ClinVar for PubMed (Select 26386044) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2952733	NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)	KIAA0586 (E1253* +6 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2951452	NM_001329943.3(KIAA0586):c.1253+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2950716	NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)	KIAA0586 (P1043fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2948901	NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)	KIAA0586 (E1085* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2948726	NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)	KIAA0586 (Q79* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2946791	NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)	KIAA0586 (N299* +5 more)	Duplication (nonsense)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2945150	NM_001329943.3(KIAA0586):c.3144+2T>C	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2942852	NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)	KIAA0586 (N277fs +5 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2942476	NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)	KIAA0586 (Q709* +6 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2941409	NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)	KIAA0586 (G112fs +5 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2941198	NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)	KIAA0586 (E404fs +5 more)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2939645	NM_001329943.3(KIAA0586):c.3144+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2939015	NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)	KIAA0586 (L32fs +2 more)	Duplication (frameshift variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2938506	NM_001329943.3(KIAA0586):c.2254+1G>T	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2938340	NM_001329943.3(KIAA0586):c.271-1G>A	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2935424	NM_001329943.3(KIAA0586):c.1130-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2934599	NM_001329943.3(KIAA0586):c.3991-1G>A	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2934034	NM_001329943.3(KIAA0586):c.200-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2932088	NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)	KIAA0586 (Q412* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2930234	NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)	KIAA0586 (M628fs +6 more)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2929969	NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)	KIAA0586 (L1220fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2928289	NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)	KIAA0586 (K662fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2922276	NM_001329943.3(KIAA0586):c.2634+1G>T	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2582362	NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)	KIAA0586 (I1125fs +6 more)	Duplication (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic/Likely pathogenic
Select item 2424019	NC_000014.8:g.(?_58951496)_(58953792_?)del	KIAA0586	Deletion	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2424018	NC_000014.8:g.(?_58910652)_(58917484_?)dup	KIAA0586	Duplication	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2424016	NC_000014.8:g.(?_58896061)_(58899195_?)dup	KIAA0586	Duplication	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2424014	NC_000014.8:g.(?_58949211)_(58949450_?)dup	KIAA0586	Duplication	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2424013	NC_000014.8:g.(?_58938897)_(58941535_?)del	KIAA0586	Deletion	Joubert syndrome 23 +1 more	GPathogenic
Select item 2424012	NC_000014.8:g.(?_58926541)_(58927898_?)del	KIAA0586	Deletion	Joubert syndrome 23 +1 more	GPathogenic
Select item 2424010	NC_000014.8:g.(?_58975253)_(58975447_?)del	KIAA0586	Deletion	Joubert syndrome 23 +1 more	GPathogenic
Select item 2415477	NM_001329943.3(KIAA0586):c.807+1G>T	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2178589	NM_001329943.3(KIAA0586):c.1884+1G>T	KIAA0586	Single nucleotide variant (splice donor variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2168842	NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)	KIAA0586 (T1071fs +6 more)	Duplication (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2161333	NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)	KIAA0586 (M1456fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2150862	NM_001329943.3(KIAA0586):c.3859-3_3865del	KIAA0586	Deletion (splice acceptor variant +1 more)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 2128114	NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)	KIAA0586 (L555fs +6 more)	Duplication (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2111855	NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)	KIAA0586 (A549fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2107486	NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)	KIAA0586 (S1373* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2107085	NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)	KIAA0586 (N852fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2097513	NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)	KIAA0586 (S383fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2085851	NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)	KIAA0586 (S1384fs +6 more)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2085377	NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)	KIAA0586 (E5* +1 more)	Duplication (nonsense +2 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2034633	NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)	KIAA0586 (Q1334* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2034084	NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)	KIAA0586 (K1504* +6 more)	Duplication (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2019342	NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)	KIAA0586 (Q1441* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2016325	NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)	KIAA0586 (T794fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2008048	NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)	KIAA0586 (Y1183* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2004923	NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)	KIAA0586 (K1056* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1984603	NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)	KIAA0586 (I538fs +5 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1976272	NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG	KIAA0586 (H160fs +1 more)	Insertion (frameshift variant +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1955189	NM_001329943.3(KIAA0586):c.341-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1938645	NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)	KIAA0586 (L1164fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1901041	NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG	KIAA0586	Insertion (splice donor variant +1 more)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1899465	NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)	KIAA0586 (D203fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1888361	NM_001329943.3(KIAA0586):c.2945-1G>C	KIAA0586	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1683813	NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs)	KIAA0586 (A1018fs +6 more)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +2 more	GPathogenic
Select item 1524270	NM_001329943.3(KIAA0586):c.411-1486G>A	KIAA0586	Single nucleotide variant (splice acceptor variant +1 more)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1519936	NM_001329943.3(KIAA0586):c.1885-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1517797	NM_001329943.3(KIAA0586):c.3142_3144+5del	KIAA0586	Deletion (splice donor variant)	Joubert syndrome 23 +1 more	GPathogenic/Likely pathogenic
Select item 1489936	NM_001329943.3(KIAA0586):c.4324-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1477276	NM_001329943.3(KIAA0586):c.2825+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1466229	NM_001329943.3(KIAA0586):c.1129+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 1458692	NC_000014.8:g.(?_58711639)_(59014694_?)del	ARID4A, KIAA0586 +3 more	Deletion	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1457538	NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs)	KIAA0586 (E321fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1457530	NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)	KIAA0586 (E598fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1457512	NM_001329943.3(KIAA0586):c.4495+3767A>T	KIAA0586 (K1559* +1 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1456969	NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)	KIAA0586 (Q1109* +6 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1453816	NM_001329943.3(KIAA0586):c.4495+3785A>T	KIAA0586 (K1512* +1 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1453784	NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs)	KIAA0586 (E1333fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1453478	NM_001329943.3(KIAA0586):c.4495+3777del	KIAA0586 (C1562fs +1 more)	Deletion (intron variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1453326	NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs)	KIAA0586 (Y298fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1452576	NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs)	KIAA0586 (P1137fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1435732	NM_001329943.3(KIAA0586):c.411-1371G>A	KIAA0586 (W187* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1435532	NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs)	KIAA0586 (E581fs +5 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1429932	NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs)	KIAA0586 (V1094fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1406363	NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)	KIAA0586 (R544* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +2 more	GPathogenic
Select item 1379251	NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)	KIAA0586 (C27* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1369714	NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs)	KIAA0586 (P1118fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1359882	NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs)	KIAA0586 (T208fs +5 more)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1357141	NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)	KIAA0586 (Q1401* +5 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1350774	NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)	KIAA0586 (E21* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1175854	NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)	KIAA0586 (K13fs +1 more)	Deletion (frameshift variant +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1175094	NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)	KIAA0586 (V706fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1073545	NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs)	KIAA0586 (K219fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1072185	NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs)	KIAA0586 (R417fs +5 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 1070838	NM_001329943.3(KIAA0586):c.4495+3755del	KIAA0586 (V1502fs +1 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1070138	NM_001329943.3(KIAA0586):c.1935del (p.Val646fs)	KIAA0586 (V506fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1068589	NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs)	KIAA0586 (K349fs +5 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1036257	NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs)	KIAA0586 (V1411fs +5 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 854917	NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)	KIAA0586 (S1083* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 832765	NC_000014.9:g.(?_58448320)_(58450766_?)dup	KIAA0586	Duplication	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 583841	NC_000014.9:g.(?_58443934)_(58450766_?)del	KIAA0586	Deletion	Joubert syndrome 23 +1 more	GPathogenic
Select item 575236	NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)	KIAA0586 (I26fs +1 more)	Duplication (frameshift variant +2 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 573644	NM_001329943.3(KIAA0586):c.3781+2T>C	KIAA0586	Single nucleotide variant (splice donor variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 524064	NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs)	KIAA0586 (Q249fs +5 more)	Duplication (frameshift variant)	Joubert syndrome 23 +2 more	GPathogenic/Likely pathogenic
Select item 475455	NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GPathogenic
Select item 445497	NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	KIAA0586 (H17fs +2 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 23 +6 more	GConflicting classifications of pathogenicity
Select item 435569	NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)	KIAA0586 (M1318fs +6 more)	Microsatellite (frameshift variant)	Joubert syndrome 23 +1 more	GPathogenic/Likely pathogenic
Select item 424017	NM_001329943.3(KIAA0586):c.-29A>C	KIAA0586	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely pathogenic

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