C0557874[trait identifier] AND "Seattle Children's Hospital Molecular - 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 1703660	GRCh37/hg19 4p16.3(chr4:68345-1512353)	ATP5ME, CPLX1 +23 more	Copy number loss	Global developmental delay	GLikely pathogenic
Select item 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	AMELY, BPY2 +82 more	Copy number gain	Global developmental delay	GPathogenic

Format

Sort by

Choose Destination