"GeneDx"[submitter] AND "UBE2L3"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145120	GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1	AIFM3, CRKL +52 more	Copy number loss	See cases	GPathogenic
Select item 1291200	NM_001256355.1(UBE2L3):c.201+16878G>C	UBE2L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145114	GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3	CCDC116, LOC110121474 +29 more	Copy number gain	See cases	GUncertain significance
Select item 253531	GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3	CCDC116, GGTLC2 +14 more	Copy number gain	See cases	GPathogenic
Select item 253528	GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1	AIFM3, BCR +40 more	Copy number loss	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
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253433	GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3	BCR, CCDC116 +25 more	Copy number gain	See cases	GPathogenic
Select item 253360	GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1	CCDC116, MAPK1 +13 more	Copy number loss	See cases	GLikely pathogenic