FURIN[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 1265365	NM_002569.4(FURIN):c.-159-2262C>A	FURIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2403730	NM_002569.4(FURIN):c.148C>T (p.Arg50Trp)	FURIN (R50W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563482	NM_002569.4(FURIN):c.218C>T (p.Thr73Met)	FURIN (T73M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645709	NM_002569.4(FURIN):c.241C>T (p.Arg81Cys)	FURIN (R81C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2569260	NM_002569.4(FURIN):c.242G>A (p.Arg81His)	FURIN (R81H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234727	NM_002569.4(FURIN):c.350A>C (p.Lys117Thr)	FURIN (K117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466052	NM_002569.4(FURIN):c.407C>T (p.Ala136Val)	FURIN (A136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343559	NM_002569.4(FURIN):c.416C>T (p.Ala139Val)	FURIN (A139V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395335	NM_002569.4(FURIN):c.433C>T (p.His145Tyr)	FURIN (H145Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645710	NM_002569.4(FURIN):c.435C>T (p.His145=)	FURIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2388762	NM_002569.4(FURIN):c.505C>A (p.Pro169Thr)	FURIN (P169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554480	NM_002569.4(FURIN):c.619A>C (p.Asn207His)	FURIN (N207H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600801	NM_002569.4(FURIN):c.827G>A (p.Arg276His)	FURIN (R276H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479665	NM_002569.4(FURIN):c.919G>A (p.Gly307Ser)	FURIN (G307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261505	NM_002569.4(FURIN):c.932G>T (p.Ser311Ile)	FURIN (S311I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383666	NM_002569.4(FURIN):c.952A>G (p.Ser318Gly)	FURIN (S318G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454588	NM_002569.4(FURIN):c.1007C>T (p.Thr336Ile)	FURIN (T336I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282364	NM_002569.4(FURIN):c.1192G>T (p.Val398Leu)	FURIN (V398L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611626	NM_002569.4(FURIN):c.1207C>T (p.Pro403Ser)	FURIN (P403S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382248	NM_002569.4(FURIN):c.1220A>G (p.Asn407Ser)	FURIN (N407S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243264	NM_002569.4(FURIN):c.1234G>T (p.Ala412Ser)	FURIN (A412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525090	NM_002569.4(FURIN):c.1342C>T (p.Arg448Trp)	FURIN (R448W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515854	NM_002569.4(FURIN):c.1357G>A (p.Asp453Asn)	FURIN (D453N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645711	NM_002569.4(FURIN):c.1377-6G>T	FURIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2616852	NM_002569.4(FURIN):c.1417G>A (p.Ala473Thr)	FURIN (A473T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097450	NM_002569.4(FURIN):c.1432C>T (p.Pro478Ser)	FURIN (P478S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288629	NM_002569.4(FURIN):c.1489C>T (p.Arg497Cys)	FURIN (R497C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097451	NM_002569.4(FURIN):c.1507A>G (p.Ile503Val)	FURIN (I503V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541972	NM_002569.4(FURIN):c.1519A>T (p.Ser507Cys)	FURIN (S507C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599268	NM_002569.4(FURIN):c.1534C>A (p.Arg512Ser)	FURIN (R512S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248007	NM_002569.4(FURIN):c.1535G>A (p.Arg512His)	FURIN (R512H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333109	NM_002569.4(FURIN):c.1602G>A (p.Met534Ile)	FURIN (M534I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322043	NM_002569.4(FURIN):c.1606A>T (p.Thr536Ser)	FURIN (T536S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407167	NM_002569.4(FURIN):c.1654G>C (p.Glu552Gln)	FURIN (E552Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341641	NM_002569.4(FURIN):c.1666G>A (p.Glu556Lys)	FURIN (E556K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097453	NM_002569.4(FURIN):c.1708C>T (p.Leu570Phe)	FURIN (L570F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608954	NM_002569.4(FURIN):c.1874C>T (p.Thr625Met)	FURIN (R624C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645712	NM_002569.4(FURIN):c.2016G>A (p.Glu672=)	FURIN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2527942	NM_002569.4(FURIN):c.2075C>T (p.Pro692Leu)	FURIN (P692L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385920	NM_002569.4(FURIN):c.2078G>A (p.Arg693Gln)	FURIN (R693Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097455	NM_002569.4(FURIN):c.2113C>T (p.Arg705Trp)	FURIN (R705W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521699	NM_002569.4(FURIN):c.2260C>T (p.Arg754Cys)	FURIN (R754C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479967	NM_002569.4(FURIN):c.2261G>A (p.Arg754His)	FURIN (R754H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362356	NM_002569.4(FURIN):c.2315C>T (p.Pro772Leu)	FURIN (P772L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470806	NM_002569.4(FURIN):c.2342G>A (p.Arg781Gln)	FURIN (R781Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223497	NM_002569.4(FURIN):c.2377G>A (p.Ala793Thr)	FURIN (A793T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	IDH2, IGF1R +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	LINC00928, PLIN1 +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1810294	GRCh37/hg19 15q26.1(chr15:91422650-91497515)x1	FES, FURIN +3 more	Copy number loss	not provided	Gnot provided
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1027033	NC_000015.9:g.(?_91290623)_(91512067_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 833278	NC_000015.10:g.(?_90782812)_(90968837_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	GUncertain significance
Select item 815747	GRCh37/hg19 15q26.1(chr15:91347599-91491931)x1	HDDC3, FURIN +4 more	Copy number loss	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 688677	GRCh37/hg19 15q26.1(chr15:91276782-91550953)x1	BLM, FES +7 more	Copy number loss	not provided	GUncertain significance
Select item 687287	GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1	BLM, C15orf32 +14 more	Copy number loss	not provided	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564231	GRCh37/hg19 15q26.1(chr15:91269147-91491760)x3	HDDC3, FES +4 more	Copy number gain	not provided	GUncertain significance
Select item 564230	GRCh37/hg19 15q26.1(chr15:91263414-91502563)x3	MAN2A2, FES +5 more	Copy number gain	not provided	GUncertain significance
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 91