"Ambry Genetics"[submitter] AND "LHCGR"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2235017	NM_000233.4(LHCGR):c.1025G>A (p.Arg342Gln)	STON1-GTF2A1L, LHCGR (R342Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 2302434	NM_000233.4(LHCGR):c.590C>T (p.Thr197Met)	STON1-GTF2A1L, LHCGR (T197M)	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 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