19426[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC112268136, LOC112268140 +3283 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3278 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2370302	NM_024658.4(IPO4):c.3229G>A (p.Val1077Ile)	IPO4, REC8 (V1077I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606081	NM_024658.4(IPO4):c.3208A>G (p.Lys1070Glu)	IPO4, REC8 (K1070E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286312	NM_024658.4(IPO4):c.3161A>T (p.Gln1054Leu)	IPO4, REC8 (Q1054L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110330	NM_024658.4(IPO4):c.3149T>C (p.Phe1050Ser)	IPO4, REC8 (F1050S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529606	NM_024658.4(IPO4):c.3131T>C (p.Leu1044Pro)	IPO4, REC8 (L1044P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221968	NM_024658.4(IPO4):c.3002T>C (p.Ile1001Thr)	IPO4 (I1001T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529588	NM_024658.4(IPO4):c.2951C>T (p.Ala984Val)	IPO4 (A984V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286314	NM_024658.4(IPO4):c.2873G>A (p.Arg958His)	IPO4 (R958H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529593	NM_024658.4(IPO4):c.2872C>T (p.Arg958Cys)	IPO4 (R958C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110329	NM_024658.4(IPO4):c.2858G>A (p.Arg953Gln)	IPO4 (R953Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286317	NM_024658.4(IPO4):c.2854G>A (p.Glu952Lys)	IPO4 (E952K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529592	NM_024658.4(IPO4):c.2851C>T (p.Arg951Trp)	IPO4 (R951W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358824	NM_024658.4(IPO4):c.2782G>A (p.Glu928Lys)	IPO4 (E928K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527677	NM_024658.4(IPO4):c.2736C>G (p.Asp912Glu)	IPO4 (D912E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286318	NM_024658.4(IPO4):c.2699T>C (p.Leu900Pro)	IPO4 (L900P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292209	NM_024658.4(IPO4):c.2641A>G (p.Thr881Ala)	IPO4 (T881A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204994	NM_024658.4(IPO4):c.2591G>C (p.Cys864Ser)	IPO4 (C864S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547749	NM_024658.4(IPO4):c.2590T>C (p.Cys864Arg)	IPO4 (C864R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387991	NM_024658.4(IPO4):c.2569G>A (p.Gly857Ser)	IPO4 (G857S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462515	NM_024658.4(IPO4):c.2547C>G (p.Asp849Glu)	IPO4 (D849E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529600	NM_024658.4(IPO4):c.2509G>C (p.Glu837Gln)	IPO4 (E837Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529596	NM_024658.4(IPO4):c.2485G>A (p.Ala829Thr)	IPO4 (A829T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529599	NM_024658.4(IPO4):c.2425G>T (p.Ala809Ser)	IPO4 (A809S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529598	NM_024658.4(IPO4):c.2423C>T (p.Thr808Ile)	IPO4 (T808I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318662	NM_024658.4(IPO4):c.2413C>G (p.Gln805Glu)	IPO4 (Q805E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229860	NM_024658.4(IPO4):c.2411T>C (p.Leu804Pro)	IPO4 (L804P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589723	NM_024658.4(IPO4):c.2395G>A (p.Val799Met)	IPO4 (V799M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3529587	NM_024658.4(IPO4):c.2338C>T (p.Arg780Cys)	IPO4 (R780C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595251	NM_024658.4(IPO4):c.2293C>T (p.Arg765Cys)	IPO4 (R765C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549227	NM_024658.4(IPO4):c.2288G>A (p.Arg763Gln)	IPO4 (R763Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529597	NM_024658.4(IPO4):c.2254G>T (p.Val752Leu)	IPO4 (V752L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355739	NM_024658.4(IPO4):c.2254G>A (p.Val752Met)	IPO4 (V752M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346497	NM_024658.4(IPO4):c.2249G>A (p.Arg750Gln)	IPO4 (R750Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529595	NM_024658.4(IPO4):c.2195G>C (p.Cys732Ser)	IPO4 (C732S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463653	NM_024658.4(IPO4):c.2191G>A (p.Ala731Thr)	IPO4 (A731T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388246	NM_024658.4(IPO4):c.2152C>T (p.His718Tyr)	IPO4 (H718Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110328	NM_024658.4(IPO4):c.2131C>G (p.Leu711Val)	IPO4 (L711V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522353	NM_024658.4(IPO4):c.2083A>G (p.Met695Val)	IPO4 (M695V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243455	NM_024658.4(IPO4):c.2072T>G (p.Phe691Cys)	IPO4 (F691C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644132	NM_024658.4(IPO4):c.2046G>A (p.Glu682=)	IPO4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3529594	NM_024658.4(IPO4):c.2041G>A (p.Gly681Arg)	IPO4 (G681R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363819	NM_024658.4(IPO4):c.2041G>C (p.Gly681Arg)	IPO4 (G681R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110326	NM_024658.4(IPO4):c.2038G>A (p.Val680Met)	IPO4 (V680M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461575	NM_024658.4(IPO4):c.2007C>G (p.Phe669Leu)	IPO4 (F669L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110325	NM_024658.4(IPO4):c.1996G>C (p.Glu666Gln)	IPO4 (E666Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529586	NM_024658.4(IPO4):c.1988A>G (p.Tyr663Cys)	IPO4 (Y663C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607166	NM_024658.4(IPO4):c.1966G>A (p.Asp656Asn)	IPO4 (D656N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716382	NM_024658.4(IPO4):c.1908C>T (p.Asp636=)	IPO4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2608665	NM_024658.4(IPO4):c.1882G>A (p.Gly628Arg)	IPO4 (G628R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110324	NM_024658.4(IPO4):c.1858G>A (p.Glu620Lys)	IPO4 (E620K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400183	NM_024658.4(IPO4):c.1829C>T (p.Thr610Met)	IPO4 (T610M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515780	NM_024658.4(IPO4):c.1805C>T (p.Ala602Val)	IPO4 (A602V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286316	NM_024658.4(IPO4):c.1751G>A (p.Arg584His)	IPO4 (R584H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211450	NM_024658.4(IPO4):c.1723G>A (p.Asp575Asn)	IPO4 (D575N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2382915	NM_024658.4(IPO4):c.1682C>T (p.Pro561Leu)	IPO4 (P561L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286311	NM_024658.4(IPO4):c.1580G>A (p.Arg527Gln)	IPO4 (R527Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110323	NM_024658.4(IPO4):c.1549C>T (p.Pro517Ser)	IPO4 (P517S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644133	NM_024658.4(IPO4):c.1545G>A (p.Leu515=)	IPO4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2205083	NM_024658.4(IPO4):c.1541C>T (p.Ser514Leu)	IPO4 (S514L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559042	NM_024658.4(IPO4):c.1507G>A (p.Ala503Thr)	IPO4 (A503T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552356	NM_024658.4(IPO4):c.1489A>G (p.Lys497Glu)	IPO4 (K497E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776825	NM_024658.4(IPO4):c.1480C>A (p.Pro494Thr)	IPO4 (P494T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3529602	NM_024658.4(IPO4):c.1443G>A (p.Met481Ile)	IPO4 (M481I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529589	NM_024658.4(IPO4):c.1305G>C (p.Glu435Asp)	IPO4 (E435D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286313	NM_024658.4(IPO4):c.1283A>G (p.His428Arg)	IPO4 (H428R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277041	NM_024658.4(IPO4):c.1255G>A (p.Gly419Ser)	IPO4 (G419S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110321	NM_024658.4(IPO4):c.1250C>T (p.Ala417Val)	IPO4 (A417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401000	NM_024658.4(IPO4):c.1231C>T (p.Arg411Cys)	IPO4 (R411C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591498	NM_024658.4(IPO4):c.1220C>T (p.Ser407Leu)	IPO4 (S407L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110320	NM_024658.4(IPO4):c.1205G>T (p.Gly402Val)	IPO4 (G402V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455669	NM_024658.4(IPO4):c.1191G>T (p.Gln397His)	IPO4 (Q397H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110319	NM_024658.4(IPO4):c.1183C>A (p.Leu395Met)	IPO4 (L395M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354395	NM_024658.4(IPO4):c.1088G>A (p.Ser363Asn)	IPO4 (S363N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261767	NM_024658.4(IPO4):c.1082T>C (p.Leu361Ser)	IPO4 (L361S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110318	NM_024658.4(IPO4):c.1039G>C (p.Glu347Gln)	IPO4 (E347Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548030	NM_024658.4(IPO4):c.1033C>T (p.Pro345Ser)	IPO4 (P345S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529590	NM_024658.4(IPO4):c.1022C>T (p.Ala341Val)	IPO4 (A341V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341180	NM_024658.4(IPO4):c.983C>T (p.Thr328Ile)	IPO4 (T328I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286315	NM_024658.4(IPO4):c.947A>T (p.Glu316Val)	IPO4 (E316V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529605	NM_024658.4(IPO4):c.767A>G (p.Asn256Ser)	IPO4 (N256S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110333	NM_024658.4(IPO4):c.722C>G (p.Pro241Arg)	IPO4 (P241R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387035	NM_024658.4(IPO4):c.715A>C (p.Ile239Leu)	IPO4 (I239L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529604	NM_024658.4(IPO4):c.680C>A (p.Ala227Asp)	IPO4 (A227D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598719	NM_024658.4(IPO4):c.655G>A (p.Ala219Thr)	IPO4 (A219T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306587	NM_024658.4(IPO4):c.566C>T (p.Pro189Leu)	IPO4 (P189L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110332	NM_024658.4(IPO4):c.545G>A (p.Arg182His)	IPO4 (R182H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529601	NM_024658.4(IPO4):c.515G>T (p.Gly172Val)	IPO4 (G172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372795	NM_024658.4(IPO4):c.510G>C (p.Glu170Asp)	IPO4 (E170D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110331	NM_024658.4(IPO4):c.467A>G (p.His156Arg)	IPO4 (H156R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315058	NM_024658.4(IPO4):c.388C>T (p.Pro130Ser)	IPO4 (P130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469489	NM_024658.4(IPO4):c.342G>T (p.Glu114Asp)	IPO4 (E114D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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