Related gene-specific medical variations for Gene (Select 51324) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3571930	NM_016630.7(SPG21):c.47C>G (p.Thr16Arg)	SPG21 (T16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989200	NM_016630.7(SPG21):c.345_346del (p.Gln116fs)	SPG21 (Q116fs +1 more)	Deletion (frameshift variant)	Mast syndrome	GPathogenic
Select item 930348	NM_016630.7(SPG21):c.452+2dup	SPG21	Duplication (splice donor variant)	Mast syndrome	GUncertain significance

Format

Sort by

Choose Destination