"GeneDx"[submitter] AND "LOC130003122"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 1206614	NM_001130969.3(NSMF):c.-159GACCCCGAGCCC[1]	LOC130003122, NSMF	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1266758	NM_001130969.3(NSMF):c.-229T>C	LOC130003122, NSMF	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar