Related gene-specific medical variations for Gene (Select 23279) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203027	NM_015231.2(NUP160):c.49G>A (p.Ala17Thr)	LOC130005685, NUP160 (A17T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3065664	NM_015231.3(NUP160):c.2755G>A (p.Glu919Lys)	NUP160 (E919K)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 19	GUncertain significance
Select item 3052609	NM_015231.2(NUP160):c.9C>T (p.His3=)	LOC130005685, NUP160	Single nucleotide variant (synonymous variant)	NUP160-related condition	GLikely benign
Select item 3030765	NM_015231.2(NUP160):c.11T>C (p.Leu4Pro)	LOC130005685, NUP160 (L4P)	Single nucleotide variant (missense variant)	NUP160-related condition	GUncertain significance
Select item 3030134	NM_015231.3(NUP160):c.18C>T (p.Ala6=)	LOC130005685, NUP160	Single nucleotide variant (synonymous variant +1 more)	NUP160-related condition	GLikely benign
Select item 2764914	NM_015231.2(NUP160):c.16G>T (p.Ala6Ser)	LOC130005685, NUP160 (A6S)	Single nucleotide variant (missense variant)	NUP160-related condition +1 more	GLikely benign
Select item 2434466	NM_015231.3(NUP160):c.2732G>A (p.Arg911His)	NUP160 (R911H)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 19	GUncertain significance
Select item 2293309	NM_015231.2(NUP160):c.11T>G (p.Leu4Arg)	LOC130005685, NUP160 (L4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236668	NM_015231.2(NUP160):c.64T>G (p.Cys22Gly)	LOC130005685, NUP160 (C22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2155805	NM_015231.3(NUP160):c.-17_-1dup (p.Met1fs)	LOC130005685, NUP160 (M1fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1972252	NM_015231.3(NUP160):c.8C>T (p.Ala3Val)	LOC130005685, NUP160 (A37V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1604868	NM_015231.3(NUP160):c.16G>A (p.Ala6Thr)	LOC130005685, NUP160 (A40T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1599947	NM_015231.3(NUP160):c.16G>T (p.Ala6Ser)	LOC130005685, NUP160 (A40S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1442242	NM_015231.3(NUP160):c.-6G>A	LOC130005685, NUP160 (G33R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1252069	NM_015231.3(NUP160):c.1077+5G>A	NUP160	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 19	GPathogenic