Full data view for gene GEMIN4

Information The variants shown are described using the NM_015721.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.195G>A r.(?) p.(Trp65Ter) Unknown - pathogenic g.651088C>T - - - GEMIN4_000006 - - - rs1431402585 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.314C>T r.(?) p.(Pro105Leu) Both (homozygous) ACMG likely pathogenic (recessive) g.650969G>A g.747729G>A - - GEMIN4_000005 ACMG PS1, PM2, PP1 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 17-3434 PubMed: Maddirevula 2019 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.314C>T r.(?) p.(Pro105Leu) Both (homozygous) - likely pathogenic (recessive) g.650969G>A g.747729G>A - - GEMIN4_000005 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 14DG2265 PubMed: Patel 2017 simplex case - - - - - - - - 2 Johan den Dunnen
?/. - c.398C>A r.(?) p.(Pro133His) Unknown - VUS g.650885G>T - GEMIN4(NM_015721.3):c.398C>A (p.(Pro133His)) - FAM57A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>A r.(?) p.(Glu166Lys) Unknown - VUS g.650787C>T - GEMIN4(NM_015721.3):c.496G>A (p.(Glu166Lys)) - FAM57A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.544T>C r.(?) p.(Phe182Leu) Unknown - likely benign g.650739A>G g.747499A>G GEMIN4(NM_015721.2):c.544T>C (p.(Phe182Leu)) - FAM57A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.639G>A r.(?) p.(Met213Ile) Unknown - VUS g.650644C>T g.747404C>T GEMIN4(NM_015721.2):c.639G>A (p.(Met213Ile)) - GEMIN4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.985G>A r.(?) p.(Glu329Lys) Unknown - likely benign g.650298C>T - GEMIN4(NM_015721.3):c.985G>A (p.(Glu329Lys)) - FAM57A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1580A>G r.(?) p.(Asn527Ser) Unknown - VUS g.649703T>C - GEMIN4(NM_015721.3):c.1580A>G (p.(Asn527Ser)) - FAM57A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1596G>C r.(?) p.(Gln532His) Unknown - likely benign g.649687C>G g.746447C>G GEMIN4(NM_015721.2):c.1596G>C (p.Q532H) - FAM57A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1667A>G r.(?) p.(His556Arg) Unknown - VUS g.649616T>C g.746376T>C GEMIN4(NM_015721.2):c.1667A>G (p.(His556Arg)) - GEMIN4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2005C>T r.(?) p.(Leu669Phe) Unknown - VUS g.649278G>A - GEMIN4(NM_015721.2):c.2005C>T (p.L669F) - FAM57A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2346C>G r.(?) p.(Phe782Leu) Unknown - likely benign g.648937G>C g.745697G>C GEMIN4(NM_015721.2):c.2346C>G (p.(Phe782Leu)) - FAM57A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2452T>C r.(?) p.(Trp818Arg) Both (homozygous) - likely pathogenic (recessive) g.648831A>G g.745591A>G - - GEMIN4_000004 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam08DG00485 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 2 Johan den Dunnen
+?/. - c.2452T>C r.(?) p.(Trp818Arg) Both (homozygous) - likely pathogenic (recessive) g.648831A>G g.745591A>G - - GEMIN4_000004 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam10DG0703 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - 2 Johan den Dunnen
+?/. - c.2452T>C r.(?) p.(Trp818Arg) Both (homozygous) - likely pathogenic (recessive) g.648831A>G g.745591A>G - - GEMIN4_000004 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam13DG1542 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 3 Johan den Dunnen
+?/. - c.2452T>C r.(?) p.(Trp818Arg) Both (homozygous) ACMG likely pathogenic g.648831A>G g.745591A>G - - GEMIN4_000004 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 08DG00485 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.2452T>C r.(?) p.(Trp818Arg) Both (homozygous) - likely pathogenic (recessive) g.648831A>G g.745591A>G - - GEMIN4_000004 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG0703 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+?/. - c.2452T>C r.(?) p.(Trp818Arg) Both (homozygous) - likely pathogenic (recessive) g.648831A>G g.745591A>G - - GEMIN4_000004 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 11DG2480 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+?/. - c.2452T>C r.(?) p.(Trp818Arg) Both (homozygous) - likely pathogenic (recessive) g.648831A>G g.745591A>G - - GEMIN4_000004 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 13DG1542 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
?/. - c.2505_2506del r.(?) p.(Leu836Glyfs*8) Unknown - VUS g.648782_648783del - GEMIN4(NM_015721.3):c.2505_2506del (p.(Leu836Glyfs*8)) - FAM57A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2526T>G r.(?) p.(Asn842Lys) Unknown - VUS g.648757A>C - GEMIN4(NM_015721.3):c.2526T>G (p.(Asn842Lys)) - FAM57A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2821A>C r.(?) p.(Lys941Gln) Unknown - likely benign g.648462T>G - GEMIN4(NM_015721.2):c.2821A>C (p.K941Q) - FAM57A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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