LOC126863123[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 2111347	NM_001326411.2(PISD):c.65+13G>A	LOC126863123, PISD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1503618	NM_001326411.2(PISD):c.65+6G>A	LOC126863123, PISD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1422024	NM_001326411.2(PISD):c.65G>T (p.Ser22Ile)	LOC126863123, PISD (S22I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3013851	NM_001326411.2(PISD):c.53C>T (p.Pro18Leu)	LOC126863123, PISD (P18L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988569	NM_001326411.2(PISD):c.49G>A (p.Ala17Thr)	LOC126863123, PISD (A17T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941669	NM_001326411.2(PISD):c.48C>T (p.Val16=)	LOC126863123, PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1897700	NM_001326411.2(PISD):c.43G>A (p.Gly15Arg)	LOC126863123, PISD (G15R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1633376	NM_001326411.2(PISD):c.42C>T (p.His14=)	LOC126863123, PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189051	NM_001326411.2(PISD):c.32G>C (p.Gly11Ala)	LOC126863123, PISD (G11A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1564905	NM_001326411.2(PISD):c.28C>T (p.Leu10=)	LOC126863123, PISD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1380894	NM_001326411.2(PISD):c.23G>C (p.Arg8Pro)	LOC126863123, PISD (R8P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787851	NM_001326411.2(PISD):c.16G>A (p.Gly6Arg)	LOC126863123, PISD (G6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1392657	NM_001326411.2(PISD):c.10T>C (p.Ser4Pro)	LOC126863123, PISD (S4P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance