STXBP5-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 3033968	NM_001127715.4(STXBP5):c.-6G>A	LOC129997394, STXBP5 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	STXBP5-related disorder	GBenign
Select item 3171806	NM_001127715.4(STXBP5):c.14A>G (p.Asn5Ser)	LOC129997394, STXBP5 +1 more (N5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar