C5orf49[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 979667	GRCh37/hg19 5p15.31(chr5:7619352-8166508)x3	ADCY2, FASTKD3 +2 more	Copy number gain	not provided	GLikely benign
Select item 814662	GRCh37/hg19 5p15.31(chr5:7263294-8372692)x3	FASTKD3, ADCY2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814659	GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	CCT5, ADAMTS16 +27 more	Copy number loss	not provided	GPathogenic
Select item 563034	GRCh37/hg19 5p15.31(chr5:7831677-9214028)x3	FASTKD3, MTRR +2 more	Copy number gain	not provided	GUncertain significance
Select item 563032	GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3	ATPSCKMT, ADCY2 +19 more	Copy number gain	not provided	GPathogenic
Select item 563031	GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1	RETREG1, ANKRD33B +31 more	Copy number loss	not provided	GPathogenic
Select item 393852	GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3	ADAMTS16, ADCY2 +39 more	Copy number gain	See cases	GPathogenic
Select item 226174	GRCh37/hg19 5p15.31(chr5:7198626-8305678)	ADCY2, MTRR +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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