ClinVar for Gene (Select 54807) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258804	NM_017652.4(ZNF586):c.218T>C (p.Ile73Thr)	ZNF586 (I30T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258803	NM_017652.4(ZNF586):c.130A>C (p.Met44Leu)	ZNF586 (M44L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258802	NM_017652.4(ZNF586):c.901T>G (p.Leu301Val)	ZNF586 (L258V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196976	NM_017652.4(ZNF586):c.863G>A (p.Arg288Lys)	ZNF586 (R288K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196975	NM_017652.4(ZNF586):c.793G>A (p.Val265Ile)	ZNF586 (V265I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196974	NM_017652.4(ZNF586):c.509C>T (p.Thr170Ile)	ZNF586 (T170I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196973	NM_017652.4(ZNF586):c.429T>C (p.Phe143=)	ZNF586 (F101S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196972	NM_017652.4(ZNF586):c.347G>A (p.Arg116His)	ZNF586 (A74T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196971	NM_017652.4(ZNF586):c.222T>C (p.His74=)	ZNF586 (I32T)	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 2684895	GRCh37/hg19 19q13.43(chr19:58034484-58421498)x3	ZIK1, ZNF134 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2606914	NM_017652.4(ZNF586):c.1049G>C (p.Cys350Ser)	ZNF586 (C307S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2554651	NM_017652.4(ZNF586):c.848T>G (p.Val283Gly)	ZNF586 (V283G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2522845	NM_017652.4(ZNF586):c.541A>G (p.Ile181Val)	ZNF586 (I138V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2486122	NM_017652.4(ZNF586):c.527G>A (p.Arg176Lys)	ZNF586 (G134S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480694	NM_017652.4(ZNF586):c.1021G>A (p.Gly341Arg)	ZNF586 (G298R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2472594	NM_017652.4(ZNF586):c.212C>T (p.Thr71Met)	ZNF586 (T28M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467917	NM_017652.4(ZNF586):c.818G>A (p.Arg273Gln)	ZNF586 (R230Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399482	NM_017652.4(ZNF586):c.391T>C (p.Phe131Leu)	ZNF586 (F88L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2374874	NM_017652.4(ZNF586):c.656C>T (p.Ser219Phe)	ZNF586 (S219F +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2362301	NM_017652.4(ZNF586):c.11C>T (p.Ala4Val)	ZNF586 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321895	NM_017652.4(ZNF586):c.500A>T (p.Gln167Leu)	ZNF586 (S125C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254572	NM_017652.4(ZNF586):c.153A>G (p.Ile51Met)	ZNF586 (I51M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250903	NM_017652.4(ZNF586):c.10G>T (p.Ala4Ser)	ZNF586 (A4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250255	NM_017652.4(ZNF586):c.1055A>G (p.Lys352Arg)	ZNF586 (K352R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2218139	NM_017652.4(ZNF586):c.346C>T (p.Arg116Cys)	ZNF586 (R73C +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	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 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 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
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 150291	GRCh38/hg38 19q13.43(chr19:57712726-57952004)x3	LOC125384550, LOC126862947 +23 more	Copy number gain	See cases	GLikely benign
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

ClinVar

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Links from Gene

Items: 49