Related gene-specific medical variations for Gene (Select 286749) - 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 3323375	NM_001198593.2(STON1-GTF2A1L):c.2782G>A (p.Glu928Lys)	GTF2A1L, STON1-GTF2A1L (E190K +3 more)	Single nucleotide variant (missense variant)	not specified	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 3171494	NM_006873.4(STON1):c.2164G>A (p.Asp722Asn)	STON1, STON1-GTF2A1L (D722N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171493	NM_006873.4(STON1):c.1561T>C (p.Tyr521His)	STON1, STON1-GTF2A1L (Y521H)	Single nucleotide variant (missense variant)	not specified	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 3103051	NM_006872.5(GTF2A1L):c.899A>G (p.Lys300Arg)	GTF2A1L, STON1-GTF2A1L (K266R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103050	NM_006872.5(GTF2A1L):c.816A>C (p.Gln272His)	GTF2A1L, STON1-GTF2A1L (Q238H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103049	NM_006872.5(GTF2A1L):c.812C>G (p.Ala271Gly)	GTF2A1L, STON1-GTF2A1L (A237G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103048	NM_006872.5(GTF2A1L):c.809T>G (p.Met270Arg)	GTF2A1L, STON1-GTF2A1L (M927R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103047	NM_006872.5(GTF2A1L):c.707A>G (p.Gln236Arg)	GTF2A1L, STON1-GTF2A1L (Q940R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103046	NM_006872.5(GTF2A1L):c.68G>A (p.Arg23Gln)	GTF2A1L, STON1-GTF2A1L (R727Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103045	NM_006872.5(GTF2A1L):c.667A>G (p.Asn223Asp)	GTF2A1L, STON1-GTF2A1L (N880D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103044	NM_006872.5(GTF2A1L):c.659C>T (p.Ser220Phe)	GTF2A1L, STON1-GTF2A1L (S186F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103043	NM_006872.5(GTF2A1L):c.653T>C (p.Leu218Pro)	GTF2A1L, STON1-GTF2A1L (L184P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103042	NM_006872.5(GTF2A1L):c.611C>T (p.Pro204Leu)	GTF2A1L, STON1-GTF2A1L (P170L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103041	NM_006872.5(GTF2A1L):c.593C>T (p.Ala198Val)	GTF2A1L, STON1-GTF2A1L (A164V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103040	NM_006872.5(GTF2A1L):c.592G>A (p.Ala198Thr)	GTF2A1L, STON1-GTF2A1L (A855T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103039	NM_006872.5(GTF2A1L):c.587A>C (p.Gln196Pro)	GTF2A1L, STON1-GTF2A1L (Q853P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103038	NM_006872.5(GTF2A1L):c.584A>G (p.Gln195Arg)	GTF2A1L, STON1-GTF2A1L (Q195R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103037	NM_006872.5(GTF2A1L):c.547A>G (p.Thr183Ala)	GTF2A1L, STON1-GTF2A1L (T149A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103036	NM_006872.5(GTF2A1L):c.46G>C (p.Glu16Gln)	GTF2A1L, STON1-GTF2A1L (E720Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103035	NM_006872.5(GTF2A1L):c.461C>T (p.Pro154Leu)	GTF2A1L, STON1-GTF2A1L (P120L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103034	NM_006872.5(GTF2A1L):c.448A>G (p.Ile150Val)	GTF2A1L, STON1-GTF2A1L (I116V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103033	NM_006872.5(GTF2A1L):c.407A>T (p.Asn136Ile)	GTF2A1L, STON1-GTF2A1L (N102I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103032	NM_006872.5(GTF2A1L):c.407A>G (p.Asn136Ser)	GTF2A1L, STON1-GTF2A1L (N102S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103031	NM_006872.5(GTF2A1L):c.393C>G (p.His131Gln)	GTF2A1L, STON1-GTF2A1L (H788Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103030	NM_006872.5(GTF2A1L):c.222G>C (p.Leu74Phe)	GTF2A1L, STON1-GTF2A1L (L74F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103029	NM_006872.5(GTF2A1L):c.173G>A (p.Arg58Lys)	GTF2A1L, STON1-GTF2A1L (R762K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103028	NM_006872.5(GTF2A1L):c.1337G>T (p.Arg446Leu)	GTF2A1L, STON1-GTF2A1L (R1150L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103027	NM_006872.5(GTF2A1L):c.1319A>G (p.Gln440Arg)	GTF2A1L, STON1-GTF2A1L (Q1144R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103026	NM_006872.5(GTF2A1L):c.1230T>G (p.Ile410Met)	GTF2A1L, STON1-GTF2A1L (I410M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103025	NM_006872.5(GTF2A1L):c.1217C>A (p.Pro406His)	GTF2A1L, STON1-GTF2A1L (P1063H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103024	NM_006872.5(GTF2A1L):c.1107G>T (p.Glu369Asp)	GTF2A1L, STON1-GTF2A1L (E1026D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103023	NM_006872.5(GTF2A1L):c.1089T>G (p.Ser363Arg)	GTF2A1L, STON1-GTF2A1L (S1020R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103022	NM_006872.5(GTF2A1L):c.1073A>G (p.Asn358Ser)	GTF2A1L, STON1-GTF2A1L (N358S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103021	NM_006872.5(GTF2A1L):c.1055G>A (p.Ser352Asn)	GTF2A1L, STON1-GTF2A1L (S352N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103020	NM_006872.5(GTF2A1L):c.1012G>A (p.Val338Ile)	GTF2A1L, STON1-GTF2A1L (V1042I +3 more)	Single nucleotide variant (missense variant)	not specified	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 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 2533288	NM_006872.5(GTF2A1L):c.914G>A (p.Gly305Glu)	GTF2A1L, STON1-GTF2A1L (G1009E +3 more)	Single nucleotide variant (missense variant)	not specified	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 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)	Inborn genetic diseases	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 2288534	NM_006873.4(STON1):c.176G>A (p.Ser59Asn)	STON1, STON1-GTF2A1L (S59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287112	NM_006872.5(GTF2A1L):c.8G>C (p.Cys3Ser)	GTF2A1L, STON1-GTF2A1L (C3S)	Single nucleotide variant (missense variant +1 more)	not specified	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

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