ITPKB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 3038080	NM_002221.4(ITPKB):c.2833C>G (p.Leu945Val)	ITPKB (L945V)	Single nucleotide variant (missense variant)	ITPKB-related disorder	GLikely benign
Select item 2286212	NM_002221.4(ITPKB):c.2740G>A (p.Val914Ile)	ITPKB (V914I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327026	NM_002221.4(ITPKB):c.2716G>C (p.Glu906Gln)	ITPKB (E906Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639970	NM_002221.4(ITPKB):c.2688C>T (p.Ile896=)	ITPKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783320	NM_002221.4(ITPKB):c.2640C>G (p.Ser880=)	ITPKB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2688311	NM_002221.4(ITPKB):c.2625+39C>T	ITPKB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3111706	NM_002221.4(ITPKB):c.2587A>G (p.Thr863Ala)	ITPKB (T863A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398004	NM_002221.4(ITPKB):c.2323G>A (p.Glu775Lys)	ITPKB (E775K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455759	NM_002221.4(ITPKB):c.2269A>G (p.Thr757Ala)	ITPKB (T757A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352937	NM_002221.4(ITPKB):c.2126G>A (p.Arg709Lys)	ITPKB (R709K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252533	NM_002221.4(ITPKB):c.2029G>A (p.Ala677Thr)	ITPKB (A677T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232127	NM_002221.4(ITPKB):c.1907C>T (p.Thr636Ile)	ITPKB (T636I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561303	NM_002221.4(ITPKB):c.1906A>G (p.Thr636Ala)	ITPKB (T636A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688151	NM_002221.4(ITPKB):c.1896C>T (p.Ala632=)	ITPKB	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3111705	NM_002221.4(ITPKB):c.1832C>T (p.Ser611Phe)	ITPKB (S611F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229449	NM_002221.4(ITPKB):c.1817C>T (p.Thr606Met)	ITPKB (T606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111703	NM_002221.4(ITPKB):c.1799C>T (p.Ser600Phe)	ITPKB (S600F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777333	NM_002221.4(ITPKB):c.1776C>T (p.Asn592=)	ITPKB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377415	NM_002221.4(ITPKB):c.1775A>G (p.Asn592Ser)	ITPKB (N592S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405815	NM_002221.4(ITPKB):c.1768C>T (p.Arg590Trp)	ITPKB (R590W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688336	NM_002221.4(ITPKB):c.1764C>T (p.Ser588=)	ITPKB	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2339201	NM_002221.4(ITPKB):c.1703C>T (p.Ala568Val)	ITPKB (A568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705897	NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)	ITPKB (P552Q)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 2599684	NM_002221.4(ITPKB):c.1646C>G (p.Pro549Arg)	ITPKB (P549R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407875	NM_002221.4(ITPKB):c.1634C>T (p.Pro545Leu)	ITPKB (P545L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390372	NM_002221.4(ITPKB):c.1615A>T (p.Ser539Cys)	ITPKB (S539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240771	NM_002221.4(ITPKB):c.1564C>T (p.Arg522Cys)	ITPKB (R522C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111700	NM_002221.4(ITPKB):c.1439C>T (p.Pro480Leu)	ITPKB (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403493	NM_002221.4(ITPKB):c.1414T>G (p.Ser472Ala)	ITPKB (S472A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111699	NM_002221.4(ITPKB):c.1397T>C (p.Val466Ala)	ITPKB (V466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279039	NM_002221.4(ITPKB):c.1373C>T (p.Ser458Leu)	ITPKB (S458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283100	NM_002221.4(ITPKB):c.1280G>C (p.Arg427Pro)	ITPKB (R427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557538	NM_002221.4(ITPKB):c.1273G>A (p.Glu425Lys)	ITPKB (E425K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111698	NM_002221.4(ITPKB):c.1261G>A (p.Val421Ile)	ITPKB (V421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637080	NM_002221.4(ITPKB):c.1244C>A (p.Pro415His)	ITPKB (P415H)	Single nucleotide variant (missense variant)	ITPKB-related disorder +1 more	GUncertain significance
Select item 1705899	NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)	ITPKB (S408A)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 2398957	NM_002221.4(ITPKB):c.1171A>G (p.Lys391Glu)	ITPKB (K391E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557537	NM_002221.4(ITPKB):c.1133C>T (p.Pro378Leu)	ITPKB (P378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345685	NM_002221.4(ITPKB):c.1085G>A (p.Gly362Glu)	ITPKB (G362E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282702	NM_002221.4(ITPKB):c.1027G>A (p.Val343Met)	ITPKB (V343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258482	NM_002221.4(ITPKB):c.992G>T (p.Arg331Leu)	ITPKB (R331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233595	NM_002221.4(ITPKB):c.979T>C (p.Ser327Pro)	ITPKB (S327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705889	NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)	ITPKB (A322T)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 712256	NM_002221.4(ITPKB):c.959A>C (p.Asp320Ala)	ITPKB (D320A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2284937	NM_002221.4(ITPKB):c.913G>A (p.Glu305Lys)	ITPKB (E305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404214	NM_002221.4(ITPKB):c.896G>A (p.Ser299Asn)	ITPKB (S299N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2639971	NM_002221.4(ITPKB):c.880G>T (p.Gly294Trp)	ITPKB (G294W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2385043	NM_002221.4(ITPKB):c.796C>T (p.Arg266Cys)	ITPKB (R266C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293648	NM_002221.4(ITPKB):c.758C>T (p.Ala253Val)	ITPKB (A253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387561	NM_002221.4(ITPKB):c.749G>A (p.Gly250Asp)	ITPKB (G250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537825	NM_002221.4(ITPKB):c.709C>T (p.Leu237Phe)	ITPKB (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111710	NM_002221.4(ITPKB):c.633G>C (p.Glu211Asp)	ITPKB (E211D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227604	NM_002221.4(ITPKB):c.615G>C (p.Trp205Cys)	ITPKB (W205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777334	NM_002221.4(ITPKB):c.591C>A (p.Ser197Arg)	ITPKB (S197R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2352393	NM_002221.4(ITPKB):c.566G>A (p.Arg189Lys)	ITPKB (R189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111708	NM_002221.4(ITPKB):c.530C>T (p.Pro177Leu)	ITPKB (P177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054138	NM_002221.4(ITPKB):c.526T>C (p.Ser176Pro)	ITPKB (S176P)	Single nucleotide variant (missense variant)	ITPKB-related disorder	GLikely benign
Select item 1705898	NM_002221.4(ITPKB):c.518G>A (p.Arg173His)	ITPKB (R173H)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 2234683	NM_002221.4(ITPKB):c.455C>G (p.Ala152Gly)	ITPKB (A152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274841	NM_002221.4(ITPKB):c.428T>G (p.Val143Gly)	ITPKB (V143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487959	NM_002221.4(ITPKB):c.385A>G (p.Arg129Gly)	ITPKB (R129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616869	NM_002221.4(ITPKB):c.370C>T (p.Pro124Ser)	ITPKB (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111707	NM_002221.4(ITPKB):c.336G>T (p.Gln112His)	ITPKB (Q112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535989	NM_002221.4(ITPKB):c.310G>A (p.Gly104Ser)	ITPKB (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705896	NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])	ITPKB, LOC129932672	Microsatellite (inframe_deletion)	Myeloproliferative neoplasm, unclassifiable	GLikely pathogenic
Select item 1705892	NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser)	ITPKB, LOC129932672 (G74S)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GBenign/Likely benign
Select item 2596387	NM_002221.4(ITPKB):c.151G>A (p.Gly51Arg)	ITPKB, LOC129932672 (G51R)	Single nucleotide variant (missense variant)	ITPKB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3111702	NM_002221.4(ITPKB):c.144C>G (p.Phe48Leu)	ITPKB, LOC129932672 (F48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513432	NM_002221.4(ITPKB):c.130C>T (p.Pro44Ser)	LOC129932672, ITPKB (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111697	NM_002221.4(ITPKB):c.100C>G (p.Pro34Ala)	ITPKB, LOC129932672 (P34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688337	NM_002221.4(ITPKB):c.-8C>T	ITPKB, LOC129932672	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	MIXL1, TMEM63A +16 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814171	GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3	ITPKB, ACBD3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685224	GRCh37/hg19 1q42.12-42.13(chr1:226853676-227246753)x1	CDC42BPA, COQ8A +2 more	Copy number loss	not provided	GUncertain significance

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