PSMD6-AS2[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 150515	GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1	ATXN7, C3orf49 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2559710	NM_014814.3(PSMD6):c.1075C>A (p.Pro359Thr)	PSMD6, PSMD6-AS2 (P321T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374128	NM_014814.3(PSMD6):c.1021G>A (p.Gly341Arg)	PSMD6, PSMD6-AS2 (G303R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar