"Invitae"[submitter] AND "NUP62"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2070957	NM_016553.5(NUP62):c.1547G>C (p.Ser516Thr)	NUP62, IL4I1 (S516T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906312	NM_016553.5(NUP62):c.1544G>A (p.Arg515His)	IL4I1, NUP62 (R515H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1435101	NM_016553.5(NUP62):c.1525C>T (p.Arg509Trp)	IL4I1, NUP62 (R509W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719935	NM_016553.5(NUP62):c.1518C>T (p.Cys506=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 730074	NM_016553.5(NUP62):c.1483C>T (p.Leu495=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 721062	NM_016553.5(NUP62):c.1482G>C (p.Leu494=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1358508	NM_016553.5(NUP62):c.1436A>G (p.Asn479Ser)	IL4I1, NUP62 (N479S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023998	NM_016553.5(NUP62):c.1404dup (p.Asp469Ter)	IL4I1, NUP62 (D469*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 1562818	NM_016553.5(NUP62):c.1395C>T (p.Ala465=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071546	NM_016553.5(NUP62):c.1388C>T (p.Ala463Val)	IL4I1, NUP62 (A463V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994345	NM_016553.5(NUP62):c.1387G>A (p.Ala463Thr)	IL4I1, NUP62 (A463T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 718364	NM_016553.5(NUP62):c.1383C>T (p.Ser461=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1386549	NM_016553.5(NUP62):c.1366G>A (p.Glu456Lys)	IL4I1, NUP62 (E456K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1374884	NM_016553.5(NUP62):c.1357G>A (p.Asp453Asn)	NUP62, IL4I1 (D453N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 727035	NM_016553.5(NUP62):c.1338C>T (p.Arg446=)	NUP62, IL4I1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 129846	NM_016553.5(NUP62):c.1323T>C (p.Asp441=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2175297	NM_016553.5(NUP62):c.1321G>A (p.Asp441Asn)	IL4I1, NUP62 (D441N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181920	NM_016553.5(NUP62):c.1288C>T (p.Arg430Cys)	IL4I1, NUP62 (R430C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1515150	NM_016553.5(NUP62):c.1279G>A (p.Asp427Asn)	IL4I1, NUP62 (D427N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888565	NM_016553.5(NUP62):c.1254C>T (p.Ser418=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712156	NM_016553.5(NUP62):c.1235A>G (p.Glu412Gly)	IL4I1, NUP62 (E412G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841176	NM_016553.5(NUP62):c.1232A>G (p.Glu411Gly)	IL4I1, NUP62 (E411G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 739478	NM_016553.5(NUP62):c.1209G>A (p.Leu403=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943158	NM_016553.5(NUP62):c.1176G>C (p.Glu392Asp)	IL4I1, NUP62 (E392D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065867	NM_016553.5(NUP62):c.1170C>T (p.Asp390=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1575813	NM_016553.5(NUP62):c.1134G>A (p.Glu378=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418597	NM_016553.5(NUP62):c.1132G>A (p.Glu378Lys)	IL4I1, NUP62 (E378K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892282	NM_016553.5(NUP62):c.1130G>A (p.Arg377His)	IL4I1, NUP62 (R377H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1378602	NM_016553.5(NUP62):c.1098C>G (p.Ile366Met)	IL4I1, NUP62 (I366M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419335	NM_016553.5(NUP62):c.1089C>T (p.Arg363=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1480787	NM_016553.5(NUP62):c.1088G>A (p.Arg363His)	IL4I1, NUP62 (R363H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790709	NM_016553.5(NUP62):c.1077C>T (p.Asn359=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1346784	NM_016553.5(NUP62):c.1045C>T (p.Arg349Trp)	IL4I1, NUP62 (R349W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897345	NM_016553.5(NUP62):c.1029G>A (p.Glu343=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1946587	NM_016553.5(NUP62):c.993G>A (p.Ala331=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1435922	NM_016553.5(NUP62):c.991G>A (p.Ala331Thr)	IL4I1, NUP62 (A331T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 732310	NM_016553.5(NUP62):c.990C>T (p.Tyr330=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1984767	NM_016553.5(NUP62):c.965C>T (p.Ala322Val)	IL4I1, NUP62 (A322V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2139891	NM_016553.5(NUP62):c.952G>A (p.Ala318Thr)	IL4I1, NUP62 (A318T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008052	NM_016553.5(NUP62):c.939A>T (p.Pro313=)	NUP62, IL4I1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1381767	NM_016553.5(NUP62):c.935C>T (p.Ala312Val)	IL4I1, NUP62 (A312V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2420537	NM_016553.5(NUP62):c.933C>T (p.Thr311=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1582500	NM_016553.5(NUP62):c.927C>T (p.Ala309=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919495	NM_016553.5(NUP62):c.901G>A (p.Gly301Arg)	IL4I1, NUP62 (G301R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 756934	NM_016553.5(NUP62):c.900C>T (p.Ala300=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734246	NM_016553.5(NUP62):c.894G>A (p.Ala298=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059924	NM_016553.5(NUP62):c.893C>T (p.Ala298Val)	IL4I1, NUP62 (A298V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1927771	NM_016553.5(NUP62):c.889C>T (p.Leu297=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1566591	NM_016553.5(NUP62):c.864C>T (p.Thr288=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708003	NM_016553.5(NUP62):c.848GCA[5] (p.Ser286_Thr287insSer)	IL4I1, NUP62	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1942351	NM_016553.5(NUP62):c.858C>T (p.Ser286=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930728	NM_016553.5(NUP62):c.851CCA[3] (p.Ser283_Ser284insThrThrThr)	IL4I1, NUP62	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 129849	NM_016553.5(NUP62):c.848G>C (p.Ser283Thr)	IL4I1, NUP62 (S283T)	Single nucleotide variant (missense variant +1 more)	NUP62-related condition +2 more	GBenign
Select item 1912394	NM_016553.5(NUP62):c.836CCA[3] (p.Thr282del)	IL4I1, NUP62 (T282del)	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 1403233	NM_016553.5(NUP62):c.836CCA[2] (p.Thr281_Thr282del)	IL4I1, NUP62	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1376174	NM_016553.5(NUP62):c.842C>G (p.Thr281Ser)	NUP62, IL4I1 (T281S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1525726	NM_016553.5(NUP62):c.841A>G (p.Thr281Ala)	IL4I1, NUP62 (T281A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1437654	NM_016553.5(NUP62):c.823GCCACC[4] (p.Thr280_Thr281insAlaThr)	IL4I1, NUP62	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2172876	NM_016553.5(NUP62):c.823GCCACC[1] (p.275AT[1])	IL4I1, NUP62	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1347814	NM_016553.5(NUP62):c.823GCCACC[2] (p.275AT[2])	NUP62, IL4I1	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2050471	NM_016553.5(NUP62):c.838A>C (p.Thr280Pro)	IL4I1, NUP62 (T280P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 728901	NM_016553.5(NUP62):c.835G>A (p.Ala279Thr)	IL4I1, NUP62 (A279T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2797835	NM_016553.5(NUP62):c.832A>G (p.Thr278Ala)	IL4I1, NUP62 (T278A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1510962	NM_016553.5(NUP62):c.822_830del (p.Ala275_Ala277del)	IL4I1, NUP62	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1601465	NM_016553.5(NUP62):c.828C>T (p.Thr276=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1591960	NM_016553.5(NUP62):c.828C>G (p.Thr276=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795028	NM_016553.5(NUP62):c.827C>T (p.Thr276Ile)	IL4I1, NUP62 (T276I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947335	NM_016553.5(NUP62):c.813_821del (p.Ser272_Ala274del)	IL4I1, NUP62	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2040770	NM_016553.5(NUP62):c.820G>A (p.Ala274Thr)	IL4I1, NUP62 (A274T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1933380	NM_016553.5(NUP62):c.819C>T (p.Thr273=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924939	NM_016553.5(NUP62):c.814T>C (p.Ser272Pro)	IL4I1, NUP62 (S272P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2195180	NM_016553.5(NUP62):c.802_804del (p.Ser268del)	IL4I1, NUP62 (S268del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 928829	NM_016553.5(NUP62):c.796G>A (p.Gly266Ser)	NUP62, IL4I1 (G266S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 750243	NM_016553.5(NUP62):c.795C>T (p.Ser265=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179438	NM_016553.5(NUP62):c.778G>T (p.Ala260Ser)	IL4I1, NUP62 (A260S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934116	NM_016553.5(NUP62):c.778G>A (p.Ala260Thr)	IL4I1, NUP62 (A260T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2974959	NM_016553.5(NUP62):c.770G>T (p.Ser257Ile)	IL4I1, NUP62 (S257I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782225	NM_016553.5(NUP62):c.765C>T (p.Gly255=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2120502	NM_016553.5(NUP62):c.757A>T (p.Thr253Ser)	IL4I1, NUP62 (T253S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1673001	NM_016553.5(NUP62):c.756G>C (p.Gly252=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related condition +1 more	GBenign
Select item 1914469	NM_016553.5(NUP62):c.749C>A (p.Thr250Asn)	IL4I1, NUP62 (T250N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2175165	NM_016553.5(NUP62):c.738G>A (p.Ala246=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2057058	NM_016553.5(NUP62):c.737C>T (p.Ala246Val)	IL4I1, NUP62 (A246V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097929	NM_016553.5(NUP62):c.731C>A (p.Thr244Asn)	IL4I1, NUP62 (T244N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2464864	NM_016553.5(NUP62):c.704C>G (p.Thr235Ser)	IL4I1, NUP62 (T235S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1031240	NM_016553.5(NUP62):c.700A>G (p.Thr234Ala)	IL4I1, NUP62 (T234A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2174490	NM_016553.5(NUP62):c.673A>G (p.Ile225Val)	NUP62, IL4I1 (I225V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431653	NM_016553.5(NUP62):c.665T>C (p.Phe222Ser)	IL4I1, NUP62 (F222S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1593202	NM_016553.5(NUP62):c.663C>T (p.Leu221=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 713586	NM_016553.5(NUP62):c.663C>G (p.Leu221=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405511	NM_016553.5(NUP62):c.661C>T (p.Leu221Phe)	NUP62, IL4I1 (L221F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117677	NM_016553.5(NUP62):c.654G>A (p.Gly218=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 129848	NM_016553.5(NUP62):c.648C>T (p.Ser216=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1581827	NM_016553.5(NUP62):c.642C>A (p.Ile214=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1351479	NM_016553.5(NUP62):c.626C>T (p.Thr209Ile)	IL4I1, NUP62 (T209I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1401890	NM_016553.5(NUP62):c.622C>G (p.Pro208Ala)	IL4I1, NUP62 (P208A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1489317	NM_016553.5(NUP62):c.595A>G (p.Thr199Ala)	NUP62, IL4I1 (T199A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 727480	NM_016553.5(NUP62):c.582G>A (p.Thr194=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1368455	NM_016553.5(NUP62):c.581C>T (p.Thr194Met)	NUP62, IL4I1 (T194M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2040771	NM_016553.5(NUP62):c.575C>T (p.Pro192Leu)	IL4I1, NUP62 (P192L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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