3708[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 154669	GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1	CHL1, CHL1-AS1 +72 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
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 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	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 57737	GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1	CHL1, CHL1-AS1 +66 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 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 153453	GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3	ARL8B, BHLHE40 +92 more	Copy number gain	See cases	GUncertain significance
Select item 560157	Single allele	ITPR1, ITPR1-DT +18 more	Deletion	Spinocerebellar ataxia type 15/16	GPathogenic
Select item 148037	GRCh38/hg38 3p26.1(chr3:4433667-4521002)x1	ITPR1, ITPR1-DT +10 more	Copy number loss	See cases	GUncertain significance
Select item 155690	GRCh38/hg38 3p26.1(chr3:4471708-4531661)x1	ITPR1, ITPR1-DT +7 more	Copy number loss	See cases	GPathogenic
Select item 14800	NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del	EGOT, LOC129936063 +12 more	Deletion	Spinocerebellar ataxia type 15/16	GPathogenic
Select item 345331	NM_001378452.1(ITPR1):c.-342C>T	ITPR1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 902256	NM_001378452.1(ITPR1):c.-341A>T	ITPR1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GBenign
Select item 902257	NM_001378452.1(ITPR1):c.-315C>T	ITPR1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GBenign
Select item 345332	NM_001378452.1(ITPR1):c.-244G>A	ITPR1, LOC129936059	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GBenign
Select item 345333	NM_001378452.1(ITPR1):c.-158C>G	ITPR1, LOC129936059	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 345334	NM_001378452.1(ITPR1):c.-143C>A	ITPR1, LOC129936059	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 345335	NM_001378452.1(ITPR1):c.-103C>T	ITPR1, LOC129936059	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 345336	NM_001378452.1(ITPR1):c.-81A>G	ITPR1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GBenign
Select item 902258	NM_001378452.1(ITPR1):c.-63C>T	ITPR1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
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 653258	NM_001378452.1(ITPR1):c.2T>C (p.Met1Thr)	ITPR1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818399	NM_001378452.1(ITPR1):c.20G>A (p.Ser7Asn)	ITPR1 (S7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995737	NM_001378452.1(ITPR1):c.33T>C (p.Ile11=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 903129	NM_001378452.1(ITPR1):c.48T>A (p.Ser16=)	ITPR1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 2888629	NM_001378452.1(ITPR1):c.54C>T (p.Tyr18=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944548	NM_001378452.1(ITPR1):c.55G>A (p.Ala19Thr)	ITPR1 (A19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 145660	GRCh38/hg38 3p26.1(chr3:4520943-4952817)x3	BHLHE40-AS1, EGOT +13 more	Copy number gain	See cases	GUncertain significance
Select item 1293507	NM_001378452.1(ITPR1):c.93-41T>G	ITPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2999853	NM_001378452.1(ITPR1):c.93-18T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854522	NM_001378452.1(ITPR1):c.93C>T (p.Gly31=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 809404	NM_001378452.1(ITPR1):c.100G>A (p.Asp34Asn)	ITPR1 (D34N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1918233	NM_001378452.1(ITPR1):c.133G>A (p.Asp45Asn)	ITPR1 (D45N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481923	NM_001378452.1(ITPR1):c.136C>G (p.Leu46Val)	ITPR1 (L46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713196	NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser)	ITPR1 (N47S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2270818	NM_001378452.1(ITPR1):c.141C>G (p.Asn47Lys)	ITPR1 (N47K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1899676	NM_001378452.1(ITPR1):c.163+13C>T	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1923720	NM_001378452.1(ITPR1):c.164-13G>A	ITPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095280	NM_001378452.1(ITPR1):c.164-3T>C	ITPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2187129	NM_001378452.1(ITPR1):c.178C>G (p.Leu60Val)	ITPR1 (L60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796612	NM_001378452.1(ITPR1):c.178C>T (p.Leu60=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 specified +2 more	GBenign
Select item 2081785	NM_001378452.1(ITPR1):c.199T>G (p.Ser67Ala)	ITPR1 (S67A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572528	NM_001378452.1(ITPR1):c.226G>A (p.Ala76Thr)	ITPR1 (A76T)	Single nucleotide variant (missense variant)	Gillespie syndrome	GUncertain significance
Select item 2237277	NM_001378452.1(ITPR1):c.248C>G (p.Thr83Ser)	ITPR1 (T83S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 345545	NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 900350	NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)	ITPR1 (A86T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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