ClinVar for Gene (Select 3708) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3348676	NM_001378452.1(ITPR1):c.5802C>A (p.Ala1934=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3345453	NM_001378452.1(ITPR1):c.979C>T (p.Leu327=)	ITPR1	Single nucleotide variant (synonymous variant +1 more)	ITPR1-related disorder	GLikely benign
Select item 3344034	NM_001378452.1(ITPR1):c.1943C>T (p.Thr648Ile)	ITPR1 (T633I +1 more)	Single nucleotide variant (missense variant)	ITPR1-related disorder	GUncertain significance
Select item 3343155	NM_001378452.1(ITPR1):c.5833G>A (p.Asp1945Asn)	ITPR1 (D1882N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340731	NM_001378452.1(ITPR1):c.1251+66dup	ITPR1	Duplication (intron variant)	not provided	GLikely benign
Select item 3340684	NM_001378452.1(ITPR1):c.3706G>A (p.Glu1236Lys)	ITPR1 (E1212K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337189	NM_001378452.1(ITPR1):c.6988G>A (p.Ala2330Thr)	ITPR1 (A2267T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337188	NM_001378452.1(ITPR1):c.6517C>T (p.Arg2173Trp)	ITPR1 (R2110W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337187	NM_001378452.1(ITPR1):c.5465A>T (p.Asn1822Ile)	ITPR1 (N1759I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286986	NM_001378452.1(ITPR1):c.3742C>T (p.His1248Tyr)	ITPR1 (H1248Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286985	NM_001378452.1(ITPR1):c.3247C>G (p.Pro1083Ala)	ITPR1 (P1068A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286984	NM_001378452.1(ITPR1):c.5384G>T (p.Arg1795Met)	ITPR1 (R1732M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286983	NM_001378452.1(ITPR1):c.3944A>T (p.Asn1315Ile)	ITPR1 (N1291I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257467	NM_001378452.1(ITPR1):c.3025C>T (p.Arg1009Ter)	ITPR1 (R1000* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3257050	NM_001378452.1(ITPR1):c.1341T>C (p.Asn447=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3252734	NM_001378452.1(ITPR1):c.1533A>T (p.Arg511Ser)	ITPR1 (R496S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252690	NM_001378452.1(ITPR1):c.6291+2C>T	ITPR1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3246985	NC_000003.11:g.(?_4854806)_(4859946_?)dup	ITPR1	Duplication	not provided	GLikely pathogenic
Select item 3246984	NC_000003.11:g.(?_4452529)_(4562798_?)dup	ITPR1, SUMF1	Duplication	not provided	GUncertain significance
Select item 3246983	NC_000003.11:g.(?_4558176)_(4558287_?)del	ITPR1	Deletion	not provided	GPathogenic
Select item 3246852	NC_000003.11:g.(?_4403828)_(4562798_?)dup	ITPR1, SUMF1	Duplication	Multiple sulfatase deficiency	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3239358	NM_001378452.1(ITPR1):c.451T>C (p.Leu151=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233953	NM_001378452.1(ITPR1):c.2979T>C (p.Asn993=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3111748	NM_001378452.1(ITPR1):c.7459G>A (p.Ala2487Thr)	ITPR1 (A2424T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111747	NM_001378452.1(ITPR1):c.7122C>G (p.Ile2374Met)	ITPR1 (I2311M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111746	NM_001378452.1(ITPR1):c.6710A>C (p.Tyr2237Ser)	ITPR1 (Y2189S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111745	NM_001378452.1(ITPR1):c.5612G>A (p.Arg1871Gln)	ITPR1 (R1808Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111744	NM_001378452.1(ITPR1):c.5449A>G (p.Ile1817Val)	ITPR1 (I1754V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111743	NM_001378452.1(ITPR1):c.5396G>T (p.Ser1799Ile)	ITPR1 (S1784I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111742	NM_001378452.1(ITPR1):c.5255A>T (p.Tyr1752Phe)	ITPR1 (Y1689F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111741	NM_001378452.1(ITPR1):c.5254T>A (p.Tyr1752Asn)	ITPR1 (Y1752N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111739	NM_001378452.1(ITPR1):c.4900G>A (p.Val1634Met)	ITPR1 (V1610M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111738	NM_001378452.1(ITPR1):c.4004A>T (p.Lys1335Ile)	ITPR1 (K1311I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111737	NM_001378452.1(ITPR1):c.3265G>A (p.Ala1089Thr)	ITPR1 (A1089T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111736	NM_001378452.1(ITPR1):c.2780-3T>C	ITPR1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3111734	NM_001378452.1(ITPR1):c.2126G>A (p.Arg709His)	ITPR1 (R694H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111733	NM_001378452.1(ITPR1):c.2055G>C (p.Glu685Asp)	ITPR1 (E670D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3062741	GRCh37/hg19 3p26.1(chr3:4495034-4543463)x1	ITPR1, SUMF1	Copy number loss	not specified	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062676	GRCh37/hg19 3p26.2-26.1(chr3:3282609-5207411)x1	ARL8B, BHLHE40 +5 more	Copy number loss	not specified	GPathogenic
Select item 3049300	NM_001378452.1(ITPR1):c.7011G>A (p.Lys2337=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3043778	NM_001378452.1(ITPR1):c.2175G>A (p.Lys725=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3042281	NM_001378452.1(ITPR1):c.3573T>A (p.Ile1191=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3041350	NM_001378452.1(ITPR1):c.1590C>T (p.Cys530=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3037099	NM_001378452.1(ITPR1):c.1701C>T (p.Tyr567=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3032681	NM_001378452.1(ITPR1):c.4480A>G (p.Ser1494Gly)	ITPR1 (S1470G +3 more)	Single nucleotide variant (missense variant)	ITPR1-related disorder	GUncertain significance
Select item 3031760	NM_001378452.1(ITPR1):c.126A>G (p.Glu42=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3031502	NM_001378452.1(ITPR1):c.4755C>T (p.Asn1585=)	ITPR1	Single nucleotide variant (synonymous variant)	ITPR1-related disorder	GLikely benign
Select item 3029668	NM_001378452.1(ITPR1):c.7273-6T>C	ITPR1	Single nucleotide variant (intron variant)	ITPR1-related disorder	GLikely benign
Select item 3029057	NM_001378452.1(ITPR1):c.1152-10del	ITPR1	Deletion (intron variant)	ITPR1-related disorder	GLikely benign
Select item 3023353	NM_001378452.1(ITPR1):c.4843-19G>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022353	NM_001378452.1(ITPR1):c.1986T>A (p.Ala662=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021806	NM_001378452.1(ITPR1):c.6511-4C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020561	NM_001378452.1(ITPR1):c.4657+19T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3019496	NM_001378452.1(ITPR1):c.5832C>T (p.Pro1944=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016389	NM_001378452.1(ITPR1):c.3937G>A (p.Gly1313Ser)	ITPR1 (G1289S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014668	NM_001378452.1(ITPR1):c.2487A>T (p.Glu829Asp)	ITPR1 (E829D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013877	NM_001378452.1(ITPR1):c.1335T>C (p.Phe445=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012550	NM_001378452.1(ITPR1):c.6538A>G (p.Ser2180Gly)	ITPR1 (S2117G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012226	NM_001378452.1(ITPR1):c.2457-15C>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011917	NM_001378452.1(ITPR1):c.2686T>C (p.Leu896=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011797	NM_001378452.1(ITPR1):c.4296C>T (p.Tyr1432=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011688	NM_001378452.1(ITPR1):c.5577G>A (p.Lys1859=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011204	NM_001378452.1(ITPR1):c.4407+14A>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011087	NM_001378452.1(ITPR1):c.7107+15C>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010169	NM_001378452.1(ITPR1):c.8028+20G>A	ITPR1	Single nucleotide variant (intron 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 3007784	NM_001378452.1(ITPR1):c.1592G>C (p.Gly531Ala)	ITPR1 (G516A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006688	NM_001378452.1(ITPR1):c.7561+15C>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006007	NM_001378452.1(ITPR1):c.8190+16C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005987	NM_001378452.1(ITPR1):c.2543T>C (p.Val848Ala)	ITPR1 (V848A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005825	NM_001378452.1(ITPR1):c.3328-17G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005274	NM_001378452.1(ITPR1):c.2112C>G (p.Ser704Arg)	ITPR1 (S689R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004193	NM_001378452.1(ITPR1):c.4843-8C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004104	NM_001378452.1(ITPR1):c.6926G>A (p.Arg2309Gln)	ITPR1 (R2246Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003083	NM_001378452.1(ITPR1):c.1714-20T>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002221	NM_001378452.1(ITPR1):c.6388-15T>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001499	NM_001378452.1(ITPR1):c.7226T>A (p.Ile2409Asn)	ITPR1 (I2409N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000544	NM_001378452.1(ITPR1):c.7433A>C (p.Glu2478Ala)	ITPR1 (E2415A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3000436	NM_001378452.1(ITPR1):c.3756G>A (p.Gln1252=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999853	NM_001378452.1(ITPR1):c.93-18T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999630	NM_001378452.1(ITPR1):c.4493C>G (p.Thr1498Ser)	ITPR1 (T1474S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998702	NM_001378452.1(ITPR1):c.5279G>A (p.Gly1760Glu)	ITPR1 (G1697E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998370	NM_001378452.1(ITPR1):c.1713+14A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998285	NM_001378452.1(ITPR1):c.6994G>T (p.Val2332Phe)	ITPR1 (V2332F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997816	NM_001378452.1(ITPR1):c.8078G>A (p.Ser2693Asn)	ITPR1 (S2630N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996669	NM_001378452.1(ITPR1):c.1251+17G>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994092	NM_001378452.1(ITPR1):c.4050T>C (p.Asp1350=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994060	NM_001378452.1(ITPR1):c.6019T>C (p.Leu2007=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993980	NM_001378452.1(ITPR1):c.4390C>G (p.Leu1464Val)	ITPR1 (L1464V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992220	NM_001378452.1(ITPR1):c.5866G>A (p.Ala1956Thr)	ITPR1 (A1941T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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