FUZ[gene] - ClinVar

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

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 591032	NM_025129.5(FUZ):c.1253_1255del (p.Leu418_Ter419delinsArg)	FUZ	Deletion (stop lost +1 more)	not provided	GUncertain significance
Select item 446002	NM_025129.5(FUZ):c.1238C>A (p.Ala413Asp)	FUZ (A413D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 31936	NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln)	FUZ (R404Q +3 more)	Single nucleotide variant (missense variant +1 more)	Neural tube defects, susceptibility to	Grisk factor
Select item 3059634	NM_025129.5(FUZ):c.1199C>T (p.Thr400Ile)	FUZ (T350I +3 more)	Single nucleotide variant (missense variant +1 more)	FUZ-related disorder	GBenign
Select item 771526	NM_025129.5(FUZ):c.1168CTG[4] (p.Leu394del)	FUZ (L344del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 3280235	NM_025129.5(FUZ):c.1175T>C (p.Leu392Pro)	FUZ (L392P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097543	NM_025129.5(FUZ):c.1136G>A (p.Arg379His)	FUZ (R343H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053387	NM_025129.5(FUZ):c.1104G>T (p.Val368=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	FUZ-related disorder	GLikely benign
Select item 3097542	NM_025129.5(FUZ):c.1096T>C (p.Tyr366His)	FUZ (Y330H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462688	NM_025129.5(FUZ):c.1081C>A (p.Leu361Met)	FUZ (L361M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 707831	NM_025129.5(FUZ):c.1060G>A (p.Asp354Asn)	FUZ (D355N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 31935	NM_025129.5(FUZ):c.1060G>T (p.Asp354Tyr)	FUZ (D354Y +3 more)	Single nucleotide variant (missense variant +1 more)	Neural tube defects, susceptibility to	Grisk factor
Select item 769462	NM_025129.5(FUZ):c.1002T>C (p.Tyr334=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3097549	NM_025129.5(FUZ):c.994A>G (p.Asn332Asp)	FUZ (N282D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2497718	NM_025129.5(FUZ):c.961C>G (p.Pro321Ala)	FUZ (P271A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3280234	NM_025129.5(FUZ):c.950G>A (p.Gly317Glu)	FUZ (G281E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 762319	NM_025129.5(FUZ):c.946T>C (p.Leu316=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708252	NM_025129.5(FUZ):c.945C>T (p.Pro315=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3050950	NM_025129.5(FUZ):c.900G>A (p.Leu300=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	FUZ-related disorder	GLikely benign
Select item 2492045	NM_025129.5(FUZ):c.892G>C (p.Gly298Arg)	FUZ (G248R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097548	NM_025129.5(FUZ):c.890T>A (p.Leu297His)	FUZ (L297H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 591414	NM_025129.5(FUZ):c.850dup (p.Arg284fs)	FUZ (R234fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 446687	NM_025129.5(FUZ):c.851G>T (p.Arg284Leu)	FUZ (R284L +2 more)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 2520887	NM_025129.5(FUZ):c.827G>A (p.Arg276Gln)	FUZ (R226Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210165	NM_025129.5(FUZ):c.824T>G (p.Leu275Trp)	FUZ (L239W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097547	NM_025129.5(FUZ):c.807G>T (p.Gln269His)	FUZ (Q219H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097545	NM_025129.5(FUZ):c.751G>C (p.Gly251Arg)	FUZ, LOC105372435 (G215R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 591643	NM_025129.5(FUZ):c.716_727del (p.Thr239_Pro242del)	FUZ, LOC105372435	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2399004	NM_025129.5(FUZ):c.694C>T (p.Pro232Ser)	FUZ, LOC105372435 (P182S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055665	NM_025129.5(FUZ):c.672G>A (p.Leu224=)	FUZ, LOC105372435 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	FUZ-related disorder	GBenign
Select item 3097544	NM_025129.5(FUZ):c.638C>T (p.Pro213Leu)	FUZ, LOC105372435 +1 more (P177L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2581137	NM_025129.5(FUZ):c.625_636del (p.Val209_Leu212del)	FUZ, LOC105372435 +1 more	Deletion (inframe_deletion +1 more)	See cases	GUncertain significance
Select item 592002	NM_025129.5(FUZ):c.630dup (p.Ser211fs)	FUZ, LOC105372435 +1 more (S175fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2463618	NM_025129.5(FUZ):c.625G>T (p.Val209Leu)	FUZ, LOC105372435 +1 more (V159L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581136	NM_025129.5(FUZ):c.601G>A (p.Glu201Lys)	FUZ, LOC105372435 +1 more (E151K +2 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3348114	NM_025129.5(FUZ):c.505G>T (p.Gly169Trp)	FUZ, LOC105372435 (G119W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	FUZ-related disorder	GUncertain significance
Select item 2237398	NM_025129.5(FUZ):c.499C>G (p.Leu167Val)	FUZ, LOC105372435 (L117V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746082	NM_025129.5(FUZ):c.493-4C>A	FUZ, LOC105372435	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2272806	NM_025129.5(FUZ):c.463G>A (p.Val155Met)	FUZ (V119M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737945	NM_025129.5(FUZ):c.462C>T (p.Cys154=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743170	NM_025129.5(FUZ):c.456G>A (p.Val152=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1329476	NM_025129.5(FUZ):c.446C>T (p.Thr149Ile)	FUZ (T113I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance; association
Select item 2547591	NM_025129.5(FUZ):c.436G>A (p.Gly146Arg)	FUZ (G146R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631951	NM_025129.5(FUZ):c.434T>A (p.Ile145Asn)	FUZ (I109N +2 more)	Single nucleotide variant (missense variant +1 more)	FUZ-related disorder	GUncertain significance
Select item 2590018	NM_025129.5(FUZ):c.413T>C (p.Phe138Ser)	FUZ (F138S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238038	NM_025129.5(FUZ):c.406G>A (p.Asp136Asn)	FUZ (D86N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790208	NM_025129.5(FUZ):c.405C>T (p.Ile135=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	Neural tube defect +1 more	GBenign/Likely benign
Select item 592050	NM_025129.5(FUZ):c.387+2T>G	FUZ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2363132	NM_025129.5(FUZ):c.366G>C (p.Glu122Asp)	FUZ (E86D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721888	NM_025129.5(FUZ):c.360C>T (p.Asn120=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2483985	NM_025129.5(FUZ):c.332G>T (p.Gly111Val)	FUZ (G75V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039517	NM_025129.5(FUZ):c.319-4C>G	FUZ	Single nucleotide variant (intron variant)	FUZ-related disorder	GLikely benign
Select item 591422	NM_025129.5(FUZ):c.234-2A>G	FUZ	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 3251308	NM_025129.5(FUZ):c.233+4C>G	FUZ	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 749525	NM_025129.5(FUZ):c.204G>A (p.Thr68=)	FUZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 31934	NM_025129.5(FUZ):c.115C>T (p.Pro39Ser)	FUZ (P39S)	Single nucleotide variant (missense variant +2 more)	Neural tube defects, susceptibility to	Grisk factor
Select item 727034	NM_025129.5(FUZ):c.112-9C>G	FUZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446675	NM_025129.5(FUZ):c.98_111+9del	FUZ	Deletion (intron variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 787142	NM_025129.5(FUZ):c.100G>T (p.Ala34Ser)	FUZ (A34S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2382385	NM_025129.5(FUZ):c.86G>A (p.Arg29His)	FUZ (R29H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2320473	NM_025129.5(FUZ):c.78G>C (p.Arg26Ser)	FUZ (R26S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 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: 74