Unique variants in gene GATAD1

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.24C>T r.(?) p.(Thr8=) - likely benign g.92077067C>T g.92447753C>T GATAD1(NM_021167.4):c.24C>T (p.T8=) - GATAD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.48G>A r.(?) p.(Ser16=) - likely benign g.92077091G>A g.92447777G>A GATAD1(NM_021167.4):c.48G>A (p.S16=) - GATAD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.159G>A r.(?) p.(Gly53=) - likely benign g.92077202G>A g.92447888G>A - - GATAD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.160G>A r.(?) p.(Gly54Ser) - benign g.92077203G>A g.92447889G>A GATAD1(NM_021167.4):c.160G>A (p.G54S) - GATAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/., ?/. 3 - c.175_177dup r.(?) p.(Gly59dup) - likely benign g.92077218_92077220dup g.92447904_92447906dup GATAD1(NM_021167.4):c.175_177dupGGC (p.G59dup) - GATAD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.249+11C>G r.(=) p.(=) - likely benign g.92077303C>G g.92447989C>G GATAD1(NM_021167.4):c.249+11C>G - GATAD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.249+15C>T r.(=) p.(=) - likely benign g.92077307C>T g.92447993C>T GATAD1(NM_021167.4):c.249+15C>T - GATAD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.285C>G r.(?) p.(Leu95=) - likely benign g.92078101C>G g.92448787C>G GATAD1(NM_021167.4):c.285C>G (p.L95=) - GATAD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.291C>T r.(?) p.(Asn97=) - likely benign g.92078107C>T g.92448793C>T GATAD1(NM_021167.4):c.291C>T (p.N97=) - GATAD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.321A>G r.(?) p.(Glu107=) - likely benign g.92078137A>G g.92448823A>G - - GATAD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.404C>T r.(?) p.(Thr135Ile) - VUS g.92080043C>T g.92450729C>T GATAD1(NM_021167.4):c.404C>T (p.T135I) - GATAD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.558G>A r.(?) p.(Thr186=) - benign, likely benign g.92083938G>A g.92454624G>A GATAD1(NM_021167.4):c.558G>A (p.T186=) - GATAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.619+17G>A r.(=) p.(=) - likely benign g.92084016G>A g.92454702G>A GATAD1(NM_021167.4):c.619+17G>A - GATAD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.697C>T r.(?) p.(Arg233Trp) - benign g.92085763C>T g.92456449C>T GATAD1(NM_021167.4):c.697C>T (p.R233W) - GATAD1_000004 20 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs34768413 Germline, CLASSIFICATION record - 20/2794 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
-?/., -/. 3 - c.762G>A r.(?) p.(Gly254=) - likely benign, benign g.92085828G>A g.92456514G>A GATAD1(NM_021167.4):c.762G>A (p.G254=) - GATAD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/., -?/. 2 - c.770C>T r.(?) p.(Pro257Leu) - VUS, likely benign g.92085836C>T g.92456522C>T GATAD1(NM_021167.4):c.770C>T (p.P257L) - GATAD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.*46G>A r.(=) p.(=) - likely benign g.92085922G>A g.92456608G>A GATAD1(NM_021167.4):c.*46G>A - GATAD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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