ClinVar for Gene (Select 201516) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199461	NM_152677.4(ZSCAN4):c.736G>C (p.Ala246Pro)	ZSCAN4 (A246P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199460	NM_152677.4(ZSCAN4):c.658A>G (p.Ile220Val)	ZSCAN4 (I220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199459	NM_152677.4(ZSCAN4):c.599C>T (p.Ser200Leu)	ZSCAN4 (S200L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199457	NM_152677.4(ZSCAN4):c.577C>G (p.Gln193Glu)	ZSCAN4 (Q193E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199456	NM_152677.4(ZSCAN4):c.574G>A (p.Glu192Lys)	ZSCAN4 (E192K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199455	NM_152677.4(ZSCAN4):c.457G>A (p.Val153Ile)	ZSCAN4 (V153I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199454	NM_152677.4(ZSCAN4):c.377G>A (p.Ser126Asn)	ZSCAN4 (S126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199453	NM_152677.4(ZSCAN4):c.1243A>G (p.Met415Val)	ZSCAN4 (M415V)	Single nucleotide variant (missense variant)	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 2613620	NM_152677.4(ZSCAN4):c.1252C>T (p.His418Tyr)	ZSCAN4 (H418Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401936	NM_152677.4(ZSCAN4):c.13C>A (p.Leu5Ile)	ZSCAN4 (L5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399080	NM_152677.4(ZSCAN4):c.1151G>A (p.Arg384Gln)	ZSCAN4 (R384Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395985	NM_152677.4(ZSCAN4):c.788T>C (p.Phe263Ser)	ZSCAN4 (F263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368447	NM_152677.4(ZSCAN4):c.203T>C (p.Ile68Thr)	ZSCAN4 (I68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360830	NM_152677.4(ZSCAN4):c.679G>A (p.Gly227Ser)	ZSCAN4 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355232	NM_152677.4(ZSCAN4):c.679G>C (p.Gly227Arg)	ZSCAN4 (G227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334479	NM_152677.4(ZSCAN4):c.1159G>C (p.Glu387Gln)	ZSCAN4 (E387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236062	NM_152677.4(ZSCAN4):c.23T>C (p.Ile8Thr)	ZSCAN4 (I8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235916	NM_152677.4(ZSCAN4):c.71C>T (p.Ala24Val)	ZSCAN4 (A24V)	Single nucleotide variant (missense variant)	not specified	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 777511	NM_152677.4(ZSCAN4):c.852G>C (p.Glu284Asp)	ZSCAN4 (E284D)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	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 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
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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 152853	GRCh38/hg38 19q13.43(chr19:57546443-57889946)x3	LOC125384550, LOC126862946 +37 more	Copy number gain	See cases	GUncertain significance
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 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 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 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 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 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 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 58806	GRCh38/hg38 19q13.43(chr19:57674103-57871262)x3	LOC125384550, LOC126862947 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46