"Baylor Genetics"[submitter] AND "MINK1"[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 243031	NM_000080.4(CHRNE):c.1327del	C17orf107, CHRNE +1 more	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 1A +4 more	GPathogenic
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic