AGK[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359052	NM_018238.3(AGK):c.-100G>A	AGK	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359053	NM_018238.3(AGK):c.-88G>C	AGK	Single nucleotide variant	Developmental cataract +1 more	GUncertain significance
Select item 359054	NM_018238.3(AGK):c.-75G>C	AGK	Single nucleotide variant	Developmental cataract +1 more	GUncertain significance
Select item 512099	NM_018238.4(AGK):c.-36dup	AGK	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 359055	NM_018238.4(AGK):c.-36G>A	AGK	Single nucleotide variant (5 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 516089	NM_018238.4(AGK):c.-33G>A	AGK	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1329573	NM_018238.4(AGK):c.-15+31C>G	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669749	NM_018238.4(AGK):c.-14-269A>G	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383284	NM_018238.4(AGK):c.-14-3T>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 3030949	NM_018238.4(AGK):c.-9C>G	AGK	Single nucleotide variant (5 prime UTR variant)	AGK-related disorder	GLikely benign
Select item 214076	NM_018238.4(AGK):c.3G>C (p.Met1Ile)	AGK (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 214064	NM_018238.4(AGK):c.17A>G (p.Lys6Arg)	AGK (K6R)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GBenign/Likely benign
Select item 1300582	NM_018238.4(AGK):c.20C>T (p.Thr7Met)	AGK (T7M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382382	NM_018238.4(AGK):c.21G>A (p.Thr7=)	AGK	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2430905	NM_018238.4(AGK):c.25C>A (p.Arg9=)	AGK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1914862	NM_018238.4(AGK):c.26G>C (p.Arg9Pro)	AGK (R9P)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 703559	NM_018238.4(AGK):c.26G>A (p.Arg9Gln)	AGK (R9Q)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GLikely benign
Select item 214077	NM_018238.4(AGK):c.29A>G (p.Asn10Ser)	AGK (N10S)	Single nucleotide variant (missense variant)	Cataract 38 +3 more	GConflicting classifications of pathogenicity
Select item 393164	NM_018238.4(AGK):c.33C>A (p.His11Gln)	AGK (H11Q)	Single nucleotide variant (missense variant)	not provided	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 909780	NM_018238.4(AGK):c.55C>T (p.Leu19Phe)	AGK (L19F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1571111	NM_018238.4(AGK):c.63G>C (p.Leu21=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 800899	NM_018238.4(AGK):c.72G>A (p.Trp24Ter)	AGK (W24*)	Single nucleotide variant (nonsense)	Sengers syndrome	GPathogenic
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 2142050	NM_018238.4(AGK):c.80A>C (p.His27Pro)	AGK (H27P)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 3095671	NM_018238.4(AGK):c.91G>A (p.Gly31Arg)	AGK (G31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414173	NM_018238.4(AGK):c.101+4_101+7dup	AGK	Duplication (splice donor variant)	Sengers syndrome +1 more	GLikely benign
Select item 136318	NM_018238.4(AGK):c.101+5C>T	AGK	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1175770	NM_018238.4(AGK):c.101+7A>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2936706	NM_018238.4(AGK):c.101+13C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 1239143	NM_018238.4(AGK):c.101+242A>G	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191896	NM_018238.4(AGK):c.102-181_102-165del	AGK	Deletion (intron variant)	not provided	GLikely benign
Select item 280668	NM_018238.4(AGK):c.102-1G>T	AGK	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 214073	NM_018238.4(AGK):c.108C>A (p.Asn36Lys)	AGK (N36K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430806	NM_018238.4(AGK):c.124G>C (p.Ala42Pro)	AGK (A42P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30823	NM_018238.4(AGK):c.141+2T>C	AGK	Single nucleotide variant (splice donor variant)	Sengers syndrome	GPathogenic
Select item 2003013	NM_018238.4(AGK):c.141+16del	AGK	Deletion (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 1205555	NM_018238.4(AGK):c.141+201C>T	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213202	NM_018238.4(AGK):c.141+267C>T	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2499061	NM_018238.4(AGK):c.142-1664G>A	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218766	NM_018238.4(AGK):c.142-235_142-232del	AGK	Deletion (intron variant)	not provided	GLikely benign
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 2947033	NM_018238.4(AGK):c.142-10del	AGK	Deletion (intron variant)	Sengers syndrome +1 more	GBenign
Select item 1650411	NM_018238.4(AGK):c.142-11T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2925153	NM_018238.4(AGK):c.142-8T>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2159007	NM_018238.4(AGK):c.142-4T>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 1973711	NM_018238.4(AGK):c.145T>G (p.Phe49Val)	AGK (F49V)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1717273	NM_018238.4(AGK):c.173C>T (p.Ala58Val)	AGK (A58V)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2154530	NM_018238.4(AGK):c.174A>G (p.Ala58=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 214074	NM_018238.4(AGK):c.186G>T (p.Lys62Asn)	AGK (K62N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1903054	NM_018238.4(AGK):c.190A>G (p.Thr64Ala)	AGK (T64A)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1513513	NM_018238.4(AGK):c.203A>G (p.Asn68Ser)	AGK (N68S)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1963122	NM_018238.4(AGK):c.212C>T (p.Ala71Val)	AGK (A71V)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 910680	NM_018238.4(AGK):c.217A>G (p.Lys73Glu)	AGK (K73E)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 1461965	NM_018238.4(AGK):c.221+9G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
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 2424641	NM_018238.4(AGK):c.222-20A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 1593735	NM_018238.4(AGK):c.222-13C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2101669	NM_018238.4(AGK):c.222-3C>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GUncertain significance
Select item 523069	NM_018238.4(AGK):c.223A>G (p.Lys75Glu)	AGK (K75E)	Single nucleotide variant (missense variant)	AGK-related disorder	GUncertain significance
Select item 2557910	NM_018238.4(AGK):c.232A>T (p.Thr78Ser)	AGK (T78S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2141788	NM_018238.4(AGK):c.241G>A (p.Glu81Lys)	AGK (E81K)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 706412	NM_018238.4(AGK):c.243A>G (p.Glu81=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2352100	NM_018238.4(AGK):c.244A>G (p.Lys82Glu)	AGK (K82E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 535810	NM_018238.4(AGK):c.257C>G (p.Pro86Arg)	AGK (P86R)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2658094	NM_018238.4(AGK):c.258G>A (p.Pro86=)	AGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178888	NM_018238.4(AGK):c.267T>C (p.His89=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2231180	NM_018238.4(AGK):c.277A>G (p.Met93Val)	AGK (M93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2010322	NM_018238.4(AGK):c.287C>T (p.Thr96Ile)	AGK (T96I)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
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 429694	NM_018238.4(AGK):c.297+2T>C	AGK	Single nucleotide variant (splice donor variant)	Cataract 38 +2 more	GPathogenic
Select item 910681	NM_018238.4(AGK):c.297+3A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 377452	NM_018238.4(AGK):c.297+18A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GBenign/Likely benign
Select item 672808	NM_018238.4(AGK):c.298-194C>T	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212386	NM_018238.4(AGK):c.298-106G>A	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2936319	NM_018238.4(AGK):c.298-18G>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 1920846	NM_018238.4(AGK):c.298-18G>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 488464	NM_018238.4(AGK):c.298-2A>G	AGK	Single nucleotide variant (splice acceptor variant)	Sengers syndrome	GPathogenic
Select item 30828	NM_018238.4(AGK):c.306T>G (p.Tyr102Ter)	AGK (Y102*)	Single nucleotide variant (nonsense)	Sengers syndrome	GPathogenic
Select item 512456	NM_018238.4(AGK):c.327C>T (p.Leu109=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +2 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 389396	NM_018238.4(AGK):c.331G>C (p.Glu111Gln)	AGK (E111Q)	Single nucleotide variant (missense variant)	Cataract 38 +3 more	GUncertain significance
Select item 2442467	NM_018238.4(AGK):c.339G>A (p.Met113Ile)	AGK (M113I)	Single nucleotide variant (missense variant)	not provided	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 3095651	NM_018238.4(AGK):c.347C>T (p.Thr116Met)	AGK (T116M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756126	NM_018238.4(AGK):c.348G>A (p.Thr116=)	AGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154522	NM_018238.4(AGK):c.352G>A (p.Val118Met)	AGK (V118M)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2921399	NM_018238.4(AGK):c.356dup (p.Ile120fs)	AGK (I120fs)	Duplication (frameshift variant)	Cataract 38 +1 more	GPathogenic
Select item 910682	NM_018238.4(AGK):c.355A>G (p.Ile119Val)	AGK (I119V)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
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 987519	NM_018238.4(AGK):c.390G>A (p.Glu130=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome	GLikely pathogenic
Select item 521660	NM_018238.4(AGK):c.390+1G>T	AGK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 467793	NM_018238.4(AGK):c.390+1G>A	AGK	Single nucleotide variant (splice donor variant)	Sengers syndrome	GLikely pathogenic
Select item 1260432	NM_018238.4(AGK):c.391-59C>A	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1592711	NM_018238.4(AGK):c.391-13A>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign

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