ClinVar for MedGen (Select 347328) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1452079	NM_001083111.2(GNRH1):c.92G>A (p.Arg31His)	GNRH1 (R31H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 911829	NM_001083111.2(GNRH1):c.210T>A (p.Ser70=)	GNRH1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 909739	NM_000825.3(GNRH1):c.-1624G>A	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 909738	NM_000825.3(GNRH1):c.-1316C>T	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 908880	NM_000825.3(GNRH1):c.-1198G>A	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 908879	NM_000825.3(GNRH1):c.-984C>G	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 908878	NM_001083111.2(GNRH1):c.-2+59G>T	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 788272	NM_001083111.2(GNRH1):c.183C>T (p.Phe61=)	GNRH1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 12 with or without anosmia +1 more	GBenign
Select item 734969	NM_001083111.2(GNRH1):c.141G>C (p.Glu47Asp)	GNRH1 (E47D +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 12 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 362659	NM_001083111.2(GNRH1):c.-2+5A>C	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GLikely benign
Select item 362658	NM_001083111.2(GNRH1):c.-2+194C>A	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 362657	NM_001083111.2(GNRH1):c.-2+388T>C	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GLikely benign
Select item 362655	NM_001083111.2(GNRH1):c.-1-140G>A	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 362654	NM_001083111.2(GNRH1):c.-1-110A>G	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 362652	NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser)	GNRH1 (W16S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 362651	NM_001083111.2(GNRH1):c.177A>G (p.Gln59=)	GNRH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362650	NM_001083111.2(GNRH1):c.237+8A>C	GNRH1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362649	NM_001083111.2(GNRH1):c.238-12T>C	GNRH1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 14417	NM_001083111.2(GNRH1):c.18dup (p.Leu7fs)	GNRH1 (L11fs +1 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GPathogenic