IPO8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 2219534	NM_006390.4(IPO8):c.3089T>A (p.Phe1030Tyr)	IPO8 (F825Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712730	NM_006390.4(IPO8):c.3047G>T (p.Gly1016Val)	IPO8 (G1016V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2480243	NM_006390.4(IPO8):c.3022A>G (p.Lys1008Glu)	IPO8 (K803E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381431	NM_006390.4(IPO8):c.3020C>G (p.Ala1007Gly)	IPO8 (A802G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498550	NM_006390.4(IPO8):c.3004C>A (p.Arg1002=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406850	NM_006390.4(IPO8):c.3004C>T (p.Arg1002Trp)	IPO8 (R1002W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498551	NM_006390.4(IPO8):c.2952C>T (p.Ser984=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333481	NM_006390.4(IPO8):c.2927A>T (p.Tyr976Phe)	IPO8 (Y976F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515964	NM_006390.4(IPO8):c.2921C>A (p.Ala974Asp)	IPO8 (A769D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590205	NM_006390.4(IPO8):c.2902G>A (p.Val968Met)	IPO8 (V763M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047915	NM_006390.4(IPO8):c.2900-1G>A	IPO8	Single nucleotide variant (splice acceptor variant)	IPO8-related aortopathy +1 more	GPathogenic/Likely pathogenic
Select item 2591353	NM_006390.4(IPO8):c.2857A>G (p.Asn953Asp)	IPO8 (N953D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054391	NM_006390.4(IPO8):c.2823G>A (p.Ala941=)	IPO8	Single nucleotide variant (synonymous variant)	IPO8-related disorder	GLikely benign
Select item 3110351	NM_006390.4(IPO8):c.2822C>T (p.Ala941Val)	IPO8 (A736V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545859	NM_006390.4(IPO8):c.2774A>C (p.Glu925Ala)	IPO8 (E925A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642811	NM_006390.4(IPO8):c.2727T>C (p.Asn909=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1192309	NM_006390.4(IPO8):c.2695+4_2695+8del	IPO8	Deletion (intron variant)	VISS syndrome	GPathogenic
Select item 1064723	NM_006390.4(IPO8):c.2695+3_2695+7del	IPO8	Deletion (splice donor variant)	IPO8 related Connective tissue disorder	GPathogenic
Select item 3110350	NM_006390.4(IPO8):c.2651G>A (p.Arg884Gln)	IPO8 (R679Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410740	NM_006390.4(IPO8):c.2650C>G (p.Arg884Gly)	IPO8 (R679G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701194	NM_006390.4(IPO8):c.2636G>A (p.Arg879Lys)	IPO8 (R674K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3110349	NM_006390.4(IPO8):c.2632A>G (p.Thr878Ala)	IPO8 (T673A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561661	NM_006390.4(IPO8):c.2630C>A (p.Ala877Asp)	IPO8 (A877D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047912	NM_006390.4(IPO8):c.2597_2601del (p.Leu866fs)	IPO8 (L661fs +1 more)	Deletion (frameshift variant)	IPO8-related aortopathy	GPathogenic
Select item 716430	NM_006390.4(IPO8):c.2589C>T (p.Pro863=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064726	NM_006390.4(IPO8):c.2500C>T (p.Arg834Trp)	IPO8 (R629W +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GLikely pathogenic
Select item 2287847	NM_006390.4(IPO8):c.2447A>T (p.Gln816Leu)	IPO8 (Q611L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064721	NM_006390.4(IPO8):c.2407C>T (p.Arg803Ter)	IPO8 (R598* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1047914	NM_006390.4(IPO8):c.2347_2369del (p.Leu783fs)	IPO8 (L578fs +1 more)	Deletion (frameshift variant)	IPO8-related aortopathy	GPathogenic
Select item 1064727	NM_006390.4(IPO8):c.2279del (p.Leu760fs)	IPO8 (L555fs +1 more)	Deletion (frameshift variant)	VISS syndrome	GPathogenic
Select item 1701195	NM_006390.4(IPO8):c.2268+6A>G	IPO8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052977	NM_006390.4(IPO8):c.2268+4A>G	IPO8	Single nucleotide variant (intron variant)	IPO8-related disorder	GLikely benign
Select item 1064725	NM_006390.4(IPO8):c.2245T>C (p.Cys749Arg)	IPO8 (C544R +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GLikely pathogenic
Select item 2291332	NM_006390.4(IPO8):c.2222T>G (p.Leu741Arg)	IPO8 (L741R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234727	NM_006390.4(IPO8):c.2214A>C (p.Ala738=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064729	NM_006390.4(IPO8):c.2129C>G (p.Ser710Ter)	IPO8 (S505* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome	GLikely pathogenic
Select item 2664318	NM_006390.4(IPO8):c.2126T>C (p.Leu709Pro)	IPO8 (L504P +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GUncertain significance
Select item 2313047	NM_006390.4(IPO8):c.2104A>G (p.Thr702Ala)	IPO8 (T497A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633082	NM_006390.4(IPO8):c.2064A>C (p.Glu688Asp)	IPO8 (E483D +1 more)	Single nucleotide variant (missense variant)	IPO8-related disorder	GUncertain significance
Select item 2642812	NM_006390.4(IPO8):c.2034A>T (p.Leu678=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633091	NM_006390.4(IPO8):c.1970C>A (p.Ser657Tyr)	IPO8 (S452Y +1 more)	Single nucleotide variant (missense variant)	IPO8-related disorder	GUncertain significance
Select item 2276255	NM_006390.4(IPO8):c.1955A>G (p.Tyr652Cys)	IPO8 (Y447C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526426	NM_006390.4(IPO8):c.1933C>T (p.Gln645Ter)	IPO8 (Q440* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome	GLikely pathogenic
Select item 2303451	NM_006390.4(IPO8):c.1814C>T (p.Thr605Ile)	IPO8 (T605I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063694	NM_006390.4(IPO8):c.1756-5C>G	IPO8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2457717	NM_006390.4(IPO8):c.1604A>G (p.Tyr535Cys)	IPO8 (Y535C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110347	NM_006390.4(IPO8):c.1599G>C (p.Lys533Asn)	IPO8 (K328N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578678	NM_006390.4(IPO8):c.1557C>T (p.Ala519=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064724	NM_006390.4(IPO8):c.1538del (p.Pro513fs)	IPO8 (P308fs +1 more)	Deletion (frameshift variant)	IPO8 related Connective tissue disorder	GPathogenic
Select item 2461164	NM_006390.4(IPO8):c.1505C>T (p.Ala502Val)	IPO8 (A297V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715646	NM_006390.4(IPO8):c.1495G>A (p.Val499Ile)	IPO8 (V294I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2283758	NM_006390.4(IPO8):c.1487G>A (p.Arg496Lys)	IPO8 (R291K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296995	NM_006390.4(IPO8):c.1477C>T (p.Leu493Phe)	IPO8 (L493F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047911	NM_006390.4(IPO8):c.1428+5G>A	IPO8	Single nucleotide variant (intron variant)	IPO8-related aortopathy	GPathogenic
Select item 1047908	NM_006390.4(IPO8):c.1420C>T (p.Arg474Ter)	IPO8 (R269* +1 more)	Single nucleotide variant (nonsense)	IPO8-related aortopathy +1 more	GPathogenic
Select item 2461994	NM_006390.4(IPO8):c.1304A>G (p.His435Arg)	IPO8 (H230R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227928	NM_006390.4(IPO8):c.1279C>T (p.Pro427Ser)	IPO8 (P222S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221639	NM_006390.4(IPO8):c.1268C>T (p.Pro423Leu)	IPO8 (P423L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253308	NM_006390.4(IPO8):c.1234A>G (p.Met412Val)	IPO8 (M207V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775097	NM_006390.4(IPO8):c.1144+9G>A	IPO8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579882	NM_006390.4(IPO8):c.1069dup (p.Ser357fs)	IPO8 (S152fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2672494	NM_006390.4(IPO8):c.1053T>A (p.Ser351=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778077	NM_006390.4(IPO8):c.1045-7A>T	IPO8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770229	NM_006390.4(IPO8):c.1045-8C>T	IPO8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2296342	NM_006390.4(IPO8):c.1004T>C (p.Val335Ala)	IPO8 (V335A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047910	NM_006390.4(IPO8):c.1000dup (p.Val334fs)	IPO8 (V129fs +1 more)	Duplication (frameshift variant)	IPO8-related aortopathy	GPathogenic
Select item 1526427	NM_006390.4(IPO8):c.950A>G (p.Tyr317Cys)	IPO8 (Y112C +1 more)	Single nucleotide variant (missense variant)	VISS syndrome	GUncertain significance
Select item 2232005	NM_006390.4(IPO8):c.896T>A (p.Val299Glu)	IPO8 (V94E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499284	NM_006390.4(IPO8):c.874T>A (p.Phe292Ile)	IPO8 (F292I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725614	NM_006390.4(IPO8):c.824+7A>G	IPO8	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1047909	NM_006390.4(IPO8):c.770_777del (p.Val257fs)	IPO8 (V257fs +1 more)	Deletion (frameshift variant)	IPO8-related aortopathy	GPathogenic
Select item 1047913	NM_006390.4(IPO8):c.776G>A (p.Trp259Ter)	IPO8 (W259* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome +1 more	GPathogenic
Select item 1064728	NM_006390.4(IPO8):c.728del (p.Pro243fs)	IPO8 (P243fs +1 more)	Deletion (frameshift variant)	IPO8 related Connective tissue disorder	GPathogenic
Select item 2523047	NM_006390.4(IPO8):c.721G>A (p.Val241Ile)	IPO8 (V36I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469581	NM_006390.4(IPO8):c.703A>T (p.Thr235Ser)	IPO8 (T235S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526425	NM_006390.4(IPO8):c.700C>T (p.Arg234Ter)	IPO8 (R234* +1 more)	Single nucleotide variant (nonsense)	VISS syndrome	GLikely pathogenic
Select item 2572415	NM_006390.4(IPO8):c.639+1G>A	IPO8	Single nucleotide variant (splice donor variant)	VISS syndrome	GPathogenic
Select item 2642813	NM_006390.4(IPO8):c.570T>C (p.Leu190=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592899	NM_006390.4(IPO8):c.551A>C (p.Gln184Pro)	IPO8 (Q184P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582903	NM_006390.4(IPO8):c.433A>G (p.Ser145Gly)	IPO8 (S145G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205776	NM_006390.4(IPO8):c.339G>A (p.Met113Ile)	IPO8 (M113I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025391	NM_006390.4(IPO8):c.324A>G (p.Arg108=)	IPO8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2273362	NM_006390.4(IPO8):c.296G>A (p.Gly99Glu)	IPO8 (G99E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064720	NM_006390.4(IPO8):c.262G>A (p.Asp88Asn)	IPO8 (D88N)	Single nucleotide variant (missense variant)	VISS syndrome	GLikely pathogenic
Select item 3110348	NM_006390.4(IPO8):c.173T>C (p.Ile58Thr)	IPO8 (I58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070383	NM_006390.4(IPO8):c.85-1G>C	IPO8	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1064722	NM_006390.4(IPO8):c.82C>T (p.Gln28Ter)	IPO8 (Q28*)	Single nucleotide variant (nonsense)	VISS syndrome	GPathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic

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