FIZ1[gene] - ClinVar

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Items: 55

	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 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 2494709	NM_032836.3(FIZ1):c.1222G>A (p.Gly408Ser)	FIZ1 (G408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372087	NM_032836.3(FIZ1):c.1163A>C (p.Glu388Ala)	FIZ1 (E388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095275	NM_032836.3(FIZ1):c.1120G>C (p.Glu374Gln)	FIZ1 (E374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363192	NM_032836.3(FIZ1):c.1114G>A (p.Ala372Thr)	FIZ1 (A372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095274	NM_032836.3(FIZ1):c.1057T>G (p.Ser353Ala)	FIZ1 (S353A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095273	NM_032836.3(FIZ1):c.1048G>A (p.Glu350Lys)	FIZ1 (E350K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312770	NM_032836.3(FIZ1):c.959C>A (p.Ala320Glu)	FIZ1 (A320E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407273	NM_032836.3(FIZ1):c.901G>A (p.Gly301Ser)	FIZ1 (G301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236362	NM_032836.3(FIZ1):c.898G>A (p.Gly300Ser)	FIZ1 (G300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252759	NM_032836.3(FIZ1):c.884T>G (p.Leu295Arg)	FIZ1 (L295R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2590626	NM_032836.3(FIZ1):c.805G>A (p.Ala269Thr)	FIZ1 (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095281	NM_032836.3(FIZ1):c.751G>T (p.Asp251Tyr)	FIZ1 (D251Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278914	NM_032836.3(FIZ1):c.745A>G (p.Thr249Ala)	FIZ1 (T249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509900	NM_032836.3(FIZ1):c.743T>G (p.Leu248Arg)	FIZ1 (L248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331976	NM_032836.3(FIZ1):c.692C>A (p.Pro231Gln)	FIZ1 (P231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525097	NM_032836.3(FIZ1):c.667A>C (p.Thr223Pro)	FIZ1 (T223P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464727	NM_032836.3(FIZ1):c.658G>A (p.Ala220Thr)	FIZ1 (A220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623312	NM_032836.3(FIZ1):c.616G>A (p.Ala206Thr)	FIZ1 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258403	NM_032836.3(FIZ1):c.602C>T (p.Ala201Val)	FIZ1 (A201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095280	NM_032836.3(FIZ1):c.598T>C (p.Phe200Leu)	FIZ1 (F200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095279	NM_032836.3(FIZ1):c.586T>G (p.Ser196Ala)	FIZ1 (S196A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095278	NM_032836.3(FIZ1):c.577G>A (p.Ala193Thr)	FIZ1 (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515137	NM_032836.3(FIZ1):c.548G>A (p.Ser183Asn)	FIZ1 (S183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210443	NM_032836.3(FIZ1):c.494G>C (p.Gly165Ala)	FIZ1 (G165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606611	NM_032836.3(FIZ1):c.451T>C (p.Cys151Arg)	FIZ1 (C151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600702	NM_032836.3(FIZ1):c.441G>C (p.Leu147Phe)	FIZ1 (L147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095276	NM_032836.3(FIZ1):c.208C>A (p.Leu70Met)	FIZ1 (L70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206945	NM_032836.3(FIZ1):c.20C>T (p.Pro7Leu)	FIZ1 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
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 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	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 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	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
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 55