5079[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC01235, LINC01239 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001820, LOC130001821 +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	LOC130001624, LOC130001625 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	SLC24A2, SLC25A51 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 145656	GRCh38/hg38 9p13.2(chr9:36390138-36924289)x3	LOC108254684, LOC126860625 +23 more	Copy number gain	See cases	GUncertain significance
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

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