FURIN[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +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	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +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 3280175	NM_002569.4(FURIN):c.1522C>G (p.Pro508Ala)	FURIN (P508A)	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 3280174	NM_002569.4(FURIN):c.2176G>C (p.Val726Leu)	FURIN (V726L)	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	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +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	CHRFAM7A, CHRM5 +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	ALDH1A2, ALDH1A3 +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	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 93