ClinVar for Gene (Select 84914) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258809	NM_032828.4(ZNF587):c.1310A>G (p.Asn437Ser)	ZNF587 (N437S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258808	NM_032828.4(ZNF587):c.437A>G (p.Lys146Arg)	ZNF587 (K145R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258806	NM_032828.4(ZNF587):c.1631G>C (p.Gly544Ala)	ZNF587 (G543A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258805	NM_032828.4(ZNF587):c.1409G>C (p.Gly470Ala)	ZNF587 (G469A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196984	NM_032828.4(ZNF587):c.765C>A (p.Phe255Leu)	ZNF587 (F255L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196983	NM_032828.4(ZNF587):c.649C>T (p.Arg217Cys)	ZNF587 (R217C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196982	NM_032828.4(ZNF587):c.481C>T (p.Arg161Cys)	ZNF587 (R161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196981	NM_032828.4(ZNF587):c.1694A>G (p.His565Arg)	ZNF587 (H564R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196980	NM_032828.4(ZNF587):c.1525G>A (p.Val509Ile)	ZNF587 (V508I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196979	NM_032828.4(ZNF587):c.151A>C (p.Ile51Leu)	ZNF587 (I51L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196978	NM_032828.4(ZNF587):c.1370T>A (p.Val457Asp)	ZNF587 (V456D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196977	NM_032828.4(ZNF587):c.1298A>G (p.Glu433Gly)	ZNF587 (E432G +1 more)	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 2607738	NM_032828.4(ZNF587):c.215C>T (p.Ser72Phe)	ZNF587 (S72F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600772	NM_032828.4(ZNF587):c.376G>A (p.Gly126Arg)	ZNF587 (G126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554545	NM_032828.4(ZNF587):c.650G>A (p.Arg217His)	ZNF587 (R217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530628	NM_032828.4(ZNF587):c.71T>C (p.Phe24Ser)	ZNF587 (F24S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527862	NM_032828.4(ZNF587):c.1504C>T (p.Leu502Phe)	ZNF587 (L502F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516637	NM_032828.4(ZNF587):c.1675C>G (p.Arg559Gly)	ZNF587 (R559G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495157	NM_032828.4(ZNF587):c.110G>A (p.Arg37Lys)	ZNF587 (R36K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494631	NM_032828.4(ZNF587):c.1033G>C (p.Gly345Arg)	ZNF587 (G344R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492146	NM_032828.4(ZNF587):c.674A>G (p.His225Arg)	ZNF587 (H225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398543	NM_032828.4(ZNF587):c.14T>C (p.Val5Ala)	LOC130065202, ZNF587 (V5A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386108	NM_032828.4(ZNF587):c.799C>T (p.Pro267Ser)	ZNF587 (P267S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385781	NM_032828.4(ZNF587):c.121C>T (p.Arg41Cys)	ZNF587 (R40C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383503	NM_032828.4(ZNF587):c.1249T>C (p.Phe417Leu)	ZNF587 (F417L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382606	NM_032828.4(ZNF587):c.423G>C (p.Gln141His)	ZNF587 (Q141H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374438	NM_032828.4(ZNF587):c.1559A>G (p.Tyr520Cys)	ZNF587 (Y520C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354711	NM_032828.4(ZNF587):c.517C>T (p.Arg173Cys)	ZNF587 (R173C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343517	NM_032828.4(ZNF587):c.1642T>A (p.Tyr548Asn)	ZNF587 (Y547N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310427	NM_032828.4(ZNF587):c.983A>G (p.Glu328Gly)	ZNF587 (E328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276302	NM_032828.4(ZNF587):c.770A>G (p.Asn257Ser)	ZNF587 (N256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258573	NM_032828.4(ZNF587):c.385T>G (p.Leu129Val)	ZNF587 (L128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219351	NM_032828.4(ZNF587):c.1285C>G (p.Leu429Val)	ZNF587 (L429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207577	NM_032828.4(ZNF587):c.820G>A (p.Gly274Arg)	ZNF587 (G274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809241	GRCh37/hg19 19q13.43(chr19:58308819-58395831)x1	ZNF552, ZNF587 +2 more	Copy number loss	not provided	GUncertain significance
Select item 779472	NM_032828.4(ZNF587):c.482G>A (p.Arg161His)	ZNF587 (R160H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774742	NM_032828.4(ZNF587):c.1494G>T (p.Gly498=)	ZNF587	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774741	NM_032828.4(ZNF587):c.986G>A (p.Cys329Tyr)	ZNF587 (C328Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769062	NM_032828.4(ZNF587):c.1356G>C (p.Leu452=)	ZNF587	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769061	NM_032828.4(ZNF587):c.947T>G (p.Leu316Arg)	ZNF587 (L315R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 688241	GRCh37/hg19 19q13.43(chr19:58054819-58410552)x3	ZIK1, ZNF134 +14 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)	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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394251	GRCh37/hg19 19q13.43(chr19:58336963-58362366)x3	ZNF587, ZNF587B	Copy number gain	See cases	GBenign
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	OSCAR, PEG3 +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	LOC130065082, LOC130065083 +806 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 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +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	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68