"Baylor Genetics"[submitter] AND "MCOLN1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 813499	NM_020533.3(MCOLN1):c.680+1G>A	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GPathogenic
Select item 208021	NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	MCOLN1 (T232P)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 1028660	NM_020533.3(MCOLN1):c.785T>C (p.Phe262Ser)	MCOLN1 (F262S)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 5133	NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	MCOLN1 (R322*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV +2 more	GPathogenic/Likely pathogenic
Select item 371019	NM_020533.3(MCOLN1):c.984+1G>A	MCOLN1	Single nucleotide variant (splice donor variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 5135	NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	MCOLN1 (D362Y)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +1 more	GPathogenic/Likely pathogenic
Select item 813500	NM_020533.3(MCOLN1):c.1149C>G (p.Tyr383Ter)	MCOLN1 (Y383*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 813501	NM_020533.3(MCOLN1):c.1308C>G (p.Tyr436Ter)	MCOLN1 (Y436*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GLikely pathogenic
Select item 208029	NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)	MCOLN1 (S488fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic