Full data view for gene ABL1

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

53 entries on 1 page. Showing entries 1 - 53.
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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_007313.2):c.137-18709_137-18708insC - ABL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.137-18647T>C r.(=) p.(=) Unknown - benign g.133710804T>C g.130835417T>C ABL1(NM_007313.2):c.137-18647T>C - ABL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.137-18632_137-18631insC r.(=) p.(=) Unknown - benign g.133710819_133710820insC g.130835432_130835433insC ABL1(NM_007313.2):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_005157.5):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_005157.5):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.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 - - 0 - DNA SEQ-NG Peripheral blood - ? NBG - - M - Spain - - 0 - - 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_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646G>A r.(?) p.(Glu216Lys) Unknown - VUS g.133738189G>A g.130862802G>A ABL1(NM_007313.2):c.646G>A (p.E216K) - ABL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797A>G r.(?) p.(Lys266Arg) Unknown - VUS g.133738340A>G g.130862953A>G ABL1(NM_007313.2):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_007313.2):c.797A>G (p.K266R) - ABL1_000014 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_007313.2):c.1117C>A (p.L373M) - ABL1_000031 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.1573G>A r.(?) p.(Val525Met) Unknown - VUS g.133755889G>A g.130880502G>A - - ABL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1758C>T r.(?) p.(Ala586=) Unknown - benign g.133759378C>T - ABL1(NM_005157.5):c.1701C>T (p.A567=) - ABL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1759G>A r.(?) p.(Val587Met) Unknown - VUS g.133759379G>A g.130883992G>A ABL1(NM_007313.2):c.1759G>A (p.V587M) - ABL1_000032 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.(=)) - 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.1956C>T r.(?) p.(Ala652=) Unknown - benign g.133759576C>T g.130884189C>T 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_007313.2):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.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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2092T>G r.(?) p.(Ser698Ala) Unknown - likely benign g.133759712T>G g.130884325T>G 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.(=)), 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.(=)), 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.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_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_007313.2):c.2262G>A (p.T754=) - ABL1_000049 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - 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.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_007313.2):c.2760C>G (p.P920=) - ABL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2801C>T r.(?) p.(Ser934Leu) Unknown - likely benign g.133760421C>T g.130885034C>T ABL1(NM_007313.2):c.2801C>T (p.S934L) - ABL1_000023 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.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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
-/. - c.2973G>A r.(?) p.(Ser991=) Unknown - benign g.133760593G>A g.130885206G>A ABL1(NM_007313.2):c.2973G>A (p.S991=) - ABL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2997C>T r.(?) p.(Pro999=) Unknown - likely benign g.133760617C>T g.130885230C>T ABL1(NM_005157.4):c.2940C>T (p.(=)) - ABL1_000034 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.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.3381A>G r.(?) p.(Pro1127=) Unknown - benign g.133761001A>G g.130885614A>G ABL1(NM_007313.2):c.3381A>G (p.P1127=) - ABL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3401G>C r.(?) p.(Ser1134Thr) Unknown - VUS g.133761021G>C g.130885634G>C ABL1(NM_007313.2):c.3401G>C (p.S1134T) - ABL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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