"Myriad Genetics, Inc."[submitter] AND "MCOLN1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726094	NM_020533.3(MCOLN1):c.11dup (p.Ala5fs)	LOC130063376, MCOLN1 (A5fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1724318	NM_020533.3(MCOLN1):c.63del (p.Tyr22fs)	MCOLN1 (Y22fs)	Deletion (frameshift variant)	MCOLN1-related condition +1 more	GLikely pathogenic
Select item 1725999	NM_020533.3(MCOLN1):c.117del (p.Asp40fs)	MCOLN1 (D40fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1724043	NM_020533.3(MCOLN1):c.141C>G (p.Tyr47Ter)	MCOLN1 (Y47*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 419813	NM_020533.3(MCOLN1):c.405+1G>A	MCOLN1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5131	NM_020533.3(MCOLN1):c.406-2A>G	MCOLN1	Single nucleotide variant (splice acceptor variant)	Mucolipidosis +2 more	GPathogenic
Select item 1726444	NM_020533.3(MCOLN1):c.499del (p.Gln167fs)	MCOLN1 (Q167fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1726914	NM_020533.3(MCOLN1):c.520del (p.His174fs)	MCOLN1 (H174fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1725915	NM_020533.3(MCOLN1):c.608del (p.Pro203fs)	MCOLN1 (P203fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 1724921	NM_020533.3(MCOLN1):c.679A>T (p.Lys227Ter)	MCOLN1 (K227*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 1726055	NM_020533.3(MCOLN1):c.865_866insACTG (p.Val289fs)	MCOLN1 (V289fs)	Insertion (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic
Select item 1725347	NM_020533.3(MCOLN1):c.1230delinsTCAGG (p.Tyr411fs)	MCOLN1 (Y411fs)	Indel (frameshift variant)	Mucolipidosis type IV	GLikely pathogenic