Full data view for gene ABL1

Information The variants shown are described using the transcript reference sequence.

101 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.137-18709dup r.(=) p.(=) Unknown - benign g.133710742dup g.130835355dup ABL1(NM_007313.3):c.137-18709dupC - ABL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.137-18647T>C r.(=) p.(=) Unknown - benign g.133710804T>C g.130835417T>C ABL1(NM_007313.3):c.137-18647T>C - ABL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.137-18632_137-18631insC r.(=) p.(=) Unknown - benign g.133710819_133710820insC g.130835432_130835433insC ABL1(NM_007313.3):c.137-18632_137-18631insC - ABL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>A r.(?) p.(Ser62Asn) Unknown - likely benign g.133729499G>A g.130854112G>A ABL1(NM_007313.2):c.185G>A (p.S62N) - ABL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306T>G r.(?) p.(Thr102=) Unknown - benign g.133729620T>G g.130854233T>G ABL1(NM_005157.6):c.249T>G (p.T83=), ABL1(NM_007313.2):c.306T>G (p.T102=) - ABL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306T>G r.(?) p.(Thr102=) Unknown - benign g.133729620T>G - ABL1(NM_005157.6):c.249T>G (p.T83=), ABL1(NM_007313.2):c.306T>G (p.T102=) - ABL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324G>A r.(?) p.(Arg108=) Unknown - likely benign g.133730201G>A g.130854814G>A ABL1(NM_005157.4):c.267G>A (p.(=)) - ABL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401A>G r.(?) p.(Tyr134Cys) Unknown - VUS g.133730278A>G - ABL1(NM_005157.6):c.344A>G (p.Y115C) - ABL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>A r.(?) p.(Thr136=) Unknown - likely benign g.133730285G>A g.130854898G>A ABL1(NM_007313.2):c.408G>A (p.T136=) - ABL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.434_436del r.(?) p.(Ser145del) Unknown - VUS g.133730311_133730313del g.130854924_130854926del - - ABL1_000009 - - - - De novo yes - - - - DNA SEQ-NG Peripheral blood - ? NBG - - M - Spain - - - - - 1 Nereida Bravo Gil
-?/. - c.609C>T r.(?) p.(Leu203=) Unknown - likely benign g.133738152C>T g.130862765C>T ABL1(NM_007313.2):c.609C>T (p.L203=) - ABL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.613G>A r.(?) p.(Val205Ile) Unknown - VUS g.133738156G>A g.130862769G>A ABL1(NM_007313.2):c.613G>A (p.V205I), ABL1(NM_007313.3):c.613G>A (p.V205I) - ABL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.613G>A r.(?) p.(Val205Ile) Unknown - VUS g.133738156G>A - ABL1(NM_007313.2):c.613G>A (p.V205I), ABL1(NM_007313.3):c.613G>A (p.V205I) - ABL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628C>T r.(?) p.(Arg210Cys) Unknown - VUS g.133738171C>T - ABL1(NM_005157.4):c.571C>T (p.(Arg191Cys)), ABL1(NM_005157.6):c.571C>T (p.R191C) - ABL1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628C>T r.(?) p.(Arg210Cys) Unknown - VUS g.133738171C>T - ABL1(NM_005157.4):c.571C>T (p.(Arg191Cys)), ABL1(NM_005157.6):c.571C>T (p.R191C) - ABL1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646G>A r.(?) p.(Glu216Lys) Unknown - VUS g.133738189G>A g.130862802G>A ABL1(NM_005157.6):c.589G>A (p.E197K), ABL1(NM_007313.2):c.646G>A (p.E216K) - ABL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646G>A r.(?) p.(Glu216Lys) Unknown - likely benign g.133738189G>A - ABL1(NM_005157.6):c.589G>A (p.E197K), ABL1(NM_007313.2):c.646G>A (p.E216K) - ABL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.777G>A r.(?) p.(Thr259=) Unknown - benign g.133738320G>A - ABL1(NM_005157.6):c.720G>A (p.T240=) - ABL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.797A>G r.(?) p.(Lys266Arg) Unknown - likely benign g.133738340A>G g.130862953A>G ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R) - ABL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.797A>G r.(?) p.(Lys266Arg) Unknown - likely benign g.133738340A>G - ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R) - ABL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.797A>G r.(?) p.(Lys266Arg) Unknown - benign g.133738340A>G - ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R) - ABL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.797A>G r.(?) p.(Lys266Arg) Unknown - likely benign g.133738340A>G - ABL1(NM_005157.6):c.740A>G (p.(Lys247Arg), p.K247R), ABL1(NM_007313.2):c.797A>G (p.K266R), ABL1(NM_007313.3):c.797A>G (p.K266R) - ABL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813G>A r.(?) p.(Gln271=) Unknown - likely benign g.133738356G>A - ABL1(NM_005157.6):c.756G>A (p.Q252=) - ABL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.964+172G>A r.(=) p.(=) Unknown - likely benign g.133747772G>A - ABL1(NM_005157.6):c.907+172G>A - ABL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016A>G r.(?) p.(Tyr339Cys) Unknown - VUS g.133748298A>G - ABL1(NM_007313.3):c.1016A>G (p.Y339C) - ABL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1049A>T r.(?) p.(Asn350Ile) Unknown - VUS g.133748331A>T - ABL1(NM_005157.6):c.992A>T (p.(Asn331Ile)) - ABL1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1052G>A r.(?) p.(Arg351Gln) Unknown - VUS g.133748334G>A g.130872947G>A ABL1(NM_007313.2):c.1052G>A (p.R351Q) - ABL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1117C>A r.(?) p.(Leu373Met) Unknown - VUS g.133748399C>A - ABL1(NM_007313.3):c.1117C>A (p.L373M) - ABL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1133T>G r.(?) p.(Phe378Cys) Unknown - VUS g.133748415T>G - - - ABL1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1328-327C>T r.(=) p.(=) Unknown - likely benign g.133753475C>T - ABL1(NM_005157.6):c.1271-327C>T - ABL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1463A>G r.(?) p.(Tyr488Cys) Unknown - VUS g.133753937A>G - ABL1(NM_005157.4):c.1406A>G (p.(Tyr469Cys)) - ABL1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559G>A r.(?) p.(Ser520Asn) Unknown - VUS g.133755533G>A - ABL1(NM_005157.6):c.1502G>A (p.(Ser501Asn)) - ABL1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569C>T r.(?) p.(Asp523=) Unknown - likely benign g.133755543C>T - ABL1(NM_007313.2):c.1569C>T (p.D523=) - ABL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1570+16C>T r.(=) p.(=) Unknown - likely benign g.133755560C>T - ABL1(NM_007313.2):c.1570+16C>T - ABL1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1570+20_1570+21del r.(=) p.(=) Unknown - likely benign g.133755564_133755565del - ABL1(NM_005157.6):c.1513+20_1513+21delGT - ABL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1573G>A r.(?) p.(Val525Met) Unknown - VUS g.133755889G>A g.130880502G>A - - ABL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1731G>A r.(?) p.(=) Unknown - likely benign g.133756047G>A - ABL1(NM_005157.6):c.1674G>A (p.E558=) - ABL1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1734C>T r.(?) p.(=) Unknown - benign g.133756050C>T - ABL1(NM_005157.6):c.1677C>T (p.S559=) - ABL1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1735+14T>C r.(=) p.(=) Unknown - benign g.133756065T>C - ABL1(NM_005157.6):c.1678+14T>C - ABL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1758C>T r.(?) p.(Ala586=) Unknown - benign g.133759378C>T - ABL1(NM_005157.6):c.1701C>T (p.A567=), ABL1(NM_007313.2):c.1758C>T (p.A586=) - ABL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1758C>T r.(?) p.(Ala586=) Unknown - benign g.133759378C>T - ABL1(NM_005157.6):c.1701C>T (p.A567=), ABL1(NM_007313.2):c.1758C>T (p.A586=) - ABL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1759del r.(?) p.(Val587Cysfs*17) Unknown - VUS g.133759379del - ABL1(NM_007313.2):c.1759delG (p.V587Cfs*17) - ABL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1759G>A r.(?) p.(Val587Met) Unknown - VUS g.133759379G>A g.130883992G>A ABL1(NM_005157.4):c.1702G>A (p.(Val568Met)), ABL1(NM_007313.2):c.1759G>A (p.V587M) - ABL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1759G>A r.(?) p.(Val587Met) Unknown - likely benign g.133759379G>A - ABL1(NM_005157.4):c.1702G>A (p.(Val568Met)), ABL1(NM_007313.2):c.1759G>A (p.V587M) - ABL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1797G>A r.(?) p.(Pro599=) Unknown - likely benign g.133759417G>A - ABL1(NM_005157.6):c.1740G>A (p.P580=) - ABL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1926G>A r.(?) p.(Glu642=) Unknown - likely benign g.133759546G>A g.130884159G>A ABL1(NM_005157.4):c.1869G>A (p.(Glu623=)) - ABL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1933G>A r.(?) p.(Gly645Ser) Unknown - likely benign g.133759553G>A g.130884166G>A ABL1(NM_005157.4):c.1876G>A (p.(Gly626Ser)) - ABL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1935C>G r.(?) p.(=) Unknown - likely benign g.133759555C>G - ABL1(NM_005157.6):c.1878C>G (p.(Gly626=)) - ABL1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1956C>T r.(?) p.(Ala652=) Unknown - benign g.133759576C>T g.130884189C>T ABL1(NM_005157.6):c.1899C>T (p.A633=), ABL1(NM_007313.2):c.1956C>T (p.A652=) - ABL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1956C>T r.(?) p.(Ala652=) Unknown - benign g.133759576C>T - ABL1(NM_005157.6):c.1899C>T (p.A633=), ABL1(NM_007313.2):c.1956C>T (p.A652=) - ABL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2018C>A r.(?) p.(Ala673Asp) Unknown - likely benign g.133759638C>A g.130884251C>A ABL1(NM_007313.2):c.2018C>A (p.A673D) - ABL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2066A>G r.(?) p.(Asn689Ser) Unknown - likely benign g.133759686A>G - ABL1(NM_005157.6):c.2009A>G (p.N670S), ABL1(NM_007313.2):c.2066A>G (p.N689S), ABL1(NM_007313.3):c.2066A>G (p.N689S) - ABL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2066A>G r.(?) p.(Asn689Ser) Unknown - likely benign g.133759686A>G - ABL1(NM_005157.6):c.2009A>G (p.N670S), ABL1(NM_007313.2):c.2066A>G (p.N689S), ABL1(NM_007313.3):c.2066A>G (p.N689S) - ABL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2066A>G r.(?) p.(Asn689Ser) Unknown - likely benign g.133759686A>G - ABL1(NM_005157.6):c.2009A>G (p.N670S), ABL1(NM_007313.2):c.2066A>G (p.N689S), ABL1(NM_007313.3):c.2066A>G (p.N689S) - ABL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2077C>T r.(?) p.(Arg693Trp) Unknown - VUS g.133759697C>T g.130884310C>T ABL1(NM_007313.2):c.2077C>T (p.R693W) - ABL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2078G>A r.(?) p.(Arg693Gln) Unknown - likely benign g.133759698G>A - ABL1(NM_005157.4):c.2021G>A (p.(Arg674Gln)) - ABL1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2085C>T r.(?) p.(Ser695=) Unknown - likely benign g.133759705C>T g.130884318C>T ABL1(NM_007313.2):c.2085C>T (p.S695=) - ABL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2092T>G r.(?) p.(Ser698Ala) Unknown - likely benign g.133759712T>G g.130884325T>G ABL1(NM_005157.4):c.2035T>G (p.(Ser679Ala)), ABL1(NM_005157.6):c.2035T>G (p.S679A), ABL1(NM_007313.2):c.2092T>G (p.S698A) - ABL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2092T>G r.(?) p.(Ser698Ala) Unknown - likely benign g.133759712T>G - ABL1(NM_005157.4):c.2035T>G (p.(Ser679Ala)), ABL1(NM_005157.6):c.2035T>G (p.S679A), ABL1(NM_007313.2):c.2092T>G (p.S698A) - ABL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2092T>G r.(?) p.(Ser698Ala) Unknown - likely benign g.133759712T>G - ABL1(NM_005157.4):c.2035T>G (p.(Ser679Ala)), ABL1(NM_005157.6):c.2035T>G (p.S679A), ABL1(NM_007313.2):c.2092T>G (p.S698A) - ABL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2097C>T r.(?) p.(Gly699=) Unknown - likely benign g.133759717C>T g.130884330C>T ABL1(NM_005157.4):c.2040C>T (p.(Gly680=)), ABL1(NM_007313.2):c.2097C>T (p.G699=) - ABL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2097C>T r.(?) p.(Gly699=) Unknown - benign g.133759717C>T - ABL1(NM_005157.4):c.2040C>T (p.(Gly680=)), ABL1(NM_007313.2):c.2097C>T (p.G699=) - ABL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2173G>A r.(?) p.(Gly725Ser) Unknown - likely benign g.133759793G>A g.130884406G>A ABL1(NM_005157.4):c.2116G>A (p.(Gly706Ser)), ABL1(NM_007313.2):c.2173G>A (p.G725S) - ABL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2173G>A r.(?) p.(Gly725Ser) Unknown - benign g.133759793G>A - ABL1(NM_005157.4):c.2116G>A (p.(Gly706Ser)), ABL1(NM_007313.2):c.2173G>A (p.G725S) - ABL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2194T>G r.(?) p.(Phe732Val) Unknown - VUS g.133759814T>G - ABL1(NM_005157.4):c.2137T>G (p.(Phe713Val)) - ABL1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2221G>A r.(?) p.(Val741Ile) Unknown - VUS g.133759841G>A g.130884454G>A ABL1(NM_007313.2):c.2221G>A (p.V741I) - ABL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2244G>A r.(?) p.(Thr748=) Unknown - likely benign g.133759864G>A - ABL1(NM_005157.6):c.2187G>A (p.T729=), ABL1(NM_007313.2):c.2244G>A (p.T748=) - ABL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2244G>A r.(?) p.(Thr748=) Unknown - likely benign g.133759864G>A - ABL1(NM_005157.6):c.2187G>A (p.T729=), ABL1(NM_007313.2):c.2244G>A (p.T748=) - ABL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2262G>A r.(?) p.(Thr754=) Unknown - likely benign g.133759882G>A - ABL1(NM_005157.6):c.2205G>A (p.T735=), ABL1(NM_007313.2):c.2262G>A (p.T754=) - ABL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2262G>A r.(?) p.(Thr754=) Unknown - likely benign g.133759882G>A - ABL1(NM_005157.6):c.2205G>A (p.T735=), ABL1(NM_007313.2):c.2262G>A (p.T754=) - ABL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2303C>T r.(?) p.(Ser768Leu) Unknown - likely benign g.133759923C>T - ABL1(NM_007313.3):c.2303C>T (p.S768L) - ABL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2447T>G r.(?) p.(Val816Gly) Unknown - VUS g.133760067T>G - ABL1(NM_007313.2):c.2447T>G (p.V816G) - ABL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2486C>T r.(?) p.(Pro829Leu) Parent #1 - VUS g.133760106C>T g.130884719C>T - - ABL1_000035 no interpretation available; 23 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229071 Germline - 23/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
?/. - c.2486C>T r.(?) p.(Pro829Leu) Both (homozygous) - VUS g.133760106C>T g.130884719C>T - - ABL1_000035 no interpretation available; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229071 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.2486C>T r.(?) p.(Pro829Leu) Unknown - benign g.133760106C>T - ABL1(NM_005157.4):c.2429C>T (p.(Pro810Leu)), ABL1(NM_005157.6):c.2429C>T (p.P810L) - ABL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2486C>T r.(?) p.(Pro829Leu) Unknown - likely benign g.133760106C>T - ABL1(NM_005157.4):c.2429C>T (p.(Pro810Leu)), ABL1(NM_005157.6):c.2429C>T (p.P810L) - ABL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2540C>T r.(?) p.(Ser847Leu) Unknown - VUS g.133760160C>T - ABL1(NM_007313.2):c.2540C>T (p.S847L) - ABL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2547C>A r.(?) p.(Leu849=) Unknown - likely benign g.133760167C>A - ABL1(NM_007313.2):c.2547C>A (p.L849=) - ABL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2551C>A r.(?) p.(His851Asn) Unknown - likely benign g.133760171C>A - ABL1(NM_007313.2):c.2551C>A (p.H851N) - ABL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2575A>G r.(?) p.(Ser859Gly) Unknown - likely benign g.133760195A>G - ABL1(NM_005157.4):c.2518A>G (p.(Ser840Gly)) - ABL1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2744A>C r.(?) p.(Lys915Thr) Unknown - VUS g.133760364A>C g.130884977A>C ABL1(NM_007313.2):c.2744A>C (p.K915T) - ABL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2760C>G r.(?) p.(Pro920=) Unknown - likely benign g.133760380C>G g.130884993C>G ABL1(NM_005157.6):c.2703C>G (p.P901=), ABL1(NM_007313.2):c.2760C>G (p.P920=) - ABL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2760C>G r.(?) p.(Pro920=) Unknown - likely benign g.133760380C>G - ABL1(NM_005157.6):c.2703C>G (p.P901=), ABL1(NM_007313.2):c.2760C>G (p.P920=) - ABL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2801C>T r.(?) p.(Ser934Leu) Unknown - likely benign g.133760421C>T g.130885034C>T ABL1(NM_005157.4):c.2744C>T (p.(Ser915Leu)), ABL1(NM_005157.6):c.2744C>T (p.S915L), ABL1(NM_007313.2):c.2801C>T (p.S934L) - ABL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2801C>T r.(?) p.(Ser934Leu) Unknown - VUS g.133760421C>T - ABL1(NM_005157.4):c.2744C>T (p.(Ser915Leu)), ABL1(NM_005157.6):c.2744C>T (p.S915L), ABL1(NM_007313.2):c.2801C>T (p.S934L) - ABL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2801C>T r.(?) p.(Ser934Leu) Unknown - likely benign g.133760421C>T - ABL1(NM_005157.4):c.2744C>T (p.(Ser915Leu)), ABL1(NM_005157.6):c.2744C>T (p.S915L), ABL1(NM_007313.2):c.2801C>T (p.S934L) - ABL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2839C>T r.(?) p.(Leu947=) Unknown - likely benign g.133760459C>T - ABL1(NM_005157.6):c.2782C>T (p.L928=) - ABL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2878G>A r.(?) p.(Val960Met) Unknown - likely benign g.133760498G>A - ABL1(NM_005157.4):c.2821G>A (p.(Val941Met)) - ABL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2910G>A r.(?) p.(Pro970=) Unknown - likely benign g.133760530G>A - ABL1(NM_005157.6):c.2853G>A (p.P951=) - ABL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2972C>T r.(?) p.(Ser991Leu) Unknown - likely benign g.133760592C>T g.130885205C>T ABL1(NM_005157.4):c.2915C>T (p.(Ser972Leu)) - ABL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2972C>T r.(?) p.(Ser991Leu) Parent #1 - VUS g.133760592C>T g.130885205C>T - - ABL1_000024 no interpretation available; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229067 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.2973G>A r.(?) p.(Ser991=) Unknown - benign g.133760593G>A g.130885206G>A ABL1(NM_005157.6):c.2916G>A (p.S972=), ABL1(NM_007313.2):c.2973G>A (p.S991=) - ABL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2973G>A r.(?) p.(Ser991=) Unknown - benign g.133760593G>A - ABL1(NM_005157.6):c.2916G>A (p.S972=), ABL1(NM_007313.2):c.2973G>A (p.S991=) - ABL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2997C>T r.(?) p.(Pro999=) Unknown - likely benign g.133760617C>T g.130885230C>T ABL1(NM_005157.4):c.2940C>T (p.(Pro980=)) - ABL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3015A>G r.(?) p.(=) Unknown - benign g.133760635A>G - ABL1(NM_005157.6):c.2958A>G (p.P986=) - ABL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3027G>A r.(?) p.(Ser1009=) Unknown - likely benign g.133760647G>A g.130885260G>A ABL1(NM_007313.2):c.3027G>A (p.S1009=) - ABL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3057C>T r.(?) p.(=) Unknown - benign g.133760677C>T - ABL1(NM_005157.6):c.3000C>T (p.T1000=) - ABL1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3095G>A r.(?) p.(Arg1032Gln) Unknown - VUS g.133760715G>A g.130885328G>A ABL1(NM_007313.2):c.3095G>A (p.R1032Q) - ABL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3283C>T r.(?) p.(Gln1095*) Unknown ACMG pathogenic g.133760903C>T - - - ABL1_000042 - PubMed: Mendonca 2021 - - Somatic - 0.078 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
-/. - c.3381A>G r.(?) p.(Pro1127=) Unknown - benign g.133761001A>G g.130885614A>G ABL1(NM_007313.3):c.3381A>G (p.P1127=) - ABL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.