"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PNPLA7" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 768342	NM_001098537.3(PNPLA7):c.2074T>C (p.Leu692=)	PNPLA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Developmental and epileptic encephalopathy, 14 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	DPH7, MRPL41 +28 more	Deletion	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	LCN12, LCN15 +77 more	Deletion	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 830975	NC_000009.12:g.(?_137139467)_(137834973_?)del	ANAPC2, ARRDC1 +27 more	Deletion	Kleefstra syndrome 1	GPathogenic

ClinVar