AGK[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 397

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 1329639	NC_000007.14:g.141551244C>G	AGK, AGK-DT +1 more	Single nucleotide variant	not provided	GBenign
Select item 359050	NM_018238.3(AGK):c.-162G>A	AGK, AGK-DT +1 more	Single nucleotide variant (non-coding transcript variant)	Developmental cataract +1 more	GUncertain significance
Select item 359051	NM_018238.3(AGK):c.-139G>A	AGK, AGK-DT	Single nucleotide variant (non-coding transcript variant)	Developmental cataract +1 more	GUncertain significance
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

<< First< Prev

Page of 4