ClinVar for MedGen (Select 1679283) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067843	NM_020401.4(NUP107):c.1063C>T (p.Arg355Cys)	NUP107 (R326C +1 more)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 7	GLikely pathogenic
Select item 1286822	NM_020401.4(NUP107):c.1998+14G>T	NUP107	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 7 +2 more	GBenign
Select item 1281812	NM_020401.4(NUP107):c.72G>A (p.Arg24=)	NUP107	Single nucleotide variant (5 prime UTR variant +1 more)	Nephrotic syndrome, type 11 +2 more	GBenign
Select item 1261514	NM_020401.4(NUP107):c.1998+15G>T	NUP107	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 11 +2 more	GBenign
Select item 774484	NM_020401.4(NUP107):c.353G>A (p.Arg118His)	NUP107 (R118H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 619945	NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr)	NUP107 (C442Y +1 more)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 7	GPathogenic
Select item 183304	NM_020401.4(NUP107):c.303G>A (p.Met101Ile)	NUP107 (M101I +1 more)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 7 +1 more	GPathogenic

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