ClinVar for MedGen (Select 898622) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681772	NM_020401.4(NUP107):c.727A>G (p.Thr243Ala)	NUP107 (T214A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 11	GUncertain significance
Select item 2681771	NM_020401.4(NUP107):c.1451_1453del (p.Gly484del)	NUP107 (G455del +1 more)	Deletion (inframe_deletion)	Nephrotic syndrome, type 11	GUncertain significance
Select item 1705532	NM_020401.4(NUP107):c.824_826del (p.Ser275del)	NUP107 (S246del +1 more)	Deletion (inframe_deletion)	Nephrotic syndrome, type 11	GUncertain significance
Select item 1687223	NM_020401.4(NUP107):c.580C>T (p.Arg194Ter)	NUP107 (R165* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 11	GLikely pathogenic
Select item 1685387	NM_020401.4(NUP107):c.2544_2555del (p.Leu848_Leu852delinsPhe)	NUP107	Deletion (inframe_indel)	Nephrotic syndrome, type 11	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 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)	Nephrotic syndrome, type 11	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