"ISCA Site 6"[submitter] AND "RP9"[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 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 394705	GRCh37/hg19 7p14.3(chr7:33134559-33139024)x3	RP9	Copy number gain	See cases	GBenign/Likely benign

Format

Sort by

Choose Destination