ClinVar for MedGen (Select 44252) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023342	NM_001199397.3(NEK1):c.3468A>G (p.Glu1156=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 3023252	NM_001199397.3(NEK1):c.1097_1098del (p.Arg366fs)	NEK1 (R366fs)	Microsatellite (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 3015566	NM_001199397.3(NEK1):c.77A>G (p.Asp26Gly)	NEK1 (D26G)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 3014531	NM_001199397.3(NEK1):c.3375-10T>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 3008525	NM_001199397.3(NEK1):c.1081-7dup	NEK1	Duplication (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 3008103	NM_001199397.3(NEK1):c.2587+3A>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 3007375	NM_001199397.3(NEK1):c.183A>G (p.Pro61=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 3007219	NM_001199397.3(NEK1):c.3081C>A (p.Val1027=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 3004302	NM_001199397.3(NEK1):c.2163G>A (p.Arg721=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 3002570	NM_001199397.3(NEK1):c.2587+18G>T	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 3002099	NM_001199397.3(NEK1):c.3092A>G (p.Gln1031Arg)	NEK1 (Q870R +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2998668	NM_001199397.3(NEK1):c.1029A>G (p.Gln343=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2995941	NM_001199397.3(NEK1):c.2764+12T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2984702	NM_001199397.3(NEK1):c.2060A>G (p.His687Arg)	NEK1 (H590R +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2980038	NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)	NEK1 (W423* +3 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
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 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 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 2964422	NM_001199397.3(NEK1):c.1967AGG[1] (p.Glu657del)	NEK1 (E629del +5 more)	Microsatellite (inframe_deletion +2 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 2954741	NM_001199397.3(NEK1):c.2771A>G (p.Asp924Gly)	NEK1 (D879G +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2917841	NM_001199397.3(NEK1):c.2042C>T (p.Ser681Phe)	NEK1 (S584F +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
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 2915995	NM_001199397.3(NEK1):c.3222+16A>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2915133	NM_001199397.3(NEK1):c.1889G>A (p.Arg630His)	NEK1 (R560H +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2915105	NM_001199397.3(NEK1):c.1911G>A (p.Lys637=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2910644	NM_001199397.3(NEK1):c.2206-12_2206-10del	NEK1	Deletion (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2909864	NM_001199397.3(NEK1):c.309T>A (p.Asp103Glu)	NEK1 (D103E)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2908638	NM_001199397.3(NEK1):c.3335A>C (p.Asp1112Ala)	NEK1 (D1040A +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2907078	NM_001199397.3(NEK1):c.1787A>G (p.Asn596Ser)	NEK1 (N499S +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2904272	NM_001199397.3(NEK1):c.1573C>A (p.Gln525Lys)	NEK1 (Q456K +4 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2890695	NM_001199397.3(NEK1):c.2974+5G>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	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 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 2883175	NM_001199397.3(NEK1):c.3121T>C (p.Phe1041Leu)	NEK1 (F880L +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2879098	NM_001199397.3(NEK1):c.215-4G>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2878259	NM_001199397.3(NEK1):c.2434+10G>T	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2878017	NM_001199397.3(NEK1):c.2489C>T (p.Ala830Val)	NEK1 (A758V +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2874232	NM_001199397.3(NEK1):c.705G>T (p.Val235=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2873883	NM_001199397.3(NEK1):c.2415A>T (p.Thr805=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GLikely benign
Select item 2872386	NM_001199397.3(NEK1):c.1911+6G>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2865853	NM_001199397.3(NEK1):c.2435-15A>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2862267	NM_001199397.3(NEK1):c.1020+4T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2861826	NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)	NEK1 (R536H +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2860903	NM_001199397.3(NEK1):c.1352A>G (p.Asp451Gly)	NEK1 (D409G +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2856417	NM_001199397.3(NEK1):c.3465AGA[2] (p.Glu1158del)	NEK1 (E1113del +6 more)	Microsatellite (inframe_deletion +1 more)	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 2852962	NM_001199397.3(NEK1):c.2736G>A (p.Met912Ile)	NEK1 (M840I +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2844871	NM_001199397.3(NEK1):c.2764+11A>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2842673	NM_001199397.3(NEK1):c.397-10T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2840838	NM_001199397.3(NEK1):c.2390C>T (p.Pro797Leu)	NEK1 (P695L +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2835469	NM_001199397.3(NEK1):c.2587+16T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2829927	NM_001199397.3(NEK1):c.2435-16T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
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 2823293	NM_001199397.3(NEK1):c.1430+19_1430+20delinsAG	NEK1	Indel (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2818860	NM_001199397.3(NEK1):c.1834-17del	NEK1	Deletion (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
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 2810084	NM_001199397.3(NEK1):c.869-7C>T	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2809345	NM_001199397.3(NEK1):c.1266+20A>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2808237	NM_001199397.3(NEK1):c.3234A>G (p.Thr1078=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2807760	NM_001199397.3(NEK1):c.3222+17A>C	NEK1	Single nucleotide variant (intron variant)	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
Select item 2798414	NM_001199397.3(NEK1):c.490A>G (p.Ile164Val)	NEK1 (I164V)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2798156	NM_001199397.3(NEK1):c.1553A>G (p.Asn518Ser)	NEK1 (N518S +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2796928	NM_001199397.3(NEK1):c.1952T>G (p.Leu651Arg)	NEK1 (L607R +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2793745	NM_001199397.3(NEK1):c.1942_1944delinsGGG (p.Lys648Gly)	NEK1 (K576G +5 more)	Indel (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2793744	NM_001199397.3(NEK1):c.1945_1951del (p.Lys648_Glu649insTer)	NEK1	Deletion (nonsense +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 2793276	NM_001199397.3(NEK1):c.1187A>G (p.Glu396Gly)	NEK1 (E396G)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2785822	NM_001199397.3(NEK1):c.607-16A>T	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2778518	NM_001199397.3(NEK1):c.3343A>C (p.Ile1115Leu)	NEK1 (I1043L +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2777537	NM_001199397.3(NEK1):c.1905A>G (p.Ser635=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2775604	NM_001199397.3(NEK1):c.52G>A (p.Ala18Thr)	NEK1 (A18T)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2773035	NM_001199397.3(NEK1):c.808-20T>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2771856	NM_001199397.3(NEK1):c.2438A>G (p.His813Arg)	NEK1 (H769R +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2771477	NM_001199397.3(NEK1):c.2436A>G (p.Arg812=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2766949	NM_001199397.3(NEK1):c.1639A>G (p.Asn547Asp)	NEK1 (N547D +4 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2766690	NM_001199397.3(NEK1):c.1191+13T>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2763178	NM_001199397.3(NEK1):c.1911+20C>A	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 2756709	NM_001199397.3(NEK1):c.1463C>T (p.Pro488Leu)	NEK1 (P471L +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2753168	NM_001199397.3(NEK1):c.2010_2011del (p.Leu670fs)	NEK1 (L642fs +6 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic
Select item 2748776	NM_001199397.3(NEK1):c.1833+1G>T	NEK1	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 2747878	NM_001199397.3(NEK1):c.676C>T (p.His226Tyr)	NEK1 (H226Y)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2744835	NM_001199397.3(NEK1):c.606+1G>C	NEK1	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 2743841	NM_001199397.3(NEK1):c.1950A>G (p.Gln650=)	NEK1	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2743401	NM_001199397.3(NEK1):c.2693T>C (p.Val898Ala)	LOC129993365, NEK1 (V826A +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2743257	NM_001199397.3(NEK1):c.693C>G (p.Leu231=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2739707	NM_001199397.3(NEK1):c.1899C>T (p.Ile633=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2739379	NM_001199397.3(NEK1):c.464+8G>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely benign
Select item 2737992	NM_001199397.3(NEK1):c.1911+3A>G	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2734685	NM_001199397.3(NEK1):c.1140+3A>C	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2733175	NM_001199397.3(NEK1):c.1294A>G (p.Ile432Val)	NEK1 (I415V +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2729713	NM_001199397.3(NEK1):c.782G>T (p.Arg261Leu)	NEK1 (R261L)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2727669	NM_001199397.3(NEK1):c.1829_1830delinsGG (p.Glu610Gly)	NEK1 (E513G +6 more)	Indel (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2726000	NM_001199397.3(NEK1):c.1958G>A (p.Arg653Gln)	NEK1 (R556Q +5 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2725119	NM_001199397.3(NEK1):c.3154A>G (p.Lys1052Glu)	NEK1 (K1008E +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2723242	NM_001199397.3(NEK1):c.2008-5T>A	NEK1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 2723086	NM_001199397.3(NEK1):c.1553A>C (p.Asn518Thr)	NEK1 (N476T +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GUncertain significance
Select item 2722994	NM_001199397.3(NEK1):c.118-1G>A	NEK1	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 2716734	NM_001199397.3(NEK1):c.2282_2283dup (p.Asp762fs)	NEK1 (D665fs +6 more)	Microsatellite (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic

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