"Ambry Genetics"[submitter] AND "ITPKB"[gene] - ClinVar

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Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	GUncertain significance
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 3286968	NM_002221.4(ITPKB):c.2278C>T (p.Arg760Trp)	ITPKB (R760W)	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 3286973	NM_002221.4(ITPKB):c.2209G>A (p.Asp737Asn)	ITPKB (D737N)	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 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 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 2339201	NM_002221.4(ITPKB):c.1703C>T (p.Ala568Val)	ITPKB (A568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3286969	NM_002221.4(ITPKB):c.1454C>T (p.Ala485Val)	ITPKB (A485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3286971	NM_002221.4(ITPKB):c.1342C>T (p.Pro448Ser)	ITPKB (P448S)	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 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 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 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 3286970	NM_002221.4(ITPKB):c.667C>A (p.Pro223Thr)	ITPKB (P223T)	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 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 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 3286972	NM_002221.4(ITPKB):c.205C>G (p.Pro69Ala)	ITPKB, LOC129932672 (P69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596387	NM_002221.4(ITPKB):c.151G>A (p.Gly51Arg)	ITPKB, LOC129932672 (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	ITPKB, LOC129932672 (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

ClinVar

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Items: 59