"GeneDx"[submitter] AND "LOC126806590"[gene] - ClinVar

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Items: 43

	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 60052	GRCh38/hg38 3p26.1(chr3:4746966-5426775)x1	ARL8B, BHLHE40 +53 more	Copy number loss	See cases	GUncertain significance
Select item 1196632	NM_001378452.1(ITPR1):c.7562-322G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193273	NM_001378452.1(ITPR1):c.7562-205G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230334	NM_001378452.1(ITPR1):c.7562-59A>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209085	NM_001378452.1(ITPR1):c.7562-56C>T	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232060	NM_001378452.1(ITPR1):c.7562-48T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167161	NM_001378452.1(ITPR1):c.7562-20G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193046	NM_001378452.1(ITPR1):c.7583C>T (p.Thr2528Met)	ITPR1, LOC126806590 (T2465M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505970	NM_001378452.1(ITPR1):c.7591G>A (p.Asp2531Asn)	ITPR1, LOC126806590 (D2468N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 586055	NM_001378452.1(ITPR1):c.7630G>A (p.Val2544Ile)	ITPR1, LOC126806590 (V2529I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 129303	NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	Gillespie syndrome +4 more	GBenign
Select item 1700083	NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)	ITPR1, LOC126806590 (V2483M +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16 +1 more	GConflicting classifications of pathogenicity
Select item 1217872	NM_001378452.1(ITPR1):c.7647C>T (p.His2549=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 520945	NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	ITPR1, LOC126806590 (G2487R +3 more)	Single nucleotide variant (missense variant)	Gillespie syndrome +4 more	GConflicting classifications of pathogenicity
Select item 235923	NM_001378452.1(ITPR1):c.7660G>C (p.Gly2554Arg)	ITPR1, LOC126806590 (G2539R +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 235922	NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	ITPR1, LOC126806590 (G2539R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 129304	NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	Gillespie syndrome +4 more	GBenign
Select item 586056	NM_001378452.1(ITPR1):c.7701+3A>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	Autosomal dominant cerebellar ataxia +1 more	GBenign/Likely benign
Select item 1195723	NM_001378452.1(ITPR1):c.7701+22G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211486	NM_001378452.1(ITPR1):c.7701+29C>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187794	NM_001378452.1(ITPR1):c.7701+29C>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226212	NM_001378452.1(ITPR1):c.7701+38C>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293542	NM_001378452.1(ITPR1):c.7701+39G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278778	NM_001378452.1(ITPR1):c.7701+42T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231920	NM_001378452.1(ITPR1):c.7701+47T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228267	NM_001378452.1(ITPR1):c.7701+165C>T	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262278	NM_001378452.1(ITPR1):c.7701+184G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293543	NM_001378452.1(ITPR1):c.7702-87T>C	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193534	NM_001378452.1(ITPR1):c.7702-40G>A	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704696	NM_001378452.1(ITPR1):c.7712T>G (p.Phe2571Cys)	ITPR1, LOC126806590 (F2508C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732459	NM_001378452.1(ITPR1):c.7719T>A (p.Ala2573=)	LOC126806590, ITPR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 429586	NM_001378452.1(ITPR1):c.7775T>C (p.Leu2592Pro)	ITPR1, LOC126806590 (L2529P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3371899	NM_001378452.1(ITPR1):c.7780T>A (p.Phe2594Ile)	ITPR1, LOC126806590 (F2531I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224119	NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)	ITPR1, LOC126806590 (G2580E +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16 +1 more	GPathogenic
Select item 559630	NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)	ITPR1, LOC126806590 (I2535T +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +1 more	GPathogenic/Likely pathogenic
Select item 1804311	NM_001378452.1(ITPR1):c.7811T>C (p.Leu2604Pro)	ITPR1, LOC126806590 (L2541P +3 more)	Single nucleotide variant (missense variant)	Gillespie syndrome +1 more	GConflicting classifications of pathogenicity
Select item 235919	NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del)	LOC126806590, ITPR1 (K2563del +3 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
Select item 2430817	NM_001378452.1(ITPR1):c.7867+6T>G	ITPR1, LOC126806590	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 43