ClinVar for Gene (Select 348327) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258568	NM_001321981.2(ZNF530):c.1256G>A (p.Arg419Gln)	ZNF530 (R419Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3258567	NM_001321981.2(ZNF530):c.524G>A (p.Arg175Gln)	ZNF530 (R175Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3258566	NM_001321981.2(ZNF530):c.625A>G (p.Ser209Gly)	ZNF530 (S209G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196510	NM_001321981.2(ZNF530):c.320A>G (p.Asp107Gly)	ZNF530 (D107G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196509	NM_001321981.2(ZNF530):c.109G>A (p.Val37Ile)	ZNF530 (V69I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196508	NM_001321981.2(ZNF530):c.1649C>A (p.Ser550Tyr)	ZNF530 (S550Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196507	NM_001321981.2(ZNF530):c.1453C>A (p.Pro485Thr)	ZNF530 (P485T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196506	NM_001321981.2(ZNF530):c.1406G>A (p.Arg469Gln)	ZNF530 (R501Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3196505	NM_001321981.2(ZNF530):c.30G>C (p.Met10Ile)	ZNF530 (M42I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196504	NM_001321981.2(ZNF530):c.1085T>C (p.Ile362Thr)	ZNF530 (I394T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196503	NM_001321981.2(ZNF530):c.1006C>A (p.His336Asn)	ZNF530 (H336N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3025798	NM_001321981.2(ZNF530):c.720G>C (p.Gly240=)	ZNF530	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025080	NM_001321981.2(ZNF530):c.760A>C (p.Arg254=)	ZNF530	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025079	NM_001321981.2(ZNF530):c.756C>T (p.His252=)	ZNF530	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2519639	NM_001321981.2(ZNF530):c.1037A>T (p.Tyr346Phe)	ZNF530 (Y378F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510120	NM_001321981.2(ZNF530):c.734G>A (p.Arg245His)	ZNF530 (R278H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464020	NM_001321981.2(ZNF530):c.815G>T (p.Arg272Leu)	ZNF530 (R304L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399015	NM_001321981.2(ZNF530):c.43G>A (p.Ala15Thr)	ZNF530 (A15T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393693	NM_001321981.2(ZNF530):c.653G>A (p.Ser218Asn)	ZNF530 (S251N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382899	NM_001321981.2(ZNF530):c.233C>A (p.Ala78Asp)	ZNF530 (A78D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374222	NM_001321981.2(ZNF530):c.277G>A (p.Asp93Asn)	ZNF530 (D93N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373646	NM_001321981.2(ZNF530):c.917A>G (p.Tyr306Cys)	ZNF530 (Y338C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353100	NM_001321981.2(ZNF530):c.26T>C (p.Val9Ala)	ZNF530 (V9A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299577	NM_001321981.2(ZNF530):c.847G>A (p.Val283Ile)	ZNF530 (V315I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234562	NM_001321981.2(ZNF530):c.1342C>T (p.His448Tyr)	ZNF530 (H448Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225796	NM_001321981.2(ZNF530):c.815G>A (p.Arg272His)	ZNF530 (R305H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221147	NM_001321981.2(ZNF530):c.193C>T (p.Pro65Ser)	ZNF530 (P98S +2 more)	Single nucleotide variant (missense variant +1 more)	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 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)	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 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	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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52