XIRP2-AS1[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 153905	GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1	B3GALT1, LOC122847309 +4 more	Copy number loss	See cases	GLikely benign
Select item 2310287	NM_152381.6(XIRP2):c.428G>A (p.Ser143Asn)	XIRP2, XIRP2-AS1 (S143N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049522	NM_152381.6(XIRP2):c.461G>A (p.Gly154Glu)	XIRP2, XIRP2-AS1 (G154E)	Single nucleotide variant (missense variant)	XIRP2-related condition	GLikely benign
Select item 2245528	NM_152381.6(XIRP2):c.464G>T (p.Ser155Ile)	XIRP2-AS1, XIRP2 (S155I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403612	NM_152381.6(XIRP2):c.472G>A (p.Glu158Lys)	XIRP2, XIRP2-AS1 (E158K)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2290780	NM_152381.6(XIRP2):c.519T>G (p.Phe173Leu)	XIRP2-AS1, XIRP2 (F173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance