25925[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 60206	GRCh38/hg38 18q11.2(chr18:24411993-26628123)x3	LINC01894, LINC01915 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3258536	NM_015461.3(ZNF521):c.3916A>G (p.Met1306Val)	ZNF521 (M1306V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294216	NM_015461.3(ZNF521):c.3735A>G (p.Ile1245Met)	ZNF521 (I1245M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553394	NM_015461.3(ZNF521):c.3634G>A (p.Val1212Ile)	ZNF521 (V992I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536087	NM_015461.3(ZNF521):c.3541A>G (p.Met1181Val)	ZNF521 (M961V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546983	NM_015461.3(ZNF521):c.3506A>G (p.Asn1169Ser)	ZNF521 (N1169S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256047	NM_015461.3(ZNF521):c.3422C>G (p.Ser1141Cys)	ZNF521 (S1141C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476494	NM_015461.3(ZNF521):c.3398T>C (p.Val1133Ala)	ZNF521 (V913A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196445	NM_015461.3(ZNF521):c.3392G>A (p.Gly1131Asp)	ZNF521 (G1131D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591655	NM_015461.3(ZNF521):c.3385G>A (p.Gly1129Arg)	ZNF521 (G909R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599954	NM_015461.3(ZNF521):c.3307G>A (p.Ala1103Thr)	ZNF521 (A1103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557356	NM_015461.3(ZNF521):c.3227C>G (p.Ser1076Cys)	ZNF521 (S856C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526641	NM_015461.3(ZNF521):c.3127A>G (p.Met1043Val)	ZNF521 (M823V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619427	NM_015461.3(ZNF521):c.3095C>T (p.Thr1032Ile)	ZNF521 (T1032I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213662	NM_015461.3(ZNF521):c.3061C>T (p.Arg1021Cys)	ZNF521 (R1021C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554744	NM_015461.3(ZNF521):c.3050T>G (p.Leu1017Arg)	ZNF521 (L797R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613057	NM_015461.3(ZNF521):c.2987C>T (p.Pro996Leu)	ZNF521 (P776L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285185	NM_015461.3(ZNF521):c.2878A>C (p.Met960Leu)	ZNF521 (M960L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286126	NM_015461.3(ZNF521):c.2837G>A (p.Arg946Gln)	ZNF521 (R726Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554397	NM_015461.3(ZNF521):c.2825A>T (p.Glu942Val)	ZNF521 (E722V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196442	NM_015461.3(ZNF521):c.2813C>A (p.Thr938Asn)	ZNF521 (T718N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258538	NM_015461.3(ZNF521):c.2737C>A (p.Pro913Thr)	ZNF521 (P693T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412247	NM_015461.3(ZNF521):c.2659G>A (p.Gly887Ser)	ZNF521 (G887S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589877	NM_015461.3(ZNF521):c.2653A>G (p.Met885Val)	ZNF521 (M885V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396801	NM_015461.3(ZNF521):c.2636T>C (p.Val879Ala)	ZNF521 (V659A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408432	NM_015461.3(ZNF521):c.2635G>A (p.Val879Ile)	ZNF521 (V659I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196441	NM_015461.3(ZNF521):c.2597A>G (p.Gln866Arg)	ZNF521 (Q866R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393513	NM_015461.3(ZNF521):c.2588C>G (p.Thr863Ser)	ZNF521 (T643S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484456	NM_015461.3(ZNF521):c.2372C>A (p.Ser791Tyr)	ZNF521 (S791Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258534	NM_015461.3(ZNF521):c.2365G>A (p.Gly789Ser)	ZNF521 (G569S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560245	NM_015461.3(ZNF521):c.2211T>G (p.Ile737Met)	ZNF521 (I737M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2394203	NM_015461.3(ZNF521):c.1975A>G (p.Thr659Ala)	ZNF521 (T659A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196439	NM_015461.3(ZNF521):c.1949A>C (p.Gln650Pro)	ZNF521 (Q430P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299237	NM_015461.3(ZNF521):c.1918G>T (p.Gly640Cys)	ZNF521 (G640C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196438	NM_015461.3(ZNF521):c.1885C>T (p.Arg629Cys)	ZNF521 (R409C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607065	NM_015461.3(ZNF521):c.1781A>G (p.Tyr594Cys)	ZNF521 (Y594C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258535	NM_015461.3(ZNF521):c.1720G>A (p.Val574Ile)	ZNF521 (V574I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374813	NM_015461.3(ZNF521):c.1576T>G (p.Ser526Ala)	ZNF521 (S306A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321280	NM_015461.3(ZNF521):c.1517C>G (p.Ala506Gly)	ZNF521 (A286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272608	NM_015461.3(ZNF521):c.1460A>G (p.Asn487Ser)	ZNF521 (N487S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373299	NM_015461.3(ZNF521):c.1450G>A (p.Glu484Lys)	ZNF521 (E264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606558	NM_015461.3(ZNF521):c.1434G>C (p.Gln478His)	ZNF521 (Q258H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540222	NM_015461.3(ZNF521):c.1349A>G (p.Tyr450Cys)	ZNF521 (Y230C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265730	NM_015461.3(ZNF521):c.1306G>A (p.Ala436Thr)	ZNF521 (A216T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519001	NM_015461.3(ZNF521):c.1301A>G (p.Glu434Gly)	ZNF521 (E214G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196436	NM_015461.3(ZNF521):c.1282A>G (p.Met428Val)	ZNF521 (M428V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596659	NM_015461.3(ZNF521):c.1169C>T (p.Thr390Ile)	ZNF521 (T170I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403968	NM_015461.3(ZNF521):c.1159G>A (p.Ala387Thr)	ZNF521 (A387T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590272	NM_015461.3(ZNF521):c.1136A>G (p.Lys379Arg)	ZNF521 (K379R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299781	NM_015461.3(ZNF521):c.1085A>G (p.Asn362Ser)	ZNF521 (N142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245765	NM_015461.3(ZNF521):c.1043C>T (p.Thr348Met)	ZNF521 (T128M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318147	NM_015461.3(ZNF521):c.1016A>T (p.Asn339Ile)	ZNF521 (N339I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213501	NM_015461.3(ZNF521):c.1016A>G (p.Asn339Ser)	ZNF521 (N339S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681672	NM_015461.3(ZNF521):c.1005G>A (p.Pro335=)	ZNF521	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2312350	NM_015461.3(ZNF521):c.902A>G (p.Glu301Gly)	ZNF521 (E81G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196450	NM_015461.3(ZNF521):c.883T>C (p.Ser295Pro)	ZNF521 (S295P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232660	NM_015461.3(ZNF521):c.862G>A (p.Glu288Lys)	ZNF521 (E288K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483948	NM_015461.3(ZNF521):c.836C>T (p.Ala279Val)	ZNF521 (A279V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196449	NM_015461.3(ZNF521):c.811G>A (p.Glu271Lys)	ZNF521 (E271K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196448	NM_015461.3(ZNF521):c.700G>A (p.Gly234Ser)	ZNF521 (G14S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560244	NM_015461.3(ZNF521):c.698C>T (p.Ser233Phe)	ZNF521 (S233F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3196447	NM_015461.3(ZNF521):c.661A>T (p.Met221Leu)	ZNF521 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196446	NM_015461.3(ZNF521):c.493A>G (p.Ile165Val)	ZNF521 (I165V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2275065	NM_015461.3(ZNF521):c.482G>A (p.Arg161Gln)	ZNF521 (R161Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196443	NM_015461.3(ZNF521):c.316G>A (p.Asp106Asn)	ZNF521 (D106N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 773597	NM_015461.3(ZNF521):c.315C>T (p.Cys105=)	ZNF521	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2267470	NM_015461.3(ZNF521):c.181G>C (p.Asp61His)	ZNF521 (D61H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 741311	NM_015461.3(ZNF521):c.180C>T (p.Ser60=)	ZNF521	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2299319	NM_015461.3(ZNF521):c.178A>G (p.Ser60Gly)	ZNF521 (S60G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3258537	NM_015461.3(ZNF521):c.129C>A (p.Asp43Glu)	ZNF521 (D43E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196451	NM_015461.3(ZNF521):c.92G>A (p.Cys31Tyr)	ZNF521 (C31Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 686334	GRCh37/hg19 18q11.2(chr18:22855408-23457445)x3	ZNF521	Copy number gain	not provided	GUncertain significance
Select item 564547	GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1	HRH4, ZNF521 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic

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