ClinVar for Gene (Select 9631) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203005	NM_153485.3(NUP155):c.958C>G (p.Gln320Glu)	NUP155 (Q261E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203004	NM_153485.3(NUP155):c.4126A>G (p.Ile1376Val)	NUP155 (I1317V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203003	NM_153485.3(NUP155):c.4046T>G (p.Phe1349Cys)	NUP155 (F1290C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203002	NM_153485.3(NUP155):c.3918G>C (p.Leu1306Phe)	NUP155 (L1247F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203001	NM_153485.3(NUP155):c.3802G>A (p.Val1268Ile)	NUP155 (V1209I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203000	NM_153485.3(NUP155):c.3778C>T (p.Arg1260Cys)	NUP155 (R1196C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202999	NM_153485.3(NUP155):c.3617T>G (p.Ile1206Ser)	NUP155 (I1206S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202998	NM_153485.3(NUP155):c.3458T>C (p.Ile1153Thr)	NUP155 (I1153T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202996	NM_153485.3(NUP155):c.3248G>A (p.Arg1083Gln)	NUP155 (R1019Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202995	NM_153485.3(NUP155):c.2348A>C (p.Gln783Pro)	NUP155 (Q724P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202994	NM_153485.3(NUP155):c.1877G>T (p.Gly626Val)	NUP155 (G567V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202993	NM_153485.3(NUP155):c.1626T>G (p.His542Gln)	NUP155 (H483Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202992	NM_153485.3(NUP155):c.1624C>T (p.His542Tyr)	NUP155 (H483Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202991	NM_153485.3(NUP155):c.1481T>C (p.Met494Thr)	NUP155 (M435T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202990	NM_153485.3(NUP155):c.1439A>G (p.His480Arg)	NUP155 (H421R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062871	GRCh37/hg19 5p13.2(chr5:37027159-37673405)x3	CPLANE1, NIPBL +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062828	GRCh37/hg19 5p13.2(chr5:37156374-37603305)x3	CPLANE1, NUP155 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062816	GRCh37/hg19 5p13.2(chr5:37244668-37316387)x3	CPLANE1, NUP155	Copy number gain	not specified	GUncertain significance
Select item 3059048	NM_153485.3(NUP155):c.4060C>T (p.Leu1354=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign
Select item 3058518	NM_153485.3(NUP155):c.3138C>T (p.Val1046=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign
Select item 3047258	NM_153485.3(NUP155):c.2768-5A>G	NUP155	Single nucleotide variant (intron variant)	NUP155-related disorder	GLikely benign
Select item 3041295	NM_153485.3(NUP155):c.2357G>A (p.Arg786Gln)	NUP155 (R727Q +1 more)	Single nucleotide variant (missense variant)	NUP155-related disorder	GLikely benign
Select item 3035737	NM_153485.3(NUP155):c.3768T>C (p.Ala1256=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign
Select item 3035447	NM_153485.3(NUP155):c.1569A>G (p.Leu523=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder	GLikely benign
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2623325	NM_153485.3(NUP155):c.4031G>A (p.Cys1344Tyr)	NUP155 (C1280Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616624	NM_153485.3(NUP155):c.1343C>T (p.Thr448Ile)	NUP155 (T389I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615073	NM_153485.3(NUP155):c.1081G>A (p.Val361Ile)	NUP155 (V361I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614216	NM_153485.3(NUP155):c.2576T>C (p.Leu859Ser)	NUP155 (L859S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613840	NM_153485.3(NUP155):c.3707G>A (p.Ser1236Asn)	NUP155 (S1172N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607633	NM_153485.3(NUP155):c.3641C>T (p.Pro1214Leu)	NUP155 (P1155L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597152	NM_153485.3(NUP155):c.2015G>A (p.Arg672Gln)	NUP155 (R613Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594030	NM_153485.3(NUP155):c.2521C>T (p.Leu841Phe)	NUP155 (L841F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551125	NM_153485.3(NUP155):c.2278C>G (p.Gln760Glu)	NUP155 (Q760E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548130	NM_153485.3(NUP155):c.3130A>T (p.Ile1044Leu)	NUP155 (I985L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524370	NM_153485.3(NUP155):c.1888C>T (p.Pro630Ser)	NUP155 (P571S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518206	NM_153485.3(NUP155):c.3175T>C (p.Phe1059Leu)	NUP155 (F1000L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512183	NM_153485.3(NUP155):c.592A>G (p.Met198Val)	NUP155 (M198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508998	NM_153485.3(NUP155):c.169G>A (p.Val57Ile)	NUP155 (V57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488383	NM_153485.3(NUP155):c.1769C>T (p.Pro590Leu)	NUP155 (P531L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472868	NM_153485.3(NUP155):c.3865A>G (p.Met1289Val)	NUP155 (M1289V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454507	NM_153485.3(NUP155):c.1006C>G (p.Arg336Gly)	NUP155 (R336G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426795	NC_000005.9:g.(?_36953718)_(37324229_?)dup	CPLANE1, NIPBL +1 more	Duplication	not provided	GUncertain significance
Select item 2426792	NC_000005.9:g.(?_37244457)_(37371079_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 2426791	NC_000005.9:g.(?_37138802)_(37371079_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 2426790	NC_000005.9:g.(?_37184870)_(37371079_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 2426789	NC_000005.9:g.(?_37224614)_(37371079_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 2426787	NC_000005.9:g.(?_36953718)_(37371079_?)del	CPLANE1, NIPBL +1 more	Deletion	not provided	GPathogenic
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 2406073	NM_153485.3(NUP155):c.3227G>A (p.Arg1076His)	NUP155 (R1012H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397681	NM_153485.3(NUP155):c.2669A>G (p.Lys890Arg)	NUP155 (K826R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379508	NM_153485.3(NUP155):c.2728C>G (p.Gln910Glu)	NUP155 (Q851E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376048	NM_153485.3(NUP155):c.2177A>G (p.Gln726Arg)	NUP155 (Q667R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353665	NM_153485.3(NUP155):c.466A>G (p.Ile156Val)	NUP155 (I97V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344476	NM_153485.3(NUP155):c.2617A>G (p.Ile873Val)	NUP155 (I814V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2342822	NM_153485.3(NUP155):c.3132A>G (p.Ile1044Met)	NUP155 (I1044M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336417	NM_153485.3(NUP155):c.2905T>A (p.Leu969Ile)	NUP155 (L905I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335861	NM_153485.3(NUP155):c.1363G>A (p.Asp455Asn)	NUP155 (D455N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299623	NM_153485.3(NUP155):c.947C>G (p.Ala316Gly)	NUP155 (A257G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299441	NM_153485.3(NUP155):c.2651C>G (p.Ser884Cys)	NUP155 (S884C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298426	NM_153485.3(NUP155):c.2419G>A (p.Val807Met)	NUP155 (V748M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295976	NM_153485.3(NUP155):c.891A>C (p.Lys297Asn)	NUP155 (K238N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277007	NM_153485.3(NUP155):c.2474A>T (p.Asp825Val)	NUP155 (D766V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275324	NM_153485.3(NUP155):c.3136G>C (p.Val1046Leu)	NUP155 (V1046L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273971	NM_153485.3(NUP155):c.1157C>A (p.Thr386Lys)	NUP155 (T386K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270335	NM_153485.3(NUP155):c.2890G>T (p.Ala964Ser)	NUP155 (A964S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270096	NM_153485.3(NUP155):c.3656C>T (p.Thr1219Ile)	NUP155 (T1219I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256663	NM_153485.3(NUP155):c.2705A>C (p.Lys902Thr)	NUP155 (K838T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256227	NM_153485.3(NUP155):c.3918G>T (p.Leu1306Phe)	NUP155 (L1242F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251494	NM_153485.3(NUP155):c.3416A>G (p.Glu1139Gly)	NUP155 (E1080G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244431	NM_153485.3(NUP155):c.1160T>C (p.Leu387Pro)	NUP155 (L387P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1808286	GRCh37/hg19 5p13.2(chr5:37044026-37374124)x3	CPLANE1, NIPBL +1 more	Copy number gain	not provided	GUncertain significance
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527157	GRCh37/hg19 5p13.2(chr5:37237231-37690934)x3	CPLANE1, NUP155 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527156	GRCh37/hg19 5p13.2(chr5:37196741-37592604)	CPLANE1, NUP155 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527154	GRCh37/hg19 5p13.2(chr5:36848530-37354525)	CPLANE1, NIPBL +1 more	Copy number gain	not specified	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1459695	NC_000005.9:g.(?_36970958)_(37371079_?)del	CPLANE1, NIPBL +1 more	Deletion	Cornelia de Lange syndrome 1	GPathogenic
Select item 1444991	NC_000005.9:g.(?_37157752)_(37371079_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 1444989	NC_000005.9:g.(?_37120298)_(37371079_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 1444988	NC_000005.9:g.(?_37243095)_(37371079_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 1441353	NC_000005.9:g.(?_37238939)_(37314450_?)dup	CPLANE1, NUP155	Duplication	not provided	GUncertain significance
Select item 1340212	GRCh37/hg19 5p13.2(chr5:37044025-37300606)x3	CPLANE1, NIPBL +1 more	Copy number gain	not provided	GUncertain significance
Select item 1294912	NM_153485.3(NUP155):c.2903+84dup	NUP155	Duplication (intron variant)	not provided	GBenign
Select item 1294896	NM_153485.3(NUP155):c.3888A>G (p.Leu1296=)	NUP155	Single nucleotide variant (synonymous variant)	NUP155-related disorder +1 more	GBenign
Select item 1294895	NM_153485.3(NUP155):c.3561+87A>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290619	NM_153485.3(NUP155):c.4038-99C>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289941	NM_153485.3(NUP155):c.996-54del	NUP155	Deletion (intron variant)	not provided	GBenign
Select item 1288718	NM_153485.3(NUP155):c.2208-108C>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288447	NM_153485.3(NUP155):c.1094-159C>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288022	NM_153485.3(NUP155):c.1356T>C (p.Ala452=)	NUP155	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1287261	NM_153485.3(NUP155):c.2091+63A>G	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286819	NM_153485.3(NUP155):c.1094-8A>G	NUP155	Single nucleotide variant (intron variant)	NUP155-related disorder +1 more	GBenign
Select item 1283299	NM_153485.3(NUP155):c.1519-88C>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282920	NM_153485.3(NUP155):c.2092-116G>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282116	NM_153485.3(NUP155):c.1519-140G>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280109	NM_153485.3(NUP155):c.903+101dup	NUP155	Duplication (intron variant)	not provided	GBenign
Select item 1279588	NM_153485.3(NUP155):c.556+10C>T	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278663	NM_153485.3(NUP155):c.1094-158G>A	NUP155	Single nucleotide variant (intron variant)	not provided	GBenign

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