4010[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503053	t(12;16)(q13.13;p11.2)	FUS, TFCP2	Translocation	Adrenal cortex carcinoma	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 1201317	NC_000016.10:g.31180051C>T	FUS	Single nucleotide variant	not provided	GLikely benign
Select item 885382	NM_004960.3(FUS):c.-118G>A	FUS	Single nucleotide variant	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 318979	NM_004960.4(FUS):c.-54A>G	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 318980	NM_004960.4(FUS):c.-53C>T	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 885383	NM_004960.4(FUS):c.-51C>T	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 885384	NM_004960.4(FUS):c.-49G>A	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 318981	NM_004960.4(FUS):c.-49G>T	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 885385	NM_004960.4(FUS):c.-48C>G	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 887473	NM_004960.4(FUS):c.-47G>A	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1335212	NM_004960.4(FUS):c.-44G>A	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 318982	NM_004960.4(FUS):c.-39A>G	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GBenign/Likely benign
Select item 887474	NM_004960.4(FUS):c.-15C>G	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 3025729	NM_004960.4(FUS):c.-6G>C	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3047979	NM_004960.4(FUS):c.-5C>G	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	FUS-related disorder	GLikely benign
Select item 3029985	NM_004960.4(FUS):c.6C>T (p.Ala2=)	FUS	Single nucleotide variant (synonymous variant +1 more)	FUS-related disorder	GLikely benign
Select item 374092	NM_004960.4(FUS):c.13+11_13+13del	FUS	Deletion (intron variant)	Myoclonus +2 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 447356	NM_004960.4(FUS):c.31A>G (p.Thr11Ala)	FUS (T11A)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 887475	NM_004960.4(FUS):c.39-12C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 1601917	NM_004960.4(FUS):c.39-11C>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 887476	NM_004960.4(FUS):c.40T>A (p.Tyr14Asn)	FUS (Y14N)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6	GUncertain significance
Select item 2628761	NM_004960.4(FUS):c.41A>G (p.Tyr14Cys)	FUS (Y14C)	Single nucleotide variant (missense variant +1 more)	FUS-related disorder	GUncertain significance
Select item 1530335	NM_004960.4(FUS):c.47C>T (p.Ala16Val)	FUS (A16V)	Single nucleotide variant (missense variant +1 more)	FUS-related disorder +3 more	GLikely benign
Select item 1113414	NM_004960.4(FUS):c.52C>A (p.Pro18Thr)	FUS (P18T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 887477	NM_004960.4(FUS):c.52C>T (p.Pro18Ser)	FUS (P18S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GUncertain significance
Select item 1167570	NM_004960.4(FUS):c.66G>A (p.Gly22=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2617741	NM_004960.4(FUS):c.74A>C (p.Tyr25Ser)	FUS (Y25S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 736440	NM_004960.4(FUS):c.90T>C (p.Ser30=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GLikely benign
Select item 3097459	NM_004960.4(FUS):c.95C>T (p.Pro32Leu)	FUS (P32L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1549061	NM_004960.4(FUS):c.96C>T (p.Pro32=)	FUS	Single nucleotide variant (non-coding transcript variant +1 more)	Tremor, hereditary essential, 4 +1 more	GLikely benign
Select item 1567449	NM_004960.4(FUS):c.99C>T (p.Tyr33=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1746926	NM_004960.4(FUS):c.119G>C (p.Gly40Ala)	FUS (G40A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 704955	NM_004960.4(FUS):c.132C>T (p.Ser44=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely 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 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 259594	NM_004960.4(FUS):c.147C>A (p.Gly49=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 259595	NM_004960.4(FUS):c.153C>T (p.Gly51=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 2455818	NM_004960.4(FUS):c.161G>A (p.Ser54Asn)	FUS (S54N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1777216	NM_004960.4(FUS):c.164A>G (p.Tyr55Cys)	FUS (Y55C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1213403	NM_004960.4(FUS):c.167CTT[1] (p.Ser57del)	FUS (S57del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 772081	NM_004960.4(FUS):c.174T>C (p.Tyr58=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1013097	NM_004960.4(FUS):c.181A>G (p.Ser61Gly)	FUS (S61G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 834592	NM_004960.4(FUS):c.182G>A (p.Ser61Asn)	FUS (S61N)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 808036	NM_004960.4(FUS):c.188A>G (p.Asn63Ser)	FUS (N63S)	Single nucleotide variant (missense variant +1 more)	FUS-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 259596	NM_004960.4(FUS):c.190+9T>C	FUS	Single nucleotide variant (intron variant)	Tremor, hereditary essential, 4 +3 more	GBenign
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 1189075	NM_004960.4(FUS):c.190+173C>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239588	NM_004960.4(FUS):c.190+197T>C	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201681	NM_004960.4(FUS):c.190+216C>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198528	NM_004960.4(FUS):c.190+241G>A	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203951	NM_004960.4(FUS):c.190+251C>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187752	NM_004960.4(FUS):c.190+261A>C	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259597	NM_004960.4(FUS):c.191-41T>C	FUS	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1194586	NM_004960.4(FUS):c.191-23C>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 704792	NM_004960.4(FUS):c.191-10A>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 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 1782514	NM_004960.4(FUS):c.191-1G>A	FUS	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 318983	NM_004960.4(FUS):c.192A>G (p.Thr64=)	FUS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 540282	NM_004960.4(FUS):c.198T>C (p.Tyr66=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
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 1357166	NM_004960.4(FUS):c.215C>T (p.Pro72Leu)	FUS (P71L +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 450106	NM_004960.4(FUS):c.217C>T (p.Gln73Ter)	FUS (Q73* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 887665	NM_004960.4(FUS):c.222A>G (p.Gly74=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GConflicting classifications of pathogenicity
Select item 1091213	NM_004960.4(FUS):c.231G>A (p.Ser77=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
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 1790273	NM_004960.4(FUS):c.236G>A (p.Gly79Asp)	FUS (G78D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 725194	NM_004960.4(FUS):c.237C>T (p.Gly79=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GBenign
Select item 851344	NM_004960.4(FUS):c.238G>A (p.Gly80Ser)	FUS (G79S +1 more)	Single nucleotide variant (missense variant +1 more)	Tremor, hereditary essential, 4 +2 more	GConflicting classifications of pathogenicity
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 3224532	NM_004960.4(FUS):c.264A>G (p.Gln88=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1045687	NM_004960.4(FUS):c.265T>A (p.Ser89Thr)	FUS (S88T +1 more)	Single nucleotide variant (missense variant +1 more)	FUS-related disorder +2 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 704278	NM_004960.4(FUS):c.273C>T (p.Tyr91=)	FUS	Single nucleotide variant (synonymous variant +1 more)	FUS-related disorder +4 more	GBenign/Likely benign
Select item 3057635	NM_004960.4(FUS):c.285C>T (p.Ser95=)	FUS	Single nucleotide variant (synonymous variant +1 more)	FUS-related disorder	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 838008	NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr)	FUS (P98T +1 more)	Indel (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GUncertain significance
Select item 259598	NM_004960.4(FUS):c.291C>T (p.Tyr97=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1539279	NM_004960.4(FUS):c.300T>C (p.Tyr100=)	FUS	Single nucleotide variant (synonymous variant +1 more)	FUS-related disorder +3 more	GLikely benign
Select item 804815	NM_004960.4(FUS):c.317C>T (p.Pro106Leu)	FUS (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1581652	NM_004960.4(FUS):c.318C>T (p.Pro106=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +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 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 1594850	NM_004960.4(FUS):c.335+19C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GLikely benign
Select item 1656122	NM_004960.4(FUS):c.336-19_336-16del	FUS	Deletion (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GBenign
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 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 1599440	NM_004960.4(FUS):c.336-19_336-18insG	FUS	Insertion (intron variant)	Amyotrophic lateral sclerosis type 6 +1 more	GBenign/Likely benign
Select item 2628616	NM_004960.4(FUS):c.336-5C>A	FUS	Single nucleotide variant (intron variant)	FUS-related disorder	GUncertain significance
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 1730641	NM_004960.4(FUS):c.336-3T>C	FUS	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 784771	NM_004960.4(FUS):c.339C>T (p.Tyr113=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +3 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 734380	NM_004960.4(FUS):c.345C>T (p.Ser115=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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