ClinVar for MedGen (Select 350085) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802278	NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)	ITPR1 (L590V +1 more)	Single nucleotide variant (missense variant)	ITPR1-related syndromic and non-syndromic hereditary ataxias +1 more	GUncertain significance
Select item 1350168	NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	ITPR1 (R36C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 1341531	NM_001378452.1(ITPR1):c.1252-10T>A	ITPR1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 29 +2 more	GUncertain significance
Select item 1285490	NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)	ITPR1 (E497K +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 1258981	NM_001378452.1(ITPR1):c.951+35G>C	ITPR1	Single nucleotide variant (intron variant)	Gillespie syndrome +3 more	GBenign
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
Select item 1202127	NM_001378452.1(ITPR1):c.1554+17G>A	ITPR1	Single nucleotide variant (intron variant)	Gillespie syndrome +3 more	GBenign/Likely benign
Select item 1170008	NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)	ITPR1	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 15/16 +3 more	GBenign
Select item 1098659	NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser)	ITPR1 (G1043S +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GUncertain significance
Select item 1050806	NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)	ITPR1 (T252I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 1050804	NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)	ITPR1, LOC126806590 (T2537P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 1028569	NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp)	ITPR1 (N107D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GUncertain significance
Select item 1028565	NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln)	ITPR1 (H377Q +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GUncertain significance
Select item 1027414	NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu)	ITPR1 (G924E +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 1027413	NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)	ITPR1 (R241K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GPathogenic/Likely pathogenic
Select item 981619	NM_001378452.1(ITPR1):c.7766T>C (p.Val2589Ala)	ITPR1, LOC126806590 (V2526A +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GUncertain significance
Select item 978770	NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His)	ITPR1 (R1599H +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +1 more	GUncertain significance
Select item 975252	NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile)	ITPR1 (M1809I +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 915289	NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)	ITPR1 (R489G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 902788	NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met)	ITPR1 (V2210M +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +5 more	GUncertain significance
Select item 804939	NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)	ITPR1	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 15/16 +3 more	GBenign
Select item 801924	NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)	ITPR1 (N2006S +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GUncertain significance
Select item 801923	NM_001378452.1(ITPR1):c.4407+44GT[18]	ITPR1	Microsatellite (intron variant)	not provided +1 more	GBenign
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 623657	NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser)	ITPR1 (G921S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 585154	NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)	ITPR1 (V1421M +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 559630	NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)	ITPR1, LOC126806590 (I2535T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 520945	NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	ITPR1, LOC126806590 (G2487R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 503528	NM_001378452.1(ITPR1):c.1606C>T (p.Leu536Phe)	ITPR1 (L521F +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely benign
Select item 503527	NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp)	ITPR1 (E1660D +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely benign
Select item 503526	NM_001378452.1(ITPR1):c.4435C>T (p.His1479Tyr)	ITPR1 (H1464Y +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely benign
Select item 503525	NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)	ITPR1 (L2436P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GPathogenic
Select item 503524	NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)	ITPR1 (A2102S +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 503523	NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)	ITPR1 (R553G +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GPathogenic
Select item 453136	NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)	ITPR1 (E246K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 345782	NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +5 more	GBenign/Likely benign
Select item 345737	NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)	ITPR1 (I1406V +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 345735	NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +5 more	GBenign/Likely benign
Select item 345733	NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +6 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 345727	NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)	ITPR1 (D1139G +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +4 more	GBenign/Likely benign
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 345716	NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)	ITPR1 (A896V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +3 more	GConflicting classifications of pathogenicity
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 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 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 265201	NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	ITPR1 (R269W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +5 more	GConflicting classifications of pathogenicity
Select item 253023	NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)	ITPR1 (L1787P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GPathogenic
Select item 243076	NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala)	ITPR1, LOC126806590 (G2547A +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 235922	NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	ITPR1, LOC126806590 (G2539R +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +3 more	GPathogenic/Likely pathogenic
Select item 216945	NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile)	ITPR1 (S277I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GLikely pathogenic
Select item 208786	NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	ITPR1 (T267M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 129304	NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +4 more	GBenign
Select item 129303	NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +4 more	GBenign
Select item 129302	NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +5 more	GBenign
Select item 129299	NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +4 more	GBenign
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 39572	NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)	ITPR1 (N602D +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GPathogenic
Select item 39571	NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)	ITPR1 (V1553M +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GPathogenic

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Items: 63