SLC39A13-AS1[gene] - ClinVar - NCBI

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Items: 13

	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 3250508	NR_182304.1(SLC39A13-AS1):n.347dup	SLC39A13-AS1	Duplication (non-coding transcript variant)	not provided	GBenign
Select item 512793	NM_001128225.3(SLC39A13):c.-33G>C	SLC39A13, SLC39A13-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390363	NM_001128225.3(SLC39A13):c.-32G>T	SLC39A13, SLC39A13-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 517012	NM_001128225.3(SLC39A13):c.-29CGC[7]	SLC39A13-AS1, SLC39A13	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1702276	NM_001128225.3(SLC39A13):c.-9+3G>A	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 432424	NM_001128225.3(SLC39A13):c.-9+3G>T	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1239745	NM_001128225.3(SLC39A13):c.-9+245T>C	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2436025	NM_001128225.3(SLC39A13):c.-9+256T>C	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance