"GeneDx"[submitter] AND "RBFOX2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 373382	NM_001349999.2(RBFOX2):c.919C>T (p.Pro307Ser)	RBFOX2 (P236S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577600	NM_001349999.2(RBFOX2):c.662A>G (p.Lys221Arg)	RBFOX2 (K150R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577591	NM_001349999.2(RBFOX2):c.547C>G (p.Arg183Gly)	RBFOX2 (R112G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152135	GRCh38/hg38 22q12.3(chr22:35893428-35931051)x1	RBFOX2	Copy number loss	See cases	GUncertain significance
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 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

ClinVar