4750[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
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 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 903090	NM_001199397.3(NEK1):c.*1222T>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 903091	NM_001199397.3(NEK1):c.*1155A>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 903092	NM_001199397.3(NEK1):c.*1062A>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 903093	NM_001199397.3(NEK1):c.*996G>A	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 348079	NM_001199397.3(NEK1):c.*835A>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 348080	NM_001199397.3(NEK1):c.*806G>A	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 899462	NM_001199397.3(NEK1):c.*758T>A	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 348081	NM_001199397.3(NEK1):c.*710A>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348082	NM_001199397.3(NEK1):c.*658A>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 899463	NM_001199397.3(NEK1):c.*641T>C	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 899464	NM_001199397.3(NEK1):c.*551A>T	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GBenign
Select item 899465	NM_001199397.3(NEK1):c.*537T>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 348083	NM_001199397.3(NEK1):c.*495T>C	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348084	NM_001199397.3(NEK1):c.*494A>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 900594	NM_001199397.3(NEK1):c.*459A>C	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 900595	NM_001199397.3(NEK1):c.*354A>T	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
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 348086	NM_001199397.3(NEK1):c.*156C>T	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 348087	NM_001199397.3(NEK1):c.*154G>A	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 902282	NM_001199397.3(NEK1):c.*107A>G	NEK1	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 2885363	NM_001199397.3(NEK1):c.3850A>G (p.Asn1284Asp)	NEK1 (N1212D +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 3059174	NM_001199397.3(NEK1):c.3848-3C>T	NEK1	Single nucleotide variant (intron variant)	NEK1-related disorder	GLikely benign
Select item 993891	NM_001199397.3(NEK1):c.3848-10T>G	NEK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600394	NM_001199397.3(NEK1):c.3848-14dup	NEK1	Duplication (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GBenign
Select item 667932	NM_001199397.3(NEK1):c.3848-198C>T	NEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2917649	NM_001199397.3(NEK1):c.3847+16_3847+17del	NEK1	Deletion (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2140308	NM_001199397.3(NEK1):c.3847+13C>T	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 1377401	NM_001199397.3(NEK1):c.3847+6A>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2854712	NM_001199397.3(NEK1):c.3843A>G (p.Gln1281=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 1328972	NM_001199397.3(NEK1):c.3838T>C (p.Tyr1280His)	NEK1 (Y1119H +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24	GUncertain significance
Select item 1366491	NM_001199397.3(NEK1):c.3830A>G (p.Asp1277Gly)	NEK1 (D1205G +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 545536	NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala)	NEK1 (D1277A +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 902283	NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser)	NEK1 (I1109S +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2956673	NM_001199397.3(NEK1):c.3806A>T (p.Lys1269Met)	NEK1 (K1108M +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2143881	NM_001199397.3(NEK1):c.3794A>G (p.His1265Arg)	NEK1 (H1104R +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 862762	NM_001199397.3(NEK1):c.3793C>T (p.His1265Tyr)	NEK1 (H1265Y +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2190507	NM_001199397.3(NEK1):c.3783T>G (p.Asn1261Lys)	NEK1 (N1164K +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2075290	NM_001199397.3(NEK1):c.3772A>G (p.Ile1258Val)	NEK1 (I1097V +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 1678579	NM_001199397.3(NEK1):c.3761_3771del (p.Ile1254fs)	NEK1 (I1093fs +6 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 1642487	NM_001199397.3(NEK1):c.3771T>C (p.Asn1257=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 1978558	NM_001199397.3(NEK1):c.3770A>G (p.Asn1257Ser)	NEK1 (N1160S +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
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 348088	NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short rib-polydactyly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1991201	NM_001199397.3(NEK1):c.3727G>A (p.Asp1243Asn)	NEK1 (D1082N +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
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 2812876	NM_001199397.3(NEK1):c.3726del (p.Asp1243fs)	NEK1 (D1198fs +6 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 3191645	NM_001199397.3(NEK1):c.3722A>G (p.His1241Arg)	NEK1 (H1080R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 902284	NM_001199397.3(NEK1):c.3715-6G>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GConflicting classifications of pathogenicity
Select item 2965701	NM_001199397.3(NEK1):c.3715-7G>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2827705	NM_001199397.3(NEK1):c.3715-12A>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 1973120	NM_001199397.3(NEK1):c.3710T>C (p.Ile1237Thr)	NEK1 (I1140T +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 3191644	NM_001199397.3(NEK1):c.3697G>T (p.Val1233Phe)	NEK1 (V1205F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787711	NM_001199397.3(NEK1):c.3678C>G (p.Gly1226=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1433135	NM_001199397.3(NEK1):c.3664G>A (p.Glu1222Lys)	NEK1 (E1125K +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 348089	NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +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 1635356	NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	NEK1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2080664	NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys)	NEK1 (S1106C +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GUncertain significance
Select item 2966809	NM_001199397.3(NEK1):c.3595G>A (p.Gly1199Ser)	NEK1 (G1127S +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 1360240	NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp)	NEK1 (N1124D +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GUncertain significance
Select item 3357533	NM_001199397.3(NEK1):c.3584A>G (p.Asp1195Gly)	NEK1 (D1034G +6 more)	Single nucleotide variant (missense variant +1 more)	NEK1-related disorder	GUncertain significance
Select item 2887806	NM_001199397.3(NEK1):c.3584A>T (p.Asp1195Val)	NEK1 (D1098V +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 3338116	NM_001199397.3(NEK1):c.3584-10T>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 2415470	NM_001199397.3(NEK1):c.3584-11T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2760769	NM_001199397.3(NEK1):c.3584-19_3584-15del	NEK1	Deletion (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2976115	NM_001199397.3(NEK1):c.3584-20A>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
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 1573588	NM_001199397.3(NEK1):c.3583+19G>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 348091	NM_001199397.3(NEK1):c.3583+8A>C	NEK1	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 3355941	NM_001199397.3(NEK1):c.3583+7G>A	NEK1	Single nucleotide variant (intron variant)	NEK1-related disorder	GLikely benign
Select item 809705	NM_001199397.3(NEK1):c.3581dup (p.Asp1195fs)	NEK1 (D1034fs +6 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2127401	NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)	NEK1 (S1033* +6 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 2060120	NM_001199397.3(NEK1):c.3579C>T (p.His1193=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2798818	NM_001199397.3(NEK1):c.3568G>A (p.Glu1190Lys)	NEK1 (E1118K +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance

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