"GeneDx"[submitter] AND "LOC130067528"[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 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1219376	NC_000022.11:g.41092485G>A	EP300, LOC130067528	Single nucleotide variant	not provided	GLikely benign
Select item 1257962	NC_000022.11:g.41092522C>T	EP300, LOC130067528 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

Format

Sort by

Choose Destination