ClinVar for Gene (Select 5079) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063101	GRCh37/hg19 9p13.2(chr9:36528275-37141555)x1	MELK, PAX5 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
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 condition	GUncertain significance
Select item 3036751	NM_016734.3(PAX5):c.*16G>A	PAX5	Single nucleotide variant (3 prime UTR variant +2 more)	PAX5-related condition	GLikely benign
Select item 3032717	NM_016734.3(PAX5):c.213-10T>G	PAX5	Single nucleotide variant (intron variant)	PAX5-related condition	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 2915229	NM_016734.3(PAX5):c.807G>A (p.Ser269=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2897346	NM_016734.3(PAX5):c.288G>A (p.Val96=)	PAX5	Single nucleotide variant (synonymous variant +3 more)	not provided	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 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 2877249	NM_016734.3(PAX5):c.47-17T>C	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875488	NM_016734.3(PAX5):c.1107C>T (p.Pro369=)	PAX5 (P292L +1 more)	Single nucleotide variant (synonymous variant +2 more)	PAX5-related condition +1 more	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 2872829	NM_016734.3(PAX5):c.888G>A (p.Pro296=)	PAX5	Single nucleotide variant (synonymous variant +1 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 2870831	NM_016734.3(PAX5):c.324C>T (p.Thr108=)	PAX5	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2870583	NM_016734.3(PAX5):c.393C>T (p.Ser131=)	PAX5	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 2868771	NM_016734.3(PAX5):c.781-16_781-15del	PAX5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2867806	NM_016734.3(PAX5):c.365G>A (p.Arg122Gln)	PAX5 (R122Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 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 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 2785249	NM_016734.3(PAX5):c.101C>T (p.Pro34Leu)	PAX5 (P34L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2784898	NM_016734.3(PAX5):c.639G>A (p.Ser213=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721435	NM_016734.3(PAX5):c.46+8C>G	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659193	NM_016734.3(PAX5):c.673C>T (p.Arg225Trp)	PAX5 (R117W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2635404	NM_016734.3(PAX5):c.1125C>A (p.Ala375=)	PAX5 (P269Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	PAX5-related condition	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 condition	GUncertain significance
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 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 2599971	NM_016734.3(PAX5):c.715C>T (p.Arg239Cys)	PAX5 (R173C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580275	NM_016734.3(PAX5):c.263dup (p.Val90fs)	PAX5 (V90fs)	Duplication (frameshift variant +3 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 2580273	NM_016734.3(PAX5):c.134_147del (p.Ala45fs)	PAX5 (A45fs)	Deletion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
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 2580271	NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)	PAX5 (P130T +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580270	NM_016734.3(PAX5):c.197G>A (p.Ser66Asn)	PAX5 (S66N)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GUncertain significance
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 2580257	NM_016734.3(PAX5):c.46+1G>A	PAX5	Single nucleotide variant (splice donor variant)	Acute lymphoid leukemia	GLikely pathogenic
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 2580252	NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)	PAX5 (E139* +3 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
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 2580250	NM_001280548.2(PAX5):c.1013-6288_1013-6274del	PAX5	Deletion (intron variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580249	NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)	PAX5 (S134C +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580248	NM_016734.3(PAX5):c.77T>G (p.Val26Gly)	PAX5 (V26G)	Single nucleotide variant (missense 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 2571875	NM_016734.3(PAX5):c.45A>G (p.Thr15=)	PAX5	Single nucleotide variant (synonymous variant +2 more)	not provided	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 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 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 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 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 2443203	NM_016734.3(PAX5):c.780+10G>A	PAX5	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 2428918	NM_016734.3(PAX5):c.854C>T (p.Thr285Ile)	PAX5 (T177I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2332680	NM_016734.3(PAX5):c.659T>C (p.Leu220Pro)	PAX5 (L112P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311239	NM_016734.3(PAX5):c.64C>A (p.Gln22Lys)	PAX5 (Q22K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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
Select item 2265189	NM_016734.3(PAX5):c.684G>C (p.Leu228Phe)	PAX5 (L120F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2189320	NM_016734.3(PAX5):c.798C>T (p.Ala266=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2028016	NM_016734.3(PAX5):c.808C>T (p.Leu270=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1971929	NM_016734.3(PAX5):c.1099+13G>A	PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971724	NM_016734.3(PAX5):c.1100-12C>T	PAX5	Single nucleotide variant (intron variant)	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 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 1808874	GRCh37/hg19 9p13.2(chr9:36356176-36950301)x3	MELK, PAX5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
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 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 1684986	NM_016734.3(PAX5):c.604+7G>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1338554	NM_016734.3(PAX5):c.605G>A (p.Gly202Asp)	PAX5 (G136D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1338050	NM_016734.3(PAX5):c.662G>A (p.Arg221Gln)	PAX5 (R113Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337936	NM_016734.3(PAX5):c.700C>T (p.Leu234=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 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 1337749	NM_016734.3(PAX5):c.717C>T (p.Arg239=)	PAX5	Single nucleotide variant (synonymous variant +1 more)	not specified +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 specified +1 more	GLikely benign

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