ClinVar for Gene (Select 84838) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258417	NM_032752.3(ZNF496):c.398A>G (p.His133Arg)	ZNF496 (H133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258416	NM_032752.3(ZNF496):c.1019C>T (p.Pro340Leu)	ZNF496 (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196186	NM_032752.3(ZNF496):c.968C>T (p.Ala323Val)	ZNF496 (A323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196185	NM_032752.3(ZNF496):c.938G>T (p.Arg313Leu)	ZNF496 (R313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196184	NM_032752.3(ZNF496):c.428G>A (p.Gly143Glu)	ZNF496 (G143E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196183	NM_032752.3(ZNF496):c.419T>C (p.Ile140Thr)	ZNF496 (I140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196182	NM_032752.3(ZNF496):c.365G>A (p.Arg122Gln)	ZNF496 (R122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196181	NM_032752.3(ZNF496):c.32C>T (p.Ala11Val)	ZNF496 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196180	NM_032752.3(ZNF496):c.328G>A (p.Gly110Arg)	ZNF496 (G110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196179	NM_032752.3(ZNF496):c.202G>A (p.Gly68Arg)	ZNF496 (G68R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196178	NM_032752.3(ZNF496):c.1754A>G (p.Asn585Ser)	ZNF496 (N585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196177	NM_032752.3(ZNF496):c.1675G>A (p.Val559Ile)	ZNF496 (V559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196175	NM_032752.3(ZNF496):c.1652G>A (p.Arg551Gln)	ZNF496 (R551Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196174	NM_032752.3(ZNF496):c.1321G>A (p.Gly441Arg)	ZNF496 (G441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196173	NM_032752.3(ZNF496):c.1208A>G (p.Lys403Arg)	ZNF496 (K403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196172	NM_032752.3(ZNF496):c.1103G>T (p.Gly368Val)	ZNF496 (G368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2624015	NM_032752.3(ZNF496):c.826A>G (p.Asn276Asp)	ZNF496 (N276D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620677	NM_032752.3(ZNF496):c.676A>G (p.Met226Val)	ZNF496 (M226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599621	NM_032752.3(ZNF496):c.974C>T (p.Pro325Leu)	ZNF496 (P325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2555423	NM_032752.3(ZNF496):c.364C>T (p.Arg122Trp)	ZNF496 (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555422	NM_032752.3(ZNF496):c.1342G>A (p.Glu448Lys)	ZNF496 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550704	NM_032752.3(ZNF496):c.653G>T (p.Ser218Ile)	ZNF496 (S218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540895	NM_032752.3(ZNF496):c.143T>A (p.Phe48Tyr)	ZNF496 (F48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527768	NM_032752.3(ZNF496):c.1406G>A (p.Gly469Glu)	ZNF496 (G469E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527630	NM_032752.3(ZNF496):c.650C>G (p.Pro217Arg)	ZNF496 (P217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 2493248	NM_032752.3(ZNF496):c.796G>T (p.Ala266Ser)	ZNF496 (A266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487067	NM_032752.3(ZNF496):c.1238A>G (p.Lys413Arg)	ZNF496 (K413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474983	NM_032752.3(ZNF496):c.271C>A (p.Leu91Met)	ZNF496 (L91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474851	NM_032752.3(ZNF496):c.23G>A (p.Arg8Gln)	ZNF496 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471321	NM_032752.3(ZNF496):c.161C>T (p.Ala54Val)	ZNF496 (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466710	NM_032752.3(ZNF496):c.326G>A (p.Ser109Asn)	ZNF496 (S109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463213	NM_032752.3(ZNF496):c.860A>C (p.Gln287Pro)	ZNF496 (Q287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460002	NM_032752.3(ZNF496):c.838G>A (p.Val280Ile)	ZNF496 (V280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409806	NM_032752.3(ZNF496):c.1481T>C (p.Val494Ala)	ZNF496 (V494A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380980	NM_032752.3(ZNF496):c.1090G>T (p.Asp364Tyr)	ZNF496 (D364Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367387	NM_032752.3(ZNF496):c.836G>A (p.Arg279His)	ZNF496 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366181	NM_032752.3(ZNF496):c.347C>T (p.Ala116Val)	ZNF496 (A116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313517	NM_032752.3(ZNF496):c.1385C>A (p.Pro462His)	ZNF496 (P462H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311639	NM_032752.3(ZNF496):c.346G>A (p.Ala116Thr)	ZNF496 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300082	NM_032752.3(ZNF496):c.1492G>C (p.Glu498Gln)	ZNF496 (E498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286908	NM_032752.3(ZNF496):c.500A>G (p.Asp167Gly)	ZNF496 (D167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281872	NM_032752.3(ZNF496):c.1490G>A (p.Arg497Lys)	ZNF496 (R497K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272399	NM_032752.3(ZNF496):c.287G>A (p.Arg96Gln)	ZNF496 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269719	NM_032752.3(ZNF496):c.1622G>A (p.Arg541His)	ZNF496 (R541H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268050	NM_032752.3(ZNF496):c.466G>A (p.Val156Ile)	ZNF496 (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259411	NM_032752.3(ZNF496):c.104T>C (p.Leu35Pro)	ZNF496 (L35P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242459	NM_032752.3(ZNF496):c.1499C>T (p.Ala500Val)	ZNF496 (A500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221318	NM_032752.3(ZNF496):c.286C>T (p.Arg96Trp)	ZNF496 (R96W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 980425	GRCh37/hg19 1q44(chr1:246853199-249181899)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GLikely pathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 685533	GRCh37/hg19 1q44(chr1:247032527-248071583)x3	AHCTF1, GCSAML +19 more	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442983	GRCh37/hg19 1q44(chr1:244281222-247789907)x3	ADSS2, AHCTF1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395294	GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3	ADSS2, CATSPERE +70 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic

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