"GeneDx"[submitter] AND "LOC130003092"[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 2502630	NM_001128228.3(TPRN):c.361G>A (p.Ala121Thr)	LOC130003092, TPRN (A121T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187226	NM_001128228.3(TPRN):c.335C>T (p.Ala112Val)	LOC130003092, TPRN (A112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1327307	NM_001128228.3(TPRN):c.329C>T (p.Pro110Leu)	LOC130003092, TPRN (P110L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1800975	NM_001128228.3(TPRN):c.320C>T (p.Pro107Leu)	LOC130003092, TPRN (P107L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801058	NM_001128228.3(TPRN):c.310C>T (p.Pro104Ser)	LOC130003092, TPRN (P104S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar