"GeneDx"[submitter] AND "PAX5"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1226046	NM_016734.3(PAX5):c.*230G>A	PAX5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1254811	NM_016734.3(PAX5):c.*111C>T	PAX5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1878883	NM_016734.3(PAX5):c.1163A>G (p.Tyr388Cys)	PAX5 (M282V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1210155	NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter)	PAX5 (R206* +8 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 134998	NM_016734.3(PAX5):c.1110C>T (p.Tyr370=)	PAX5 (T293I +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1234553	NM_016734.3(PAX5):c.1100-52G>A	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254224	NM_016734.3(PAX5):c.1100-73G>T	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245021	NM_016734.3(PAX5):c.1100-94G>C	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243970	NM_016734.3(PAX5):c.1099+247G>A	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135004	NM_016734.3(PAX5):c.1029G>A (p.Gly343=)	PAX5 (G266E)	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign/Likely benign
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 +1 more	GUncertain significance
Select item 1257112	NM_016734.3(PAX5):c.1013-213C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276796	NM_016734.3(PAX5):c.1012+135A>G	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254206	NM_016734.3(PAX5):c.1012+68C>G	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254824	NM_016734.3(PAX5):c.1012+62T>C	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135003	NM_016734.3(PAX5):c.964G>A (p.Ala322Thr)	PAX5 (A322T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3369174	NM_016734.3(PAX5):c.961C>A (p.Pro321Thr)	PAX5 (P213T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2446680	NM_016734.3(PAX5):c.959C>G (p.Pro320Arg)	PAX5 (P212R +2 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1291673	NM_016734.3(PAX5):c.911-39A>G	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273781	NM_016734.3(PAX5):c.911-190GT[15]	PAX5	Microsatellite (intron variant)	not provided	GBenign
Select item 1220820	NM_016734.3(PAX5):c.911-190GT[16]	PAX5	Microsatellite (intron variant)	not provided	GBenign
Select item 1276896	NM_016734.3(PAX5):c.911-190GT[10]	PAX5	Microsatellite (intron variant)	not provided	GBenign
Select item 1253853	NM_016734.3(PAX5):c.911-190GT[11]	PAX5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1224141	NM_016734.3(PAX5):c.911-190GT[13]	PAX5	Microsatellite (intron variant)	not provided	GBenign
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 1264907	NM_016734.3(PAX5):c.781-127C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296940	NM_016734.3(PAX5):c.781-285G>C	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239087	NM_016734.3(PAX5):c.781-4620G>C	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234271	NM_016734.3(PAX5):c.781-4807A>G	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294442	NM_016734.3(PAX5):c.781-4815G>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276348	NM_016734.3(PAX5):c.781-4908G>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290190	NM_016734.3(PAX5):c.781-5023G>A	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228255	NM_016734.3(PAX5):c.781-5095A>G	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3366002	NM_016734.3(PAX5):c.781-7403G>A	PAX5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1235064	NM_016734.3(PAX5):c.780+167T>C	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254255	NM_016734.3(PAX5):c.780+45C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254877	NM_016734.3(PAX5):c.780+33C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873000	NM_016734.3(PAX5):c.697C>A (p.Gln233Lys)	PAX5 (Q190K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810051	NM_016734.3(PAX5):c.644C>T (p.Pro215Leu)	PAX5 (P107L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1253996	NM_016734.3(PAX5):c.605-228A>G	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 1221158	NM_016734.3(PAX5):c.604+98C>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 1242955	NM_016734.3(PAX5):c.476-302T>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254532	NM_016734.3(PAX5):c.475+253_475+254dup	LOC105376032, PAX5	Duplication (intron variant)	not provided	GLikely benign
Select item 1242616	NM_016734.3(PAX5):c.475+253dup	LOC105376032, PAX5	Duplication (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 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 1231164	NM_016734.3(PAX5):c.410+283C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363560	NM_016734.3(PAX5):c.409A>T (p.Arg137Trp)	PAX5 (R137W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1235382	NM_016734.3(PAX5):c.213-43T>C	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237310	NM_016734.3(PAX5):c.213-259C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281067	NM_016734.3(PAX5):c.212+272C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254452	NM_016734.3(PAX5):c.212+245A>G	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274509	NM_016734.3(PAX5):c.212+117C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257762	NM_016734.3(PAX5):c.212+11T>G	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231066	NM_016734.3(PAX5):c.47-152G>A	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254400	NM_016734.3(PAX5):c.47-263A>G	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249714	NM_016734.3(PAX5):c.46+290T>C	PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2571875	NM_016734.3(PAX5):c.45A>G (p.Thr15=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 134997	NM_016734.3(PAX5):c.6T>A (p.Asp2Glu)	PAX5 (D2E)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely 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 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 1266893	NC_000009.12:g.37034620T>C	LOC108254682, PAX5	Single nucleotide variant	not provided	GBenign
Select item 1282035	NC_000009.12:g.37034672C>T	LOC108254682, PAX5	Single nucleotide variant	not provided	GBenign
Select item 1254695	NC_000009.12:g.37034757A>G	LOC108254682, PAX5	Single nucleotide variant	not provided	GLikely benign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 72