ClinVar for MedGen (Select 419901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954190	NM_004960.4(FUS):c.190+16C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2953046	NM_004960.4(FUS):c.39-18G>A	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2952201	NM_004960.4(FUS):c.936+7G>A	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2951392	NM_004960.4(FUS):c.336-20T>G	FUS	Single nucleotide variant (intron variant)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2950499	NM_004960.4(FUS):c.678C>T (p.Gly226=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +2 more	GLikely benign
Select item 2947724	NM_004960.4(FUS):c.285C>G (p.Ser95=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2946465	NM_004960.4(FUS):c.559G>A (p.Gly187Ser)	FUS (G186S +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2945750	NM_004960.4(FUS):c.38+19C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2945054	NM_004960.4(FUS):c.1531dup (p.Met511fs)	FUS (M507fs +2 more)	Duplication (frameshift variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GPathogenic
Select item 2944148	NM_004960.4(FUS):c.761T>C (p.Met254Thr)	FUS (M254T +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2944109	NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)	FUS (Y484C +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2941793	NM_004960.4(FUS):c.474G>C (p.Gln158His)	FUS (Q157H +1 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +1 more	GUncertain significance
Select item 2940512	NM_004960.4(FUS):c.511G>T (p.Gly171Cys)	FUS (G170C +1 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +1 more	GUncertain significance
Select item 2940324	NM_004960.4(FUS):c.524-13del	FUS	Deletion (intron variant)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2938494	NM_004960.4(FUS):c.1168+16C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2937822	NM_004960.4(FUS):c.1086T>C (p.Asn362=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2937525	NM_004960.4(FUS):c.1148G>A (p.Arg383His)	FUS (R383H +2 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +1 more	GUncertain significance
Select item 2937470	NM_004960.4(FUS):c.1394-13del	FUS	Deletion (intron variant)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2937462	NM_004960.4(FUS):c.453C>T (p.Pro151=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2936545	NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)	FUS (P425S +2 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +1 more	GUncertain significance
Select item 2935954	NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)	FUS (P359A +2 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +1 more	GUncertain significance
Select item 2935722	NM_004960.4(FUS):c.1549C>A (p.His517Asn)	FUS (H517N +2 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +1 more	GUncertain significance
Select item 2935390	NC_000016.10:g.31184376GAGGTG[6]	FUS	Microsatellite	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2935228	NM_004960.4(FUS):c.1395G>T (p.Gly465=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2934620	NM_004960.4(FUS):c.135G>T (p.Thr45=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2934499	NM_004960.4(FUS):c.335+6G>C	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2934074	NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)	FUS (Y207C +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2933142	NM_004960.4(FUS):c.234T>C (p.Thr78=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2932234	NM_004960.4(FUS):c.1506C>T (p.Asp502=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2931593	NM_004960.4(FUS):c.731G>A (p.Arg244His)	FUS (R240H +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2930732	NM_004960.4(FUS):c.672C>T (p.Gly224=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2929840	NM_004960.4(FUS):c.705C>T (p.Ser235=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2929683	NM_004960.4(FUS):c.833-10C>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2926843	NM_004960.4(FUS):c.336-4C>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2926478	NM_004960.4(FUS):c.1066+14G>A	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2926264	NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)	FUS (Y475C +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2926205	NM_004960.4(FUS):c.335+8G>C	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2925721	NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)	FUS	Duplication (inframe_insertion +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2925592	NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)	FUS (R510G +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GPathogenic
Select item 2925591	NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)	FUS (K510E +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely pathogenic
Select item 2925590	NM_004960.4(FUS):c.700C>T (p.Arg234Cys)	FUS (R230C +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2925142	NM_004960.4(FUS):c.906T>C (p.Ala302=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GLikely benign
Select item 2924567	NM_004960.4(FUS):c.191-8C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2924435	NM_004960.4(FUS):c.340G>A (p.Gly114Ser)	FUS (G113S +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2924328	NM_004960.4(FUS):c.832+13G>A	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2923384	NM_004960.4(FUS):c.1067-16T>C	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2923383	NM_004960.4(FUS):c.1067-17del	FUS	Deletion (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2923379	NM_004960.4(FUS):c.1292+20T>A	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2923277	NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)	FUS	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2922331	NM_004960.4(FUS):c.884A>G (p.Asn295Ser)	FUS (N291S +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2922255	NM_004960.4(FUS):c.432A>T (p.Gly144=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2921552	NM_004960.4(FUS):c.759C>T (p.Gly253=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GLikely benign
Select item 2671949	NM_004960.4(FUS):c.1573C>T (p.Pro525Ser)	FUS (P521S +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6	GLikely pathogenic
Select item 2444451	NM_004960.4(FUS):c.1468dup (p.Asp490fs)	FUS (D486fs +2 more)	Duplication (frameshift variant +1 more)	Amyotrophic lateral sclerosis type 6	GLikely pathogenic
Select item 2419096	NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)	FUS (Y480fs +2 more)	Deletion (frameshift variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GPathogenic
Select item 2200500	NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)	FUS	Duplication (inframe_insertion +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2198239	NM_004960.4(FUS):c.685GGT[4] (p.Gly231_Tyr232insGly)	FUS	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GUncertain significance
Select item 2197540	NM_004960.4(FUS):c.587A>G (p.Asn196Ser)	FUS (N192S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2196430	NM_004960.4(FUS):c.1393+20T>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2163593	NM_004960.4(FUS):c.566G>A (p.Gly189Asp)	FUS (G185D +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2162191	NM_004960.4(FUS):c.392G>A (p.Ser131Asn)	FUS (S130N +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2145324	NM_004960.4(FUS):c.799+13_799+14del	FUS	Microsatellite (intron variant)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2115114	NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)	FUS (R386P +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2104053	NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)	FUS (G456R +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2097416	NM_004960.4(FUS):c.689G>T (p.Gly230Val)	FUS (G226V +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2093811	NM_004960.4(FUS):c.1377A>C (p.Pro459=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2079755	NM_004960.4(FUS):c.579T>G (p.Gly193=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2076222	NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)	FUS	Duplication (inframe_insertion +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2075142	NM_004960.4(FUS):c.550A>G (p.Met184Val)	FUS (M180V +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2074071	NM_004960.4(FUS):c.211A>G (p.Thr71Ala)	FUS (T71A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2069851	NM_004960.4(FUS):c.14-9C>G	FUS	Single nucleotide variant (intron variant)	FUS-related disorder +2 more	GLikely benign
Select item 2068354	NM_004960.4(FUS):c.537A>C (p.Gln179His)	FUS (Q178H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2067931	NM_004960.4(FUS):c.144A>G (p.Ser48=)	FUS	Single nucleotide variant (synonymous variant +1 more)	FUS-related disorder +2 more	GBenign/Likely benign
Select item 2065419	NM_004960.4(FUS):c.823C>T (p.His275Tyr)	FUS (H275Y +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2061174	NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)	FUS	Duplication (inframe_insertion +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 2057525	NM_004960.4(FUS):c.1014G>A (p.Thr338=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2047719	NM_004960.4(FUS):c.849C>T (p.Asp283=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2047639	NM_004960.4(FUS):c.1125T>C (p.Phe375=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2046744	NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)	FUS (P521T +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GPathogenic
Select item 2046317	NM_004960.4(FUS):c.1293-13C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2039854	NM_004960.4(FUS):c.523+21_523+24del	FUS	Deletion (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 2027348	NM_004960.4(FUS):c.414A>G (p.Gly138=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 2018615	NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)	FUS (R518S +2 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +1 more	GUncertain significance
Select item 1984654	NM_004960.4(FUS):c.1394-19C>A	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1975044	NM_004960.4(FUS):c.1393+17T>C	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1972523	NM_004960.4(FUS):c.576C>T (p.Gly192=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1968297	NM_004960.4(FUS):c.336-19T>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1951144	NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)	FUS (S408G +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 1948202	NM_004960.4(FUS):c.1067-15T>A	FUS	Single nucleotide variant (intron variant)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 1947797	NM_004960.4(FUS):c.936+12G>A	FUS	Single nucleotide variant (intron variant)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 1947095	NM_004960.4(FUS):c.1541+12A>C	FUS	Single nucleotide variant (intron variant)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 1925472	NM_004960.4(FUS):c.764+9C>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1918103	NM_004960.4(FUS):c.253C>T (p.Gln85Ter)	FUS (Q84* +1 more)	Single nucleotide variant (nonsense +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GPathogenic
Select item 1910635	NM_004960.4(FUS):c.1394-12C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1908419	NM_004960.4(FUS):c.647G>A (p.Arg216His)	FUS (R212H +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 1794669	NM_004960.4(FUS):c.267G>A (p.Ser89=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1774893	NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)	FUS (G514S +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GUncertain significance
Select item 1773001	NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)	FUS (R484W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1762973	NM_004960.4(FUS):c.833-6A>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +2 more	GUncertain significance
Select item 1762911	NM_004960.4(FUS):c.831C>T (p.Ser277=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GConflicting classifications of pathogenicity

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