ClinVar for Gene (Select 79711) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110334	NM_024658.4(IPO4):c.82C>T (p.Leu28Phe)	IPO4 (L28F)	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 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 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 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 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 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 3110327	NM_024658.4(IPO4):c.209G>A (p.Arg70Gln)	IPO4, LOC130055399 (R70Q)	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 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 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 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 3110322	NM_024658.4(IPO4):c.140C>T (p.Ser47Leu)	IPO4 (S47L)	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 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 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 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 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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 2644132	NM_024658.4(IPO4):c.2046G>A (p.Glu682=)	IPO4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2606783	NM_024658.4(IPO4):c.227A>C (p.Gln76Pro)	IPO4, LOC130055399 (Q76P)	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 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 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 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 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 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 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 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 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 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 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 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 2473857	NM_024658.4(IPO4):c.326G>A (p.Arg109Gln)	IPO4 (R109Q)	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
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 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 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 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 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2411572	NM_024658.4(IPO4):c.31C>T (p.Arg11Trp)	IPO4 (R11W)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 2324261	NM_024658.4(IPO4):c.133C>A (p.Leu45Ile)	IPO4 (L45I)	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 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 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 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 2290990	NM_024658.4(IPO4):c.244T>A (p.Ser82Thr)	IPO4 (S82T)	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 2270578	NM_024658.4(IPO4):c.221C>T (p.Ala74Val)	IPO4, LOC130055399 (A74V)	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 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 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 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 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 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 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 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 787111	NM_024658.4(IPO4):c.58C>T (p.Arg20Cys)	IPO4 (R20C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 716382	NM_024658.4(IPO4):c.1908C>T (p.Asp636=)	IPO4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 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	LOC125048431, LOC125048432 +3280 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 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
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 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 97