ClinVar for Gene (Select 55762) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259278	NM_018260.3(ZNF701):c.469G>A (p.Glu157Lys)	ZNF701 (E157K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259277	NM_018260.3(ZNF701):c.317C>T (p.Thr106Ile)	ZNF701 (T172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259276	NM_018260.3(ZNF701):c.148T>G (p.Ser50Ala)	ZNF701 (S116A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259274	NM_018260.3(ZNF701):c.1285C>T (p.Arg429Cys)	ZNF701 (R495C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259273	NM_018260.3(ZNF701):c.-32G>A	ZNF701 (R56Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259272	NM_018260.3(ZNF701):c.-42G>A	ZNF701 (E53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259271	NM_018260.3(ZNF701):c.784A>G (p.Arg262Gly)	ZNF701 (R328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197858	NM_018260.3(ZNF701):c.649C>T (p.Arg217Cys)	ZNF701 (R217C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197857	NM_018260.3(ZNF701):c.530C>G (p.Ser177Cys)	ZNF701 (S177C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197856	NM_018260.3(ZNF701):c.455A>G (p.His152Arg)	ZNF701 (H152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197855	NM_018260.3(ZNF701):c.231T>G (p.His77Gln)	ZNF701 (H143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197854	NM_018260.3(ZNF701):c.203T>C (p.Val68Ala)	ZNF701 (V134A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197853	NM_018260.3(ZNF701):c.1379A>T (p.His460Leu)	ZNF701 (H526L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197852	NM_018260.3(ZNF701):c.1367A>G (p.His456Arg)	ZNF701 (H456R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197851	NM_018260.3(ZNF701):c.1120G>A (p.Val374Ile)	ZNF701 (V440I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197850	NM_018260.3(ZNF701):c.1040T>A (p.Ile347Asn)	ZNF701 (I413N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2614580	NM_018260.3(ZNF701):c.983G>C (p.Cys328Ser)	ZNF701 (C394S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608865	NM_018260.3(ZNF701):c.1130C>A (p.Thr377Asn)	ZNF701 (T443N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603618	NM_018260.3(ZNF701):c.899G>T (p.Cys300Phe)	ZNF701 (C366F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597662	NM_018260.3(ZNF701):c.530C>T (p.Ser177Phe)	ZNF701 (S177F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568752	NM_018260.3(ZNF701):c.751G>T (p.Asp251Tyr)	ZNF701 (D317Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545161	NM_018260.3(ZNF701):c.1186T>C (p.Ser396Pro)	ZNF701 (S462P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527583	NM_018260.3(ZNF701):c.1235G>C (p.Cys412Ser)	ZNF701 (C478S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520523	NM_018260.3(ZNF701):c.1226G>A (p.Arg409His)	ZNF701 (R475H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489302	NM_018260.3(ZNF701):c.14A>C (p.Gln5Pro)	ZNF701 (Q5P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479282	NM_018260.3(ZNF701):c.625C>T (p.His209Tyr)	ZNF701 (H209Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465827	NM_018260.3(ZNF701):c.-71-1733C>T	ZNF701 (R35C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2459621	NM_018260.3(ZNF701):c.230A>T (p.His77Leu)	ZNF701 (H77L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459620	NM_018260.3(ZNF701):c.227T>G (p.Ile76Arg)	ZNF701 (I142R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412191	NM_018260.3(ZNF701):c.536G>A (p.Arg179Gln)	ZNF701 (R245Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401301	NM_018260.3(ZNF701):c.-2G>A	ZNF701 (G66E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390419	NM_018260.3(ZNF701):c.205G>A (p.Val69Ile)	ZNF701 (V69I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352612	NM_018260.3(ZNF701):c.1261C>T (p.His421Tyr)	ZNF701 (H421Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348242	NM_018260.3(ZNF701):c.560G>A (p.Arg187His)	ZNF701 (R253H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342485	NM_018260.3(ZNF701):c.947A>G (p.His316Arg)	ZNF701 (H316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303727	NM_018260.3(ZNF701):c.944G>A (p.Arg315His)	ZNF701 (R381H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288793	NM_018260.3(ZNF701):c.458T>C (p.Ile153Thr)	ZNF701 (I153T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279735	NM_018260.3(ZNF701):c.-71-1723C>T	ZNF701 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278396	NM_018260.3(ZNF701):c.873T>G (p.Ile291Met)	ZNF701 (I357M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267991	NM_018260.3(ZNF701):c.772C>T (p.Leu258Phe)	ZNF701 (L324F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263350	NM_018260.3(ZNF701):c.387G>T (p.Arg129Ser)	ZNF701 (R195S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263262	NM_018260.3(ZNF701):c.1325A>C (p.Glu442Ala)	ZNF701 (E442A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257887	NM_018260.3(ZNF701):c.821A>C (p.Glu274Ala)	ZNF701 (E340A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256532	NM_018260.3(ZNF701):c.551C>A (p.Pro184Gln)	ZNF701 (P184Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243139	NM_018260.3(ZNF701):c.793A>G (p.Thr265Ala)	ZNF701 (T331A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239711	NM_018260.3(ZNF701):c.-14C>T	ZNF701 (A62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230181	NM_018260.3(ZNF701):c.1301G>C (p.Gly434Ala)	ZNF701 (G500A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226411	NM_018260.3(ZNF701):c.1128C>G (p.His376Gln)	ZNF701 (H442Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209998	NM_018260.3(ZNF701):c.1381A>C (p.Thr461Pro)	ZNF701 (T527P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208663	NM_018260.3(ZNF701):c.502A>G (p.Ile168Val)	ZNF701 (I168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980769	GRCh37/hg19 19q13.41(chr19:53057478-53428612)x1	ZNF28, ZNF320 +7 more	Copy number loss	not provided	GLikely benign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
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 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 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

ClinVar

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Links from Gene

Items: 66