151Ile)	LOC105376032, PAX5 (V151I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 133372	NM_016734.3(PAX5):c.*15C>T	PAX5 (A320V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	Gnot provided
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

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Links from Gene

Items: 30