Related gene-specific medical variations for Gene (Select 3708) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366992	NM_001378452.1(ITPR1):c.7852A>C (p.Thr2618Pro)	ITPR1, LOC126806590 (T2555P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16	GUncertain significance
Select item 3361603	NM_001378452.1(ITPR1):c.4503C>A (p.Ser1501Arg)	ITPR1 (S1477R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360877	NM_001378452.1(ITPR1):c.4112A>G (p.Glu1371Gly)	ITPR1 (E1347G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360768	NM_001378452.1(ITPR1):c.7597G>A (p.Glu2533Lys)	ITPR1 (E2470K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360441	NM_001378452.1(ITPR1):c.1121C>T (p.Thr374Ile)	ITPR1 (T359I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360286	NM_001378452.1(ITPR1):c.1126C>A (p.Arg376Ser)	ITPR1 (R361S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246985	NC_000003.11:g.(?_4854806)_(4859946_?)dup	ITPR1	Duplication	not provided	GLikely pathogenic
Select item 3246983	NC_000003.11:g.(?_4558176)_(4558287_?)del	ITPR1	Deletion	not provided	GPathogenic
Select item 3065640	NM_001378452.1(ITPR1):c.2705C>T (p.Thr902Ile)	ITPR1 (T887I +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16	GUncertain significance
Select item 3065535	NM_001378452.1(ITPR1):c.1216A>G (p.Ile406Val)	ITPR1 (I391V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16	GUncertain significance
Select item 3020229	NM_001378452.1(ITPR1):c.7614G>A (p.Thr2538=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009839	NM_001378452.1(ITPR1):c.7594A>G (p.Lys2532Glu)	ITPR1, LOC126806590 (K2484E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982403	NM_001378452.1(ITPR1):c.7569C>T (p.Val2523=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976157	NM_001378452.1(ITPR1):c.7578A>G (p.Glu2526=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901288	NM_001378452.1(ITPR1):c.7695C>T (p.Ser2565=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869079	NM_001378452.1(ITPR1):c.7702-10T>C	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802734	NM_001378452.1(ITPR1):c.7701+17G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772230	NM_001378452.1(ITPR1):c.7701+14G>C	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695632	NM_001378452.1(ITPR1):c.7697A>G (p.Lys2566Arg)	ITPR1, LOC126806590 (K2518R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690480	NM_001378452.1(ITPR1):c.6657C>T (p.Pro2219=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689265	NM_001378452.1(ITPR1):c.8074G>C (p.Val2692Leu)	ITPR1 (V2629L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684244	NM_001378452.1(ITPR1):c.7826A>C (p.Gln2609Pro)	ITPR1, LOC126806590 (Q2546P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684243	NM_001378452.1(ITPR1):c.7562-10G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2684242	NM_001378452.1(ITPR1):c.6935C>A (p.Thr2312Asn)	ITPR1 (T2249N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684240	NM_001378452.1(ITPR1):c.5087G>A (p.Arg1696Lys)	ITPR1 (R1672K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684237	NM_001378452.1(ITPR1):c.4351T>C (p.Tyr1451His)	ITPR1 (Y1427H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684236	NM_001378452.1(ITPR1):c.303G>C (p.Lys101Asn)	ITPR1 (K101N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684235	NM_001378452.1(ITPR1):c.1813C>A (p.Leu605Ile)	ITPR1 (L590I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684234	NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684233	NM_001378452.1(ITPR1):c.*7G>T	ITPR1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2582551	NM_001378452.1(ITPR1):c.833C>T (p.Ser278Leu)	ITPR1 (S278L)	Single nucleotide variant (missense variant)	Gillespie syndrome	GUncertain significance
Select item 2579145	NM_001378452.1(ITPR1):c.6401A>G (p.Lys2134Arg)	ITPR1 (K2071R +3 more)	Single nucleotide variant (missense variant)	Gillespie syndrome	GUncertain significance
Select item 2505970	NM_001378452.1(ITPR1):c.7591G>A (p.Asp2531Asn)	ITPR1, LOC126806590 (D2468N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436832	NM_001378452.1(ITPR1):c.1252-1G>A	ITPR1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2432936	NM_001378452.1(ITPR1):c.7660G>T (p.Gly2554Trp)	ITPR1, LOC126806590 (G2491W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432935	NM_001378452.1(ITPR1):c.1002C>A (p.Asp334Glu)	ITPR1 (D319E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432934	NM_001378452.1(ITPR1):c.3950A>C (p.Gln1317Pro)	ITPR1 (Q1293P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432933	NM_001378452.1(ITPR1):c.4633T>C (p.Cys1545Arg)	ITPR1 (C1521R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432932	NM_001378452.1(ITPR1):c.4252G>T (p.Val1418Leu)	ITPR1 (V1394L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432931	NM_001378452.1(ITPR1):c.6746A>G (p.Asn2249Ser)	ITPR1 (N2186S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432930	NM_001378452.1(ITPR1):c.1213C>T (p.Pro405Ser)	ITPR1 (P390S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432929	NM_001378452.1(ITPR1):c.826A>C (p.Thr276Pro)	ITPR1 (T276P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432928	NM_001378452.1(ITPR1):c.1015G>A (p.Ala339Thr)	ITPR1 (A324T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432927	NM_001378452.1(ITPR1):c.5011C>G (p.Gln1671Glu)	ITPR1 (Q1647E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430817	NM_001378452.1(ITPR1):c.7867+6T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2429409	NM_001378452.1(ITPR1):c.7438G>C (p.Asp2480His)	ITPR1 (D2417H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416772	NM_001378452.1(ITPR1):c.7867+10G>T	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414901	NM_001378452.1(ITPR1):c.7653G>A (p.Leu2551=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413218	NM_001378452.1(ITPR1):c.7618C>T (p.Leu2540=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110887	NM_001378452.1(ITPR1):c.7702-11C>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010171	NM_001378452.1(ITPR1):c.7702-18G>C	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988100	NM_001378452.1(ITPR1):c.7867+10G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935074	NM_001378452.1(ITPR1):c.7851C>T (p.Thr2617=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927162	NM_001378452.1(ITPR1):c.7701+13C>T	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908271	NM_001378452.1(ITPR1):c.7702-13C>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907694	NM_001378452.1(ITPR1):c.7702-18G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1901740	NM_001378452.1(ITPR1):c.7702-36_7702-17del	ITPR1, LOC126806590	Deletion (intron variant)	not provided	GBenign
Select item 1807479	NM_001378452.1(ITPR1):c.1808G>A (p.Arg603Gln)	ITPR1 (R588Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807478	NM_001378452.1(ITPR1):c.5143C>T (p.Pro1715Ser)	ITPR1 (P1700S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807477	NM_001378452.1(ITPR1):c.5874C>A (p.Ala1958=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807476	NM_001378452.1(ITPR1):c.893A>T (p.Tyr298Phe)	ITPR1 (Y298F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807475	NM_001378452.1(ITPR1):c.7515T>G (p.Cys2505Trp)	ITPR1 (C2442W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807474	NM_001378452.1(ITPR1):c.4538C>G (p.Thr1513Ser)	ITPR1 (T1489S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807472	NM_001378452.1(ITPR1):c.515T>C (p.Ile172Thr)	ITPR1 (I172T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807471	NM_001378452.1(ITPR1):c.6112G>A (p.Val2038Ile)	ITPR1 (V1975I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807468	NM_001378452.1(ITPR1):c.5572G>A (p.Asp1858Asn)	ITPR1 (D1795N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807466	NM_001378452.1(ITPR1):c.1886+7C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807465	NM_001378452.1(ITPR1):c.5780C>T (p.Ala1927Val)	ITPR1 (A1864V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807464	NM_001378452.1(ITPR1):c.5859C>T (p.Gly1953=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807463	NM_001378452.1(ITPR1):c.4606C>T (p.Pro1536Ser)	ITPR1 (P1512S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804311	NM_001378452.1(ITPR1):c.7811T>C (p.Leu2604Pro)	ITPR1, LOC126806590 (L2541P +3 more)	Single nucleotide variant (missense variant)	Gillespie syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1704696	NM_001378452.1(ITPR1):c.7712T>G (p.Phe2571Cys)	ITPR1, LOC126806590 (F2508C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700083	NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)	ITPR1, LOC126806590 (V2483M +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16 +1 more	GConflicting classifications of pathogenicity
Select item 1617547	NM_001378452.1(ITPR1):c.7683C>T (p.Leu2561=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542718	NM_001378452.1(ITPR1):c.7584G>A (p.Thr2528=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528775	NM_001378452.1(ITPR1):c.7701+14G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1470967	NM_001378452.1(ITPR1):c.7654C>T (p.Arg2552Trp)	ITPR1, LOC126806590 (R2537W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342433	NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe)	ITPR1 (I1391F +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GUncertain significance
Select item 1341937	NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro)	ITPR1 (R361P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GUncertain significance
Select item 1324600	NM_001378452.1(ITPR1):c.3703-2A>G	ITPR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1323129	NM_001378452.1(ITPR1):c.2753G>A (p.Gly918Asp)	ITPR1 (G903D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1293543	NM_001378452.1(ITPR1):c.7702-87T>C	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293542	NM_001378452.1(ITPR1):c.7701+39G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278778	NM_001378452.1(ITPR1):c.7701+42T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262278	NM_001378452.1(ITPR1):c.7701+184G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256611	NM_001378452.1(ITPR1):c.6933A>G (p.Gly2311=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256610	NM_001378452.1(ITPR1):c.6300C>G (p.Ala2100=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1256608	NM_001378452.1(ITPR1):c.5770C>T (p.Leu1924Phe)	ITPR1 (L1861F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256607	NM_001378452.1(ITPR1):c.4377G>T (p.Leu1459Phe)	ITPR1 (L1435F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256602	NM_001378452.1(ITPR1):c.1744del (p.Gln582fs)	ITPR1 (Q567fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1251958	NM_001378452.1(ITPR1):c.7605_7606del (p.Thr2535_Cys2536insTer)	ITPR1, LOC126806590	Deletion (frameshift variant)	Gillespie syndrome	GLikely pathogenic
Select item 1245288	NM_001378452.1(ITPR1):c.5725+281C>T	ITPR1, LOC122889021	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232060	NM_001378452.1(ITPR1):c.7562-48T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231920	NM_001378452.1(ITPR1):c.7701+47T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230334	NM_001378452.1(ITPR1):c.7562-59A>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228267	NM_001378452.1(ITPR1):c.7701+165C>T	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226212	NM_001378452.1(ITPR1):c.7701+38C>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223675	NM_001378452.1(ITPR1):c.5725+83G>A	ITPR1, LOC122889021	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217872	NM_001378452.1(ITPR1):c.7647C>T (p.His2549=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1213800	NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)	ITPR1 (L1540P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic

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