Full data view for gene GATAD1

Information The variants shown are described using the NM_021167.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.24C>T likely benign r.(?) p.(=) Unknown g.92077067C>T - GATAD1(NM_021167.4):c.24C>T (p.T8=) - GATAD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48G>A likely benign r.(?) p.(=) Unknown g.92077091G>A - GATAD1(NM_021167.4):c.48G>A (p.S16=) - GATAD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159G>A likely benign r.(?) p.(=) Unknown g.92077202G>A - - - GATAD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160G>A benign r.(?) p.(Gly54Ser) Unknown g.92077203G>A - GATAD1(NM_021167.4):c.160G>A (p.G54S) - GATAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.160G>A benign r.(?) p.(Gly54Ser) Unknown g.92077203G>A - GATAD1(NM_021167.4):c.160G>A (p.G54S) - GATAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.175_177dup likely benign r.(?) p.(Gly59dup) Unknown g.92077218_92077220dup - - - GATAD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249+11C>G likely benign r.(=) p.(=) Unknown g.92077303C>G - GATAD1(NM_021167.4):c.249+11C>G - GATAD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.249+15C>T likely benign r.(=) p.(=) Unknown g.92077307C>T - GATAD1(NM_021167.4):c.249+15C>T - GATAD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285C>G likely benign r.(?) p.(=) Unknown g.92078101C>G - GATAD1(NM_021167.4):c.285C>G (p.L95=) - GATAD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.291C>T likely benign r.(?) p.(=) Unknown g.92078107C>T - GATAD1(NM_021167.4):c.291C>T (p.N97=) - GATAD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321A>G likely benign r.(?) p.(=) Unknown g.92078137A>G - - - GATAD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404C>T VUS r.(?) p.(Thr135Ile) Unknown g.92080043C>T - GATAD1(NM_021167.4):c.404C>T (p.T135I) - GATAD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558G>A likely benign r.(?) p.(=) Unknown g.92083938G>A - GATAD1(NM_021167.4):c.558G>A (p.T186=) - GATAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.558G>A benign r.(?) p.(=) Unknown g.92083938G>A - GATAD1(NM_021167.4):c.558G>A (p.T186=) - GATAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.619+17G>A likely benign r.(=) p.(=) Unknown g.92084016G>A - GATAD1(NM_021167.4):c.619+17G>A - GATAD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.697C>T benign r.(?) p.(Arg233Trp) Unknown g.92085763C>T - GATAD1(NM_021167.4):c.697C>T (p.R233W) - GATAD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.762G>A likely benign r.(?) p.(=) Unknown g.92085828G>A - GATAD1(NM_021167.4):c.762G>A (p.G254=) - GATAD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.762G>A benign r.(?) p.(=) Unknown g.92085828G>A - GATAD1(NM_021167.4):c.762G>A (p.G254=) - GATAD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.762G>A likely benign r.(?) p.(=) Unknown g.92085828G>A - GATAD1(NM_021167.4):c.762G>A (p.G254=) - GATAD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770C>T likely benign r.(?) p.(Pro257Leu) Unknown g.92085836C>T - - - GATAD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*46G>A likely benign r.(=) p.(=) Unknown g.92085922G>A - GATAD1(NM_021167.4):c.*46G>A - GATAD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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