GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GNRHR N10Kinsufficiently evaluated pathogenicunknown

(39 web hits)

GNRHR E90Kinsufficiently evaluated pathogenicunknown

(58 web hits)

GNRHR Q106Rpathogenic, f=0.003recessive

Hypothesized as causing hypogonadotropic hypogonadism in a recessive manner, but there is no statistically significant enrichment for this variant in cases reported.

(88 web hits)

CGI sample GS01175-DNA_A04 from PGP sample 13272228
GNRHR A129Dinsufficiently evaluated pathogenicunknown

(30 web hits)

GNRHR R139Hpathogenic, f=0.000recessive

Reported to cause hypogonadotropic hypogonadism in a recessive manner, and is reported by ClinVar where it has been reported by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000030914/). This report comes from Costa et al 2001 (PMID: 11397871), who studied 14 familias and saw this homozygous in one patient. In ExAC data this is rare; 1 in 3000 are carriers for this variant.

(13 web hits)

GNRHR S168Rinsufficiently evaluated pathogenicunknown

(28 web hits)

GNRHR A171Tinsufficiently evaluated pathogenic, f=0.000unknown

(13 web hits)

GNRHR S217Rinsufficiently evaluated pathogenicunknown

(18 web hits)

GNRHR R262Qinsufficiently evaluated pathogenic, f=0.001unknown

(87 web hits)

GNRHR Y284Cinsufficiently evaluated pathogenicunknown

(21 web hits)

GNRHR L314Xinsufficiently evaluated pathogenicunknown

(62 web hits)

GNRHR P320Linsufficiently evaluated pathogenicunknown

(21 web hits)

GNRHR2 M1Kinsufficiently evaluated not reviewed, f=0.016unknown var-GS19701-1100-36-ASM
GNRHR2 R51Ginsufficiently evaluated not reviewedunknown hu3215A7 build 36 substitution variants
hu728FFF build 36 substitution variants
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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