"GeneDx"[submitter] AND "GNRHR"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 1188166	NM_000406.3(GNRHR):c.*78G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1722804	NM_000406.3(GNRHR):c.868T>C (p.Tyr290His)	GNRHR (V247A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301193	NM_000406.3(GNRHR):c.836G>A (p.Cys279Tyr)	GNRHR (C279Y)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 16024	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR (R262Q)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism +2 more	GPathogenic/Likely pathogenic
Select item 1259894	NM_000406.3(GNRHR):c.742+35C>T	GNRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310275	NM_000406.3(GNRHR):c.677T>C (p.Ile226Thr)	GNRHR (I226T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 349454	NM_000406.3(GNRHR):c.648C>T (p.Phe216=)	GNRHR	Single nucleotide variant (synonymous variant +1 more)	GNRHR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 379859	NM_000406.3(GNRHR):c.633T>A (p.Tyr211Ter)	GNRHR (Y211*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 349456	NM_000406.3(GNRHR):c.453C>T (p.Ser151=)	GNRHR	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GBenign
Select item 449413	NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)	GNRHR (P146S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 1304993	NM_000406.3(GNRHR):c.430A>C (p.Thr144Pro)	GNRHR (T144P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16030	NM_000406.3(GNRHR):c.416G>A (p.Arg139His)	GNRHR (R139H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 418236	NM_000406.3(GNRHR):c.413A>G (p.Asp138Gly)	GNRHR (D138G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 16023	NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	GNRHR (Q106R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 16032	NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys)	GNRHR (E90K)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 451078	NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys)	GNRHR (W63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785094	NM_000406.3(GNRHR):c.144C>G (p.Leu48=)	GNRHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 189195	NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys)	GNRHR	Indel (missense variant)	not provided	GPathogenic
Select item 904873	NM_000406.3(GNRHR):c.-8G>A	GNRHR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 349457	NM_000406.2(GNRHR):c.-62G>A	GNRHR	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 349460	NM_000406.2(GNRHR):c.-224A>G	GNRHR	Single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign
Select item 349482	NM_000406.2(GNRHR):c.-1497C>T	GNRHR	Single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign
Select item 349483	NM_000406.2(GNRHR):c.-1542delT	GNRHR	Deletion	Isolated GnRH Deficiency +1 more	GBenign/Likely benign
Select item 349485	NM_000406.2(GNRHR):c.-1570C>G	GNRHR	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 1232284	NC_000004.12:g.67756228_67756237del	GNRHR	Deletion	not provided	GBenign
Select item 1205418	NC_000004.12:g.67756240dup	GNRHR	Duplication	not provided	GLikely benign

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Items: 28