CASC17[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	LOC129390924, LOC129390925 +59 more	Copy number loss	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57404	GRCh38/hg38 17q24.3(chr17:69766783-71154921)x1	CASC17, KCNJ16 +18 more	Copy number loss	See cases	GUncertain significance
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 152589	GRCh38/hg38 17q24.3(chr17:70089117-71111424)x3	CASC17, KCNJ16 +12 more	Copy number gain	See cases	GLikely benign
Select item 39777	NC_000017.11:g.(?_70643580)_(71603774_?)del	CASC17, LOC108004545 +10 more	Deletion	Acampomelic campomelic dysplasia with autosomal sex reversal	GPathogenic

ClinVar