Unique variants in gene ITGA4

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

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.*3545G>A benign r.(=) p.(=) g.182403799G>A - CERKL(NM_001030311.2):c.1616+20C>T - CERKL_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.*3597G>A benign r.(=) p.(=) g.182403851G>A - CERKL(NM_001030311.2):c.1584C>T (p.D528=) - CERKL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.*9175G>T VUS r.(=) p.(=) g.182409429G>T - CERKL(NM_001030311.2):c.1441C>A (p.Q481K) - CERKL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*9223G>A VUS r.(=) p.(=) g.182409477G>A - CERKL(NM_001030311.2):c.1393C>T (p.R465W) - CERKL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*13005A>G benign r.(=) p.(=) g.182413259A>G - CERKL(NM_001030311.2):c.1211+13T>C - CERKL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*13142A>G benign r.(=) p.(=) g.182413396A>G - CERKL(NM_001030311.2):c.1151+11T>C - CERKL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.*13152_*13155del likely pathogenic r.(=) p.(=) g.182413406_182413409del - CERKL(NM_001030311.2):c.1151+3_1151+6delAAGT - CERKL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*13273A>G VUS r.(=) p.(=) g.182413527A>G - CERKL(NM_001030311.2):c.1031T>C (p.F344S) - CERKL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.*13277G>A VUS r.(=) p.(=) g.182413531G>A - CERKL(NM_001030311.2):c.1027C>T (p.Arg343Cys) - CERKL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.*13326A>G benign r.(=) p.(=) g.182413580A>G - CERKL(NM_001030311.2):c.978T>C (p.=) - CERKL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*13343A>G VUS r.(=) p.(=) g.182413597A>G - CERKL(NM_001030311.2):c.974-13T>C - CERKL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.*13348A>T benign r.(=) p.(=) g.182413602A>T - CERKL(NM_001030311.2):c.974-18T>A - CERKL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.*14094G>A likely benign r.(=) p.(=) g.182414348G>A - CERKL(NM_001030311.2):c.973+13C>T - CERKL_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.*14104T>C benign r.(=) p.(=) g.182414358T>C - CERKL(NM_001030311.2):c.973+3A>G (p.?) - CERKL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 2 - c.*23030C>T likely benign r.(=) p.(=) g.182423284C>T - CERKL(NM_001030311.2):c.898+9G>A - CERKL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.*23076A>G likely benign r.(=) p.(=) g.182423330A>G - CERKL(NM_001030311.2):c.861T>C (p.=) - CERKL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.*23090G>A pathogenic r.(=) p.(=) g.182423344G>A - CERKL(NM_001030311.2):c.847C>T (p.Arg283*) - CERKL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 2 - c.*23124C>G likely benign r.(=) p.(=) g.182423378C>G - CERKL(NM_001030311.2):c.813G>C (p.=) - CERKL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.*29895_*29903dup benign r.(=) p.(=) g.182430149_182430157dup - CERKL(NM_001030311.2):c.755+13_755+14insGTGATATAA - CERKL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*29953A>G benign r.(=) p.(=) g.182430207A>G - CERKL(NM_001030311.2):c.708T>C (p.H236=) - CERKL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*29965C>A benign r.(=) p.(=) g.182430219C>A - CERKL(NM_001030311.2):c.696G>T (p.L232F) - CERKL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*68407C>A VUS r.(=) p.(=) g.182468661C>A - CERKL(NM_001030311.2):c.384G>T (p.K128N) - CERKL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 - c.*68426A>C VUS r.(=) p.(=) g.182468680A>C - CERKL(NM_001030311.2):c.365T>G (p.Leu122Arg) - CERKL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Nijmegen
-/. 1 - c.*68478G>A benign r.(=) p.(=) g.182468732G>A - CERKL(NM_001030311.2):c.313C>T (p.R105W) - CERKL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.*68549T>G benign r.(=) p.(=) g.182468803T>G - CERKL(NM_001030311.2):c.242A>C (p.Asp81Ala) - CERKL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 - c.*68564A>T benign r.(=) p.(=) g.182468818A>T - CERKL(NM_001030311.2):c.239-12T>A - CERKL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.*121226G>C benign r.(=) p.(=) g.182521480G>C - CERKL(NM_001030311.2):c.238+16C>G - CERKL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.*121323C>T VUS, likely benign r.(=) p.(=) g.182521577C>T - CERKL(NM_001030311.2):c.157G>A (p.E53K) - CERKL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.*121324G>A benign r.(=) p.(=) g.182521578G>A - CERKL(NM_001030311.2):c.156C>T (p.F52=) - CERKL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*121378C>A benign r.(=) p.(=) g.182521632C>A - CERKL(NM_001030311.2):c.102G>T (p.=) - CERKL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.*121414G>C likely benign, benign r.(=) p.(=) g.182521668G>C - CERKL(NM_001030311.2):c.66C>G (p.=) - CERKL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.*121434C>G likely benign r.(=) p.(=) g.182521688C>G - CERKL(NM_001030311.2):c.46G>C (p.G16R) - CERKL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*121453C>T benign r.(=) p.(=) g.182521707C>T - CERKL(NM_001030311.2):c.27G>A (p.=) - CERKL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*121463C>A VUS r.(=) p.(=) g.182521717C>A - CERKL(NM_001030311.2):c.17G>T (p.R6L) - CERKL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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