"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MCOLN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5136	NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	MCOLN1 (R102*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 419813	NM_020533.3(MCOLN1):c.405+1G>A	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV +1 more	GPathogenic/Likely pathogenic
Select item 5131	NM_020533.3(MCOLN1):c.406-2A>G	MCOLN1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 208039	NM_020533.3(MCOLN1):c.920del (p.Leu307fs)	MCOLN1 (L307fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 261323	NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)	MCOLN1	Single nucleotide variant (synonymous variant)	Mucolipidosis type IV +2 more	GBenign/Likely benign
Select item 5137	NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)	MCOLN1 (R403C)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 240703	NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	MCOLN1, PNPLA6 (V22L +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign

ClinVar