ClinVar for MedGen (Select 390813) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695397	Single allele	BHLHA9, TRARG1	Duplication	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 625580	GRCh37/hg19 17p13.3(chr17:1084016-1278527)	TRARG1, ABR +2 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic

Format

Sort by

Choose Destination