PAX5[gene] and "single gene"[properties] - ClinVar - NCBI

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	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 3036751	NM_016734.3(PAX5):c.*16G>A	PAX5	Single nucleotide variant (3 prime UTR variant +2 more)	PAX5-related disorder	GLikely 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 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 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 1336961	NM_016734.3(PAX5):c.1161C>T (p.Ala387=)	PAX5 (P281L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2975426	NM_016734.3(PAX5):c.1152C>T (p.Ala384=)	PAX5 (P307L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 745370	NM_016734.3(PAX5):c.1149A>C (p.Ala383=)	PAX5 (Q277P +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1337669	NM_016734.3(PAX5):c.1137C>T (p.Ala379=)	PAX5 (P273L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
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 1337759	NM_016734.3(PAX5):c.1126G>A (p.Ala376Thr)	PAX5 (A205T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2635404	NM_016734.3(PAX5):c.1125C>A (p.Ala375=)	PAX5 (P269Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	PAX5-related disorder	GUncertain significance
Select item 3055435	NM_016734.3(PAX5):c.1119C>T (p.Ser373=)	PAX5 (A267V +1 more)	Single nucleotide variant (synonymous variant +2 more)	PAX5-related disorder	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 2875488	NM_016734.3(PAX5):c.1107C>T (p.Pro369=)	PAX5 (P292L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2869733	NM_016734.3(PAX5):c.1100-11G>T	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1336248	NM_016734.3(PAX5):c.1100-11G>A	PAX5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1971724	NM_016734.3(PAX5):c.1100-12C>T	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1971929	NM_016734.3(PAX5):c.1099+13G>A	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 436160	NM_016734.3(PAX5):c.1099+12C>T	PAX5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2886920	NM_016734.3(PAX5):c.1093C>T (p.Leu365=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2443201	NM_016734.3(PAX5):c.1089G>A (p.Pro363=)	PAX5 (R286Q)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
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 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 2792566	NM_016734.3(PAX5):c.1038C>T (p.Tyr346=)	PAX5 (T269I)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2580250	NM_016734.2(PAX5):c.1018_1032del	PAX5	Deletion (intron variant)	Acute lymphoid leukemia	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 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 1337493	NM_016734.3(PAX5):c.1027G>A (p.Gly343Arg)	PAX5 (G235R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 436161	NM_016734.3(PAX5):c.1026C>T (p.Ser342=)	PAX5 (P265L)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
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 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 750487	NM_016734.3(PAX5):c.1013-5C>A	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1337664	NM_016734.3(PAX5):c.1013-7T>C	PAX5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 1337908	NM_016734.3(PAX5):c.990G>A (p.Pro330=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
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 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 2867694	NM_016734.3(PAX5):c.963C>T (p.Pro321=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2799450	NM_016734.3(PAX5):c.962C>G (p.Pro321Arg)	PAX5 (P278R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1210159	NM_016734.3(PAX5):c.962C>A (p.Pro321His)	PAX5 (P213H +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder	GPathogenic
Select item 1336590	NM_016734.3(PAX5):c.961C>T (p.Pro321Ser)	PAX5 (P213S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 2172313	NM_016734.3(PAX5):c.957C>A (p.Val319=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1336140	NM_016734.3(PAX5):c.957C>T (p.Val319=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 738476	NM_016734.3(PAX5):c.954C>T (p.His318=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 436163	NM_016734.3(PAX5):c.923C>T (p.Ala308Val)	PAX5 (A308V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 2038965	NM_016734.3(PAX5):c.922G>A (p.Ala308Thr)	PAX5 (A308T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2073122	NM_016734.3(PAX5):c.914G>A (p.Arg305His)	PAX5 (R262H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 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 1336045	NM_016734.3(PAX5):c.910+9A>G	PAX5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2255914	NM_016734.3(PAX5):c.907A>G (p.Thr303Ala)	PAX5 (T260A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2872829	NM_016734.3(PAX5):c.888G>A (p.Pro296=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2689656	NM_016734.3(PAX5):c.829A>C (p.Met277Leu)	PAX5 (M169L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 436162	NM_016734.3(PAX5):c.825C>T (p.Asp275=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1337695	NM_016734.3(PAX5):c.822G>A (p.Leu274=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1337094	NM_016734.3(PAX5):c.819G>C (p.Gly273=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2028016	NM_016734.3(PAX5):c.808C>T (p.Leu270=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915229	NM_016734.3(PAX5):c.807G>A (p.Ser269=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189320	NM_016734.3(PAX5):c.798C>T (p.Ala266=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868771	NM_016734.3(PAX5):c.781-16_781-15del	PAX5	Microsatellite (intron variant)	not provided	GLikely benign
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 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 2443203	NM_016734.3(PAX5):c.780+10G>A	PAX5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1337574	NM_016734.3(PAX5):c.774C>T (p.Pro258=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 1976708	NM_016734.3(PAX5):c.740C>T (p.Ser247Leu)	PAX5 (S181L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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

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