"GeneDx"[submitter] AND "ORAI1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 1224104	NC_000012.12:g.121626333G>A	ORAI1	Single nucleotide variant	not provided	GBenign
Select item 1205576	NC_000012.12:g.121626524C>A	LOC130008987, ORAI1	Single nucleotide variant	not provided	GLikely benign
Select item 676708	NM_032790.4(ORAI1):c.-23C>T	LOC130008987, ORAI1	Single nucleotide variant	not provided	GLikely benign
Select item 392578	NM_032790.4(ORAI1):c.-16C>G	LOC130008987, ORAI1	Single nucleotide variant	not provided	GUncertain significance
Select item 3372395	NM_032790.3(ORAI1):c.9G>C	LOC130008987, ORAI1	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 3378152	NM_032790.3(ORAI1):c.16G>C	LOC130008987, ORAI1	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1327879	NM_032790.4(ORAI1):c.59G>A (p.Gly20Asp)	LOC130008987, ORAI1 (G20D)	Single nucleotide variant	not provided	GUncertain significance
Select item 541941	NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg)	LOC130008987, ORAI1 (S34R)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 475180	NM_032790.4(ORAI1):c.137_143CGCCGTC[3] (p.Thr51Argfs)	LOC130008987, ORAI1 (T51fs)	Microsatellite	not provided	GLikely pathogenic
Select item 430344	NM_032790.4(ORAI1):c.140C>T (p.Pro47Leu)	LOC130008987, ORAI1 (P47L)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 more	GUncertain significance
Select item 506816	NM_032790.4(ORAI1):c.240C>T (p.Tyr80=)	LOC130008987, ORAI1	Single nucleotide variant	not specified +3 more	GLikely benign
Select item 1296560	NM_032790.3(ORAI1):c.309-309AAAAG[5]	ORAI1	Microsatellite	not provided	GBenign
Select item 1242719	NM_032790.3(ORAI1):c.309-306_309-305insAGAAAAGAAAA	ORAI1	Microsatellite	not provided	GBenign
Select item 850177	NM_032790.4(ORAI1):c.376T>C (p.Cys126Arg)	ORAI1 (C126R)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 379393	NM_032790.4(ORAI1):c.546C>T (p.Ile182=)	ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +3 more	GBenign
Select item 386153	NM_032790.4(ORAI1):c.576G>A (p.Val192=)	ORAI1	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 379436	NM_032790.4(ORAI1):c.652A>G (p.Ser218Gly)	ORAI1 (S218G)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +3 more	GBenign
Select item 541944	NM_032790.4(ORAI1):c.668A>G (p.Asn223Ser)	ORAI1 (N223S)	Single nucleotide variant	not provided +2 more	GLikely benign
Select item 379437	NM_032790.4(ORAI1):c.705T>C (p.Ala235=)	ORAI1	Single nucleotide variant	not specified +3 more	GBenign
Select item 379438	NM_032790.4(ORAI1):c.786T>C (p.Val262=)	ORAI1	Single nucleotide variant	not specified +3 more	GBenign
Select item 379394	NM_032790.4(ORAI1):c.798T>C (p.Thr266=)	ORAI1	Single nucleotide variant	not provided +3 more	GBenign
Select item 1227827	NM_032790.4(ORAI1):c.*50T>A	ORAI1	Single nucleotide variant	not provided	GBenign
Select item 1243493	NM_032790.4(ORAI1):c.*86C>T	ORAI1	Single nucleotide variant	not provided	GBenign
Select item 1263731	NM_032790.4(ORAI1):c.*119A>G	ORAI1	Single nucleotide variant	not provided	GBenign

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Items: 26