Full data view for gene GNRHR

Information The variants shown are described using the NM_000406.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.22G>A r.(?) p.(Glu8Lys) Unknown - VUS g.68620032C>T g.67754314C>T - - GNRHR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.30T>A r.(?) p.(Asn10Lys) Unknown - pathogenic g.68620024A>T - - - GNRHR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.30_31delinsAA r.(?) p.(Asn10_Gln11delinsLysLys) Unknown - pathogenic g.68620023_68620024delinsTT - - - GNRHR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.31C>A r.(?) p.(Gln11Lys) Unknown - pathogenic g.68620023G>T - - - GNRHR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.68619905G>A g.67754187G>A GNRHR(NM_000406.3):c.149C>T (p.A50V) - GNRHR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187T>C r.(?) p.(Trp63Arg) Unknown - likely benign g.68619867A>G - GNRHR(NM_000406.2):c.187T>C (p.W63R), GNRHR(NM_000406.3):c.187T>C (p.(Trp63Arg)) - GNRHR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187T>C r.(?) p.(Trp63Arg) Unknown - VUS g.68619867A>G - GNRHR(NM_000406.2):c.187T>C (p.W63R), GNRHR(NM_000406.3):c.187T>C (p.(Trp63Arg)) - GNRHR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.272C>T r.(?) p.(Thr91Ile) Unknown - likely pathogenic g.68619782G>A - - - GNRHR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.278T>A r.(?) p.(Ile93Asn) Unknown - likely pathogenic g.68619776A>T - - - GNRHR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.317A>G r.(?) p.(Gln106Arg) Unknown - pathogenic g.68619737T>C g.67754019T>C - - GNRHR_000002 - - - rs104893836 Germline ? - - - - DNA SEQ-NG-IT - - ANI - - - M ? Israel Jewish - - - - 1 Anna Alkelai
+/. - c.317A>G r.(?) p.(Gln106Arg) Unknown - pathogenic g.68619737T>C g.67754019T>C GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R) - GNRHR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.317A>G r.(?) p.(Gln106Arg) Unknown - pathogenic g.68619737T>C g.67754019T>C GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R) - GNRHR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.317A>G r.(?) p.(Gln106Arg) Unknown - pathogenic g.68619737T>C g.67754019T>C GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R) - GNRHR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.317A>G r.(?) p.(Gln106Arg) Unknown - pathogenic g.68619737T>C - GNRHR(NM_000406.2):c.317A>G (p.Q106R), GNRHR(NM_000406.3):c.317A>G (p.(Gln106Arg), p.Q106R) - GNRHR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.392T>C r.(?) p.(Met131Thr) Unknown - likely pathogenic g.68619662A>G g.67753944A>G - - GNRHR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.416G>A r.(?) p.(Arg139His) Unknown - pathogenic g.68619638C>T g.67753920C>T GNRHR(NM_000406.2):c.416G>A (p.R139H) - GNRHR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.416G>A r.(?) p.(Arg139His) Unknown - pathogenic g.68619638C>T g.67753920C>T GNRHR(NM_000406.2):c.416G>A (p.R139H) - GNRHR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.416G>A r.(?) p.(Arg139His) Parent #1 - pathogenic g.68619638C>T g.67753920C>T - - GNRHR_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893842 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.436C>T r.(?) p.(Pro146Ser) Unknown - VUS g.68619618G>A g.67753900G>A - - GNRHR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453C>T r.(?) p.(Ser151=) Unknown - benign g.68619601G>A g.67753883G>A - - GNRHR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.586T>A r.(?) p.(Cys196Ser) Unknown - likely pathogenic g.68610442A>T g.67744724A>T - - GNRHR_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - HH7 - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.768C>T r.(?) p.(Asn256=) Unknown - pathogenic g.68606417G>A g.67740699G>A GNRHR(NM_001012763.1):c.640C>T (p.Q214*) - GNRHR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - pathogenic g.68606400C>T g.67740682C>T GNRHR(NM_000406.3):c.785G>A (p.(Arg262Gln), p.R262Q) - GNRHR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.785G>A r.(?) p.(Arg262Gln) Both (homozygous) - pathogenic g.68606400C>T g.67740682C>T - 46,XY GNRHR_000007 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat253 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.785G>A r.(?) p.(Arg262Gln) Parent #1 - pathogenic g.68606400C>T g.67740682C>T - - GNRHR_000007 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893837 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
+/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - pathogenic g.68606400C>T - GNRHR(NM_000406.3):c.785G>A (p.(Arg262Gln), p.R262Q) - GNRHR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - pathogenic g.68606400C>T - GNRHR(NM_000406.3):c.785G>A (p.(Arg262Gln), p.R262Q) - GNRHR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.808G>A r.(?) p.(Val270Ile) Unknown - likely benign g.68606377C>T - GNRHR(NM_000406.2):c.808G>A (p.V270I) - GNRHR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.836G>A r.(?) p.(Cys279Tyr) Unknown - pathogenic g.68606349C>T g.67740631C>T - - GNRHR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887T>A r.(?) p.(Met296Lys) Unknown - VUS g.68606298A>T g.67740580A>T - - GNRHR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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