"PreventionGenetics, part of Exact Sciences"[submitter] AND "STON1-GTF - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14402	NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu)	LHCGR, STON1-GTF2A1L (I542L)	Single nucleotide variant (missense variant +1 more)	LHCGR-related disorder +1 more	GPathogenic
Select item 255607	NM_000233.4(LHCGR):c.1065T>C (p.Asp355=)	LHCGR, STON1-GTF2A1L	Single nucleotide variant (synonymous variant +1 more)	Gonadotropin-independent familial sexual precocity +4 more	GBenign
Select item 255609	NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser)	LHCGR, STON1-GTF2A1L (N312S)	Single nucleotide variant (missense variant +1 more)	Leydig cell agenesis +4 more	GBenign
Select item 255608	NM_000233.4(LHCGR):c.866+8G>A	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Gonadotropin-independent familial sexual precocity +4 more	GBenign
Select item 336465	NM_000233.4(LHCGR):c.606-5C>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Leydig cell agenesis +4 more	GBenign/Likely 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 775713	NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)	LHCGR, STON1-GTF2A1L (Q190K)	Single nucleotide variant (missense variant +1 more)	LHCGR-related disorder +1 more	GConflicting classifications of pathogenicity
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 336469	NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)	LHCGR, STON1-GTF2A1L (Y113N)	Single nucleotide variant (missense variant +1 more)	LHCGR-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 895727	NM_000233.4(LHCGR):c.161+9A>G	LHCGR, STON1-GTF2A1L	Single nucleotide variant (intron variant)	Gonadotropin-independent familial sexual precocity +4 more	GConflicting classifications of pathogenicity
Select item 336472	NM_000233.4(LHCGR):c.54G>A (p.Gln18=)	STON1-GTF2A1L, LHCGR	Single nucleotide variant (synonymous variant +1 more)	LHCGR-related disorder +3 more	GConflicting classifications of pathogenicity
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 3043125	NM_000233.4(LHCGR):c.-6C>T	LHCGR, STON1-GTF2A1L	Single nucleotide variant (5 prime UTR variant +1 more)	STON1-GTF2A1L-related disorder	GLikely benign