"Institute of Medical Genetics and Applied Genomics, University Hospit - 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 1275784	NM_001242957.3(MAK):c.639C>A (p.Cys213Ter)	MAK (C179* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1184969	NM_001242957.3(MAK):c.475del (p.Tyr159fs)	MAK (Y125fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1810762	NM_001242957.3(MAK):c.7_10dup (p.Tyr4fs)	MAK (Y4fs)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 62	GPathogenic

Format

Sort by

Choose Destination