LOC130005671[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 2591913	NM_001610.4(ACP2):c.110C>G (p.Thr37Ser)	ACP2, LOC130005671 +1 more (T37S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 558909	NM_001610.4(ACP2):c.86G>A (p.Arg29Gln)	ACP2, LOC130005671 +1 more (R29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3138725	NM_001610.4(ACP2):c.32C>A (p.Ala11Glu)	ACP2, LOC130005671 +1 more (A11E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 786418	NM_001610.4(ACP2):c.28C>T (p.Arg10Trp)	ACP2, LOC130005671 +1 more (R10W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

ClinVar