ZIK1[gene] - ClinVar

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Items: 40

	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	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +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	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +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 2607679	NM_001010879.4(ZIK1):c.13G>A (p.Ala5Thr)	ZIK1 (A5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342351	NM_001010879.4(ZIK1):c.97G>A (p.Ala33Thr)	ZIK1 (A33T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2402844	NM_001010879.4(ZIK1):c.229A>C (p.Thr77Pro)	ZIK1 (T22P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611987	NM_001010879.4(ZIK1):c.309G>C (p.Glu103Asp)	ZIK1 (E90D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460988	NM_001010879.4(ZIK1):c.476T>C (p.Leu159Pro)	ZIK1 (L104P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389778	NM_001010879.4(ZIK1):c.503G>A (p.Arg168His)	ZIK1 (R155H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297427	NM_001010879.4(ZIK1):c.514G>T (p.Val172Phe)	ZIK1 (V159F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620202	NM_001010879.4(ZIK1):c.581C>G (p.Pro194Arg)	ZIK1 (P91R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309671	NM_001010879.4(ZIK1):c.694G>T (p.Val232Phe)	ZIK1 (V219F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267320	NM_001010879.4(ZIK1):c.740C>T (p.Ala247Val)	ZIK1 (A144V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294386	NM_001010879.4(ZIK1):c.791A>G (p.Glu264Gly)	ZIK1 (E251G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562231	NM_001010879.4(ZIK1):c.796C>G (p.Pro266Ala)	ZIK1 (P163A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355866	NM_001010879.4(ZIK1):c.871G>A (p.Gly291Arg)	ZIK1 (G278R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613862	NM_001010879.4(ZIK1):c.1088G>A (p.Ser363Asn)	ZIK1 (S260N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345339	NM_001010879.4(ZIK1):c.1277G>A (p.Arg426Gln)	ZIK1 (R371Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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

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Items: 40