ClinVar for MedGen (Select 87444) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1408739	NM_000233.4(LHCGR):c.26_43dup (p.Gln9_Leu14dup)	LHCGR, STON1-GTF2A1L	Duplication (inframe_insertion +1 more)	not provided +2 more	GUncertain significance
Select item 1184482	NM_000233.4(LHCGR):c.1573C>T (p.Gln525Ter)	STON1-GTF2A1L, LHCGR (Q525*)	Single nucleotide variant (nonsense +1 more)	Gonadotropin-independent familial sexual precocity	GLikely pathogenic
Select item 898641	NM_000233.4(LHCGR):c.1308G>A (p.Gly436=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 898586	NM_000233.4(LHCGR):c.*182T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 898585	NM_000233.4(LHCGR):c.*192T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +1 more	GUncertain significance
Select item 898511	NM_000233.4(LHCGR):c.*710A>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 898510	NM_000233.4(LHCGR):c.*747C>A	STON1-GTF2A1L, LHCGR	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 898509	NM_000233.4(LHCGR):c.*805A>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 897485	NM_000233.4(LHCGR):c.1375G>A (p.Val459Ile)	LHCGR, STON1-GTF2A1L (V459I)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 897484	NM_000233.4(LHCGR):c.1752T>C (p.Pro584=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Gonadotropin-independent familial sexual precocity +1 more	GConflicting classifications of pathogenicity
Select item 897354	NM_000233.4(LHCGR):c.*894G>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +1 more	GUncertain significance
Select item 897075	NM_000233.4(LHCGR):c.681-6G>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Leydig cell agenesis +1 more	GConflicting classifications of pathogenicity
Select item 897074	NM_000233.4(LHCGR):c.707C>T (p.Ala236Val)	LHCGR, STON1-GTF2A1L (A236V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897003	NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro)	LHCGR, STON1-GTF2A1L (L691P)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 896922	NM_000233.4(LHCGR):c.*414T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Gonadotropin-independent familial sexual precocity +1 more	GUncertain significance
Select item 896921	NM_000233.4(LHCGR):c.*443C>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 896920	NM_000233.4(LHCGR):c.*512C>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GConflicting classifications of pathogenicity
Select item 896009	NM_000233.4(LHCGR):c.-32C>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (5 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 896008	NM_000233.4(LHCGR):c.132C>T (p.Cys44=)	STON1-GTF2A1L, LHCGR	Single nucleotide variant (synonymous variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 895727	NM_000233.4(LHCGR):c.161+9A>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Leydig cell agenesis +4 more	GConflicting classifications of pathogenicity
Select item 895726	NM_000233.4(LHCGR):c.348C>T (p.Pro116=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 895725	NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln)	LHCGR, STON1-GTF2A1L (R124Q)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +1 more	GConflicting classifications of pathogenicity
Select item 895595	NM_000233.4(LHCGR):c.2095T>A (p.Cys699Ser)	LHCGR, STON1-GTF2A1L (C699S)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +1 more	GConflicting classifications of pathogenicity
Select item 895594	NM_000233.4(LHCGR):c.*22T>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GBenign/Likely benign
Select item 895518	NM_000233.4(LHCGR):c.*553A>T	STON1-GTF2A1L, LHCGR	Single nucleotide variant (3 prime UTR variant +1 more)	Leydig cell agenesis +1 more	GUncertain significance
Select item 827819	NM_000233.4(LHCGR):c.947+4_947+7del	LHCGR, STON1-GTF2A1L	Deletion (intron variant +1 more)	Gonadotropin-independent familial sexual precocity +1 more	GConflicting classifications of pathogenicity
Select item 733621	NM_000233.4(LHCGR):c.622G>A (p.Val208Ile)	STON1-GTF2A1L, LHCGR (V208I)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity +3 more	GBenign/Likely benign
Select item 712503	NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 710261	NM_000233.4(LHCGR):c.561A>G (p.Glu187=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 435750	NM_000233.4(LHCGR):c.2091A>T (p.Thr697=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Gonadotropin-independent familial sexual precocity +2 more	GConflicting classifications of pathogenicity
Select item 336473	NM_001198593.2(STON1-GTF2A1L):c.3442-20551C>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Leydig cell agenesis +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 74646	NM_000233.4(LHCGR):c.672G>A (p.Pro224=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Gonadotropin-independent familial sexual precocity +2 more	GConflicting classifications of pathogenicity
Select item 36470	NM_000233.4(LHCGR):c.605+52del	LHCGR, STON1-GTF2A1L	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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
Select item 36468	NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr)	LHCGR, STON1-GTF2A1L (D578Y)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity	GLikely pathogenic
Select item 14412	NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly)	LHCGR, STON1-GTF2A1L (D564G)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity +1 more	GPathogenic
Select item 14408	NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg)	LHCGR, STON1-GTF2A1L (L457R)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity	GPathogenic
Select item 14407	NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val)	LHCGR, STON1-GTF2A1L (A568V)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity	GPathogenic
Select item 14406	NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)	LHCGR, STON1-GTF2A1L (L368P)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity	GPathogenic
Select item 14402	NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu)	LHCGR, STON1-GTF2A1L (I542L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 14397	NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val)	LHCGR, STON1-GTF2A1L (A373V)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity	GPathogenic
Select item 14394	NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)	LHCGR, STON1-GTF2A1L (M398T)	Single nucleotide variant (missense variant +1 more)	Precocious puberty in males +1 more	GPathogenic/Likely pathogenic
Select item 14391	NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter)	LHCGR, STON1-GTF2A1L (C545*)	Single nucleotide variant (nonsense +1 more)	Leydig cell agenesis +2 more	GPathogenic/Likely pathogenic
Select item 14390	NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val)	LHCGR, STON1-GTF2A1L (A572V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 14389	NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile)	LHCGR, STON1-GTF2A1L (T577I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 14385	NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile)	LHCGR, STON1-GTF2A1L (M571I)	Single nucleotide variant (missense variant +1 more)	Gonadotropin-independent familial sexual precocity	GPathogenic
Select item 14384	NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)	LHCGR, STON1-GTF2A1L (D578G)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +2 more	GPathogenic

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Items: 79