Related gene-specific medical variations for Gene (Select 23165) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442397	NM_015135.3(NUP205):c.2068G>A (p.Glu690Lys)	NUP205 (E332K +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 13	GUncertain significance
Select item 2434471	NM_015135.3(NUP205):c.2453T>C (p.Leu818Pro)	NUP205 (L460P +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 13	GUncertain significance
Select item 2434470	NM_015135.3(NUP205):c.5789T>A (p.Leu1930Ter)	NUP205 (L1572* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 13	GUncertain significance
Select item 2434469	NM_015135.3(NUP205):c.821C>T (p.Ala274Val)	NUP205 (A274V)	Single nucleotide variant (5 prime UTR variant +1 more)	Nephrotic syndrome, type 13	GUncertain significance
Select item 2434468	NM_015135.3(NUP205):c.5246T>C (p.Ile1749Thr)	NUP205 (I1391T +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 13	GUncertain significance
Select item 1266563	NM_015135.3(NUP205):c.3771+245T>G	LOC123956231, NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810240	GRCh37/hg19 7q33(chr7:135261018-135261162)x3	NUP205	Copy number gain	not provided	GUncertain significance
Select item 591714	NM_015135.3(NUP205):c.1281_1282delinsAT (p.Met427_Gly428delinsIleCys)	NUP205	Indel (missense variant)	not provided	GUncertain significance
Select item 591229	NM_015135.3(NUP205):c.788_789inv (p.Ser263Leu)	NUP205 (S263L)	Inversion (missense variant +1 more)	not provided	GUncertain significance