Related gene-specific medical variations for Gene (Select 4478) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246529	NC_000023.10:g.(?_64887709)_(64887740_?)del	MSN	Deletion	not provided	GUncertain significance
Select item 1252064	NM_002444.3(MSN):c.1056del (p.Lys352fs)	MSN (K352fs)	Deletion (frameshift variant)	Combined immunodeficiency due to moesin deficiency	GPathogenic
Select item 636909	NM_002444.3(MSN):c.1580C>A (p.Ser527Ter)	MSN (S527*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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