ClinVar for MedGen (Select 1675829) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327014	NM_018230.3(NUP133):c.1263C>T (p.Asn421=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 996957	NM_018230.3(NUP133):c.2992dup (p.Gln998fs)	NUP133 (Q998fs)	Duplication (frameshift variant)	Galloway-Mowat syndrome 8	GLikely pathogenic
Select item 619944	NM_018230.3(NUP133):c.3335-11T>A	NUP133	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 8	GPathogenic

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