"GeneDx"[submitter] AND "ITPR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 1193683	NM_001378452.1(ITPR1):c.-16-344G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191805	NM_001378452.1(ITPR1):c.-16-335A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293508	NM_001378452.1(ITPR1):c.-16-145A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219513	NM_001378452.1(ITPR1):c.-16-117A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269017	NM_001378452.1(ITPR1):c.-16-56T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345337	NM_001378452.1(ITPR1):c.-2A>G	ITPR1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 345338	NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 2446108	NM_001378452.1(ITPR1):c.65C>T (p.Ser22Leu)	ITPR1 (S22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345339	NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +1 more	GBenign/Likely benign
Select item 1293700	NM_001378452.1(ITPR1):c.92+29C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293507	NM_001378452.1(ITPR1):c.93-41T>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662739	NM_001378452.1(ITPR1):c.101A>G (p.Asp34Gly)	ITPR1 (D34G)	Single nucleotide variant (missense variant)	not provided	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 372854	NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)	ITPR1 (R36H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1226165	NM_001378452.1(ITPR1):c.163+132G>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204123	NM_001378452.1(ITPR1):c.163+237G>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191382	NM_001378452.1(ITPR1):c.163+266G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252330	NM_001378452.1(ITPR1):c.164-332T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242275	NM_001378452.1(ITPR1):c.164-281del	ITPR1	Deletion (intron variant)	not provided	GBenign
Select item 1235326	NM_001378452.1(ITPR1):c.164-225G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293523	NM_001378452.1(ITPR1):c.164-203A>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211370	NM_001378452.1(ITPR1):c.164-198_164-195del	ITPR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 345544	NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 388806	NM_001378452.1(ITPR1):c.279C>T (p.His93=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2662380	NM_001378452.1(ITPR1):c.279+4C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1249496	NM_001378452.1(ITPR1):c.279+130G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293529	NM_001378452.1(ITPR1):c.279+155G>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190522	NM_001378452.1(ITPR1):c.279+314A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204386	NM_001378452.1(ITPR1):c.280-170T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2446187	NM_001378452.1(ITPR1):c.326A>C (p.Lys109Thr)	ITPR1 (K109T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309457	NM_001378452.1(ITPR1):c.337A>G (p.Thr113Ala)	ITPR1 (T113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925696	NM_001378452.1(ITPR1):c.356A>G (p.Asn119Ser)	ITPR1 (N119S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1256994	NM_001378452.1(ITPR1):c.367-171G>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345562	NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1191453	NM_001378452.1(ITPR1):c.525C>T (p.Ser175=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1189453	NM_001378452.1(ITPR1):c.526-52C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305270	NM_001378452.1(ITPR1):c.526G>A (p.Val176Met)	ITPR1 (V176M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300430	NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val)	ITPR1 (I178V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1189670	NM_001378452.1(ITPR1):c.624+18T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1218427	NM_001378452.1(ITPR1):c.624+48G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188306	NM_001378452.1(ITPR1):c.624+72C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212334	NM_001378452.1(ITPR1):c.624+238G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198222	NM_001378452.1(ITPR1):c.624+265T>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296610	NM_001378452.1(ITPR1):c.625-257C>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245998	NM_001378452.1(ITPR1):c.625-209A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345565	NM_001378452.1(ITPR1):c.625-14A>T	ITPR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1198870	NM_001378452.1(ITPR1):c.708+28A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 427186	NM_001378452.1(ITPR1):c.731A>G (p.His244Arg)	ITPR1 (H244R)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic/Likely pathogenic
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 1186673	NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)	ITPR1 (F250L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16 +1 more	GPathogenic/Likely pathogenic
Select item 1188484	NM_001378452.1(ITPR1):c.783C>T (p.His261=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 447603	NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 208786	NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	ITPR1 (T267M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +3 more	GPathogenic
Select item 265201	NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	ITPR1 (R269W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +5 more	GPathogenic/Likely pathogenic
Select item 1695780	NM_001378452.1(ITPR1):c.806G>T (p.Arg269Leu)	ITPR1 (R269L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2578105	NM_001378452.1(ITPR1):c.839C>T (p.Ala280Val)	ITPR1 (A280V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219320	NM_001378452.1(ITPR1):c.855+18A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1198952	NM_001378452.1(ITPR1):c.855+50G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229818	NM_001378452.1(ITPR1):c.855+59CT[8]	ITPR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1265376	NM_001378452.1(ITPR1):c.855+86T>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293511	NM_001378452.1(ITPR1):c.855+136A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293510	NM_001378452.1(ITPR1):c.855+165A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234519	NM_001378452.1(ITPR1):c.855+241T>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221106	NM_001378452.1(ITPR1):c.855+308T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275539	NM_001378452.1(ITPR1):c.856-254C>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246442	NM_001378452.1(ITPR1):c.856-151C>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217126	NM_001378452.1(ITPR1):c.856-80T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075174	NM_001378452.1(ITPR1):c.878G>A (p.Arg293Gln)	ITPR1 (R293Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345583	NM_001378452.1(ITPR1):c.882C>T (p.Gly294=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1303023	NM_001378452.1(ITPR1):c.883G>A (p.Gly295Arg)	ITPR1 (G295R)	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 345584	NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign/Likely benign
Select item 1312052	NM_001378452.1(ITPR1):c.951+5G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1258981	NM_001378452.1(ITPR1):c.951+35G>C	ITPR1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1228245	NM_001378452.1(ITPR1):c.951+41G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293514	NM_001378452.1(ITPR1):c.951+51G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257352	NM_001378452.1(ITPR1):c.951+57C>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224926	NM_001378452.1(ITPR1):c.951+75G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262202	NM_001378452.1(ITPR1):c.951+108A>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240481	NM_001378452.1(ITPR1):c.951+109G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293512	NM_001378452.1(ITPR1):c.951+166C>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221945	NM_001378452.1(ITPR1):c.951+268T>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189939	NM_001378452.1(ITPR1):c.952-285T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296228	NM_001378452.1(ITPR1):c.952-156A>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210664	NM_001378452.1(ITPR1):c.996+47C>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174296	NM_001378452.1(ITPR1):c.996+110G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198744	NM_001378452.1(ITPR1):c.997-238_997-237del	ITPR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1277146	NM_001378452.1(ITPR1):c.997-164G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296226	NM_001378452.1(ITPR1):c.997-81T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270908	NM_001378452.1(ITPR1):c.997-32T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345604	NM_001378452.1(ITPR1):c.997-6C>T	ITPR1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1186241	NM_001378452.1(ITPR1):c.1016C>A (p.Ala339Asp)	ITPR1 (A324D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518900	NM_001378452.1(ITPR1):c.1033C>T (p.Arg345Trp)	ITPR1 (R345W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2413072	NM_001378452.1(ITPR1):c.1067T>G (p.Val356Gly)	ITPR1 (V341G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806539	NM_001378452.1(ITPR1):c.1092C>G (p.Ile364Met)	ITPR1 (I349M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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