ClinVar for MedGen (Select 377871) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 199

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022096	NM_001040167.2(LFNG):c.822-6C>A	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 3019985	NM_001040167.2(LFNG):c.123G>A (p.Ala41=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 3017108	NM_001040167.2(LFNG):c.735+13C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 3015184	NM_001040167.2(LFNG):c.637C>T (p.Leu213=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 3007549	NM_001040167.2(LFNG):c.222G>C (p.Leu74=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2980133	NM_001040167.2(LFNG):c.234C>T (p.Phe78=)	LFNG	Single nucleotide variant (intron variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2980106	NM_001040167.2(LFNG):c.549G>A (p.Val183=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2970219	NM_001040167.2(LFNG):c.1029C>G (p.Ala343=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2956413	NM_001040167.2(LFNG):c.306C>T (p.His102=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2920459	NM_001040167.2(LFNG):c.1101C>T (p.Tyr367=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2910207	NM_001040167.2(LFNG):c.856C>T (p.Arg286Trp)	LFNG (R157W +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2906043	NM_001040167.2(LFNG):c.913C>T (p.Leu305Phe)	LFNG (L176F +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2901198	NM_001040167.2(LFNG):c.747C>T (p.His249=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2900501	NM_001040167.2(LFNG):c.716G>A (p.Arg239Gln)	LFNG (R110Q +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2897824	NM_001040167.2(LFNG):c.741T>C (p.Pro247=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2884332	NM_001040167.2(LFNG):c.898C>T (p.Leu300=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2883801	NM_001040167.2(LFNG):c.822-20del	LFNG	Deletion (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2873842	NM_001040167.2(LFNG):c.736-12C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2844073	NM_001040167.2(LFNG):c.581+18G>A	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2825855	NM_001040167.2(LFNG):c.432+11C>G	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
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 2818906	NM_001040167.2(LFNG):c.481+16G>C	LFNG	Single nucleotide variant (intron variant)	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 2786608	NM_001040167.2(LFNG):c.183G>A (p.Ala61=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2745753	NM_001040167.2(LFNG):c.987+16_987+33del	LFNG	Deletion (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2728065	NM_001040167.2(LFNG):c.294C>T (p.Pro98=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2727109	NM_001040167.2(LFNG):c.501C>T (p.Asn167=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2722414	NM_001040167.2(LFNG):c.981C>T (p.His327=)	LFNG	Single nucleotide variant (synonymous variant)	LFNG-related condition +1 more	GLikely benign
Select item 2715197	NM_001040167.2(LFNG):c.528G>A (p.Ala176=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2704249	NM_001040167.2(LFNG):c.486C>T (p.Asn162=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2413368	NM_001040167.2(LFNG):c.1029C>T (p.Ala343=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
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 2195231	NM_001040167.2(LFNG):c.654G>A (p.Pro218=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2194732	NM_001040167.2(LFNG):c.993G>A (p.Thr331=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2179070	NM_001040167.2(LFNG):c.1005_1013dup (p.Phe337_Glu338insAspMetPhe)	LFNG	Duplication (inframe_insertion)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2178047	NM_001040167.2(LFNG):c.984G>A (p.Glu328=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2176865	NM_001040167.2(LFNG):c.508G>A (p.Ala170Thr)	LFNG (A170T +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2166342	NM_001040167.2(LFNG):c.666C>T (p.Asp222=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
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 2160078	NM_001040167.2(LFNG):c.393C>T (p.Asp131=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2158857	NM_001040167.2(LFNG):c.481+20C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2155206	NM_001040167.2(LFNG):c.659C>T (p.Thr220Met)	LFNG (T220M +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GUncertain significance
Select item 2153077	NM_001040167.2(LFNG):c.306C>A (p.His102Gln)	LFNG (H102Q)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2143981	NM_001040167.2(LFNG):c.112G>T (p.Gly38Cys)	LFNG (G38C)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2142277	NM_001040167.2(LFNG):c.675C>T (p.Val225=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2116176	NM_001040167.2(LFNG):c.237C>T (p.Ser79=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2099808	NM_001040167.2(LFNG):c.299A>T (p.Asp100Val)	LFNG (D100V)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	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 2075490	NM_001040167.2(LFNG):c.334C>A (p.Pro112Thr)	LFNG (P112T)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2068568	NM_001040167.2(LFNG):c.137C>T (p.Ala46Val)	LFNG (A46V)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2066482	NM_001040167.2(LFNG):c.882C>T (p.Gly294=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2063292	NM_001040167.2(LFNG):c.568G>A (p.Glu190Lys)	LFNG (E61K +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2062728	NM_001040167.2(LFNG):c.569A>T (p.Glu190Val)	LFNG (E190V +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2059942	NM_001040167.2(LFNG):c.765C>T (p.Gly255=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GLikely benign
Select item 2050364	NM_001040167.2(LFNG):c.1073+14G>A	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2050152	NM_001040167.2(LFNG):c.246C>T (p.Thr82=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2049321	NM_001040167.2(LFNG):c.420C>G (p.Arg140=)	LFNG	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 2044615	NM_001040167.2(LFNG):c.581+15G>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2035600	NM_001040167.2(LFNG):c.780C>T (p.Cys260=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2035397	NM_001040167.2(LFNG):c.216_217del (p.His72fs)	LFNG (H72fs)	Microsatellite (frameshift variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GPathogenic
Select item 2031352	NM_001040167.2(LFNG):c.433-12T>A	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2017855	NM_001040167.2(LFNG):c.102C>G (p.Pro34=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2010962	NM_001040167.2(LFNG):c.126G>A (p.Leu42=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2005168	NM_001040167.2(LFNG):c.822-18G>C	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1992146	NM_001040167.2(LFNG):c.927C>T (p.Gly309=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1986968	NM_001040167.2(LFNG):c.1008G>A (p.Met336Ile)	LFNG (M265I +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	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 1986343	NM_001040167.2(LFNG):c.987+17G>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1976681	NM_001040167.2(LFNG):c.443dup (p.Thr149fs)	LFNG (T149fs +2 more)	Duplication (frameshift variant)	Spondylocostal dysostosis 3, autosomal recessive	GPathogenic
Select item 1969551	NM_001040167.2(LFNG):c.879C>T (p.Ile293=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1960287	NM_001040167.2(LFNG):c.822-19G>A	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1943668	NM_001040167.2(LFNG):c.92C>T (p.Pro31Leu)	LFNG (P31L)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1922884	NM_001040167.2(LFNG):c.432+16C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1908842	NM_001040167.2(LFNG):c.620T>A (p.Leu207Gln)	LFNG (L136Q +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1900778	NM_001040167.2(LFNG):c.363C>T (p.Thr121=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1714851	NM_001040167.2(LFNG):c.826G>C (p.Gly276Arg)	LFNG (G147R +2 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1673069	NM_001040167.2(LFNG):c.567C>T (p.Ile189=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1658413	NM_001040167.2(LFNG):c.987+12T>C	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1647341	NM_001040167.2(LFNG):c.735+10T>G	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1642646	NM_001040167.2(LFNG):c.1140G>A (p.Ter380=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1632250	NM_001040167.2(LFNG):c.822-9C>G	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GBenign
Select item 1627154	NM_001040167.2(LFNG):c.736-15T>G	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1624295	NM_001040167.2(LFNG):c.696G>A (p.Arg232=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1619416	NM_001040167.2(LFNG):c.661C>A (p.Arg221=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1610180	NM_001040167.2(LFNG):c.581+14C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GBenign
Select item 1605574	NM_001040167.2(LFNG):c.821+9C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1601353	NM_001040167.2(LFNG):c.988-12C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GBenign
Select item 1599736	NM_001040167.2(LFNG):c.988-16C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GBenign
Select item 1591433	NM_001040167.2(LFNG):c.736-15_736-13del	LFNG	Deletion (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1589184	NM_001040167.2(LFNG):c.432+12G>A	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1586331	NM_001040167.2(LFNG):c.594C>T (p.His198=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1585064	NM_001040167.2(LFNG):c.1032C>T (p.Val344=)	LFNG	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 3, autosomal recessive	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 1568087	NM_001040167.2(LFNG):c.285C>G (p.Ala95=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1567819	NM_001040167.2(LFNG):c.105C>T (p.Ala35=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1562527	NM_001040167.2(LFNG):c.736-18C>T	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1558781	NM_001040167.2(LFNG):c.481+10G>C	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1543640	NM_001040167.2(LFNG):c.316C>T (p.Leu106=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1534116	NM_001040167.2(LFNG):c.988-11G>A	LFNG	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign

<< First< Prev

Page of 2