Gonadotropin releasing hormone associated peptide - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156560	NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro)	PROK2 (A24P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 4 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
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
Select item 9121	NM_033163.5(FGF8):c.40C>A (p.His14Asn)	FGF8 (H14N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 6 with or without anosmia	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 15927	NM_000516.7(GNAS):c.1A>G (p.Met1Val)	GNAS (M1V)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism +8 more	GPathogenic/Likely pathogenic