Full data view for gene TIAM1

Information The variants shown are described using the NM_003253.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.-369+25463C>G r.(=) p.(=) Both (homozygous) - VUS g.32810833G>C g.31438520G>C - - TIAM1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.11C>T r.(?) p.(Ala4Val) Unknown - VUS g.32639278G>A - TIAM1(NM_003253.3):c.11C>T (p.A4V) - TIAM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.67C>T r.(?) p.(Arg23Cys) Paternal (confirmed) - pathogenic (recessive) g.32639222G>A g.31266906G>A - - TIAM1_000007 - PubMed: Lu 2022, Journal: Lu 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1a PubMed: Lu 2022, Journal: Lu 2022 4-generation family, 4 affected (4M), monozygotis twins, unaffected heterozygous carrier parents/relatives M no - - - - - - 4 Johan den Dunnen
+/. - c.67C>T r.(?) p.(Arg23Cys) Paternal (confirmed) - pathogenic (recessive) g.32639222G>A g.31266906G>A - - TIAM1_000007 - PubMed: Lu 2022, Journal: Lu 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1b PubMed: Lu 2022, Journal: Lu 2022 monozygotic twin Pat1a M no - - - - - - 1 Johan den Dunnen
?/. - c.67C>T r.(?) p.(Arg23Cys) Unknown - VUS g.32639222G>A - TIAM1(NM_001353694.2):c.67C>T (p.(Arg23Cys)) - TIAM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278G>A r.(?) p.(Arg93Gln) Unknown - VUS g.32639011C>T - NM_003253:c.G278A (R93Q) - TIAM1_000011 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0091 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.610G>A r.(?) p.(Glu204Lys) Unknown - VUS g.32638679C>T - TIAM1(NM_003253.3):c.610G>A (p.E204K) - TIAM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.750G>C r.(?) p.(Gly250=) Unknown - likely benign g.32638539C>G g.31266223C>G TIAM1(NM_003253.3):c.750G>C (p.G250=) - TIAM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.936G>A r.(?) p.(Met312Ile) Unknown - VUS g.32638353C>T - TIAM1(NM_003253.2):c.936G>A (p.(Met312Ile)) - TIAM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.983G>T r.(?) p.(Gly328Val) Both (homozygous) - pathogenic (recessive) g.32624486C>A g.31252170C>A - - TIAM1_000006 - PubMed: Lu 2022, Journal: Lu 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Lu 2022, Journal: Lu 2022 4-generation family, 3 affected (F,2M), unaffected heterozygous carrier parents/relatives M yes - - - - - - 3 Johan den Dunnen
+/. - c.1144G>C r.(?) p.(Gly382Arg) Paternal (confirmed) - pathogenic (recessive) g.32624325C>G g.31252009C>G - - TIAM1_000005 - PubMed: Lu 2022, Journal: Lu 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Lu 2022, Journal: Lu 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no - - - - - - 1 Johan den Dunnen
?/. - c.1155G>C r.(?) p.(Glu385Asp) Unknown - VUS g.32624314C>G - TIAM1(NM_001353694.2):c.1155G>C (p.(Glu385Asp)) - TIAM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1391A>C r.(?) p.(His464Pro) Unknown ACMG VUS g.32624078T>G g.31251762T>G - - TIAM1_000010 ACMG: PS2_SUP, PM2_SUP, confirmed de novo in trio exome - VCV000425274.17 - De novo - - - - - DNA SEQ-NG-I Blood - ? 268802 - - F no Germany - - - - - 1 Andreas Laner
?/. - c.1441G>A r.(?) p.(Gly481Ser) Unknown - VUS g.32617947C>T - TIAM1(NM_003253.3):c.1441G>A (p.G481S) - TIAM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1512G>A r.(?) p.(Ala504=) Unknown - VUS g.32617876C>T g.31245560C>T TIAM1(NM_003253.3):c.1512G>A (p.A504=) - TIAM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2456T>A r.(?) p.(Leu819His) Unknown - likely benign g.32575261A>T - TIAM1(NM_003253.2):c.2456T>A (p.(Leu819His)) - TIAM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3842C>T r.(?) p.(Ser1281Leu) Unknown - VUS g.32508292G>A - TIAM1(NM_003253.3):c.3842C>T (p.S1281L) - TIAM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4640C>A r.(?) p.(Ala1547Glu) Both (homozygous) - pathogenic (recessive) g.32492822G>T g.31120504G>T - - TIAM1_000004 - PubMed: Lu 2022, Journal: Lu 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Lu 2022, Journal: Lu 2022 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M yes - - - - - - 3 Johan den Dunnen
?/. - c.4690G>A r.(?) p.(Gly1564Arg) Paternal (confirmed) ACMG VUS g.32492772C>T g.31120454C>T - - TIAM1_000009 ACMG: PM2_SUP, BP4 - - - Germline ? - - - - DNA SEQ-NG-I Blood - ? 268802 - - F no Germany - - - - - 1 Andreas Laner
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