Related gene-specific medical variations for Gene (Select 79083) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1275303	NM_024101.7(MLPH):c.333-21A>G	MIR6811, MLPH	Single nucleotide variant (non-coding transcript variant +1 more)	Griscelli syndrome type 3 +1 more	GBenign
Select item 744408	NM_024101.7(MLPH):c.333-10G>A	MIR6811, MLPH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign