Full data view for gene ITGA4

Information The variants shown are described using the NM_000885.4 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.*2660C>T r.(=) p.(=) Unknown - likely benign g.182402914C>T g.181538187C>T CERKL(NM_001030311.2):c.1674G>A (p.K558=) - CERKL_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3545G>A r.(=) p.(=) Unknown - benign g.182403799G>A g.181539072G>A CERKL(NM_001030311.2):c.1616+20C>T - CERKL_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3597G>A r.(=) p.(=) Unknown - benign g.182403851G>A g.181539124G>A CERKL(NM_001030311.2):c.1584C>T (p.D528=) - CERKL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*3597G>A r.(=) p.(=) Unknown - benign g.182403851G>A g.181539124G>A CERKL(NM_001030311.2):c.1584C>T (p.D528=) - CERKL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*3605C>T r.(=) p.(=) Unknown - VUS g.182403859C>T g.181539132C>T CERKL(NM_001030311.2):c.1576G>A (p.D526N) - CERKL_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9175G>T r.(=) p.(=) Unknown - VUS g.182409429G>T g.181544702G>T CERKL(NM_001030311.2):c.1441C>A (p.Q481K) - CERKL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*9223G>A r.(=) p.(=) Unknown - VUS g.182409477G>A g.181544750G>A CERKL(NM_001030311.2):c.1393C>T (p.R465W) - CERKL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*13005A>G r.(=) p.(=) Unknown - benign g.182413259A>G g.181548532A>G CERKL(NM_001030311.2):c.1211+13T>C - CERKL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*13142A>G r.(=) p.(=) Unknown - benign g.182413396A>G g.181548669A>G CERKL(NM_001030311.2):c.1151+11T>C - CERKL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.*13152_*13155del r.(=) p.(=) Unknown - likely pathogenic g.182413406_182413409del g.181548679_181548682del CERKL(NM_001030311.2):c.1151+3_1151+6delAAGT - CERKL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*13273A>G r.(=) p.(=) Unknown - VUS g.182413527A>G g.181548800A>G CERKL(NM_001030311.2):c.1031T>C (p.F344S) - CERKL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*13277G>A r.(=) p.(=) Unknown - VUS g.182413531G>A g.181548804G>A CERKL(NM_001030311.2):c.1027C>T (p.R343C) - CERKL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*13277G>A r.(=) p.(=) Unknown - VUS g.182413531G>A g.181548804G>A CERKL(NM_001030311.2):c.1027C>T (p.R343C) - CERKL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*13277G>A r.(=) p.(=) Unknown - VUS g.182413531G>A g.181548804G>A CERKL(NM_001030311.2):c.1027C>T (p.R343C) - CERKL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*13326A>G r.(=) p.(=) Unknown - benign g.182413580A>G g.181548853A>G CERKL(NM_001030311.2):c.978T>C (p.H326=) - CERKL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*13326A>G r.(=) p.(=) Unknown - likely benign g.182413580A>G g.181548853A>G CERKL(NM_001030311.2):c.978T>C (p.H326=) - CERKL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*13343A>G r.(=) p.(=) Unknown - VUS g.182413597A>G g.181548870A>G CERKL(NM_001030311.2):c.974-13T>C - CERKL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*13348A>T r.(=) p.(=) Unknown - benign g.182413602A>T g.181548875A>T CERKL(NM_001030311.2):c.974-18T>A - CERKL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*13348A>T r.(=) p.(=) Unknown - benign g.182413602A>T g.181548875A>T CERKL(NM_001030311.2):c.974-18T>A - CERKL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*14094G>A r.(=) p.(=) Unknown - likely benign g.182414348G>A g.181549621G>A CERKL(NM_001030311.2):c.973+13C>T - CERKL_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*14104T>C r.(=) p.(=) Unknown - benign g.182414358T>C g.181549631T>C CERKL(NM_001030311.2):c.973+3A>G - CERKL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*14104T>C r.(=) p.(=) Unknown - benign g.182414358T>C g.181549631T>C CERKL(NM_001030311.2):c.973+3A>G - CERKL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*23030C>T r.(=) p.(=) Unknown - likely benign g.182423284C>T g.181558557C>T CERKL(NM_001030311.2):c.898+9G>A - CERKL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*23030C>T r.(=) p.(=) Unknown - likely benign g.182423284C>T g.181558557C>T CERKL(NM_001030311.2):c.898+9G>A - CERKL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*23076A>G r.(=) p.(=) Unknown - likely benign g.182423330A>G g.181558603A>G CERKL(NM_001030311.2):c.861T>C (p.P287=) - CERKL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*23076A>G r.(=) p.(=) Unknown - - g.182423330A>G - CERKL(NM_001030311.2):c.861T>C (p.P287=) - CERKL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*23090G>A r.(=) p.(=) Unknown - pathogenic g.182423344G>A g.181558617G>A CERKL(NM_001030311.2):c.847C>T (p.R283*) - CERKL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*23090G>A r.(=) p.(=) Unknown - pathogenic g.182423344G>A g.181558617G>A CERKL(NM_001030311.2):c.847C>T (p.R283*) - CERKL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*23124C>G r.(=) p.(=) Unknown - likely benign g.182423378C>G g.181558651C>G CERKL(NM_001030311.2):c.813G>C (p.L271=) - CERKL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*23124C>G r.(=) p.(=) Unknown - likely benign g.182423378C>G g.181558651C>G CERKL(NM_001030311.2):c.813G>C (p.L271=) - CERKL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*29895_*29903dup r.(=) p.(=) Unknown - benign g.182430149_182430157dup g.181565422_181565430dup CERKL(NM_001030311.2):c.755+5_755+13dupGTGATATAA - CERKL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*29953A>G r.(=) p.(=) Unknown - benign g.182430207A>G g.181565480A>G CERKL(NM_001030311.2):c.708T>C (p.H236=) - CERKL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*29965C>A r.(=) p.(=) Unknown - benign g.182430219C>A g.181565492C>A CERKL(NM_001030311.2):c.696G>T (p.L232F) - CERKL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*68407C>A r.(=) p.(=) Unknown - VUS g.182468661C>A g.181603934C>A CERKL(NM_001030311.2):c.384G>T (p.K128N) - CERKL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*68426A>C r.(=) p.(=) Unknown - VUS g.182468680A>C g.181603953A>C CERKL(NM_001030311.2):c.365T>G (p.L122R) - CERKL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*68426A>C r.(=) p.(=) Unknown - VUS g.182468680A>C g.181603953A>C CERKL(NM_001030311.2):c.365T>G (p.L122R) - CERKL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.*68426A>C r.(=) p.(=) Unknown - likely pathogenic g.182468680A>C g.181603953A>C CERKL(NM_001030311.2):c.365T>G (p.L122R) - CERKL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*68478G>A r.(=) p.(=) Unknown - benign g.182468732G>A g.181604005G>A CERKL(NM_001030311.2):c.313C>T (p.R105W) - CERKL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*68549T>G r.(=) p.(=) Unknown - benign g.182468803T>G g.181604076T>G CERKL(NM_001030311.2):c.242A>C (p.D81A) - CERKL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*68549T>G r.(=) p.(=) Unknown - benign g.182468803T>G g.181604076T>G CERKL(NM_001030311.2):c.242A>C (p.D81A) - CERKL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*68564A>T r.(=) p.(=) Unknown - benign g.182468818A>T g.181604091A>T CERKL(NM_001030311.2):c.239-12T>A - CERKL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*68564A>T r.(=) p.(=) Unknown - benign g.182468818A>T g.181604091A>T CERKL(NM_001030311.2):c.239-12T>A - CERKL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*121226G>C r.(=) p.(=) Unknown - benign g.182521480G>C g.181656753G>C CERKL(NM_001030311.2):c.238+16C>G - CERKL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*121236_*121250del r.(=) p.(=) Unknown - - g.182521490_182521504del - - - chr2_017065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*121289C>T r.(=) p.(=) Unknown - VUS g.182521543C>T g.181656816C>T CERKL(NM_001030311.2):c.191G>A (p.S64N) - CERKL_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*121323C>T r.(=) p.(=) Unknown - VUS g.182521577C>T g.181656850C>T CERKL(NM_001030311.2):c.157G>A (p.E53K) - CERKL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*121323C>T r.(=) p.(=) Unknown - likely benign g.182521577C>T g.181656850C>T CERKL(NM_001030311.2):c.157G>A (p.E53K) - CERKL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*121324G>A r.(=) p.(=) Unknown - benign g.182521578G>A g.181656851G>A CERKL(NM_001030311.2):c.156C>T (p.F52=) - CERKL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*121378C>A r.(=) p.(=) Unknown - benign g.182521632C>A g.181656905C>A CERKL(NM_001030311.2):c.102G>T (p.T34=) - CERKL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*121414G>C r.(=) p.(=) Unknown - benign g.182521668G>C g.181656941G>C CERKL(NM_001030311.2):c.66C>G (p.P22=) - CERKL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*121414G>C r.(=) p.(=) Unknown - likely benign g.182521668G>C g.181656941G>C CERKL(NM_001030311.2):c.66C>G (p.P22=) - CERKL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*121434C>G r.(=) p.(=) Unknown - likely benign g.182521688C>G g.181656961C>G CERKL(NM_001030311.2):c.46G>C (p.G16R) - CERKL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*121453C>T r.(=) p.(=) Unknown - benign g.182521707C>T g.181656980C>T CERKL(NM_001030311.2):c.27G>A (p.R9=) - CERKL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*121453C>T r.(=) p.(=) Unknown - - g.182521707C>T - CERKL(NM_001030311.2):c.27G>A (p.R9=) - CERKL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*121463C>A r.(=) p.(=) Unknown - VUS g.182521717C>A g.181656990C>A CERKL(NM_001030311.2):c.17G>T (p.R6L) - CERKL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend