Full data view for gene GDI1

Information The variants shown are described using the NM_001493.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-99760_*1051410dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.-95193_*190089dup r.0? p.0? Maternal (inferred) - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.-4905G>A r.(?) p.(=) Unknown - likely benign g.153660696G>A g.154432350G>A ATP6AP1(NM_001183.5):c.448G>A (p.(Glu150Lys)) - GDI1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4814G>A r.(?) p.(=) Unknown - VUS g.153660787G>A g.154432441G>A ATP6AP1(NM_001183.5):c.539G>A (p.(Arg180His)) - ATP6AP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1922G>A r.(?) p.(=) Unknown - likely benign g.153663679G>A g.154435333G>A ATP6AP1(NM_001183.5):c.1031G>A (p.R344H) - GDI1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1917G>A r.(?) p.(=) Unknown - likely pathogenic g.153663684G>A g.154435338G>A - - GDI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1889A>T r.(?) p.(=) Unknown - likely benign g.153663712A>T - ATP6AP1(NM_001183.5):c.1064A>T (p.Y355F) - GDI1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1791A>C r.(?) p.(=) Unknown - benign g.153663810A>C g.154435464A>C ATP6AP1(NM_001183.5):c.1162A>C (p.T388P) - GDI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1784C>T r.(?) p.(=) Unknown - VUS g.153663817C>T g.154435471C>T ATP6AP1(NM_001183.5):c.1169C>T (p.(Pro390Leu)) - ATP6AP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1758G>A r.(?) p.(=) Unknown - likely benign g.153663843G>A g.154435497G>A ATP6AP1(NM_001183.5):c.1195G>A (p.D399N) - GDI1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1380T>C r.(?) p.(=) Unknown - VUS g.153664221T>C g.154435875T>C ATP6AP1(NM_001183.5):c.1397T>C (p.(Leu466Ser)) - ATP6AP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.136A>G r.(?) p.(Ile46Val) Maternal (confirmed) ACMG VUS g.153666959A>G - - - GDI1_000031 ACMG: PM2_SUP, PP2, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - MRX41 179887 - - M no Germany - - 0 - - 1 Andreas Laner
-?/. - c.154-3C>T r.spl? p.? Unknown - likely benign g.153667108C>T g.154438762C>T GDI1(NM_001493.3):c.154-3C>T - GDI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.219T>C r.(?) p.(Asn73=) Unknown - benign g.153667176T>C g.154438830T>C GDI1(NM_001493.3):c.219T>C (p.N73=) - GDI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Pro78=) Unknown - likely benign g.153667191C>T - GDI1(NM_001493.2):c.234C>T (p.P78=) - GDI1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271C>G r.(?) p.(Leu91Val) Unknown - VUS g.153667369C>G - GDI1(NM_001493.2):c.271C>G (p.L91V) - GDI1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338G>C r.(?) p.(Gly113Ala) Unknown - likely benign g.153667436G>C g.154439090G>C GDI1(NM_001493.2):c.338G>C (p.G113A) - GDI1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389-266del r.(=) p.(=) Maternal (inferred) - VUS g.153668022del g.154439675del - - GDI1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.389-266del r.(=) p.(=) Maternal (inferred) - VUS g.153668022del g.154439675del - - GDI1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.389-116A>G r.(=) p.(=) Maternal (inferred) - VUS g.153668172A>G g.154439825= - - GDI1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.389-116A>G r.(=) p.(=) Maternal (inferred) - VUS g.153668172A>G g.154439825= - - GDI1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.558C>T r.(?) p.(Gly186=) Unknown - likely benign g.153668457C>T g.154440110C>T GDI1(NM_001493.2):c.558C>T (p.G186=) - GDI1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696C>T r.(?) p.(Gly232=) Unknown - likely benign g.153668830C>T g.154440483C>T GDI1(NM_001493.3):c.696C>T (p.G232=) - GDI1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714T>C r.(?) p.(Phe238=) Unknown - likely benign g.153668848T>C g.154440501T>C GDI1(NM_001493.2):c.714T>C (p.F238=) - GDI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.869G>A r.(?) p.(Arg290His) Unknown - VUS g.153670019G>A g.154441672G>A GDI1(NM_001493.2):c.869G>A (p.(Arg290His)) - GDI1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1008G>A r.(?) p.(Met336Ile) Unknown - VUS g.153670474G>A g.154442127G>A GDI1(NM_001493.2):c.1008G>A (p.(Met336Ile)) - GDI1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1105G>C r.(?) p.(Ala369Pro) Unknown - likely pathogenic g.153670571G>C g.154442224G>C - - GDI1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1120G>C r.(?) p.(Glu374Gln) Unknown - likely benign g.153670586G>C g.154442239G>C GDI1(NM_001493.2):c.1120G>C (p.E374Q) - GDI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1182T>C r.(?) p.(Cys394=) Unknown - likely benign g.153670766T>C g.154442419T>C GDI1(NM_001493.2):c.1182T>C (p.C394=) - GDI1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1186_1187del r.(?) p.(Ser396Profs*15) Maternal (confirmed) - pathogenic g.153670770_153670771del g.154442423_154442424del GDI1 S396Pfs*15 - GDI1_000012 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD101 PubMed: Hu 2016 family, 7 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - 7 Johan den Dunnen
?/. - c.1246G>A r.(?) p.(Asp416Asn) Unknown - VUS g.153670921G>A - GDI1(NM_001493.2):c.1246G>A (p.D416N) - GDI1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1251C>G r.(?) p.(Ile417Met) Unknown - VUS g.153670926C>G g.154442579C>G - - GDI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282G>A r.(?) p.(Ala428Thr) Unknown - likely benign g.153670957G>A - GDI1(NM_001493.2):c.1282G>A (p.A428T) - GDI1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323C>T r.(?) p.(Val441=) Unknown - likely benign g.153670998C>T - GDI1(NM_001493.2):c.1323C>T (p.V441=) - GDI1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3767A>G r.(=) p.(=) Unknown - likely benign g.153674786A>G - FAM50A(NM_004699.3):c.320A>G (p.(Lys107Arg)) - GDI1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3857C>T r.(=) p.(=) Unknown - likely benign g.153674876C>T g.154446528C>T FAM50A(NM_004699.3):c.410C>T (p.(Ala137Val)) - FAM50A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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