"GeneDx"[submitter] AND "ARF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 3372818	NM_001658.4(ARF1):c.138T>G (p.Ile46Met)	ARF1, LOC126806039 (I46M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253556	NM_001658.4(ARF1):c.202G>A (p.Val68Met)	ARF1, LOC126806039 (V68M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2579992	NM_001658.4(ARF1):c.334_358del (p.Ala112fs)	ARF1, LOC126806039 (A112fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3368478	NM_001658.4(ARF1):c.412G>A (p.Glu138Lys)	ARF1, LOC126806039 (E138K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar