"Ambry Genetics"[submitter] AND "LFNG"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2360156	NM_001166355.2(LFNG):c.203G>C (p.Gly68Ala)	LFNG (G68A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118425	NM_001040167.2(LFNG):c.41C>A (p.Ala14Glu)	LFNG, LOC129997823 (A14E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269918	NM_001040167.2(LFNG):c.155C>T (p.Ala52Val)	LFNG (A52V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1986583	NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala)	LFNG (P53A)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GUncertain significance
Select item 2611323	NM_001040167.2(LFNG):c.158C>T (p.Pro53Leu)	LFNG (P53L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118422	NM_001040167.2(LFNG):c.161C>A (p.Ala54Glu)	LFNG (A54E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552731	NM_001040167.2(LFNG):c.218G>A (p.Ser73Asn)	LFNG (S73N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118423	NM_001040167.2(LFNG):c.262G>A (p.Ala88Thr)	LFNG (A88T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 850063	NM_001040167.2(LFNG):c.266G>T (p.Gly89Val)	LFNG (G89V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082399	NM_001040167.2(LFNG):c.271C>T (p.Pro91Ser)	LFNG (P91S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1394653	NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg)	LFNG (K123R)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 3118426	NM_001040167.2(LFNG):c.477C>G (p.His159Gln)	LFNG (H159Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118427	NM_001040167.2(LFNG):c.505T>C (p.Ser169Pro)	LFNG (S98P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118428	NM_001040167.2(LFNG):c.520C>T (p.Arg174Cys)	LFNG (R174C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496416	NM_001040167.2(LFNG):c.521G>T (p.Arg174Leu)	LFNG (R174L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064285	NM_001040167.2(LFNG):c.559C>T (p.Arg187Cys)	LFNG (R116C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2155206	NM_001040167.2(LFNG):c.659C>T (p.Thr220Met)	LFNG (T220M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 498504	NM_001040167.2(LFNG):c.691G>A (p.Asp231Asn)	LFNG (D231N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2532434	NM_001040167.2(LFNG):c.713A>T (p.Glu238Val)	LFNG (E109V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 665982	NM_001040167.2(LFNG):c.715C>T (p.Arg239Trp)	LFNG (R168W +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GUncertain significance
Select item 3118429	NM_001040167.2(LFNG):c.787C>T (p.Arg263Cys)	LFNG (R192C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1040378	NM_001040167.2(LFNG):c.842C>T (p.Thr281Met)	LFNG (T152M +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GUncertain significance
Select item 971848	NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp)	LFNG (R341W +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 498512	NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu)	LFNG (V346L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 24