"GeneDx"[submitter] AND "LOC130066875"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1210752	NC_000021.9:g.46323895del	LOC130066875, PCNT	Deletion	not provided	GLikely benign
Select item 1300651	NC_000021.9:g.46324025C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GLikely benign
Select item 1228801	NC_000021.9:g.46324040C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GBenign
Select item 1194669	NC_000021.9:g.46324062C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GLikely benign
Select item 138617	NM_006031.6(PCNT):c.-16G>T	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 669290	NM_006031.6(PCNT):c.-15C>G	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

ClinVar