ClinVar for OMIM (Select 607613) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590324	NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys)	NUP107 (Y889C +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 11	GLikely pathogenic
Select item 219130	NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)	NUP107 (D157Y +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 11	GLikely pathogenic
Select item 219129	NM_020401.4(NUP107):c.969+1G>A	NUP107	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 11	GPathogenic
Select item 219128	NM_020401.4(NUP107):c.1079_1083del (p.Glu360fs)	NUP107 (E331fs +1 more)	Deletion (frameshift variant)	NUP107-related disorder +1 more	GPathogenic
Select item 219127	NM_020401.4(NUP107):c.2492A>C (p.Asp831Ala)	NUP107 (D831A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 11	GPathogenic
Select item 183304	NM_020401.4(NUP107):c.303G>A (p.Met101Ile)	NUP107 (M101I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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