ClinVar for Gene (Select 3973) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354685	NM_000233.4(LHCGR):c.929A>C (p.Lys310Thr)	LHCGR, STON1-GTF2A1L (K310T)	Single nucleotide variant (missense variant +1 more)	LHCGR-related disorder	GUncertain significance
Select item 3346810	NM_000233.4(LHCGR):c.79G>C (p.Glu27Gln)	LHCGR, STON1-GTF2A1L (E27Q)	Single nucleotide variant (missense variant +1 more)	LHCGR-related disorder	GUncertain significance
Select item 3290595	NM_000233.4(LHCGR):c.20C>T (p.Ala7Val)	LHCGR, STON1-GTF2A1L (A7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290594	NM_000233.4(LHCGR):c.136G>A (p.Gly46Ser)	LHCGR, STON1-GTF2A1L (G46S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290592	NM_000233.4(LHCGR):c.2024A>C (p.Gln675Pro)	LHCGR, STON1-GTF2A1L (Q675P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290591	NM_000233.4(LHCGR):c.2084G>A (p.Arg695His)	LHCGR, STON1-GTF2A1L (R695H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118614	NM_000233.4(LHCGR):c.67C>G (p.Arg23Gly)	LHCGR, STON1-GTF2A1L (R23G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118613	NM_000233.4(LHCGR):c.443A>T (p.Glu148Val)	LHCGR, STON1-GTF2A1L (E148V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118612	NM_000233.4(LHCGR):c.232A>G (p.Ile78Val)	LHCGR, STON1-GTF2A1L (I78V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118611	NM_000233.4(LHCGR):c.1999T>C (p.Phe667Leu)	LHCGR, STON1-GTF2A1L (F667L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118609	NM_000233.4(LHCGR):c.1520A>G (p.Asn507Ser)	LHCGR, STON1-GTF2A1L (N507S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118608	NM_000233.4(LHCGR):c.1406C>T (p.Thr469Ile)	LHCGR, STON1-GTF2A1L (T469I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118607	NM_000233.4(LHCGR):c.1263A>T (p.Gln421His)	LHCGR, STON1-GTF2A1L (Q421H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118606	NM_000233.4(LHCGR):c.1259C>T (p.Ser420Phe)	LHCGR, STON1-GTF2A1L (S420F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068385	NM_000233.4(LHCGR):c.589A>C (p.Thr197Pro)	LHCGR, STON1-GTF2A1L (T197P)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	GUncertain significance
Select item 3062661	GRCh37/hg19 2p16.3(chr2:48738494-49500895)x3	FSHR, GTF2A1L +4 more	Copy number gain	not specified	GUncertain significance
Select item 3058660	NM_000233.4(LHCGR):c.426G>A (p.Thr142=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	LHCGR-related disorder	GLikely benign
Select item 3043125	NM_001198593.2(STON1-GTF2A1L):c.3442-20603G>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (5 prime UTR variant +1 more)	STON1-GTF2A1L-related disorder	GLikely benign
Select item 3031011	NM_000233.4(LHCGR):c.605+8T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	LHCGR-related disorder	GLikely benign
Select item 3020309	NM_000233.4(LHCGR):c.458+17T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020186	NM_000233.4(LHCGR):c.38TGC[6] (p.Leu17_Gln18insLeu)	LHCGR, STON1-GTF2A1L	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3008079	NM_000233.4(LHCGR):c.459-12T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997230	NM_000233.4(LHCGR):c.17C>T (p.Ser6Leu)	LHCGR, STON1-GTF2A1L (S6L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2982935	NM_000233.4(LHCGR):c.32_58dup (p.Pro19_Pro20insLeuLysLeuLeuLeuLeuLeuGlnPro)	LHCGR, STON1-GTF2A1L	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2963420	NM_000233.4(LHCGR):c.458+7A>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 2884742	NM_000233.4(LHCGR):c.628C>T (p.Leu210=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862103	NM_000233.4(LHCGR):c.832C>T (p.His278Tyr)	LHCGR, STON1-GTF2A1L (H278Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2834676	NM_000233.4(LHCGR):c.469G>A (p.Asp157Asn)	LHCGR, STON1-GTF2A1L (D157N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2650899	NM_000233.4(LHCGR):c.625C>T (p.His209Tyr)	LHCGR, STON1-GTF2A1L (H209Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650898	NM_000233.4(LHCGR):c.947+968_947+970del	LHCGR, STON1-GTF2A1L	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2650897	NM_000233.4(LHCGR):c.1023C>T (p.Pro341=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2633438	NM_000233.4(LHCGR):c.32T>C (p.Leu11Pro)	LHCGR, STON1-GTF2A1L (L11P)	Single nucleotide variant (missense variant +1 more)	LHCGR-related disorder	GLikely pathogenic
Select item 2633361	NM_000233.4(LHCGR):c.29T>C (p.Leu10Pro)	LHCGR, STON1-GTF2A1L (L10P)	Single nucleotide variant (missense variant +1 more)	LHCGR-related disorder	GLikely pathogenic
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 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 2539370	NM_000233.4(LHCGR):c.289C>T (p.Leu97Phe)	LHCGR, STON1-GTF2A1L (L97F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505528	NM_000233.4(LHCGR):c.118G>T (p.Gly40Cys)	LHCGR, STON1-GTF2A1L (G40C)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	GUncertain significance
Select item 2441172	NM_000233.4(LHCGR):c.161+1G>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2431959	NM_000233.4(LHCGR):c.993T>A (p.Tyr331Ter)	LHCGR, STON1-GTF2A1L (Y331*)	Single nucleotide variant (nonsense +1 more)	Leydig cell agenesis	GLikely pathogenic
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 2429361	NM_000233.4(LHCGR):c.757T>C (p.Ser253Pro)	LHCGR, STON1-GTF2A1L (S253P)	Single nucleotide variant (missense variant +1 more)	46,XY disorder of sex development	GUncertain significance
Select item 2423813	NC_000002.11:g.(?_48914836)_(50850773_?)dup	FSHR, LHCGR +2 more	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2411239	NM_000233.4(LHCGR):c.196T>C (p.Ser66Pro)	LHCGR, STON1-GTF2A1L (S66P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377996	NM_000233.4(LHCGR):c.746T>C (p.Ile249Thr)	LHCGR, STON1-GTF2A1L (I249T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2312380	NM_000233.4(LHCGR):c.1183C>T (p.Arg395Cys)	LHCGR, STON1-GTF2A1L (R395C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302434	NM_000233.4(LHCGR):c.590C>T (p.Thr197Met)	LHCGR, STON1-GTF2A1L (T197M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302027	NM_000233.4(LHCGR):c.724C>G (p.Leu242Val)	LHCGR, STON1-GTF2A1L (L242V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2235017	NM_000233.4(LHCGR):c.1025G>A (p.Arg342Gln)	LHCGR, STON1-GTF2A1L (R342Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 2203075	NM_000233.4(LHCGR):c.562G>T (p.Glu188Ter)	LHCGR, STON1-GTF2A1L (E188*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 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 2159654	NM_000233.4(LHCGR):c.114C>G (p.Pro38=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2094020	NM_000233.4(LHCGR):c.1095G>A (p.Leu365=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2066578	NM_000233.4(LHCGR):c.309-20T>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2059475	NM_000233.4(LHCGR):c.161+8C>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036704	NM_000233.4(LHCGR):c.491T>C (p.Ile164Thr)	LHCGR, STON1-GTF2A1L (I164T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2031349	NM_000233.4(LHCGR):c.249T>G (p.Ile83Met)	LHCGR, STON1-GTF2A1L (I83M)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 1967611	NM_000233.4(LHCGR):c.1095G>T (p.Leu365=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1960776	NM_000233.4(LHCGR):c.1031C>A (p.Ala344Asp)	LHCGR, STON1-GTF2A1L (A344D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935523	NM_000233.4(LHCGR):c.233+14T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912127	NM_000233.4(LHCGR):c.383+15T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908557	NM_000233.4(LHCGR):c.309-17T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1809168	GRCh37/hg19 2p16.3(chr2:48785431-49478424)x3	FSHR, GTF2A1L +3 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679516	NM_000233.4(LHCGR):c.47T>A (p.Leu16Gln)	LHCGR, STON1-GTF2A1L (L16Q)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1677888	NM_000233.4(LHCGR):c.671C>T (p.Pro224Leu)	LHCGR, STON1-GTF2A1L (P224L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1458111	NM_000233.4(LHCGR):c.1691A>T (p.Asp564Val)	STON1-GTF2A1L, LHCGR (D564V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 1408739	NM_000233.4(LHCGR):c.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu)	LHCGR, STON1-GTF2A1L	Duplication (inframe_insertion +1 more)	not provided +2 more	GUncertain significance
Select item 1399732	NC_000002.11:g.(?_48018046)_(50170949_?)dup	FOXN2, GTF2A1L +8 more	Duplication	Pitt-Hopkins-like syndrome 2	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 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
Select item 1384863	NM_000233.4(LHCGR):c.34_51del (p.Lys12_Leu17del)	LHCGR, STON1-GTF2A1L	Deletion (inframe_deletion +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 1341114	GRCh37/hg19 2p16.3(chr2:48770520-49478424)x3	GTF2A1L, LHCGR +3 more	Copy number gain	not provided	GUncertain significance
Select item 1339087	NM_000233.4(LHCGR):c.353C>T (p.Ala118Val)	LHCGR, STON1-GTF2A1L (A118V)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	GUncertain significance
Select item 1338265	NM_000233.4(LHCGR):c.35_36insCA (p.Lys12fs)	LHCGR, STON1-GTF2A1L (K12fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1337042	NM_000233.4(LHCGR):c.1787T>G (p.Val596Gly)	STON1-GTF2A1L, LHCGR (V596G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1304141	NM_000233.4(LHCGR):c.866A>G (p.Glu289Gly)	LHCGR, STON1-GTF2A1L (E289G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298196	NM_000233.4(LHCGR):c.605+46T>C	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292723	NM_000233.4(LHCGR):c.680+81C>T	STON1-GTF2A1L, LHCGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291538	NM_000233.4(LHCGR):c.234-65A>T	STON1-GTF2A1L, LHCGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291537	NM_000233.4(LHCGR):c.234-51G>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	not provided	GBenign

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