"GeneDx"[submitter] AND "LOC130060054"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 1199737	NM_005022.4(PFN1):c.-58C>G	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1234360	NM_005022.4(PFN1):c.-78C>T	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1215785	NM_005022.4(PFN1):c.-86G>A	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1179916	NM_005022.4(PFN1):c.-132C>T	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1295407	NC_000017.11:g.4948573dup	LOC130060054, PFN1	Duplication	not provided	GBenign
Select item 1228307	NC_000017.11:g.4948573del	LOC130060054, PFN1	Deletion	not provided	GBenign

ClinVar