LHCGR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 153714	GRCh38/hg38 2p16.3(chr2:48543380-49241978)x3	FSHR, GTF2A1L +10 more	Copy number gain	See cases	GUncertain significance
Select item 154470	GRCh38/hg38 2p16.3(chr2:48581695-49195508)x3	FSHR, GTF2A1L +10 more	Copy number gain	See cases	GLikely benign
Select item 151770	GRCh38/hg38 2p16.3(chr2:48634764-48761441)x0	GTF2A1L, LHCGR +3 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1189231	NM_000233.4(LHCGR):c.*53dup	LHCGR, STON1-GTF2A1L	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 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 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 2221494	NM_000233.4(LHCGR):c.2065G>A (p.Ala689Thr)	LHCGR, STON1-GTF2A1L (A689T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 745575	NM_000233.4(LHCGR):c.1971A>G (p.Ser657=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 2068226	NM_000233.4(LHCGR):c.1936C>T (p.Arg646Cys)	LHCGR, STON1-GTF2A1L (R646C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174854	NM_000233.4(LHCGR):c.1916G>A (p.Ser639Asn)	LHCGR, STON1-GTF2A1L (S639N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely 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 14400	NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys)	LHCGR, STON1-GTF2A1L (I625K)	Single nucleotide variant (missense variant +1 more)	Leydig cell hypoplasia, type II	GPathogenic
Select item 2721175	NM_000233.4(LHCGR):c.1869T>C (p.Tyr623=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 492759	NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter)	LHCGR, STON1-GTF2A1L (Y623*)	Single nucleotide variant (nonsense +1 more)	Leydig cell agenesis	GPathogenic
Select item 1502568	NM_000233.4(LHCGR):c.1868A>C (p.Tyr623Ser)	LHCGR, STON1-GTF2A1L (Y623S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431493	NM_000233.4(LHCGR):c.1864C>A (p.Leu622Met)	LHCGR, STON1-GTF2A1L (L622M)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	GUncertain significance
Select item 14393	NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)	LHCGR, STON1-GTF2A1L (S616Y)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +1 more	GPathogenic/Likely pathogenic
Select item 14399	NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del)	STON1-GTF2A1L, LHCGR	Deletion (inframe_deletion +1 more)	Leydig cell agenesis +1 more	GPathogenic
Select item 2621223	NM_000233.4(LHCGR):c.1819T>G (p.Leu607Val)	LHCGR, STON1-GTF2A1L (L607V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2017845	NM_000233.4(LHCGR):c.1805C>T (p.Thr602Ile)	LHCGR, STON1-GTF2A1L (T602I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500456	NM_000233.4(LHCGR):c.1797C>A (p.Ile599=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1337042	NM_000233.4(LHCGR):c.1787T>G (p.Val596Gly)	LHCGR, STON1-GTF2A1L (V596G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 14388	NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro)	LHCGR, STON1-GTF2A1L (A593P)	Single nucleotide variant (missense variant +1 more)	Luteinizing hormone resistance, female +1 more	GPathogenic
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 447700	NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala)	LHCGR, STON1-GTF2A1L (D578A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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
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 14403	NM_000233.4(LHCGR):c.1732G>C (p.Asp578His)	LHCGR, STON1-GTF2A1L (D578H)	Single nucleotide variant (missense variant +1 more)	Leydig cell adenoma, somatic, with male-limited precocious puberty	GPathogenic
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 804990	NM_000233.4(LHCGR):c.1723A>C (p.Ile575Leu)	LHCGR, STON1-GTF2A1L (I575L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 1389006	NM_000233.4(LHCGR):c.1713G>T (p.Met571Ile)	LHCGR, STON1-GTF2A1L (M571I)	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 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 1458111	NM_000233.4(LHCGR):c.1691A>T (p.Asp564Val)	LHCGR, STON1-GTF2A1L (D564V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 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 14392	NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)	STON1-GTF2A1L, LHCGR (R554*)	Single nucleotide variant (nonsense +1 more)	not provided +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 14387	NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg)	LHCGR, STON1-GTF2A1L (C543R)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	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 1532493	NM_000233.4(LHCGR):c.1590C>A (p.Thr530=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2919521	NM_000233.4(LHCGR):c.1526T>C (p.Met509Thr)	LHCGR, STON1-GTF2A1L (M509T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1376235	NM_000233.4(LHCGR):c.1510G>A (p.Gly504Ser)	LHCGR, STON1-GTF2A1L (G504S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 14410	NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro)	LHCGR, STON1-GTF2A1L (L502P)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	GPathogenic
Select item 423531	NM_000233.4(LHCGR):c.1471T>C (p.Trp491Arg)	LHCGR, STON1-GTF2A1L (W491R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2247695	NM_000233.4(LHCGR):c.1466G>T (p.Gly489Val)	LHCGR, STON1-GTF2A1L (G489V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203074	NM_000233.4(LHCGR):c.1435C>T (p.Arg479Ter)	LHCGR, STON1-GTF2A1L (R479*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2900589	NM_000233.4(LHCGR):c.1374C>T (p.Thr458=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1443417	NM_000233.4(LHCGR):c.1345G>A (p.Ala449Thr)	LHCGR, STON1-GTF2A1L (A449T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2615877	NM_000233.4(LHCGR):c.1324G>A (p.Ala442Thr)	LHCGR, STON1-GTF2A1L (A442T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543623	NM_000233.4(LHCGR):c.1322C>T (p.Thr441Ile)	LHCGR, STON1-GTF2A1L (T441I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1900832	NM_000233.4(LHCGR):c.1224G>A (p.Met408Ile)	LHCGR, STON1-GTF2A1L (M408I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2899615	NM_000233.4(LHCGR):c.1202T>C (p.Leu401Pro)	LHCGR, STON1-GTF2A1L (L401P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2312380	NM_000233.4(LHCGR):c.1183C>T (p.Arg395Cys)	STON1-GTF2A1L, LHCGR (R395C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2004397	NM_000233.4(LHCGR):c.1178T>G (p.Val393Gly)	LHCGR, STON1-GTF2A1L (V393G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 711114	NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg)	LHCGR, STON1-GTF2A1L (K390R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1307902	NM_000233.4(LHCGR):c.1150C>A (p.Leu384Ile)	LHCGR, STON1-GTF2A1L (L384I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2211131	NM_000233.4(LHCGR):c.1139T>C (p.Val380Ala)	LHCGR, STON1-GTF2A1L (V380A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2712770	NM_000233.4(LHCGR):c.1113T>C (p.Ile371=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1386389	NM_000233.4(LHCGR):c.1097T>C (p.Ile366Thr)	LHCGR, STON1-GTF2A1L (I366T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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