4751[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 3046446	NM_001204182.2(NEK2):c.1167G>A (p.Ter389=)	NEK2	Single nucleotide variant (synonymous variant)	NEK2-related disorder	GLikely benign
Select item 1395445	NM_002497.4(NEK2):c.1332G>A (p.Met444Ile)	NEK2 (M444I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1436576	NM_002497.4(NEK2):c.1320G>C (p.Gln440His)	NEK2 (Q440H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1717349	NM_002497.4(NEK2):c.1318C>A (p.Gln440Lys)	NEK2 (Q440K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 403226	NM_002497.4(NEK2):c.1317A>G (p.Arg439=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2068681	NM_002497.4(NEK2):c.1315A>G (p.Arg439Gly)	NEK2 (R439G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1036908	NM_002497.4(NEK2):c.1307T>C (p.Leu436Pro)	NEK2 (L436P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1604943	NM_002497.4(NEK2):c.1305A>G (p.Gln435=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2839593	NM_002497.4(NEK2):c.1300T>G (p.Tyr434Asp)	NEK2 (Y434D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977633	NM_002497.4(NEK2):c.1300T>C (p.Tyr434His)	NEK2 (Y434H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1966657	NM_002497.4(NEK2):c.1276G>A (p.Ala426Thr)	NEK2 (A426T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1517094	NM_002497.4(NEK2):c.1272_1275dup (p.Ala426fs)	NEK2 (A426fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1518076	NM_002497.4(NEK2):c.1273C>T (p.Gln425Ter)	NEK2 (Q425*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3028564	NM_002497.4(NEK2):c.1270del (p.Ala424fs)	NEK2 (A424fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 2406513	NM_002497.4(NEK2):c.1270G>C (p.Ala424Pro)	NEK2 (A424P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1378965	NM_002497.4(NEK2):c.1268G>A (p.Arg423Gln)	NEK2 (R423Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1470979	NM_002497.4(NEK2):c.1267C>T (p.Arg423Trp)	NEK2 (R423W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 782234	NM_002497.4(NEK2):c.1257T>C (p.Ala419=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2976153	NM_002497.4(NEK2):c.1254C>T (p.His418=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988357	NM_002497.4(NEK2):c.1227G>A (p.Lys409=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1945208	NM_002497.4(NEK2):c.1226A>G (p.Lys409Arg)	NEK2 (K409R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973960	NM_002497.4(NEK2):c.1223C>A (p.Ser408Tyr)	NEK2 (S408Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796496	NM_002497.4(NEK2):c.1214C>T (p.Thr405Ile)	NEK2 (T405I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1575027	NM_002497.4(NEK2):c.1200T>G (p.Ser400=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802570	NM_002497.4(NEK2):c.1199C>G (p.Ser400Cys)	NEK2 (S400C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718767	NM_002497.4(NEK2):c.1184T>C (p.Met395Thr)	NEK2 (M395T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964196	NM_002497.4(NEK2):c.1160G>A (p.Ser387Asn)	NEK2 (S387N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1380996	NM_002497.4(NEK2):c.1143G>C (p.Lys381Asn)	NEK2 (K381N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2280070	NM_002497.4(NEK2):c.1135G>C (p.Val379Leu)	NEK2 (V379L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1517843	NM_002497.4(NEK2):c.1127C>T (p.Pro376Leu)	NEK2 (P376L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2422080	NM_002497.4(NEK2):c.1119T>C (p.Leu373=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787380	NM_002497.4(NEK2):c.1117C>T (p.Leu373Phe)	NEK2 (L373F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982743	NM_002497.4(NEK2):c.1113A>G (p.Glu371=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065506	NM_002497.4(NEK2):c.1112-2del	NEK2	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2011967	NM_002497.4(NEK2):c.1112-6C>G	NEK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1560096	NM_002497.4(NEK2):c.1112-10C>T	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541920	NM_002497.4(NEK2):c.1112-17T>C	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1479505	NM_002497.4(NEK2):c.1110del (p.Glu371fs)	NEK2 (E371fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1504885	NM_002497.4(NEK2):c.1085A>C (p.Lys362Thr)	NEK2 (K362T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509671	NM_002497.4(NEK2):c.1081C>T (p.Arg361Trp)	NEK2 (R361W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370262	NM_002497.4(NEK2):c.1067G>A (p.Ser356Asn)	NEK2 (S356N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165318	NM_002497.4(NEK2):c.1061A>G (p.Asn354Ser)	NEK2 (N354S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 2051305	NM_002497.4(NEK2):c.1050_1057dup (p.Lys353delinsIleCysTer)	NEK2	Duplication (nonsense)	not provided	GUncertain significance
Select item 2121839	NM_002497.4(NEK2):c.1056G>A (p.Leu352=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376012	NM_002497.4(NEK2):c.1051C>G (p.Leu351Val)	NEK2 (L351V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547557	NM_002497.4(NEK2):c.1041A>G (p.Arg347=)	NEK2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1484042	NM_002497.4(NEK2):c.1040G>C (p.Arg347Thr)	NEK2 (R347T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028575	NM_002497.4(NEK2):c.1027G>A (p.Asp343Asn)	NEK2 (D343N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 1607701	NM_002497.4(NEK2):c.1018C>T (p.Leu340=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375036	NM_002497.4(NEK2):c.1015A>T (p.Arg339Ter)	NEK2 (R339*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3028579	NM_002497.4(NEK2):c.1010G>C (p.Arg337Pro)	NEK2 (R337P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 1907032	NM_002497.4(NEK2):c.1010G>A (p.Arg337His)	NEK2 (R337H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1052377	NM_002497.4(NEK2):c.1009C>T (p.Arg337Cys)	NEK2 (R337C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097139	NM_002497.4(NEK2):c.996G>A (p.Gln332=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077911	NM_002497.4(NEK2):c.990A>G (p.Lys330=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170524	NM_002497.4(NEK2):c.986-10C>A	NEK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2133732	NM_002497.4(NEK2):c.986-15A>G	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646723	NM_002497.4(NEK2):c.985+20A>G	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924790	NM_002497.4(NEK2):c.985+17dup	NEK2	Duplication (intron variant)	not provided	GBenign
Select item 2977504	NM_002497.4(NEK2):c.985+11A>C	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1418071	NM_002497.4(NEK2):c.985+1G>A	NEK2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1491063	NM_002497.4(NEK2):c.985C>T (p.Gln329Ter)	NEK2 (Q329*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1617534	NM_002497.4(NEK2):c.975A>G (p.Glu325=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914177	NM_002497.4(NEK2):c.963A>G (p.Lys321=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348097	NM_002497.4(NEK2):c.953G>A (p.Arg318Gln)	NEK2 (R318Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1026253	NM_002497.4(NEK2):c.952C>T (p.Arg318Ter)	NEK2 (R318*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1498755	NM_002497.4(NEK2):c.937T>A (p.Leu313Ile)	NEK2 (L313I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956981	NM_002497.4(NEK2):c.932T>A (p.Ile311Asn)	NEK2 (I311N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008179	NM_002497.4(NEK2):c.909G>T (p.Leu303Phe)	NEK2 (L303F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934718	NM_002497.4(NEK2):c.907T>C (p.Leu303=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170220	NM_002497.4(NEK2):c.892G>T (p.Asp298Tyr)	NEK2 (D298Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651932	NM_002497.4(NEK2):c.888G>A (p.Ser296=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2799087	NM_002497.4(NEK2):c.886T>C (p.Ser296Pro)	NEK2 (S296P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577129	NM_002497.4(NEK2):c.885A>G (p.Lys295=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1345941	NM_002497.4(NEK2):c.877C>A (p.Pro293Thr)	NEK2 (P293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585704	NM_002497.4(NEK2):c.867A>G (p.Gln289=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709034	NM_002497.4(NEK2):c.863G>A (p.Arg288Gln)	NEK2 (R288Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 67 +1 more	GBenign/Likely benign
Select item 1422548	NM_002497.4(NEK2):c.862C>T (p.Arg288Ter)	NEK2 (R288*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3012847	NM_002497.4(NEK2):c.859G>A (p.Gly287Arg)	NEK2 (G287R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555419	NM_002497.4(NEK2):c.852G>A (p.Glu284=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777086	NM_002497.4(NEK2):c.845A>G (p.Asn282Ser)	NEK2 (N282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382085	NM_002497.4(NEK2):c.839GAA[1] (p.Arg281del)	NEK2 (R281del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1464886	NM_002497.4(NEK2):c.842G>T (p.Arg281Ile)	NEK2 (R281I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836699	NM_002497.4(NEK2):c.840A>G (p.Arg280=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425260	NM_002497.4(NEK2):c.832G>A (p.Glu278Lys)	NEK2 (E278K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640528	NM_002497.4(NEK2):c.831C>T (p.Asp277=)	NEK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1479028	NM_002497.4(NEK2):c.831C>A (p.Asp277Glu)	NEK2 (D277E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498290	NM_002497.4(NEK2):c.824T>C (p.Val275Ala)	NEK2 (V275A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646015	NM_002497.4(NEK2):c.818A>G (p.Asp273Gly)	NEK2 (D273G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2856369	NM_002497.4(NEK2):c.817G>T (p.Asp273Tyr)	NEK2 (D273Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436930	NM_002497.4(NEK2):c.817G>A (p.Asp273Asn)	NEK2 (D273N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013304	NM_002497.4(NEK2):c.807T>C (p.Pro269=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995687	NM_002497.4(NEK2):c.805C>A (p.Pro269Thr)	NEK2 (P269T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961655	NM_002497.4(NEK2):c.803del (p.Asn268fs)	NEK2 (N268fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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