ClinVar for MedGen (Select 815878) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064744	NM_018076.5(ODAD2):c.1743+1G>C	ODAD2	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 23	GLikely pathogenic
Select item 3018578	NM_018076.5(ODAD2):c.224+11T>C	LOC126860891, ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 3015839	NM_018076.5(ODAD2):c.1744-19G>A	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 3003869	NM_018076.5(ODAD2):c.642A>G (p.Lys214=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2995359	NM_018076.5(ODAD2):c.1549dup (p.Ile517fs)	ODAD2 (I517fs +2 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2989939	NM_018076.5(ODAD2):c.316C>T (p.Gln106Ter)	ODAD2 (Q106*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2989644	NM_018076.5(ODAD2):c.2460A>T (p.Ala820=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2988109	NM_018076.5(ODAD2):c.1744-10A>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2987373	NM_018076.5(ODAD2):c.1941C>T (p.Asn647=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2978084	NM_018076.5(ODAD2):c.2139C>T (p.His713=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2963145	NM_018076.5(ODAD2):c.2919A>G (p.Lys973=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2961096	NM_018076.5(ODAD2):c.975T>C (p.Asp325=)	ODAD2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2956540	NM_018076.5(ODAD2):c.1986+11C>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2915811	NM_018076.5(ODAD2):c.1986+10C>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2910819	NM_018076.5(ODAD2):c.820-8T>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2906820	NM_018076.5(ODAD2):c.2610+8C>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2904361	NM_018076.5(ODAD2):c.1812C>T (p.Asp604=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2900019	NM_018076.5(ODAD2):c.1142+7A>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2895572	NM_018076.5(ODAD2):c.882T>C (p.Leu294=)	ODAD2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2894366	NM_018076.5(ODAD2):c.1986+13G>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2892913	NM_018076.5(ODAD2):c.382+7T>C	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2890430	NM_018076.5(ODAD2):c.2283G>A (p.Leu761=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2887420	NM_018076.5(ODAD2):c.2595C>T (p.Cys865=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2874206	NM_018076.5(ODAD2):c.1387-4G>A	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2866210	NM_018076.5(ODAD2):c.1386+19A>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2861368	NM_018076.5(ODAD2):c.1743+10C>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2826067	NM_018076.5(ODAD2):c.778_779del (p.Leu260fs)	ODAD2 (L260fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2806864	NM_018076.5(ODAD2):c.682+18G>A	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2806120	NM_018076.5(ODAD2):c.22T>C (p.Leu8=)	LOC126860891, ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2804256	NM_018076.5(ODAD2):c.1906C>T (p.Leu636=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2803644	NM_018076.5(ODAD2):c.225-16T>C	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2801846	NM_018076.5(ODAD2):c.2368C>T (p.Arg790Ter)	ODAD2 (R790* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2800417	NM_018076.5(ODAD2):c.2845del (p.Cys949fs)	ODAD2 (C641fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2797809	NM_018076.5(ODAD2):c.1387-15A>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2792050	NM_018076.5(ODAD2):c.1387-17G>C	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2781636	NM_018076.5(ODAD2):c.867A>T (p.Ser289=)	ODAD2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2779040	NM_018076.5(ODAD2):c.788del (p.Thr263fs)	ODAD2 (T263fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2771797	NM_018076.5(ODAD2):c.2800-6G>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2768871	NM_018076.5(ODAD2):c.1347A>G (p.Ser449=)	ODAD2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2741400	NM_018076.5(ODAD2):c.1029T>C (p.Ile343=)	ODAD2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2740404	NM_018076.5(ODAD2):c.1533+12T>C	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2738424	NM_018076.5(ODAD2):c.1387-10A>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2735387	NM_018076.5(ODAD2):c.247G>T (p.Glu83Ter)	ODAD2 (E83*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2731197	NM_018076.5(ODAD2):c.1125C>A (p.Thr375=)	ODAD2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2729507	NM_018076.5(ODAD2):c.2098-7C>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2727632	NM_018076.5(ODAD2):c.2598C>A (p.Ile866=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2724229	NM_018076.5(ODAD2):c.1254G>A (p.Lys418=)	ODAD2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2721701	NM_018076.5(ODAD2):c.63C>T (p.Leu21=)	LOC126860891, ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2715844	NM_018076.5(ODAD2):c.798A>G (p.Ala266=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2714187	NM_018076.5(ODAD2):c.1424C>G (p.Ser475Ter)	ODAD2 (S167* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2712990	NM_018076.5(ODAD2):c.2310A>G (p.Glu770=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2712020	NM_018076.5(ODAD2):c.138T>C (p.Pro46=)	LOC126860891, ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2710853	NM_018076.5(ODAD2):c.1713G>A (p.Val571=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2709988	NM_018076.5(ODAD2):c.3018A>G (p.Val1006=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2701822	NM_018076.5(ODAD2):c.382G>A (p.Ala128Thr)	ODAD2 (A128T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2699533	NM_018076.5(ODAD2):c.2304G>A (p.Gln768=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2694900	NM_018076.5(ODAD2):c.382+13C>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2589170	NM_018076.5(ODAD2):c.1915C>G (p.Arg639Gly)	ODAD2 (R331G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23 +1 more	GUncertain significance
Select item 2428090	NM_018076.5(ODAD2):c.2593T>G (p.Cys865Gly)	ODAD2 (C390G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2423964	NM_018076.5(ODAD2):c.325C>T (p.Arg109Cys)	ODAD2 (R109C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2415707	NM_018076.5(ODAD2):c.807A>G (p.Val269=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2415301	NM_018076.5(ODAD2):c.284C>G (p.Ser95Cys)	ODAD2 (S95C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2414666	NM_018076.5(ODAD2):c.761C>T (p.Pro254Leu)	ODAD2 (P254L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2413746	NM_018076.5(ODAD2):c.1108A>C (p.Ser370Arg)	ODAD2 (S370R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2198869	NM_018076.5(ODAD2):c.683-18C>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2197127	NM_018076.5(ODAD2):c.2252+11G>T	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2194849	NM_018076.5(ODAD2):c.251T>A (p.Val84Asp)	ODAD2 (V84D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2194792	NM_018076.5(ODAD2):c.183_184del (p.Ser62fs)	LOC126860891, ODAD2 (S62fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2191054	NM_018076.5(ODAD2):c.1987-19T>A	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2185031	NM_018076.5(ODAD2):c.3129C>T (p.Tyr1043=)	LOC132089773, ODAD2 (T609I)	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2179977	NM_018076.5(ODAD2):c.1273G>A (p.Asp425Asn)	ODAD2 (D425N +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2176504	NM_018076.5(ODAD2):c.689A>T (p.Glu230Val)	ODAD2 (E230V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23 +1 more	GUncertain significance
Select item 2174634	NM_018076.5(ODAD2):c.991C>G (p.Pro331Ala)	ODAD2 (P23A +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2171789	NM_018076.5(ODAD2):c.927G>T (p.Met309Ile)	ODAD2 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2171582	NM_018076.5(ODAD2):c.819+8A>C	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2167309	NM_018076.5(ODAD2):c.256A>G (p.Lys86Glu)	ODAD2 (K86E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2166915	NM_018076.5(ODAD2):c.1004A>C (p.Glu335Ala)	ODAD2 (E27A +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2158903	NM_018076.5(ODAD2):c.1929T>A (p.Thr643=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2157830	NM_018076.5(ODAD2):c.1632T>G (p.Leu544=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2153654	NM_018076.5(ODAD2):c.1813G>A (p.Val605Met)	ODAD2 (V605M +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2153411	NM_018076.5(ODAD2):c.1702G>A (p.Ala568Thr)	ODAD2 (A260T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2152972	NM_018076.5(ODAD2):c.2945C>T (p.Ala982Val)	ODAD2 (A674V +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2149024	NM_018076.5(ODAD2):c.2593T>C (p.Cys865Arg)	ODAD2 (C390R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23 +1 more	GUncertain significance
Select item 2140543	NM_018076.5(ODAD2):c.2877C>T (p.Phe959=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2137356	NM_018076.5(ODAD2):c.1003G>T (p.Glu335Ter)	ODAD2 (E27* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2135143	NM_018076.5(ODAD2):c.456T>C (p.Asn152=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2133774	NM_018076.5(ODAD2):c.356dup (p.Leu119fs)	ODAD2 (L119fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2127940	NM_018076.5(ODAD2):c.480T>C (p.Asp160=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2122741	NM_018076.5(ODAD2):c.2098-7C>G	ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2119260	NM_018076.5(ODAD2):c.784A>C (p.Ile262Leu)	ODAD2 (I262L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2115298	NM_018076.5(ODAD2):c.2038A>C (p.Lys680Gln)	ODAD2 (K372Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2083743	NM_018076.5(ODAD2):c.2946G>A (p.Ala982=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2083091	NM_018076.5(ODAD2):c.2807del (p.Asn936fs)	ODAD2 (N628fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2079718	NM_018076.5(ODAD2):c.3022-21_3022-19del	ODAD2	Microsatellite (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2077021	NM_018076.5(ODAD2):c.1298A>G (p.Asp433Gly)	ODAD2 (D125G +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2075715	NM_018076.5(ODAD2):c.2128G>A (p.Val710Ile)	ODAD2 (V710I +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2061574	NM_018076.5(ODAD2):c.781_782del (p.Cys261fs)	ODAD2 (C261fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 23	GPathogenic
Select item 2057764	NM_018076.5(ODAD2):c.1801G>A (p.Glu601Lys)	ODAD2 (E293K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GUncertain significance
Select item 2051881	NM_018076.5(ODAD2):c.224+8A>G	LOC126860891, ODAD2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 23	GLikely benign
Select item 2049256	NM_018076.5(ODAD2):c.2208A>G (p.Thr736=)	ODAD2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 23	GLikely benign

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