79902[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 157

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2286543	NM_024844.5(NUP85):c.21G>T (p.Glu7Asp)	NUP85 (E7D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1598310	NM_024844.5(NUP85):c.34-9T>C	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600474	NM_024844.5(NUP85):c.46G>A (p.Val16Met)	NUP85 (V16M)	Single nucleotide variant (missense variant +1 more)	NUP85-related disorder +1 more	GBenign
Select item 2040625	NM_024844.5(NUP85):c.56A>G (p.Lys19Arg)	NUP85 (K19R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2112463	NM_024844.5(NUP85):c.89G>C (p.Gly30Ala)	NUP85 (G30A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1048877	NM_024844.5(NUP85):c.121A>G (p.Lys41Glu)	NUP85 (K41E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1605478	NM_024844.5(NUP85):c.128-19T>C	NUP85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1952471	NM_024844.5(NUP85):c.139A>G (p.Met47Val)	NUP85 (M47V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958732	NM_024844.5(NUP85):c.140T>C (p.Met47Thr)	NUP85 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914983	NM_024844.5(NUP85):c.156C>G (p.Pro52=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474085	NM_024844.5(NUP85):c.164A>G (p.Tyr55Cys)	NUP85 (Y55C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601033	NM_024844.5(NUP85):c.172C>T (p.Arg58Cys)	NUP85 (R12C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1600649	NM_024844.5(NUP85):c.186T>C (p.Asp62=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +1 more	GBenign
Select item 2893505	NM_024844.5(NUP85):c.204G>A (p.Leu68=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167013	NM_024844.5(NUP85):c.222A>G (p.Glu74=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399570	NM_024844.5(NUP85):c.268A>G (p.Thr90Ala)	NUP85 (T90A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2785339	NM_024844.5(NUP85):c.290+11T>A	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896458	NM_024844.5(NUP85):c.290+13C>T	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752050	NM_024844.5(NUP85):c.290+15G>T	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119347	NM_024844.5(NUP85):c.309A>C (p.Lys103Asn)	NUP85 (K57N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905604	NM_024844.5(NUP85):c.361+16G>A	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955728	NM_024844.5(NUP85):c.361+17C>T	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960542	NM_024844.5(NUP85):c.361+19_361+20dup	NUP85	Duplication (intron variant)	not provided	GLikely benign
Select item 2989767	NM_024844.5(NUP85):c.361+19_361+20del	NUP85	Deletion (intron variant)	not provided	GLikely benign
Select item 2804058	NM_024844.5(NUP85):c.361+18G>C	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989712	NM_024844.5(NUP85):c.361+18G>A	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637388	NM_024844.5(NUP85):c.361+20GC[4]	NUP85	Microsatellite (intron variant)	not provided	GBenign
Select item 1446052	NM_024844.5(NUP85):c.361+24_361+25insTGCGCGCG	NUP85	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1371624	NM_024844.5(NUP85):c.361+20GC[5]	NUP85	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1464438	NM_024844.5(NUP85):c.361+20GC[2]	NUP85	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1327037	NM_024844.5(NUP85):c.361+25C>T	NUP85	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 17	GBenign
Select item 1925154	NM_024844.5(NUP85):c.370A>G (p.Lys124Glu)	NUP85 (K124E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147460	NM_024844.5(NUP85):c.376C>T (p.Pro126Ser)	NUP85 (P80S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 590317	NM_024844.5(NUP85):c.405+1G>A	NUP85	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 17	GPathogenic
Select item 1644913	NM_024844.5(NUP85):c.405+6G>T	NUP85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1573685	NM_024844.5(NUP85):c.406-20_406-14del	NUP85	Deletion (intron variant)	not provided	GLikely benign
Select item 2063140	NM_024844.5(NUP85):c.417G>A (p.Leu139=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064608	NM_024844.5(NUP85):c.424A>G (p.Met142Val)	NUP85 (M142V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2177653	NM_024844.5(NUP85):c.454C>A (p.Leu152Ile)	NUP85 (L106I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738412	NM_024844.5(NUP85):c.459T>C (p.Phe153=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945337	NM_024844.5(NUP85):c.475+6C>T	NUP85	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2077810	NM_024844.5(NUP85):c.508G>A (p.Val170Ile)	NUP85 (V170I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2052871	NM_024844.5(NUP85):c.525C>T (p.Cys175=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592587	NM_024844.5(NUP85):c.542C>T (p.Ser181Leu)	NUP85 (S181L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2920447	NM_024844.5(NUP85):c.543G>A (p.Ser181=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488359	NM_024844.5(NUP85):c.557G>C (p.Gly186Ala)	NUP85 (G186A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2955938	NM_024844.5(NUP85):c.597+13G>A	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1410769	NM_024844.5(NUP85):c.623G>A (p.Arg208Gln)	NUP85 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2970653	NM_024844.5(NUP85):c.637C>A (p.Arg213=)	NUP85	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1461054	NM_024844.5(NUP85):c.638G>A (p.Arg213Gln)	NUP85 (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903556	NM_024844.5(NUP85):c.648C>T (p.Leu216=)	NUP85	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2603153	NM_024844.5(NUP85):c.672C>T (p.Pro224=)	NUP85	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2421282	NM_024844.5(NUP85):c.673G>A (p.Ala225Thr)	NUP85 (A179T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2481720	NM_024844.5(NUP85):c.677C>G (p.Ser226Cys)	NUP85 (S226C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2782523	NM_024844.5(NUP85):c.702G>A (p.Gly234=)	NUP85	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1327039	NM_024844.5(NUP85):c.735C>T (p.Pro245=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +2 more	GBenign
Select item 1657786	NM_024844.5(NUP85):c.742A>G (p.Thr248Ala)	NUP85 (T202A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3203241	NM_024844.5(NUP85):c.745C>G (p.Gln249Glu)	NUP85 (Q249E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2420971	NM_024844.5(NUP85):c.770A>G (p.Lys257Arg)	NUP85 (K211R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188888	NM_024844.5(NUP85):c.800G>A (p.Arg267Gln)	NUP85 (R222Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082708	NM_024844.5(NUP85):c.816C>T (p.Ser272=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950011	NM_024844.5(NUP85):c.822C>T (p.Phe274=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606519	NM_024844.5(NUP85):c.823G>A (p.Ala275Thr)	NUP85 (A229T +2 more)	Single nucleotide variant (missense variant)	NUP85-related disorder +1 more	GBenign
Select item 2249403	NM_024844.5(NUP85):c.841G>C (p.Glu281Gln)	NUP85 (E236Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486429	NM_024844.5(NUP85):c.844T>A (p.Ser282Thr)	NUP85 (S236T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2041871	NM_024844.5(NUP85):c.929C>G (p.Thr310Ser)	LOC126862640, NUP85 (T264S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007116	NM_024844.5(NUP85):c.1074T>G (p.His358Gln)	LOC126862640, NUP85 (H312Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000137	NM_024844.5(NUP85):c.1094+16C>T	LOC126862640, NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180552	NM_024844.5(NUP85):c.1153A>G (p.Lys385Glu)	NUP85 (K340E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049964	NM_024844.5(NUP85):c.1178+10C>T	NUP85	Single nucleotide variant (intron variant)	NUP85-related disorder	GLikely benign
Select item 1908061	NM_024844.5(NUP85):c.1178+10C>G	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612601	NM_024844.5(NUP85):c.1178+11G>A	NUP85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2968390	NM_024844.5(NUP85):c.1179-13T>C	NUP85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2207699	NM_024844.5(NUP85):c.1223C>T (p.Ser408Leu)	NUP85 (S363L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1508772	NM_024844.5(NUP85):c.1270T>G (p.Phe424Val)	NUP85 (F424V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327236	NM_024844.5(NUP85):c.1273G>T (p.Asp425Tyr)	NUP85 (D380Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2904960	NM_024844.5(NUP85):c.1284C>T (p.Pro428=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991372	NM_024844.5(NUP85):c.1285G>A (p.Glu429Lys)	NUP85 (E429K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2073891	NM_024844.5(NUP85):c.1305G>A (p.Leu435=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2176515	NM_024844.5(NUP85):c.1339G>A (p.Glu447Lys)	NUP85 (E402K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2538615	NM_024844.5(NUP85):c.1340A>G (p.Glu447Gly)	NUP85 (E401G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409146	NM_024844.5(NUP85):c.1363C>T (p.Arg455Trp)	NUP85 (R409W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203235	NM_024844.5(NUP85):c.1364G>A (p.Arg455Gln)	NUP85 (R455Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327040	NM_024844.5(NUP85):c.1396+27T>C	NUP85	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 17	GBenign
Select item 2062928	NM_024844.5(NUP85):c.1399C>T (p.Arg467Cys)	NUP85, GGA3 (R467C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3203236	NM_024844.5(NUP85):c.1400G>C (p.Arg467Pro)	NUP85 (R422P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378810	NM_024844.5(NUP85):c.1402A>G (p.Ser468Gly)	NUP85 (S422G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2354307	NM_024844.5(NUP85):c.1420G>A (p.Ala474Thr)	NUP85 (A429T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 590315	NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)	NUP85, GGA3 (A477V +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GUncertain significance
Select item 2150443	NM_024844.5(NUP85):c.1445G>A (p.Arg482His)	NUP85 (R437H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549601	NM_024844.5(NUP85):c.1447C>G (p.Leu483Val)	NUP85 (L437V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1030881	NM_024844.5(NUP85):c.1465T>C (p.Trp489Arg)	GGA3, NUP85 (W443R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GUncertain significance
Select item 2540429	NM_024844.5(NUP85):c.1486G>A (p.Ala496Thr)	NUP85 (A450T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2857083	NM_024844.5(NUP85):c.1488C>T (p.Ala496=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +1 more	GLikely benign
Select item 2749856	NM_024844.5(NUP85):c.1500G>A (p.Thr500=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742652	NM_024844.5(NUP85):c.1503C>G (p.Leu501=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197962	NM_024844.5(NUP85):c.1503C>T (p.Leu501=)	NUP85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516723	NM_024844.5(NUP85):c.1514+4G>A	NUP85	Single nucleotide variant (intron variant)	not provided	GUncertain significance

<< First< Prev

Page of 2