Related gene-specific medical variations for Gene (Select 3955) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2824531	NM_001040167.2(LFNG):c.1074-11T>C	LFNG, MIR4648	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2789308	NM_001040167.2(LFNG):c.1074-19C>T	LFNG, MIR4648	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2497743	NM_001040167.2(LFNG):c.460G>A (p.Glu154Lys)	LFNG (E154K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200744	NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys)	LFNG, LOC129997823 (R4C)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2161843	NM_001040167.2(LFNG):c.84G>T (p.Pro28=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2047457	NM_001040167.2(LFNG):c.41C>G (p.Ala14Gly)	LFNG, LOC129997823 (A14G)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1706904	NM_001040167.2(LFNG):c.-74C>G	LFNG, LOC129997822	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1581874	NM_001040167.2(LFNG):c.1074-16T>C	LFNG, MIR4648	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GBenign
Select item 1515480	NM_001040167.2(LFNG):c.10C>G (p.Arg4Gly)	LFNG, LOC129997823 (R4G)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1478316	NM_001040167.2(LFNG):c.67G>T (p.Val23Leu)	LFNG, LOC129997823 (V23L)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1428674	NM_001040167.2(LFNG):c.46G>A (p.Ala16Thr)	LFNG, LOC129997823 (A16T)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1252056	NM_001040167.2(LFNG):c.761C>T (p.Thr254Met)	LFNG (T125M +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1165699	NM_001040167.2(LFNG):c.75C>T (p.Thr25=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GBenign
Select item 1090878	NM_001040167.2(LFNG):c.57C>T (p.Ala19=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1038450	NM_001040167.2(LFNG):c.37C>G (p.Leu13Val)	LFNG, LOC129997823 (L13V)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 747695	NM_001040167.2(LFNG):c.25C>T (p.Leu9=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731865	NM_001040167.2(LFNG):c.6C>A (p.Leu2=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 591987	NR_178195.1(LFNG):n.265_268GATG[5]	LFNG	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 500342	NM_001040167.2(LFNG):c.84GCC[4] (p.Pro32dup)	LOC129997823, LFNG	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance