ClinVar for Gene (Select 26149) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259084	NM_033160.7(ZNF658):c.1874C>T (p.Thr625Met)	ZNF658 (T625M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259083	NM_033160.7(ZNF658):c.1319A>T (p.Tyr440Phe)	ZNF658 (Y440F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259082	NM_033160.7(ZNF658):c.2837C>T (p.Pro946Leu)	ZNF658 (P946L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259081	NM_033160.7(ZNF658):c.865A>G (p.Lys289Glu)	ZNF658 (K289E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259080	NM_033160.7(ZNF658):c.2640A>T (p.Lys880Asn)	ZNF658 (K880N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259078	NM_033160.7(ZNF658):c.3097C>T (p.Arg1033Cys)	ZNF658 (R1033C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259077	NM_033160.7(ZNF658):c.2095T>C (p.Ser699Pro)	ZNF658 (S699P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259076	NM_033160.7(ZNF658):c.2482T>G (p.Cys828Gly)	ZNF658 (C828G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259075	NM_033160.7(ZNF658):c.1853G>A (p.Arg618Lys)	ZNF658 (R618K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197539	NM_033160.7(ZNF658):c.848C>A (p.Thr283Asn)	ZNF658 (T283N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197538	NM_033160.7(ZNF658):c.794C>T (p.Thr265Ile)	ZNF658 (T265I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197537	NM_033160.7(ZNF658):c.72C>A (p.His24Gln)	ZNF658 (H24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197536	NM_033160.7(ZNF658):c.697C>A (p.Pro233Thr)	ZNF658 (P233T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197535	NM_033160.7(ZNF658):c.574G>A (p.Gly192Ser)	ZNF658 (G192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197533	NM_033160.7(ZNF658):c.2896T>C (p.Tyr966His)	ZNF658 (Y966H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197532	NM_033160.7(ZNF658):c.2810C>A (p.Pro937His)	ZNF658 (P937H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197531	NM_033160.7(ZNF658):c.2780C>T (p.Ala927Val)	ZNF658 (A927V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197530	NM_033160.7(ZNF658):c.2605C>T (p.Leu869Phe)	ZNF658 (L869F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197529	NM_033160.7(ZNF658):c.2558C>A (p.Pro853His)	ZNF658 (P853H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197528	NM_033160.7(ZNF658):c.2515A>G (p.Thr839Ala)	ZNF658 (T839A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197526	NM_033160.7(ZNF658):c.2178T>A (p.Asn726Lys)	ZNF658 (N726K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197525	NM_033160.7(ZNF658):c.200G>T (p.Trp67Leu)	ZNF658 (W67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197524	NM_033160.7(ZNF658):c.1861C>G (p.His621Asp)	ZNF658 (H621D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197523	NM_033160.7(ZNF658):c.1291C>T (p.Pro431Ser)	ZNF658 (P431S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197522	NM_033160.7(ZNF658):c.1249T>A (p.Cys417Ser)	ZNF658 (C417S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197521	NM_033160.7(ZNF658):c.1211G>A (p.Arg404Lys)	ZNF658 (R404K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197520	NM_033160.7(ZNF658):c.1119A>T (p.Arg373Ser)	ZNF658 (R373S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659212	NM_033160.7(ZNF658):c.1686T>C (p.Ser562=)	ZNF658	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659211	NM_033160.7(ZNF658):c.2007C>T (p.Tyr669=)	ZNF658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617720	NM_033160.7(ZNF658):c.2440A>C (p.Ile814Leu)	ZNF658 (I814L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601062	NM_033160.7(ZNF658):c.955A>G (p.Ile319Val)	ZNF658 (I319V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599449	NM_033160.7(ZNF658):c.1945C>G (p.Gln649Glu)	ZNF658 (Q649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592902	NM_033160.7(ZNF658):c.2884G>C (p.Gly962Arg)	ZNF658 (G962R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567896	NM_033160.7(ZNF658):c.958A>G (p.Thr320Ala)	ZNF658 (T320A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551480	NM_033160.7(ZNF658):c.53C>A (p.Thr18Asn)	ZNF658 (T18N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548228	NM_033160.7(ZNF658):c.2968G>A (p.Gly990Arg)	ZNF658 (G990R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545316	NM_033160.7(ZNF658):c.208G>A (p.Glu70Lys)	ZNF658 (E70K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533882	NM_033160.7(ZNF658):c.1250G>A (p.Cys417Tyr)	ZNF658 (C417Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532302	NM_033160.7(ZNF658):c.2117G>T (p.Arg706Ile)	ZNF658 (R706I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511734	NM_033160.7(ZNF658):c.479C>T (p.Ser160Leu)	ZNF658 (S160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493995	NM_033160.7(ZNF658):c.37G>C (p.Val13Leu)	ZNF658 (V13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489416	NM_033160.7(ZNF658):c.1481G>A (p.Cys494Tyr)	ZNF658 (C494Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469594	NM_033160.7(ZNF658):c.2679G>T (p.Lys893Asn)	ZNF658 (K893N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468820	NM_033160.7(ZNF658):c.1009A>C (p.Ser337Arg)	ZNF658 (S337R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468732	NM_033160.7(ZNF658):c.2585C>T (p.Thr862Met)	ZNF658 (T862M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457071	NM_033160.7(ZNF658):c.1325G>A (p.Cys442Tyr)	ZNF658 (C442Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455488	NM_033160.7(ZNF658):c.2126C>T (p.Thr709Met)	ZNF658 (T709M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406018	NM_033160.7(ZNF658):c.344G>T (p.Gly115Val)	ZNF658 (G115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397805	NM_033160.7(ZNF658):c.1024G>C (p.Val342Leu)	ZNF658 (V342L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395432	NM_033160.7(ZNF658):c.1970C>T (p.Pro657Leu)	ZNF658 (P657L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390482	NM_033160.7(ZNF658):c.1388C>T (p.Thr463Ile)	ZNF658 (T463I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377328	NM_033160.7(ZNF658):c.956T>C (p.Ile319Thr)	ZNF658 (I319T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374673	NM_033160.7(ZNF658):c.2267G>A (p.Arg756His)	ZNF658 (R756H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364981	NM_033160.7(ZNF658):c.271C>T (p.Arg91Trp)	ZNF658 (R91W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350148	NM_033160.7(ZNF658):c.1280C>T (p.Pro427Leu)	ZNF658 (P427L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349337	NM_033160.7(ZNF658):c.2254T>A (p.Phe752Ile)	ZNF658 (F752I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348575	NM_033160.7(ZNF658):c.2345A>G (p.Lys782Arg)	ZNF658 (K782R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347965	NM_033160.7(ZNF658):c.1235A>G (p.Tyr412Cys)	ZNF658 (Y412C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343403	NM_033160.7(ZNF658):c.2464G>A (p.Gly822Arg)	ZNF658 (G822R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337931	NM_033160.7(ZNF658):c.2507C>T (p.Ser836Phe)	ZNF658 (S836F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334193	NM_033160.7(ZNF658):c.2934A>T (p.Lys978Asn)	ZNF658 (K978N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332595	NM_033160.7(ZNF658):c.900T>G (p.Asn300Lys)	ZNF658 (N300K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327266	NM_033160.7(ZNF658):c.158A>C (p.Lys53Thr)	ZNF658 (K53T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317240	NM_033160.7(ZNF658):c.29T>G (p.Phe10Cys)	ZNF658 (F10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307125	NM_033160.7(ZNF658):c.2282G>A (p.Arg761Gln)	ZNF658 (R761Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305838	NM_033160.7(ZNF658):c.2067T>A (p.Ser689Arg)	ZNF658 (S689R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301480	NM_033160.7(ZNF658):c.37G>A (p.Val13Met)	ZNF658 (V13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296947	NM_033160.7(ZNF658):c.2170G>A (p.Ala724Thr)	ZNF658 (A724T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285046	NM_033160.7(ZNF658):c.1625G>A (p.Gly542Asp)	ZNF658 (G542D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279857	NM_033160.7(ZNF658):c.1347C>A (p.Phe449Leu)	ZNF658 (F449L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273043	NM_033160.7(ZNF658):c.2404G>T (p.Val802Leu)	ZNF658 (V802L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267822	NM_033160.7(ZNF658):c.2716G>A (p.Gly906Arg)	ZNF658 (G906R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264655	NM_033160.7(ZNF658):c.2658C>A (p.Asp886Glu)	ZNF658 (D886E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257312	NM_033160.7(ZNF658):c.875T>C (p.Met292Thr)	ZNF658 (M292T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249810	NM_033160.7(ZNF658):c.2195A>G (p.His732Arg)	ZNF658 (H732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244088	NM_033160.7(ZNF658):c.440C>T (p.Pro147Leu)	ZNF658 (P147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238416	NM_033160.7(ZNF658):c.410G>A (p.Cys137Tyr)	ZNF658 (C137Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224622	NM_033160.7(ZNF658):c.632T>G (p.Leu211Trp)	ZNF658 (L211W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217324	NM_033160.7(ZNF658):c.772T>A (p.Phe258Ile)	ZNF658 (F258I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214157	NM_033160.7(ZNF658):c.2390C>T (p.Pro797Leu)	ZNF658 (P797L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211706	NM_033160.7(ZNF658):c.832T>A (p.Ser278Thr)	ZNF658 (S278T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210152	GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1	ALDH1B1, ANKRD18A +19 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic

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