ClinVar for Gene (Select 9688) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301606	NM_014669.5(NUP93):c.797A>G (p.Tyr266Cys)	NUP93 (Y143C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301605	NM_014669.5(NUP93):c.2392A>C (p.Met798Leu)	NUP93 (M675L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301604	NM_014669.5(NUP93):c.1031A>G (p.Gln344Arg)	NUP93 (Q221R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301603	NM_014669.5(NUP93):c.2178T>A (p.Ser726Arg)	NUP93 (S603R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301602	NM_014669.5(NUP93):c.294T>G (p.Ile98Met)	NUP93 (I98M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301601	NM_014669.5(NUP93):c.1424C>G (p.Ala475Gly)	NUP93 (A352G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301600	NM_014669.5(NUP93):c.199C>T (p.Arg67Trp)	NUP93 (R67W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301599	NM_014669.5(NUP93):c.1733G>T (p.Arg578Leu)	NUP93 (R455L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301598	NM_014669.5(NUP93):c.749T>C (p.Val250Ala)	NUP93 (V127A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301596	NM_014669.5(NUP93):c.250G>A (p.Ala84Thr)	NUP93 (A84T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
Select item 3235149	NM_014669.5(NUP93):c.927+1G>A	NUP93	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 12	GPathogenic
Select item 3234194	NM_014669.5(NUP93):c.1968G>A (p.Pro656=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234055	NM_014669.5(NUP93):c.2065T>A (p.Phe689Ile)	NUP93 (F566I +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 3203280	NM_014669.5(NUP93):c.700T>G (p.Leu234Val)	NUP93 (L234V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203279	NM_014669.5(NUP93):c.622C>A (p.Leu208Ile)	NUP93 (L208I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203278	NM_014669.5(NUP93):c.545A>C (p.Glu182Ala)	NUP93 (E59A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203277	NM_014669.5(NUP93):c.2428A>T (p.Arg810Trp)	NUP93 (R687W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203276	NM_014669.5(NUP93):c.2426C>T (p.Ala809Val)	NUP93 (A686V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203275	NM_014669.5(NUP93):c.2344G>A (p.Asp782Asn)	NUP93 (D782N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203274	NM_014669.5(NUP93):c.2280T>G (p.Phe760Leu)	NUP93 (F760L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203273	NM_014669.5(NUP93):c.2019G>A (p.Arg673=)	NUP93	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3203272	NM_014669.5(NUP93):c.1967C>T (p.Pro656Leu)	NUP93 (P533L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203271	NM_014669.5(NUP93):c.1769A>G (p.Asp590Gly)	NUP93 (D590G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203270	NM_014669.5(NUP93):c.1702C>T (p.Arg568Cys)	NUP93 (R445C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203268	NM_014669.5(NUP93):c.164C>T (p.Thr55Met)	NUP93 (T55M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203267	NM_014669.5(NUP93):c.130C>T (p.Arg44Cys)	NUP93 (R44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203266	NM_014669.5(NUP93):c.1145A>G (p.Asn382Ser)	NUP93 (N259S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062103	NM_014669.5(NUP93):c.1733G>C (p.Arg578Pro)	NUP93 (R455P +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GLikely pathogenic
Select item 3061388	NM_014669.5(NUP93):c.2320C>G (p.Pro774Ala)	NUP93 (P651A +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GUncertain significance
Select item 3058579	NM_014669.5(NUP93):c.633C>T (p.Ser211=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3055539	NM_014669.5(NUP93):c.1346-25TCTCC[2]	NUP93	Microsatellite (intron variant)	NUP93-related disorder	GLikely benign
Select item 3055178	NM_014669.5(NUP93):c.927+10A>G	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 3053725	NM_014669.5(NUP93):c.960G>A (p.Ala320=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3049836	NM_014669.5(NUP93):c.1200C>T (p.Thr400=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3036740	NM_014669.5(NUP93):c.490-3C>T	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 3036394	NM_014669.5(NUP93):c.1275C>T (p.Asp425=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3035470	NM_014669.5(NUP93):c.1000G>A (p.Ala334Thr)	NUP93 (A211T +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GLikely benign
Select item 3031351	NM_014669.5(NUP93):c.1899+5A>C	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 3030330	NM_014669.5(NUP93):c.1346-25TCTCC[4]	NUP93	Microsatellite (intron variant)	NUP93-related disorder	GLikely benign
Select item 3029791	NM_014669.5(NUP93):c.1738-4A>G	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 3029163	NM_014669.5(NUP93):c.1194C>T (p.Asp398=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3028930	NM_014669.5(NUP93):c.1167C>G (p.Ala389=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3023299	NM_014669.5(NUP93):c.1126C>T (p.Arg376Cys)	NUP93 (R376C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3021791	NM_014669.5(NUP93):c.1263G>T (p.Val421=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019507	NM_014669.5(NUP93):c.714A>G (p.Ala238=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014483	NM_014669.5(NUP93):c.1347C>T (p.Gly449=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979624	NM_014669.5(NUP93):c.1770C>T (p.Asp590=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976638	NM_014669.5(NUP93):c.1488G>C (p.Leu496=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971224	NM_014669.5(NUP93):c.1664+18C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966135	NM_014669.5(NUP93):c.1142A>G (p.Asn381Ser)	NUP93 (N258S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965727	NM_014669.5(NUP93):c.2019-15G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959179	NM_014669.5(NUP93):c.360+20T>G	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897899	NM_014669.5(NUP93):c.1644C>T (p.Leu548=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895718	NM_014669.5(NUP93):c.2280T>C (p.Phe760=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder +1 more	GLikely benign
Select item 2894356	NM_014669.5(NUP93):c.2427G>A (p.Ala809=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889087	NM_014669.5(NUP93):c.306G>A (p.Leu102=)	NUP93	Single nucleotide variant (5 prime UTR variant +1 more)	NUP93-related disorder +1 more	GBenign/Likely benign
Select item 2884469	NM_014669.5(NUP93):c.1905T>G (p.Ala635=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2866248	NM_014669.5(NUP93):c.1707T>C (p.Cys569=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743562	NM_014669.5(NUP93):c.1782+1G>C	NUP93	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2720815	NM_014669.5(NUP93):c.1538-10C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710773	NM_014669.5(NUP93):c.874T>C (p.Leu292=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708504	NM_014669.5(NUP93):c.1221G>A (p.Ala407=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder +1 more	GLikely benign
Select item 2699008	NM_014669.5(NUP93):c.453A>G (p.Ser151=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681757	NM_014669.5(NUP93):c.1899G>A (p.Lys633=)	NUP93	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 2681755	NM_014669.5(NUP93):c.1573C>T (p.Arg525Trp)	NUP93 (R402W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 2646549	NM_014669.5(NUP93):c.744G>T (p.Val248=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636151	NM_014669.5(NUP93):c.660T>G (p.Ile220Met)	NUP93 (I220M +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GUncertain significance
Select item 2635055	NM_014669.5(NUP93):c.2190_2191del (p.Arg730fs)	NUP93 (R607fs +1 more)	Microsatellite (frameshift variant)	NUP93-related disorder	GLikely pathogenic
Select item 2634422	NM_014669.5(NUP93):c.1343A>G (p.Tyr448Cys)	NUP93 (Y325C +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GUncertain significance
Select item 2607710	NM_014669.5(NUP93):c.1364T>G (p.Val455Gly)	NUP93 (V332G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606670	NM_014669.5(NUP93):c.524G>A (p.Arg175Gln)	NUP93 (R175Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593436	NM_014669.5(NUP93):c.463G>A (p.Ala155Thr)	NUP93 (A155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585173	NM_014669.5(NUP93):c.2141T>C (p.Ile714Thr)	NUP93 (I591T +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 2579691	NM_014669.5(NUP93):c.-14-1G>A	NUP93	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome, type 12	GLikely pathogenic
Select item 2526484	NM_014669.5(NUP93):c.2258T>A (p.Met753Lys)	NUP93 (M753K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523643	NM_014669.5(NUP93):c.595G>A (p.Gly199Arg)	NUP93 (G199R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478970	NM_014669.5(NUP93):c.1684G>A (p.Gly562Arg)	NUP93 (G562R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477132	NM_014669.5(NUP93):c.2053G>A (p.Val685Met)	NUP93 (V562M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456572	NM_014669.5(NUP93):c.724C>G (p.Leu242Val)	NUP93 (L242V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444723	NM_014669.5(NUP93):c.2150T>C (p.Leu717Ser)	NUP93 (L594S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442155	NM_014669.5(NUP93):c.1574G>A (p.Arg525Gln)	NUP93 (R402Q +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 2397045	NM_014669.5(NUP93):c.664G>A (p.Asp222Asn)	NUP93 (D222N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353558	NM_014669.5(NUP93):c.1610G>A (p.Arg537Gln)	NUP93 (R414Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351998	NM_014669.5(NUP93):c.2371A>G (p.Thr791Ala)	NUP93 (T668A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343485	NM_014669.5(NUP93):c.2248C>G (p.Leu750Val)	NUP93 (L627V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297478	NM_014669.5(NUP93):c.325G>A (p.Ala109Thr)	NUP93 (A109T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286341	NM_014669.5(NUP93):c.281A>G (p.Lys94Arg)	NUP93 (K94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283775	NM_014669.5(NUP93):c.715A>G (p.Thr239Ala)	NUP93 (T239A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280384	NM_014669.5(NUP93):c.367G>A (p.Gly123Ser)	NUP93 (G123S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277610	NM_014669.5(NUP93):c.1166C>T (p.Ala389Val)	NUP93 (A389V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263152	NM_014669.5(NUP93):c.2228A>G (p.His743Arg)	NUP93 (H620R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258826	NM_014669.5(NUP93):c.1588C>T (p.Arg530Trp)	NUP93 (R407W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253939	NM_014669.5(NUP93):c.136C>T (p.Arg46Cys)	NUP93 (R46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237823	NM_014669.5(NUP93):c.1074C>A (p.Ser358Arg)	NUP93 (S235R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219941	NM_014669.5(NUP93):c.554A>G (p.Tyr185Cys)	NUP93 (Y62C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217426	NM_014669.5(NUP93):c.1220C>T (p.Ala407Val)	NUP93 (A407V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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