"GeneDx"[submitter] AND "LOC126860549"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 504037	NM_078480.3(PUF60):c.24+3_24+6del	LOC126860549, PUF60	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 421831	NM_078480.3(PUF60):c.24+1G>A	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 3365450	NM_078480.3(PUF60):c.19G>C (p.Ala7Pro)	LOC126860549, PUF60 (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803493	NM_078480.3(PUF60):c.19G>A (p.Ala7Thr)	LOC126860549, PUF60 (A7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575531	NM_078480.3(PUF60):c.-1G>A	LOC126860549, PUF60	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

ClinVar