IPO13[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 2291291	NM_014652.4(IPO13):c.38C>G (p.Ala13Gly)	IPO13 (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468568	NM_014652.4(IPO13):c.86C>T (p.Ala29Val)	IPO13 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402339	NM_014652.4(IPO13):c.170A>G (p.Gln57Arg)	IPO13 (Q57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395468	NM_014652.4(IPO13):c.332G>A (p.Arg111His)	IPO13 (R111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110315	NM_014652.4(IPO13):c.336T>G (p.Phe112Leu)	IPO13 (F112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286306	NM_014652.4(IPO13):c.343G>A (p.Gly115Ser)	IPO13 (G115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110316	NM_014652.4(IPO13):c.467C>G (p.Pro156Arg)	IPO13 (P156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607616	NM_014652.4(IPO13):c.542G>A (p.Arg181His)	IPO13 (R181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348316	NM_014652.4(IPO13):c.584C>T (p.Ala195Val)	IPO13 (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361416	NM_014652.4(IPO13):c.608C>T (p.Pro203Leu)	IPO13 (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638762	NM_014652.4(IPO13):c.627A>C (p.Leu209=)	IPO13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110317	NM_014652.4(IPO13):c.727A>G (p.Ile243Val)	IPO13 (I243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049846	NM_014652.4(IPO13):c.731A>T (p.Gln244Leu)	IPO13 (Q244L)	Single nucleotide variant (missense variant)	IPO13-related disorder	GLikely benign
Select item 3055120	NM_014652.4(IPO13):c.826G>A (p.Val276Met)	IPO13 (V276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519277	NM_014652.4(IPO13):c.881G>A (p.Arg294Gln)	IPO13 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277774	NM_014652.4(IPO13):c.911C>T (p.Thr304Ile)	IPO13 (T304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539974	NM_014652.4(IPO13):c.916C>G (p.His306Asp)	IPO13 (H306D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232457	NM_014652.4(IPO13):c.1378C>G (p.Pro460Ala)	IPO13 (P460A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110309	NM_014652.4(IPO13):c.1654A>G (p.Lys552Glu)	IPO13 (K552E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110310	NM_014652.4(IPO13):c.1688C>T (p.Pro563Leu)	IPO13 (P563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286307	NM_014652.4(IPO13):c.1703A>T (p.Asn568Ile)	IPO13 (N568I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775544	NM_014652.4(IPO13):c.1950A>G (p.Thr650=)	IPO13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2204286	NM_014652.4(IPO13):c.1973A>G (p.Asp658Gly)	IPO13 (D658G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209205	NM_014652.4(IPO13):c.2032G>T (p.Val678Leu)	IPO13 (V678L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110311	NM_014652.4(IPO13):c.2111C>T (p.Ala704Val)	IPO13 (A704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386465	NM_014652.4(IPO13):c.2212A>G (p.Ile738Val)	IPO13, LOC126805725 (I738V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286305	NM_014652.4(IPO13):c.2243G>A (p.Arg748Gln)	IPO13, LOC126805725 (R748Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110312	NM_014652.4(IPO13):c.2269G>A (p.Glu757Lys)	IPO13, LOC126805725 (E757K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611106	NM_014652.4(IPO13):c.2311G>A (p.Val771Ile)	IPO13, LOC126805725 (V771I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286308	NM_014652.4(IPO13):c.2435G>A (p.Arg812Gln)	IPO13 (R812Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286309	NM_014652.4(IPO13):c.2501T>C (p.Val834Ala)	IPO13 (V834A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221171	NM_014652.4(IPO13):c.2539C>T (p.Arg847Trp)	IPO13 (R847W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552979	NM_014652.4(IPO13):c.2540G>A (p.Arg847Gln)	IPO13 (R847Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342174	NM_014652.4(IPO13):c.2587C>T (p.Arg863Cys)	IPO13 (R863C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621459	NM_014652.4(IPO13):c.2621G>C (p.Gly874Ala)	IPO13 (G874A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110313	NM_014652.4(IPO13):c.2635C>T (p.Arg879Cys)	IPO13 (R879C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775545	NM_014652.4(IPO13):c.2682G>A (p.Lys894=)	IPO13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110314	NM_014652.4(IPO13):c.2774C>A (p.Thr925Asn)	IPO13 (T925N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545302	NM_014652.4(IPO13):c.2797G>A (p.Glu933Lys)	IPO13 (E933K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611144	NM_014652.4(IPO13):c.2861T>C (p.Leu954Pro)	IPO13 (L954P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278097	NM_014652.4(IPO13):c.2881G>A (p.Ala961Thr)	IPO13 (A961T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247692	NC_000001.10:g.(?_44201934)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2425558	NC_000001.10:g.(?_44360035)_(44482805_?)dup	ARTN, ATP6V0B +6 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1808593	GRCh37/hg19 1p34.1(chr1:44115963-44434808)x3	ARTN, IPO13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1515804	NC_000001.10:g.(?_44360035)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
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 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 59