"GeneDx"[submitter] AND "LOC129937587"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 60091	GRCh38/hg38 3q22.1(chr3:132639520-132972626)x1	ACAD11, LOC129937585 +8 more	Copy number loss	See cases	GUncertain significance
Select item 57793	GRCh38/hg38 3q22.1(chr3:132662034-133263499)x3	LOC112903835, LOC112903836 +11 more	Copy number gain	See cases	GUncertain significance
Select item 418808	NM_153240.4(NPHP3):c.-77_-50del28	NPHP3-ACAD11, LOC129937587 +2 more	Deletion (non-coding transcript variant)	not specified	GBenign
Select item 343395	NM_153240.4(NPHP3):c.-69A>G	NPHP3-AS1, LOC129937587 +2 more	Single nucleotide variant (non-coding transcript variant)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GBenign
Select item 1220451	NC_000003.12:g.132722532_132722549dup	LOC129937587, NPHP3 +1 more	Duplication	not provided	GLikely benign
Select item 1202454	NC_000003.12:g.132722558G>C	LOC129937587, NPHP3 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1264441	NC_000003.12:g.132722738G>C	LOC129937587, NPHP3 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1280899	NC_000003.12:g.132722795G>C	LOC129937587, NPHP3 +1 more	Single nucleotide variant	not provided	GBenign

ClinVar