8021[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 741432	NM_005085.4(NUP214):c.46-5A>G	NUP214	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3203174	NM_005085.4(NUP214):c.62C>T (p.Ala21Val)	NUP214 (A58V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738108	NM_005085.4(NUP214):c.63G>A (p.Ala21=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 545116	NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)	NUP214 (R38C)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GPathogenic/Likely pathogenic
Select item 1028855	NM_005085.4(NUP214):c.116C>T (p.Ser39Leu)	NUP214 (S39L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 2245511	NM_005085.4(NUP214):c.133T>A (p.Ser45Thr)	NUP214 (S45T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203140	NM_005085.4(NUP214):c.140A>G (p.Lys47Arg)	NUP214 (K47R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580563	NM_005085.4(NUP214):c.169A>C (p.Ser57Arg)	NUP214 (S57R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1332862	NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del)	NUP214 (L68del)	Microsatellite (inframe_deletion)	Acute myeloid leukemia	GUncertain significance
Select item 2408340	NM_005085.4(NUP214):c.205A>C (p.Ile69Leu)	NUP214 (I106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752244	NM_005085.4(NUP214):c.219C>T (p.Pro73=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025955	NM_005085.4(NUP214):c.268C>G (p.Pro90Ala)	NUP214 (P127A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2369515	NM_005085.4(NUP214):c.271A>G (p.Met91Val)	NUP214 (M128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704815	NM_005085.4(NUP214):c.286C>T (p.His96Tyr)	NUP214 (H133Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417196	NM_005085.4(NUP214):c.302G>C (p.Ser101Thr)	NUP214 (S101T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1318753	NM_005085.4(NUP214):c.319C>T (p.Leu107Phe)	NUP214 (L107F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789780	NM_005085.4(NUP214):c.326C>T (p.Ala109Val)	NUP214 (A109V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2607240	NM_005085.4(NUP214):c.331A>G (p.Met111Val)	NUP214 (M148V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203156	NM_005085.4(NUP214):c.341G>T (p.Ser114Ile)	NUP214 (S151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441819	NM_005085.4(NUP214):c.417T>G (p.Phe139Leu)	NUP214 (F139L +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 634922	NM_005085.4(NUP214):c.461A>G (p.Asp154Gly)	NUP214 (D154G)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 2298067	NM_005085.4(NUP214):c.464T>C (p.Met155Thr)	NUP214 (M155T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203164	NM_005085.4(NUP214):c.478A>G (p.Thr160Ala)	NUP214 (T160A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746118	NM_005085.4(NUP214):c.540G>A (p.Thr180=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554447	NM_005085.4(NUP214):c.562A>G (p.Thr188Ala)	NUP214 (T188A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518565	NM_005085.4(NUP214):c.569C>T (p.Pro190Leu)	NUP214 (P190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065516	NM_005085.4(NUP214):c.655T>G (p.Tyr219Asp)	NUP214 (Y219D +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 2446105	NM_005085.4(NUP214):c.683T>C (p.Val228Ala)	NUP214 (V228A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049640	NM_005085.4(NUP214):c.688C>T (p.Pro230Ser)	NUP214 (P230S +1 more)	Single nucleotide variant (missense variant)	NUP214-related disorder	GUncertain significance
Select item 2535309	NM_005085.4(NUP214):c.763G>A (p.Ala255Thr)	NUP214 (A292T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455728	NM_005085.4(NUP214):c.928A>G (p.Ile310Val)	NUP214 (I347V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2500761	NM_005085.4(NUP214):c.929T>C (p.Ile310Thr)	NUP214 (I310T +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 1026498	NM_005085.4(NUP214):c.1003C>A (p.Gln335Lys)	NUP214 (Q335K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057063	NM_005085.4(NUP214):c.1006-4_1006-3dup	NUP214	Duplication (intron variant)	NUP214-related disorder	GLikely benign
Select item 2362056	NM_005085.4(NUP214):c.1006A>T (p.Ile336Phe)	NUP214 (I336F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203136	NM_005085.4(NUP214):c.1028T>C (p.Leu343Pro)	NUP214 (L380P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571864	NM_005085.4(NUP214):c.1102G>A (p.Asp368Asn)	NUP214 (D368N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708051	NM_005085.4(NUP214):c.1129A>G (p.Ile377Val)	NUP214 (I377V +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 3203137	NM_005085.4(NUP214):c.1135G>A (p.Asp379Asn)	NUP214 (D379N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 634924	NM_005085.4(NUP214):c.1159C>T (p.Pro387Ser)	NUP214 (P387S)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	Grisk factor
Select item 3203138	NM_005085.4(NUP214):c.1364C>G (p.Pro455Arg)	NUP214 (P455R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048608	NM_005085.4(NUP214):c.1412C>T (p.Ser471Phe)	NUP214 (S471F)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 1050200	NM_005085.4(NUP214):c.1435C>T (p.Pro479Ser)	NUP214 (P479S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2308354	NM_005085.4(NUP214):c.1481C>A (p.Thr494Lys)	NUP214 (T531K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203141	NM_005085.4(NUP214):c.1495C>A (p.Pro499Thr)	NUP214 (P536T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749573	NM_005085.4(NUP214):c.1527C>T (p.Ser509=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699770	NM_005085.4(NUP214):c.1547G>A (p.Gly516Asp)	NUP214 (G516D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2225614	NM_005085.4(NUP214):c.1549C>T (p.Pro517Ser)	NUP214 (P554S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 634925	NM_005085.4(NUP214):c.1574del (p.Pro525fs)	NUP214 (P525fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1699776	NM_005085.4(NUP214):c.1585T>C (p.Ser529Pro)	NUP214 (S529P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580727	NM_005085.4(NUP214):c.1589T>C (p.Leu530Pro)	NUP214 (L530P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3048332	NM_005085.4(NUP214):c.1595C>T (p.Pro532Leu)	NUP214 (P532L +1 more)	Single nucleotide variant (missense variant)	NUP214-related disorder	GLikely benign
Select item 3203142	NM_005085.4(NUP214):c.1607C>T (p.Ala536Val)	NUP214 (A536V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773785	NM_005085.4(NUP214):c.1608G>A (p.Ala536=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3203143	NM_005085.4(NUP214):c.1673A>G (p.Glu558Gly)	NUP214 (E558G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203144	NM_005085.4(NUP214):c.1676G>A (p.Ser559Asn)	NUP214 (S559N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273040	NM_005085.4(NUP214):c.1720C>T (p.Pro574Ser)	NUP214 (P574S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2362535	NM_005085.4(NUP214):c.1757A>C (p.Asn586Thr)	NUP214 (N586T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548459	NM_005085.4(NUP214):c.1784C>A (p.Ala595Asp)	NUP214 (A595D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040313	NM_005085.4(NUP214):c.1830G>A (p.Ser610=)	NUP214	Single nucleotide variant (synonymous variant)	NUP214-related disorder	GLikely benign
Select item 2290738	NM_005085.4(NUP214):c.1846T>C (p.Ser616Pro)	NUP214 (S605P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060779	NM_005085.4(NUP214):c.1884A>G (p.Thr628=)	NUP214	Single nucleotide variant (synonymous variant)	NUP214-related disorder	GBenign
Select item 2580735	NM_005085.4(NUP214):c.1909G>A (p.Val637Met)	NUP214 (V626M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320957	NM_005085.4(NUP214):c.1958A>G (p.Gln653Arg)	NUP214 (Q643R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365923	NM_005085.4(NUP214):c.2008A>G (p.Thr670Ala)	NUP214 (T696A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738071	NM_005085.4(NUP214):c.2019G>A (p.Ala673=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490968	NM_005085.4(NUP214):c.2141A>G (p.Gln714Arg)	NUP214 (Q704R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463053	NM_005085.4(NUP214):c.2168G>A (p.Arg723Gln)	NUP214 (R749Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203145	NM_005085.4(NUP214):c.2198C>G (p.Thr733Ser)	NUP214 (T759S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725860	NM_005085.4(NUP214):c.2280G>A (p.Ser760=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787709	NM_005085.4(NUP214):c.2293A>G (p.Ile765Val)	NUP214 (I755V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2490587	NM_005085.4(NUP214):c.2294T>C (p.Ile765Thr)	NUP214 (I755T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203146	NM_005085.4(NUP214):c.2317C>T (p.Leu773Phe)	NUP214 (L773F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593696	NM_005085.4(NUP214):c.2324G>C (p.Gly775Ala)	NUP214 (G801A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719024	NM_005085.4(NUP214):c.2347A>G (p.Arg783Gly)	NUP214 (R773G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2474812	NM_005085.4(NUP214):c.2369G>A (p.Arg790His)	NUP214 (R780H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475526	NM_005085.4(NUP214):c.2414C>T (p.Pro805Leu)	NUP214 (P795L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203147	NM_005085.4(NUP214):c.2420G>C (p.Ser807Thr)	NUP214 (S797T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034125	NM_005085.4(NUP214):c.2580C>T (p.Thr860=)	NUP214	Single nucleotide variant (synonymous variant)	NUP214-related disorder	GLikely benign
Select item 2328575	NM_005085.4(NUP214):c.2585C>T (p.Ala862Val)	NUP214 (A852V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284595	NM_005085.4(NUP214):c.2626A>C (p.Asn876His)	NUP214 (N866H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779098	NM_005085.4(NUP214):c.2646T>G (p.Leu882=)	NUP214	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374453	NM_005085.4(NUP214):c.2656C>T (p.Arg886Cys)	NUP214 (R876C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218294	NM_005085.4(NUP214):c.2693C>T (p.Ser898Leu)	NUP214 (S898L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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