C1836573[trait identifier] AND "Revvity Omics, Revvity"[submitter] - 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 636328	NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)	MLPH (R24*)	Single nucleotide variant (nonsense +1 more)	Griscelli syndrome type 3 +1 more	GPathogenic
Select item 1324723	NM_024101.7(MLPH):c.332+1G>T	MLPH	Single nucleotide variant (splice donor variant)	Griscelli syndrome type 3	GLikely pathogenic
Select item 2222959	NM_024101.7(MLPH):c.1552C>G (p.Arg518Gly)	MLPH (R490G +3 more)	Single nucleotide variant (missense variant +1 more)	Griscelli syndrome type 3 +2 more	GUncertain significance

Format

Sort by

Choose Destination