"Athena Diagnostics Inc"[submitter] AND "ITPR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345337	NM_001378452.1(ITPR1):c.-2A>G	ITPR1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 345338	NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +5 more	GBenign
Select item 345339	NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign/Likely benign
Select item 586039	NM_001378452.1(ITPR1):c.141C>T (p.Asn47=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +1 more	GBenign/Likely benign
Select item 586041	NM_001378452.1(ITPR1):c.182G>C (p.Cys61Ser)	ITPR1 (C61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447581	NM_001378452.1(ITPR1):c.188T>C (p.Met63Thr)	ITPR1 (M63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 345544	NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 345545	NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +3 more	GConflicting classifications of pathogenicity
Select item 900350	NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)	ITPR1 (A86T)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
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 447585	NM_001378452.1(ITPR1):c.361A>T (p.Ile121Phe)	ITPR1 (I121F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 586046	NM_001378452.1(ITPR1):c.366+6T>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 345562	NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign
Select item 804938	NM_001378452.1(ITPR1):c.458A>G (p.Glu153Gly)	ITPR1 (E153G)	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 804943	NM_001378452.1(ITPR1):c.526-8C>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 809405	NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile)	ITPR1 (V212I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447602	NM_001378452.1(ITPR1):c.780G>A (p.Gln260=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 447603	NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 586057	NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)	ITPR1 (T267R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1365552	NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln)	ITPR1 (R269Q)	Single nucleotide variant (missense 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 995128	NM_001378452.1(ITPR1):c.929C>T (p.Thr310Met)	ITPR1 (T310M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345584	NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +3 more	GBenign/Likely benign
Select item 345604	NM_001378452.1(ITPR1):c.997-6C>T	ITPR1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 586058	NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)	ITPR1 (R330Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 345606	NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 345605	NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign
Select item 995163	NM_001378452.1(ITPR1):c.1152-6T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1302702	NM_001378452.1(ITPR1):c.1240G>A (p.Val414Met)	ITPR1 (V399M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345612	NM_001378452.1(ITPR1):c.1251+10G>A	ITPR1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 345641	NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +5 more	GBenign/Likely benign
Select item 994627	NM_001378452.1(ITPR1):c.1380A>G (p.Leu460=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 719633	NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 994628	NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile)	ITPR1 (V469I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 345684	NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)	ITPR1 (V479I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 345685	NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +1 more	GBenign/Likely benign
Select item 345688	NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign
Select item 2684234	NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 804930	NM_001378452.1(ITPR1):c.1554+3C>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 489212	NM_001378452.1(ITPR1):c.1554+6T>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 994629	NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1933943	NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)	ITPR1 (A532S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586040	NM_001378452.1(ITPR1):c.1719T>C (p.Tyr573=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256602	NM_001378452.1(ITPR1):c.1744del (p.Gln582fs)	ITPR1 (Q567fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 994630	NM_001378452.1(ITPR1):c.1833C>T (p.Thr611=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807466	NM_001378452.1(ITPR1):c.1886+7C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 281418	NM_001378452.1(ITPR1):c.1886+7C>T	ITPR1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 345708	NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 733497	NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GLikely benign
Select item 345709	NM_001378452.1(ITPR1):c.2007-7T>G	ITPR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 194942	NM_001378452.1(ITPR1):c.2007-3T>C	ITPR1	Single nucleotide variant (intron variant)	Autosomal dominant cerebellar ataxia +4 more	GBenign/Likely benign
Select item 129298	NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +4 more	GBenign
Select item 586042	NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn)	ITPR1 (D688N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 804931	NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)	ITPR1 (S689T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 586043	NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn)	ITPR1 (S689N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211213	NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr)	ITPR1 (K710T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994631	NM_001378452.1(ITPR1):c.2187C>T (p.Asp729=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1256603	NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile)	ITPR1 (V715I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994632	NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val)	ITPR1 (A727V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195482	NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +3 more	GBenign/Likely benign
Select item 345711	NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 901202	NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys)	ITPR1 (R767C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 345712	NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)	ITPR1 (M754V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 994633	NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly)	ITPR1 (E757G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775841	NM_001378452.1(ITPR1):c.2334C>T (p.Leu778=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 345714	NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 345715	NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 804932	NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +1 more	GBenign/Likely benign
Select item 586044	NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val)	ITPR1 (I880V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586045	NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 447582	NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 447583	NM_001378452.1(ITPR1):c.2780-8T>C	ITPR1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 345717	NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile)	ITPR1 (M939I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1807473	NM_001378452.1(ITPR1):c.2903C>T (p.Ala968Val)	ITPR1 (A944V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804933	NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met)	ITPR1 (V979M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 345720	NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +3 more	GBenign/Likely benign
Select item 804934	NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His)	ITPR1 (D1015H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286499	NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 345723	NM_001378452.1(ITPR1):c.3228C>T (p.His1076=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 994634	NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe)	ITPR1 (L1069F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256604	NM_001378452.1(ITPR1):c.3283C>T (p.Arg1095Trp)	ITPR1 (R1071W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256605	NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 345724	NM_001378452.1(ITPR1):c.3327+4G>A	ITPR1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1807480	NM_001378452.1(ITPR1):c.3437G>A (p.Gly1146Glu)	ITPR1 (G1122E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 345726	NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)	ITPR1 (M1129V +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 1254358	NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met)	ITPR1 (T1141M +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1190697	NM_001378452.1(ITPR1):c.3564+5G>T	ITPR1	Single nucleotide variant (intron variant)	ITPR1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 715727	NM_001378452.1(ITPR1):c.3565-4C>T	ITPR1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 711199	NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign/Likely benign
Select item 447584	NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr)	ITPR1 (A1207T +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16 +5 more	GUncertain significance
Select item 741041	NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)	ITPR1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 29 +3 more	GBenign/Likely benign
Select item 345732	NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +5 more	GBenign/Likely benign
Select item 983089	NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)	ITPR1 (A1232T +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16 +1 more	GUncertain significance
Select item 447586	NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn)	ITPR1 (I1262N +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 804935	NM_001378452.1(ITPR1):c.3872T>G (p.Phe1291Cys)	ITPR1 (F1267C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289460	NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +3 more	GBenign/Likely benign
Select item 447587	NM_001378452.1(ITPR1):c.3916G>A (p.Val1306Ile)	ITPR1 (V1291I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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