"GeneDx"[submitter] AND "MED15"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59232	GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1	LOC132090638, LOC132090918 +62 more	Copy number loss	See cases	GPathogenic
Select item 59234	GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1	AIFM3, CRKL +61 more	Copy number loss	See cases	GPathogenic
Select item 1263967	NM_001003891.3(MED15):c.1673-16C>T	MED15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238298	NM_001003891.3(MED15):c.1804-19G>A	MED15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253589	GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3	ARVCF, C22orf39 +36 more	Copy number gain	See cases	GPathogenic
Select item 253570	GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3	ARVCF, C22orf39 +36 more	Copy number gain	See cases	GPathogenic
Select item 253550	GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3	AIFM3, ARVCF +46 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 253416	GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 253401	GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253390	GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253383	GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1	CLTCL1, COMT +43 more	Copy number loss	See cases	GPathogenic