"GeneDx"[submitter] AND "BRME1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 228325	NM_017721.5(CC2D1A):c.748+1G>T	CC2D1A, BRME1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 253840	GRCh37/hg19 19p13.2-13.12(chr19:13802749-14003761)x3	MIR24-2, C19orf53 +8 more	Copy number gain	See cases	GUncertain significance

Format

Sort by

Choose Destination