"GeneDx"[submitter] AND "LOC126862570"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1270607	NM_000988.5(RPL27):c.-25del	LOC126862570, RPL27	Deletion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1240832	NM_000988.5(RPL27):c.-20G>C	LOC126862570, RPL27	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1182827	NM_000988.5(RPL27):c.-3+33C>T	LOC126862570, RPL27	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1251530	NM_000988.5(RPL27):c.81+101G>A	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292753	NM_000988.5(RPL27):c.81+135T>C	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar