ClinVar for MedGen (Select 395228) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245751	NC_000007.13:g.(?_141351305)_(141352724_?)del	AGK	Deletion	Cataract 38 +1 more	GPathogenic
Select item 3245750	NC_000007.13:g.(?_140434397)_(141759786_?)del	AGK, BRAF +13 more	Deletion	Cataract 38 +1 more	GPathogenic
Select item 2952828	NM_018238.4(AGK):c.409del (p.Arg137fs)	AGK (R137fs)	Deletion (frameshift variant)	Sengers syndrome +1 more	GPathogenic
Select item 2950178	NM_018238.4(AGK):c.878-17C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2949139	NM_018238.4(AGK):c.1260C>T (p.Pro420=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2947480	NM_018238.4(AGK):c.388G>T (p.Glu130Ter)	AGK (E130*)	Single nucleotide variant (nonsense)	Sengers syndrome +1 more	GPathogenic
Select item 2947275	NM_018238.4(AGK):c.519-19A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2947033	NM_018238.4(AGK):c.142-10del	AGK	Deletion (intron variant)	Sengers syndrome +1 more	GBenign
Select item 2946716	NM_018238.4(AGK):c.878-15A>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2941370	NM_018238.4(AGK):c.495T>C (p.Phe165=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2938592	NM_018238.4(AGK):c.621C>G (p.Thr207=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2938300	NM_018238.4(AGK):c.462G>A (p.Leu154=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2938194	NM_018238.4(AGK):c.788A>G (p.Asn263Ser)	AGK (N263S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2938193	NM_018238.4(AGK):c.499G>A (p.Glu167Lys)	AGK (E167K)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2937490	NM_018238.4(AGK):c.411A>T (p.Arg137=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2936706	NM_018238.4(AGK):c.101+13C>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2936406	NM_018238.4(AGK):c.877+19A>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2936346	NM_018238.4(AGK):c.424-4C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2936319	NM_018238.4(AGK):c.298-18G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2935956	NM_018238.4(AGK):c.396T>C (p.Val132=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2934928	NM_018238.4(AGK):c.975+16dup	AGK	Duplication (intron variant)	Sengers syndrome +1 more	GBenign
Select item 2934602	NM_018238.4(AGK):c.237A>G (p.Leu79=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2933196	NM_018238.4(AGK):c.1047-8G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2932145	NM_018238.4(AGK):c.424-6C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2931426	NM_018238.4(AGK):c.542C>A (p.Ala181Asp)	AGK (A181D)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2931348	NM_018238.4(AGK):c.25C>T (p.Arg9Ter)	AGK (R9*)	Single nucleotide variant (nonsense)	Sengers syndrome +1 more	GPathogenic
Select item 2930117	NM_018238.4(AGK):c.819T>C (p.Pro273=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2929186	NM_018238.4(AGK):c.257C>T (p.Pro86Leu)	AGK (P86L)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2929027	NM_018238.4(AGK):c.42A>G (p.Lys14=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2928264	NM_018238.4(AGK):c.1042A>G (p.Ile348Val)	AGK (I348V)	Single nucleotide variant (missense variant)	Cataract 38 +2 more	GUncertain significance
Select item 2926256	NM_018238.4(AGK):c.1132-10_1132-9del	AGK	Deletion (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2926189	NM_018238.4(AGK):c.221+13G>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2925210	NM_018238.4(AGK):c.424-14C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2925153	NM_018238.4(AGK):c.142-8T>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2923802	NM_018238.4(AGK):c.877+13G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2923323	NM_018238.4(AGK):c.726+18T>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2923040	NM_018238.4(AGK):c.954G>A (p.Arg318=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2921399	NM_018238.4(AGK):c.356dup (p.Ile120fs)	AGK (I120fs)	Duplication (frameshift variant)	Sengers syndrome +1 more	GPathogenic
Select item 2580922	NM_018238.4(AGK):c.628C>T (p.Arg210Ter)	AGK (R210*)	Single nucleotide variant (nonsense)	Sengers syndrome	GPathogenic
Select item 2427756	NM_018238.4(AGK):c.899C>T (p.Pro300Leu)	AGK (P300L)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2426460	NC_000007.13:g.(?_141292926)_(141293005_?)dup	AGK	Duplication	Sengers syndrome +1 more	GLikely pathogenic
Select item 2426459	NC_000007.13:g.(?_141255267)_(141352724_?)dup	AGK	Duplication	Cataract 38 +1 more	GUncertain significance
Select item 2426458	NC_000007.13:g.(?_141292926)_(141293005_?)del	AGK	Deletion	Sengers syndrome +1 more	GPathogenic
Select item 2424641	NM_018238.4(AGK):c.222-20A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2420315	NM_018238.4(AGK):c.901G>A (p.Glu301Lys)	AGK (E301K)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2414173	NM_018238.4(AGK):c.101+4_101+7dup	AGK	Duplication (splice donor variant)	Cataract 38 +1 more	GLikely benign
Select item 2200994	NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)	AGK	Single nucleotide variant (stop lost)	Sengers syndrome +1 more	GUncertain significance
Select item 2200734	NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)	AGK (P376L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2200142	NM_018238.4(AGK):c.446T>C (p.Ile149Thr)	AGK (I149T)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2198894	NM_018238.4(AGK):c.1078G>A (p.Val360Met)	AGK (V360M)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2197899	NM_018238.4(AGK):c.142-18T>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2197747	NM_018238.4(AGK):c.142-14C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2186978	NM_018238.4(AGK):c.1047-7C>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2185960	NM_018238.4(AGK):c.573T>C (p.Asp191=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2178888	NM_018238.4(AGK):c.267T>C (p.His89=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2173449	NM_018238.4(AGK):c.669-16C>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2172934	NM_018238.4(AGK):c.331G>A (p.Glu111Lys)	AGK (E111K)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2168275	NM_018238.4(AGK):c.785C>T (p.Pro262Leu)	AGK (P262L)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2167495	NM_018238.4(AGK):c.1132-13C>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2163703	NM_018238.4(AGK):c.424-3C>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2163165	NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)	AGK	Deletion (nonsense)	Sengers syndrome +1 more	GLikely pathogenic
Select item 2160398	NM_018238.4(AGK):c.80A>G (p.His27Arg)	AGK (H27R)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2159007	NM_018238.4(AGK):c.142-4T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2155013	NM_018238.4(AGK):c.1046+13G>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GBenign
Select item 2154530	NM_018238.4(AGK):c.174A>G (p.Ala58=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2154522	NM_018238.4(AGK):c.352G>A (p.Val118Met)	AGK (V118M)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2152571	NM_018238.4(AGK):c.776A>G (p.Glu259Gly)	AGK (E259G)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2149751	NM_018238.4(AGK):c.900G>A (p.Pro300=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2146194	NM_018238.4(AGK):c.654C>A (p.Gly218=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +2 more	GLikely benign
Select item 2144954	NM_018238.4(AGK):c.1236G>A (p.Lys412=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2142050	NM_018238.4(AGK):c.80A>C (p.His27Pro)	AGK (H27P)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2141788	NM_018238.4(AGK):c.241G>A (p.Glu81Lys)	AGK (E81K)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2141246	NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)	AGK (S350R)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2139953	NM_018238.4(AGK):c.726+9G>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2135115	NM_018238.4(AGK):c.519-1G>A	AGK	Single nucleotide variant (splice acceptor variant)	Sengers syndrome +1 more	GLikely pathogenic
Select item 2128329	NM_018238.4(AGK):c.423+19T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2120043	NM_018238.4(AGK):c.860G>A (p.Trp287Ter)	AGK (W287*)	Single nucleotide variant (nonsense)	Sengers syndrome +1 more	GPathogenic
Select item 2116285	NM_018238.4(AGK):c.1046+11T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2110273	NM_018238.4(AGK):c.391-6T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2101669	NM_018238.4(AGK):c.222-3C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2098348	NM_018238.4(AGK):c.1140G>A (p.Gly380=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2088824	NM_018238.4(AGK):c.391-9C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2083180	NM_018238.4(AGK):c.972G>A (p.Pro324=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2075824	NM_018238.4(AGK):c.622G>A (p.Gly208Ser)	AGK (G208S)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GUncertain significance
Select item 2075718	NM_018238.4(AGK):c.668+9T>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2073020	NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)	AGK (G349R)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2072573	NM_018238.4(AGK):c.343A>C (p.Asn115His)	AGK (N115H)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2062697	NM_018238.4(AGK):c.1175C>T (p.Ala392Val)	AGK (A392V)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2062657	NM_018238.4(AGK):c.424-6C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GUncertain significance
Select item 2056808	NM_018238.4(AGK):c.1089G>A (p.Thr363=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2049626	NM_018238.4(AGK):c.424-3del	AGK	Deletion (intron variant)	Sengers syndrome +1 more	GBenign
Select item 2045930	NM_018238.4(AGK):c.971C>T (p.Pro324Leu)	AGK (P324L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2044310	NM_018238.4(AGK):c.289A>G (p.Ile97Val)	AGK (I97V)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2042518	NM_018238.4(AGK):c.424-3C>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2037995	NM_018238.4(AGK):c.654C>T (p.Gly218=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2037994	NM_018238.4(AGK):c.1131+19G>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2037289	NM_018238.4(AGK):c.298-18G>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2033913	NM_018238.4(AGK):c.1046+7G>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2030851	NM_018238.4(AGK):c.1068C>T (p.Pro356=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2024953	NM_018238.4(AGK):c.1176G>C (p.Ala392=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign

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