ClinVar for MedGen (Select 863453) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362312	NM_145045.5(ODAD3):c.281G>A (p.Trp94Ter)	ODAD3 (W40* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 3242104	NM_145045.5(ODAD3):c.405G>A (p.Trp135Ter)	ODAD3 (W135* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 3068087	NM_145045.5(ODAD3):c.378del (p.Val127fs)	ODAD3 (V127fs +1 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 3064090	NM_145045.5(ODAD3):c.787G>T (p.Glu263Ter)	ODAD3 (E203* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 3064081	NM_145045.5(ODAD3):c.244+1G>A	ODAD3	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 3018566	NM_145045.5(ODAD3):c.715-6C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 3015694	NM_145045.5(ODAD3):c.183T>C (p.Gly61=)	ODAD3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2994435	NM_145045.5(ODAD3):c.612+20G>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2991253	NM_145045.5(ODAD3):c.244+5G>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 2974472	NM_145045.5(ODAD3):c.841-20C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2921012	NM_145045.5(ODAD3):c.694C>T (p.Gln232Ter)	ODAD3 (Q178* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 2919561	NM_145045.5(ODAD3):c.445-19G>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2914969	NM_145045.5(ODAD3):c.1590+8G>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2911710	NM_145045.5(ODAD3):c.320G>T (p.Arg107Leu)	ODAD3 (R107L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2911230	NM_145045.5(ODAD3):c.1675+11G>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2909220	NM_145045.5(ODAD3):c.138G>A (p.Gln46=)	ODAD3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2906318	NM_145045.5(ODAD3):c.714+8C>G	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2905971	NM_145045.5(ODAD3):c.1137G>A (p.Leu379=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2903951	NM_145045.5(ODAD3):c.1164G>A (p.Leu388=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2899322	NM_145045.5(ODAD3):c.1287A>G (p.Lys429=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2892450	NM_145045.5(ODAD3):c.1295C>G (p.Ala432Gly)	ODAD3 (A432G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2885350	NM_145045.5(ODAD3):c.874C>T (p.Arg292Ter)	ODAD3 (R232* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 30	GPathogenic
Select item 2882265	NM_145045.5(ODAD3):c.900C>T (p.Tyr300=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2878396	NM_145045.5(ODAD3):c.963+9A>G	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2876868	NM_145045.5(ODAD3):c.1435-19G>C	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2868667	NM_145045.5(ODAD3):c.1239G>A (p.Leu413=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2866377	NM_145045.5(ODAD3):c.714+15G>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2866357	NM_145045.5(ODAD3):c.714+18T>C	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2863183	NM_145045.5(ODAD3):c.522del (p.Gln175fs)	ODAD3 (Q149fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 30	GPathogenic
Select item 2862704	NM_145045.5(ODAD3):c.903_906del (p.Ile301fs)	ODAD3 (I247fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 30	GPathogenic
Select item 2859102	NM_145045.5(ODAD3):c.1713C>T (p.Thr571=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2857451	NM_145045.5(ODAD3):c.367-9T>C	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2854929	NM_145045.5(ODAD3):c.1002C>T (p.Thr334=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2849781	NM_145045.5(ODAD3):c.1314C>T (p.Leu438=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2846777	NM_145045.5(ODAD3):c.1519C>T (p.Leu507=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2846742	NM_145045.5(ODAD3):c.245-17C>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2842639	NM_145045.5(ODAD3):c.445-13C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2821009	NM_145045.5(ODAD3):c.819C>A (p.Leu273=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2818289	NM_145045.5(ODAD3):c.1605A>G (p.Leu535=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2806882	NM_145045.5(ODAD3):c.1653C>T (p.Ala551=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2798341	NM_145045.5(ODAD3):c.1675+12T>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2789962	NM_145045.5(ODAD3):c.189G>C (p.Gly63=)	ODAD3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2760725	NM_145045.5(ODAD3):c.321C>A (p.Arg107=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2755194	NM_145045.5(ODAD3):c.49C>T (p.Gln17Ter)	ODAD3 (Q17*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 30	GPathogenic
Select item 2754088	NM_145045.5(ODAD3):c.1213G>A (p.Glu405Lys)	ODAD3 (E351K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2745527	NM_145045.5(ODAD3):c.749C>T (p.Ser250Phe)	ODAD3 (S196F +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2734286	NM_145045.5(ODAD3):c.852G>A (p.Gln284=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2733869	NM_145045.5(ODAD3):c.1435-15C>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2733122	NM_145045.5(ODAD3):c.118C>T (p.Arg40Ter)	ODAD3 (R40*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 30	GPathogenic
Select item 2732219	NM_145045.5(ODAD3):c.1435-16T>C	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2731247	NM_145045.5(ODAD3):c.1117-5C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2728235	NM_145045.5(ODAD3):c.1500G>A (p.Leu500=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2717219	NM_145045.5(ODAD3):c.1602C>T (p.Ser534=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2715876	NM_145045.5(ODAD3):c.1104T>C (p.Thr368=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2711365	NM_145045.5(ODAD3):c.987A>G (p.Leu329=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2709874	NM_145045.5(ODAD3):c.444+15G>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2700947	NM_145045.5(ODAD3):c.444+5G>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2697887	NM_145045.5(ODAD3):c.1389G>A (p.Lys463=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2695507	NM_145045.5(ODAD3):c.708T>G (p.Tyr236Ter)	ODAD3 (Y182* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 30	GPathogenic
Select item 2688725	NM_145045.5(ODAD3):c.1116+1G>T	ODAD3	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2439786	NM_145045.5(ODAD3):c.556A>G (p.Ser186Gly)	ODAD3 (S132G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GConflicting classifications of pathogenicity
Select item 2423535	NM_145045.5(ODAD3):c.972C>T (p.Arg324=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2420422	NM_145045.5(ODAD3):c.613-20C>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2417273	NM_145045.5(ODAD3):c.599C>T (p.Thr200Met)	ODAD3 (T146M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2202454	NM_145045.5(ODAD3):c.1647C>T (p.Pro549=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2202071	NM_145045.5(ODAD3):c.924C>T (p.Ala308=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2199516	NM_145045.5(ODAD3):c.670G>A (p.Glu224Lys)	ODAD3 (E170K +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2198199	NM_145045.5(ODAD3):c.1557G>A (p.Val519=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2197435	NM_145045.5(ODAD3):c.1675+18dup	ODAD3	Duplication (intron variant)	Primary ciliary dyskinesia 30	GBenign
Select item 2196717	NM_145045.5(ODAD3):c.133G>A (p.Ala45Thr)	ODAD3 (A45T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2194677	NM_145045.5(ODAD3):c.1116+14G>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2185559	NM_145045.5(ODAD3):c.351G>C (p.Leu117=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2185494	NM_145045.5(ODAD3):c.634C>A (p.Arg212Ser)	ODAD3 (R158S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2183675	NM_145045.5(ODAD3):c.1440C>T (p.Asp480=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2178088	NM_145045.5(ODAD3):c.367-19T>C	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2175194	NM_145045.5(ODAD3):c.1246C>T (p.Leu416Phe)	ODAD3 (L362F +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2165559	NM_145045.5(ODAD3):c.1130G>A (p.Arg377Gln)	ODAD3 (R317Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2164986	NM_145045.5(ODAD3):c.457C>T (p.Leu153=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2158827	NM_145045.5(ODAD3):c.1029G>A (p.Glu343=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2158089	NM_145045.5(ODAD3):c.613-18_613-14del	ODAD3	Microsatellite (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2152128	NM_145045.5(ODAD3):c.61T>G (p.Ser21Ala)	ODAD3 (S21A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 30 +1 more	GUncertain significance
Select item 2151744	NM_145045.5(ODAD3):c.456C>G (p.His152Gln)	ODAD3 (H152Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2149536	NM_145045.5(ODAD3):c.317T>C (p.Leu106Pro)	ODAD3 (L106P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2149264	NM_145045.5(ODAD3):c.1435-20C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2148110	NM_145045.5(ODAD3):c.1057T>C (p.Tyr353His)	ODAD3 (Y293H +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2145700	NM_145045.5(ODAD3):c.445-20C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2144993	NM_145045.5(ODAD3):c.458T>G (p.Leu153Arg)	ODAD3 (L99R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GUncertain significance
Select item 2144627	NM_145045.5(ODAD3):c.925GAG[1] (p.Glu310del)	ODAD3 (E256del +2 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2142907	NM_145045.5(ODAD3):c.515T>C (p.Val172Ala)	ODAD3 (V146A +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2140878	NM_145045.5(ODAD3):c.23C>T (p.Ala8Val)	ODAD3 (A8V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2140004	NM_145045.5(ODAD3):c.938_939del (p.Leu313fs)	ODAD3 (L313fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 30	GPathogenic
Select item 2138721	NM_145045.5(ODAD3):c.908A>G (p.Glu303Gly)	ODAD3 (E243G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2117896	NM_145045.5(ODAD3):c.1180G>A (p.Glu394Lys)	ODAD3 (E394K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2107459	NM_145045.5(ODAD3):c.1195T>C (p.Leu399=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2097099	NM_145045.5(ODAD3):c.1559A>C (p.Gln520Pro)	ODAD3 (Q466P +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2094742	NM_145045.5(ODAD3):c.1088A>G (p.Lys363Arg)	ODAD3 (K303R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2085036	NM_145045.5(ODAD3):c.1590+9C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2079023	NM_145045.5(ODAD3):c.1429A>G (p.Thr477Ala)	ODAD3 (T417A +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2078486	NM_145045.5(ODAD3):c.1107C>G (p.Asp369Glu)	ODAD3 (D309E +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2077749	NM_145045.5(ODAD3):c.1670T>G (p.Phe557Cys)	ODAD3 (F503C +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GUncertain significance

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