ClinVar for MedGen (Select 184926) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708339	NM_001282717.2(STAG3):c.2734A>T (p.Thr912Ser)	STAG3 (T854S +1 more)	Single nucleotide variant (missense variant)	Hypergonadotropic hypogonadism	GUncertain significance
Select item 1708338	NM_001282717.2(STAG3):c.623A>G (p.Tyr208Cys)	STAG3 (Y150C +1 more)	Single nucleotide variant (missense variant)	Hypergonadotropic hypogonadism	GUncertain significance
Select item 1708284	NM_023110.3(FGFR1):c.287C>G (p.Ser96Cys)	FGFR1 (S129C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 813841	GRCh37/hg19 5p15.31(chr5:7952706-9108420)x1	SEMA5A	Copy number loss	Anophthalmia +1 more	GUncertain significance
Select item 459644	NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe)	SRD5A2 (Y235F)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GPathogenic
Select item 336473	NM_001198593.2(STON1-GTF2A1L):c.3442-20551C>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Hypergonadotropic hypogonadism +3 more	GBenign
Select item 336472	NM_000233.4(LHCGR):c.54G>A (p.Gln18=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GConflicting classifications of pathogenicity
Select item 336471	NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup)	LHCGR, STON1-GTF2A1L	Duplication (inframe_insertion +1 more)	not provided +4 more	GBenign
Select item 336470	NM_000233.4(LHCGR):c.81G>A (p.Glu27=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Hypergonadotropic hypogonadism +2 more	GConflicting classifications of pathogenicity
Select item 336469	NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)	LHCGR, STON1-GTF2A1L (Y113N)	Single nucleotide variant (missense variant +1 more)	LHCGR-related condition +5 more	GConflicting classifications of pathogenicity
Select item 336468	NM_000233.4(LHCGR):c.378A>C (p.Lys126Asn)	LHCGR, STON1-GTF2A1L (K126N)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +2 more	GLikely benign
Select item 336467	NM_000233.4(LHCGR):c.384-15T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Leydig cell agenesis +2 more	GUncertain significance
Select item 336466	NM_000233.4(LHCGR):c.430G>A (p.Val144Ile)	LHCGR, STON1-GTF2A1L (V144I)	Single nucleotide variant (missense variant +1 more)	Hypergonadotropic hypogonadism +3 more	GConflicting classifications of pathogenicity
Select item 336465	NM_000233.4(LHCGR):c.606-5C>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 336464	NM_000233.4(LHCGR):c.610C>T (p.Leu204=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign/Likely benign
Select item 336463	NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr)	LHCGR, STON1-GTF2A1L (A271T)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +2 more	GUncertain significance
Select item 336462	NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser)	LHCGR, STON1-GTF2A1L (L337S)	Single nucleotide variant (missense variant +1 more)	Hypergonadotropic hypogonadism +3 more	GBenign/Likely benign
Select item 336461	NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)	LHCGR, STON1-GTF2A1L (V454I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 336460	NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)	LHCGR, STON1-GTF2A1L (E557K)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +3 more	GBenign/Likely benign
Select item 336459	NM_000233.4(LHCGR):c.1875A>T (p.Ile625=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign/Likely benign
Select item 336458	NM_000233.4(LHCGR):c.2002A>C (p.Thr668Pro)	LHCGR, STON1-GTF2A1L (T668P)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity +2 more	GConflicting classifications of pathogenicity
Select item 336457	NM_000233.4(LHCGR):c.*7C>T	STON1-GTF2A1L, LHCGR	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +2 more	GConflicting classifications of pathogenicity
Select item 336456	NM_000233.4(LHCGR):c.*131C>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign/Likely benign
Select item 336455	NM_000233.4(LHCGR):c.*148T>C	STON1-GTF2A1L, LHCGR	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign
Select item 336454	NM_000233.4(LHCGR):c.*221G>C	STON1-GTF2A1L, LHCGR	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign
Select item 336453	NM_000233.4(LHCGR):c.*273T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +2 more	GUncertain significance
Select item 336452	NM_000233.4(LHCGR):c.*281del	LHCGR, STON1-GTF2A1L	Deletion (3 prime UTR variant +1 more)	Leydig cell agenesis +2 more	GLikely benign
Select item 336451	NM_000233.4(LHCGR):c.*300T>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +2 more	GUncertain significance
Select item 336450	NM_000233.4(LHCGR):c.*360G>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign
Select item 336449	NM_000233.4(LHCGR):c.*383C>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +2 more	GUncertain significance
Select item 336448	NM_000233.4(LHCGR):c.*528T>C	STON1-GTF2A1L, LHCGR	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign
Select item 336447	NM_000233.4(LHCGR):c.*535G>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +2 more	GBenign/Likely benign
Select item 336446	NM_000233.4(LHCGR):c.*577T>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +2 more	GConflicting classifications of pathogenicity
Select item 336445	NM_000233.4(LHCGR):c.*724T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +2 more	GUncertain significance
Select item 255609	NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser)	LHCGR, STON1-GTF2A1L (N312S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 255608	NM_000233.4(LHCGR):c.866+8G>A	STON1-GTF2A1L, LHCGR	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255607	NM_000233.4(LHCGR):c.1065T>C (p.Asp355=)	STON1-GTF2A1L, LHCGR	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 138116	NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser)	LHCGR, STON1-GTF2A1L (N291S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 36469	NM_000233.4(LHCGR):c.458+3A>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 39