"OMIM"[submitter] AND "STON1-GTF2A1L"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 14398	NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys)	LHCGR, STON1-GTF2A1L (E354K)	Single nucleotide variant (missense variant +1 more)	Luteinizing hormone resistance, female +1 more	GPathogenic
Select item 14409	NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser)	LHCGR, STON1-GTF2A1L (C343S)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	GPathogenic
Select item 14404	NM_000233.4(LHCGR):c.866+1515_948-2168del	LHCGR, STON1-GTF2A1L	Deletion (splice acceptor variant +2 more)	Leydig cell hypoplasia, type II	GPathogenic
Select item 14411	NM_000233.4(LHCGR):c.430G>T (p.Val144Phe)	LHCGR, STON1-GTF2A1L (V144F)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis	GPathogenic
Select item 14396	NM_000233.4(LHCGR):c.391T>C (p.Cys131Arg)	LHCGR, STON1-GTF2A1L (C131R)	Single nucleotide variant (missense variant +1 more)	Leydig cell hypoplasia, type II	GPathogenic
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 14405	NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln)	LHCGR, STON1-GTF2A1L	Microsatellite (inframe_insertion +1 more)	not provided	GPathogenic

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Items: 27