ZNF551[gene] - ClinVar

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

Search results

Items: 70

	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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 152853	GRCh38/hg38 19q13.43(chr19:57546443-57889946)x3	LOC125384550, LOC126862946 +37 more	Copy number gain	See cases	GUncertain significance
Select item 58806	GRCh38/hg38 19q13.43(chr19:57674103-57871262)x3	LOC125384550, LOC126862947 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2617213	NM_138347.5(ZNF551):c.80A>G (p.Gln27Arg)	ZNF551 (Q27R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541811	NM_138347.5(ZNF551):c.82G>C (p.Gly28Arg)	ZNF551 (G28R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3258642	NM_138347.5(ZNF551):c.166G>A (p.Asp56Asn)	ZNF551 (D28N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196637	NM_138347.5(ZNF551):c.305A>G (p.His102Arg)	ZNF551 (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271340	NM_138347.5(ZNF551):c.310A>C (p.Ser104Arg)	ZNF551 (S104R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196638	NM_138347.5(ZNF551):c.356C>T (p.Ala119Val)	ZNF551 (A119V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196639	NM_138347.5(ZNF551):c.466G>A (p.Glu156Lys)	ZNF551 (E156K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623508	NM_138347.5(ZNF551):c.562C>G (p.Pro188Ala)	ZNF551 (P160A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258641	NM_138347.5(ZNF551):c.572C>T (p.Thr191Met)	ZNF551 (T163M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2361448	NM_138347.5(ZNF551):c.588C>G (p.His196Gln)	ZNF551 (H168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196640	NM_138347.5(ZNF551):c.589G>A (p.Glu197Lys)	ZNF551 (E169K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285679	NM_138347.5(ZNF551):c.607G>A (p.Glu203Lys)	ZNF551 (E175K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379814	NM_138347.5(ZNF551):c.620G>C (p.Ser207Thr)	ZNF551 (S207T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196641	NM_138347.5(ZNF551):c.626G>C (p.Ser209Thr)	ZNF551 (S181T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196642	NM_138347.5(ZNF551):c.632A>C (p.Lys211Thr)	ZNF551 (K183T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591524	NM_138347.5(ZNF551):c.643G>A (p.Ala215Thr)	ZNF551 (A187T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196643	NM_138347.5(ZNF551):c.677G>T (p.Gly226Val)	ZNF551 (G198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231284	NM_138347.5(ZNF551):c.720G>C (p.Gln240His)	ZNF551 (Q240H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331944	NM_138347.5(ZNF551):c.746G>A (p.Gly249Glu)	ZNF551 (G221E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196644	NM_138347.5(ZNF551):c.762C>A (p.Ser254Arg)	ZNF551 (S226R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492014	NM_138347.5(ZNF551):c.895A>G (p.Ile299Val)	ZNF551 (I271V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514134	NM_138347.5(ZNF551):c.934C>T (p.Arg312Cys)	ZNF551 (R284C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196645	NM_138347.5(ZNF551):c.935G>A (p.Arg312His)	ZNF551 (R312H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196646	NM_138347.5(ZNF551):c.983G>A (p.Arg328His)	ZNF551 (R300H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354881	NM_138347.5(ZNF551):c.1001G>A (p.Arg334His)	ZNF551 (R334H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364910	NM_138347.5(ZNF551):c.1093T>G (p.Cys365Gly)	ZNF551 (C337G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246787	NM_138347.5(ZNF551):c.1139G>A (p.Arg380Gln)	ZNF551 (R352Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196635	NM_138347.5(ZNF551):c.1141C>T (p.His381Tyr)	ZNF551 (H353Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515245	NM_138347.5(ZNF551):c.1223G>A (p.Arg408Gln)	ZNF551 (R408Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465018	NM_138347.5(ZNF551):c.1259A>G (p.Gln420Arg)	ZNF551 (Q420R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255675	NM_138347.5(ZNF551):c.1289G>A (p.Cys430Tyr)	ZNF551 (C430Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196636	NM_138347.5(ZNF551):c.1304T>C (p.Ile435Thr)	ZNF551 (I407T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605863	NM_138347.5(ZNF551):c.1423T>C (p.Tyr475His)	ZNF551 (Y475H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350338	NM_138347.5(ZNF551):c.1457G>A (p.Arg486His)	ZNF551 (R486H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309900	NM_138347.5(ZNF551):c.1564C>T (p.Arg522Trp)	ZNF551 (R494W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258643	NM_138347.5(ZNF551):c.1631C>T (p.Ser544Phe)	ZNF551 (S544F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475629	NM_138347.5(ZNF551):c.1658A>C (p.His553Pro)	ZNF551 (H525P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387387	NM_138347.5(ZNF551):c.1685G>A (p.Ser562Asn)	ZNF551 (S534N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241374	NM_138347.5(ZNF551):c.1687G>C (p.Glu563Gln)	ZNF551 (E535Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592003	NM_138347.5(ZNF551):c.1773A>T (p.Glu591Asp)	ZNF551 (E563D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392203	NM_138347.5(ZNF551):c.1868C>T (p.Pro623Leu)	ZNF551 (P623L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597126	NM_138347.5(ZNF551):c.1937G>A (p.Ser646Asn)	ZNF551 (S618N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230497	NM_138347.5(ZNF551):c.1971C>A (p.Asn657Lys)	ZNF551 (N629K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684896	GRCh37/hg19 19q13.43(chr19:58186264-58449066)x3	ZNF154, ZNF417 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684895	GRCh37/hg19 19q13.43(chr19:58034484-58421498)x3	ZIK1, ZNF134 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1340119	GRCh37/hg19 19q13.43(chr19:58026985-58255427)x3	ZIK1, ZNF134 +9 more	Copy number gain	not provided	GLikely benign
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 688241	GRCh37/hg19 19q13.43(chr19:58054819-58410552)x3	ZIK1, ZNF134 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	not provided	GUncertain significance
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 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
Select item 560059	Single allele	VN1R1, ZIK1 +12 more	Duplication	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
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 441564	GRCh37/hg19 19q13.43(chr19:58026984-58246176)x1	ZIK1, ZNF134 +9 more	Copy number loss	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

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: 70