ZNF418[gene] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +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 150291	GRCh38/hg38 19q13.43(chr19:57712726-57952004)x3	LOC125384550, LOC126862947 +23 more	Copy number gain	See cases	GLikely benign
Select item 2212961	NM_133460.3(ZNF418):c.1999A>G (p.Arg667Gly)	ZNF418 (R688G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593234	NM_133460.3(ZNF418):c.1993C>T (p.His665Tyr)	ZNF418 (H666Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406445	NM_133460.3(ZNF418):c.1976G>C (p.Ser659Thr)	ZNF418 (S659T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406444	NM_133460.3(ZNF418):c.1973G>A (p.Arg658Gln)	ZNF418 (R573Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550255	NM_133460.3(ZNF418):c.1946G>T (p.Cys649Phe)	ZNF418 (C650F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328075	NM_133460.3(ZNF418):c.1870T>C (p.Cys624Arg)	ZNF418 (C625R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982221	NM_133460.3(ZNF418):c.1757C>T (p.Thr586Ile)	ZNF418 (T501I +3 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 3195636	NM_133460.3(ZNF418):c.1583A>G (p.His528Arg)	ZNF418 (H528R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195635	NM_133460.3(ZNF418):c.1580G>A (p.Arg527Gln)	ZNF418 (R528Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511184	NM_133460.3(ZNF418):c.1495G>A (p.Val499Ile)	ZNF418 (V520I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462955	NM_133460.3(ZNF418):c.1459T>C (p.Cys487Arg)	ZNF418 (C402R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195634	NM_133460.3(ZNF418):c.1411G>A (p.Glu471Lys)	ZNF418 (E472K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195633	NM_133460.3(ZNF418):c.1337G>A (p.Arg446Gln)	ZNF418 (R361Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360279	NM_133460.3(ZNF418):c.1318A>G (p.Asn440Asp)	ZNF418 (N355D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392394	NM_133460.3(ZNF418):c.1279G>A (p.Glu427Lys)	ZNF418 (E342K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195631	NM_133460.3(ZNF418):c.1226G>A (p.Arg409Gln)	ZNF418 (R324Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337405	NM_133460.3(ZNF418):c.1192T>C (p.Tyr398His)	ZNF418 (Y399H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195630	NM_133460.3(ZNF418):c.1185A>C (p.Glu395Asp)	ZNF418 (E396D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263545	NM_133460.3(ZNF418):c.1093A>G (p.Thr365Ala)	ZNF418 (T365A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195629	NM_133460.3(ZNF418):c.1027G>C (p.Glu343Gln)	ZNF418 (E258Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591469	NM_133460.3(ZNF418):c.917G>A (p.Arg306Gln)	ZNF418 (R306Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278914	NM_133460.3(ZNF418):c.868G>C (p.Glu290Gln)	ZNF418 (E205Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216395	NM_133460.3(ZNF418):c.853C>T (p.Pro285Ser)	ZNF418 (P285S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195639	NM_133460.3(ZNF418):c.833G>A (p.Arg278Gln)	ZNF418 (R299Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588939	NM_133460.3(ZNF418):c.773A>G (p.Tyr258Cys)	ZNF418 (Y258C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195638	NM_133460.3(ZNF418):c.728A>G (p.Asp243Gly)	ZNF418 (D158G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518617	NM_133460.3(ZNF418):c.650T>C (p.Val217Ala)	ZNF418 (V217A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211025	NM_133460.3(ZNF418):c.631C>T (p.His211Tyr)	ZNF418 (H232Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329201	NM_133460.3(ZNF418):c.605A>G (p.His202Arg)	ZNF418 (H117R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558796	NM_133460.3(ZNF418):c.604C>T (p.His202Tyr)	ZNF418 (H223Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236966	NM_133460.3(ZNF418):c.574T>C (p.Cys192Arg)	ZNF418 (C107R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541870	NM_133460.3(ZNF418):c.297T>A (p.Asp99Glu)	ZNF418 (D120E +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535608	NM_133460.3(ZNF418):c.287A>C (p.His96Pro)	ZNF418 (H11P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719583	NM_133460.3(ZNF418):c.202C>T (p.Gln68Ter)	ZNF418 (Q89* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2476404	NM_133460.3(ZNF418):c.163G>T (p.Ala55Ser)	ZNF418 (A76S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372461	NM_133460.3(ZNF418):c.125C>A (p.Ser42Tyr)	ZNF418 (S42Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195632	NM_133460.3(ZNF418):c.122T>C (p.Ile41Thr)	ZNF418 (I41T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195640	NM_133460.3(ZNF418):c.83G>T (p.Cys28Phe)	ZNF418 (C49F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551728	NM_133460.3(ZNF418):c.58A>G (p.Ser20Gly)	ZNF418 (S21G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684896	GRCh37/hg19 19q13.43(chr19:58186264-58449066)x3	ZNF154, ZNF417 +10 more	Copy number gain	not provided	GUncertain significance
Select item 689096	GRCh37/hg19 19q13.43(chr19:58369898-58590859)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 687845	GRCh37/hg19 19q13.43(chr19:58369898-58590924)x3	C19orf18, ZNF135 +7 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 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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 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: 62