"GeneDx"[submitter] AND "PNPLA3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 59061	GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3	LOC114004363, LOC121627950 +27 more	Copy number gain	See cases	GUncertain significance
Select item 341932	NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)	PNPLA3 (I148M)	Single nucleotide variant (missense variant)	Hepatic steatosis +2 more	GConflicting classifications of pathogenicity; risk factor
Select item 341933	NM_025225.3(PNPLA3):c.447C>T (p.Pro149=)	PNPLA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 341943	NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu)	PNPLA3 (K434E)	Single nucleotide variant (missense variant)	NAFLD1 +1 more	GConflicting classifications of pathogenicity
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

ClinVar