ClinVar for Gene (Select 9187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359131	NM_004727.3(SLC24A1):c.642dup (p.Thr215fs)	SLC24A1 (T215fs)	Duplication (frameshift variant)	Congenital stationary night blindness autosomal dominant 2	GPathogenic
Select item 3319163	NM_004727.3(SLC24A1):c.1967G>A (p.Gly656Glu)	SLC24A1 (G656E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319161	NM_004727.3(SLC24A1):c.1576G>A (p.Gly526Ser)	SLC24A1 (G526S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319160	NM_004727.3(SLC24A1):c.2221C>A (p.Pro741Thr)	SLC24A1 (P723T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319159	NM_004727.3(SLC24A1):c.326A>G (p.Glu109Gly)	SLC24A1 (E109G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163530	NM_004727.3(SLC24A1):c.860T>G (p.Val287Gly)	SLC24A1 (V287G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163529	NM_004727.3(SLC24A1):c.790G>A (p.Val264Ile)	SLC24A1 (V264I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163528	NM_004727.3(SLC24A1):c.701C>G (p.Thr234Ser)	SLC24A1 (T234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163526	NM_004727.3(SLC24A1):c.530A>G (p.Tyr177Cys)	SLC24A1 (Y177C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163525	NM_004727.3(SLC24A1):c.2899G>A (p.Gly967Arg)	SLC24A1 (G853R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163524	NM_004727.3(SLC24A1):c.2766G>C (p.Trp922Cys)	SLC24A1 (W922C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163523	NM_004727.3(SLC24A1):c.2288C>G (p.Thr763Ser)	SLC24A1 (T90S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163522	NM_004727.3(SLC24A1):c.1633C>T (p.Leu545Phe)	SLC24A1 (L545F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163521	NM_004727.3(SLC24A1):c.1606A>T (p.Ile536Phe)	SLC24A1 (I536F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163520	NM_004727.3(SLC24A1):c.1214C>T (p.Thr405Ile)	SLC24A1 (T405I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038326	NM_004727.3(SLC24A1):c.1759CTG[4] (p.Leu591del)	SLC24A1 (L591del)	Microsatellite	SLC24A1-related disorder	GLikely benign
Select item 3033223	NM_004727.3(SLC24A1):c.3015C>T (p.Ser1005=)	SLC24A1	Single nucleotide variant (synonymous variant)	SLC24A1-related disorder	GLikely benign
Select item 3025666	NM_004727.3(SLC24A1):c.2625G>A (p.Glu875=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003440	NM_004727.3(SLC24A1):c.666C>T (p.Asp222=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002578	NM_004727.3(SLC24A1):c.294C>T (p.Gly98=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998398	NM_004727.3(SLC24A1):c.1944+20T>C	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996229	NM_004727.3(SLC24A1):c.432C>T (p.Thr144=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991252	NM_004727.3(SLC24A1):c.2140+19C>T	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986615	NM_004727.3(SLC24A1):c.152G>A (p.Trp51Ter)	SLC24A1 (W51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2985925	NM_004727.3(SLC24A1):c.2802G>A (p.Arg934=)	SLC24A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985840	NM_004727.3(SLC24A1):c.353C>G (p.Thr118Arg)	SLC24A1 (T118R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2980958	NM_004727.3(SLC24A1):c.2983C>T (p.Arg995Ter)	SLC24A1 (R881* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979833	NM_004727.3(SLC24A1):c.1056C>A (p.Thr352=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976049	NM_004727.3(SLC24A1):c.3050+11A>G	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962893	NM_004727.3(SLC24A1):c.1233C>T (p.Leu411=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955024	NM_004727.3(SLC24A1):c.1617C>T (p.Val539=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915211	NM_004727.3(SLC24A1):c.2910A>G (p.Glu970=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907607	NM_004727.3(SLC24A1):c.2634G>A (p.Gln878=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907606	NM_004727.3(SLC24A1):c.2628A>G (p.Glu876=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872244	NM_004727.3(SLC24A1):c.1341G>A (p.Val447=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869149	NM_004727.3(SLC24A1):c.2923C>T (p.Leu975=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790063	NM_004727.3(SLC24A1):c.2250C>T (p.Ala750=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784615	NM_004727.3(SLC24A1):c.2883+19C>T	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780048	NM_004727.3(SLC24A1):c.2619G>A (p.Glu873=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778628	NM_004727.3(SLC24A1):c.2883+10C>G	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757333	NM_004727.3(SLC24A1):c.3219A>G (p.Thr1073=)	SLC24A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751059	NM_004727.3(SLC24A1):c.2670G>A (p.Glu890=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749763	NM_004727.3(SLC24A1):c.1611del (p.Phe538fs)	SLC24A1 (F538fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2740935	NM_004727.3(SLC24A1):c.2514C>T (p.His838=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736224	NM_004727.3(SLC24A1):c.2679del (p.Asn893fs)	SLC24A1 (N893fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2720810	NM_004727.3(SLC24A1):c.2817C>T (p.Phe939=)	SLC24A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2706893	NM_004727.3(SLC24A1):c.252C>G (p.Ser84=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621860	NM_004727.3(SLC24A1):c.1829T>G (p.Val610Gly)	SLC24A1 (V610G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605227	NM_004727.3(SLC24A1):c.512G>A (p.Arg171Lys)	SLC24A1 (R171K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487679	NM_004727.3(SLC24A1):c.1927G>T (p.Asp643Tyr)	SLC24A1 (D643Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485422	NM_004727.3(SLC24A1):c.1949C>T (p.Pro650Leu)	SLC24A1 (P650L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471530	NM_004727.3(SLC24A1):c.2284G>A (p.Glu762Lys)	SLC24A1 (E744K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2418481	NM_004727.3(SLC24A1):c.150G>A (p.Leu50=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367358	NM_004727.3(SLC24A1):c.2631G>C (p.Glu877Asp)	SLC24A1 (E877D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335391	NM_004727.3(SLC24A1):c.1993A>G (p.Ser665Gly)	SLC24A1 (S647G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329199	NM_004727.3(SLC24A1):c.557T>G (p.Val186Gly)	SLC24A1 (V186G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327949	NM_004727.3(SLC24A1):c.199C>T (p.Leu67Phe)	SLC24A1 (L67F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317788	NM_004727.3(SLC24A1):c.2221C>T (p.Pro741Ser)	SLC24A1 (P741S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303293	NM_004727.3(SLC24A1):c.1321C>T (p.Pro441Ser)	SLC24A1 (P441S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299909	NM_004727.3(SLC24A1):c.544G>T (p.Val182Leu)	SLC24A1 (V182L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291136	NM_004727.3(SLC24A1):c.2686C>T (p.Pro896Ser)	SLC24A1 (P223S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284732	NM_004727.3(SLC24A1):c.1247T>C (p.Leu416Pro)	SLC24A1 (L416P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264743	NM_004727.3(SLC24A1):c.3122T>G (p.Leu1041Trp)	SLC24A1 (L1011W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260771	NM_004727.3(SLC24A1):c.2385A>C (p.Glu795Asp)	SLC24A1 (E777D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248721	NM_004727.3(SLC24A1):c.2313G>T (p.Glu771Asp)	SLC24A1 (E753D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245038	NM_004727.3(SLC24A1):c.3133A>G (p.Ile1045Val)	SLC24A1 (I1045V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236331	NM_004727.3(SLC24A1):c.2576G>T (p.Ser859Ile)	SLC24A1 (S186I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195727	NM_004727.3(SLC24A1):c.57G>A (p.Arg19=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185423	NM_004727.3(SLC24A1):c.3120C>G (p.Gly1040=)	SLC24A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2184790	NM_004727.3(SLC24A1):c.1473C>T (p.Ser491=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182274	NM_004727.3(SLC24A1):c.2662GAG[2] (p.Glu890del)	SLC24A1 (E776del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2178126	NM_004727.3(SLC24A1):c.2404G>A (p.Gly802Arg)	SLC24A1 (G802R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177854	NM_004727.3(SLC24A1):c.606G>A (p.Pro202=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171683	NM_004727.3(SLC24A1):c.2632_2643dup (p.Glu881_Glu882insGlnGluGluGlu)	SLC24A1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2150442	NM_004727.3(SLC24A1):c.2752G>A (p.Val918Met)	SLC24A1 (V245M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137721	NM_004727.3(SLC24A1):c.991A>T (p.Ser331Cys)	SLC24A1 (S331C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133742	NM_004727.3(SLC24A1):c.494dup (p.Tyr166fs)	SLC24A1 (Y166fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2130269	NM_004727.3(SLC24A1):c.2035C>A (p.Leu679Met)	SLC24A1 (L679M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128699	NM_004727.3(SLC24A1):c.3051-19C>G	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125505	NM_004727.3(SLC24A1):c.1672T>G (p.Leu558Val)	SLC24A1 (L558V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125249	NM_004727.3(SLC24A1):c.2465A>C (p.Lys822Thr)	SLC24A1 (K149T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115508	NM_004727.3(SLC24A1):c.1758C>T (p.Ser586=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115034	NM_004727.3(SLC24A1):c.709C>T (p.Leu237Phe)	SLC24A1 (L237F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110492	NM_004727.3(SLC24A1):c.581G>A (p.Gly194Asp)	SLC24A1 (G194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108821	NM_004727.3(SLC24A1):c.1285C>T (p.Pro429Ser)	SLC24A1 (P429S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108771	NM_004727.3(SLC24A1):c.2622G>A (p.Glu874=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106291	NM_004727.3(SLC24A1):c.1338T>G (p.Ser446Arg)	SLC24A1 (S446R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105898	NM_004727.3(SLC24A1):c.1891-17C>T	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105068	NM_004727.3(SLC24A1):c.464C>T (p.Thr155Ile)	SLC24A1 (T155I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104319	NM_004727.3(SLC24A1):c.1695C>T (p.Tyr565=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102037	NM_004727.3(SLC24A1):c.457T>G (p.Tyr153Asp)	SLC24A1 (Y153D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101409	NM_004727.3(SLC24A1):c.2168T>C (p.Val723Ala)	SLC24A1 (V705A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100514	NM_004727.3(SLC24A1):c.1286C>A (p.Pro429His)	SLC24A1 (P429H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099375	NM_004727.3(SLC24A1):c.3217A>G (p.Thr1073Ala)	SLC24A1 (T1043A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2098335	NM_004727.3(SLC24A1):c.3034T>C (p.Phe1012Leu)	SLC24A1 (F1012L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098311	NM_004727.3(SLC24A1):c.169C>T (p.His57Tyr)	SLC24A1 (H57Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096562	NM_004727.3(SLC24A1):c.3061C>T (p.Pro1021Ser)	SLC24A1 (P1003S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2095552	NM_004727.3(SLC24A1):c.1890+9A>G	SLC24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093159	NM_004727.3(SLC24A1):c.1322C>T (p.Pro441Leu)	SLC24A1 (P441L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091137	NM_004727.3(SLC24A1):c.1945-6G>C	SLC24A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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