"GeneDx"[submitter] AND "NEK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 348085	NM_001199397.3(NEK1):c.*165G>A	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 667932	NM_001199397.3(NEK1):c.3848-198C>T	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512238	NM_001199397.3(NEK1):c.3768A>G (p.Gln1256=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1810594	NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)	NEK1 (D1171Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 348089	NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 348090	NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)	NEK1 (D1208N +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 451873	NM_001199397.3(NEK1):c.3616G>T (p.Glu1206Ter)	NEK1 (E1178* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1217911	NM_001199397.3(NEK1):c.3584-281_3584-280dup	NEK1	Duplication (intron variant)	not provided	GLikely benign
Select item 1183653	NM_001199397.3(NEK1):c.3584-281dup	NEK1	Duplication (intron variant)	not provided	GBenign
Select item 1261144	NM_001199397.3(NEK1):c.3584-270del	NEK1	Deletion (intron variant)	not provided	GBenign
Select item 1187129	NM_001199397.3(NEK1):c.3584-280T>A	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230282	NM_001199397.3(NEK1):c.3583+230C>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 348092	NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 423713	NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys)	NEK1 (E1123K +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 283367	NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	NEK1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1243908	NM_001199397.3(NEK1):c.3375-102G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207568	NM_001199397.3(NEK1):c.3375-174C>T	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 996748	NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter)	NEK1 (E1016* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1612828	NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu)	NEK1 (V1000L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 457136	NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GBenign
Select item 1215901	NM_001199397.3(NEK1):c.3223-120del	NEK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1189183	NM_001199397.3(NEK1):c.3223-161A>T	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667931	NM_001199397.3(NEK1):c.3223-311T>C	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276262	NM_001199397.3(NEK1):c.3222+72A>T	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 283728	NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +3 more	GBenign/Likely benign
Select item 1138974	NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)	NEK1 (T1020A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 208600	NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)	NEK1 (S1036* +6 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GPathogenic/Likely pathogenic
Select item 348098	NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 667930	NM_001199397.3(NEK1):c.2975-139G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667929	NM_001199397.3(NEK1):c.2975-303T>C	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203665	NM_001199397.3(NEK1):c.2974+248C>G	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516544	NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 453187	NM_001199397.3(NEK1):c.2889G>A (p.Ser963=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1218623	NM_001199397.3(NEK1):c.2886-155T>G	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667928	NM_001199397.3(NEK1):c.2885+220C>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207920	NM_001199397.3(NEK1):c.2885+142T>C	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289726	NM_001199397.3(NEK1):c.2885+92A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446673	NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)	NEK1 (N894fs +6 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 95508	NM_001199397.3(NEK1):c.2765-20G>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GBenign
Select item 1180188	NM_001199397.3(NEK1):c.2765-57A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667927	NM_001199397.3(NEK1):c.2764+213C>T	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 348101	NM_001199397.3(NEK1):c.2764+12T>A	NEK1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 527126	NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)	NEK1 (Q883E +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GBenign/Likely benign
Select item 516330	NM_001199397.3(NEK1):c.2588-12_2588-11del	NEK1	Deletion (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GBenign
Select item 1233709	NM_001199397.3(NEK1):c.2588-66A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3370127	NM_001199397.3(NEK1):c.2566G>A (p.Glu856Lys)	NEK1 (E754K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1219914	NM_001199397.3(NEK1):c.2434+69_2434+70del	NEK1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 348103	NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 514071	NM_001199397.3(NEK1):c.2409A>G (p.Leu803=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 348107	NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly)	NEK1 (E724G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 266051	NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)	NEK1 (N717K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1704704	NM_001199397.3(NEK1):c.2159C>T (p.Thr720Ile)	NEK1 (T618I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 674996	NM_001199397.3(NEK1):c.2140-69G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193153	NM_001199397.3(NEK1):c.2140-158G>T	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671220	NM_001199397.3(NEK1):c.2140-195A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 266049	NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)	NEK1 (V685M +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 509475	NM_001199397.3(NEK1):c.2067A>G (p.Thr689=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GLikely benign
Select item 1210891	NM_001199397.3(NEK1):c.2008-140_2008-139insATA	NEK1	Insertion (intron variant)	not provided	GLikely benign
Select item 1248577	NM_001199397.3(NEK1):c.2007+101del	NEK1	Deletion (intron variant)	not provided	GBenign
Select item 446686	NM_001199397.3(NEK1):c.1992del (p.Val665fs)	NEK1 (V593fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1332832	NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)	NEK1 (R556* +5 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GPathogenic
Select item 1316177	NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu)	NEK1 (K551E +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 1227943	NM_001199397.3(NEK1):c.1912-48C>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273964	NM_001199397.3(NEK1):c.1912-68dup	NEK1	Duplication (intron variant)	not provided	GBenign
Select item 1262545	NM_001199397.3(NEK1):c.1912-69del	NEK1	Deletion (intron variant)	not provided	GBenign
Select item 1250024	NM_001199397.3(NEK1):c.1912-69C>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230760	NM_001199397.3(NEK1):c.1912-70_1912-69del	NEK1	Deletion (intron variant)	not provided	GBenign
Select item 1278041	NM_001199397.3(NEK1):c.1912-70C>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256643	NM_001199397.3(NEK1):c.1912-71_1912-70insAAA	NEK1	Insertion (intron variant)	not provided	GBenign
Select item 1206902	NM_001199397.3(NEK1):c.1912-260A>T	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200747	NM_001199397.3(NEK1):c.1911+86A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674995	NM_001199397.3(NEK1):c.1911+23G>T	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 348108	NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr)	NEK1 (A598T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1192137	NM_001199397.3(NEK1):c.1834-85T>C	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199989	NM_001199397.3(NEK1):c.1834-222G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247826	NM_001199397.3(NEK1):c.1833+158A>C	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667926	NM_001199397.3(NEK1):c.1833+158A>T	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206553	NM_001199397.3(NEK1):c.1833+109G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674994	NM_001199397.3(NEK1):c.1833+40G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95507	NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1208982	NM_001199397.3(NEK1):c.1749+197C>T	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197460	NM_001199397.3(NEK1):c.1666-151T>C	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279910	NM_001199397.3(NEK1):c.1666-260C>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211512	NM_001199397.3(NEK1):c.1665+306A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207330	NM_001199397.3(NEK1):c.1665+239G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183332	NM_001199397.3(NEK1):c.1563-152_1563-151del	NEK1	Deletion (intron variant)	not provided	GLikely benign
Select item 667925	NM_001199397.3(NEK1):c.1562+299C>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667924	NM_001199397.3(NEK1):c.1562+170_1562+171dup	NEK1	Duplication (intron variant)	not provided	GBenign
Select item 779053	NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg)	NEK1 (P433R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 348114	NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)	NEK1 (A463V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2443669	NM_001199397.3(NEK1):c.1328A>G (p.Tyr443Cys)	NEK1 (Y401C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1218645	NM_001199397.3(NEK1):c.1267-36A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191036	NM_001199397.3(NEK1):c.1267-181G>T	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247183	NM_001199397.3(NEK1):c.1267-205C>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277982	NM_001199397.3(NEK1):c.1267-278A>G	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277539	NM_001199397.3(NEK1):c.1267-316T>C	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264729	NM_001199397.3(NEK1):c.1266+277G>A	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219695	NM_001199397.3(NEK1):c.1266+277G>T	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446672	NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)	NEK1 (W409* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GPathogenic/Likely pathogenic

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