"GeneDx"[submitter] AND "AGK"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	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 512099	NM_018238.4(AGK):c.-36dup	AGK	Duplication (5 prime UTR variant)	not specified	GLikely benign
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 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 2430905	NM_018238.4(AGK):c.25C>A (p.Arg9=)	AGK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 214077	NM_018238.4(AGK):c.29A>G (p.Asn10Ser)	AGK (N10S)	Single nucleotide variant (missense variant)	not provided +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 136318	NM_018238.4(AGK):c.101+5C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +3 more	GBenign
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 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 1218766	NM_018238.4(AGK):c.142-235_142-232del	AGK	Deletion (intron variant)	not provided	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 429694	NM_018238.4(AGK):c.297+2T>C	AGK	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
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 512456	NM_018238.4(AGK):c.327C>T (p.Leu109=)	AGK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1260432	NM_018238.4(AGK):c.391-59C>A	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 209130	NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	AGK (R137*)	Single nucleotide variant (nonsense)	Sengers syndrome +3 more	GPathogenic
Select item 467794	NM_018238.4(AGK):c.416C>G (p.Thr139Arg)	AGK (T139R)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GLikely benign
Select item 1185701	NM_018238.4(AGK):c.423+182G>A	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420477	NM_018238.4(AGK):c.424-3dup	AGK	Duplication (intron variant)	Sengers syndrome +2 more	GBenign
Select item 359056	NM_018238.4(AGK):c.424-11T>C	AGK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1194271	NM_018238.4(AGK):c.424-5C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GLikely benign
Select item 359057	NM_018238.4(AGK):c.424-5C>T	AGK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 703335	NM_018238.4(AGK):c.424-4C>A	AGK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 359058	NM_018238.4(AGK):c.424-4C>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GBenign/Likely benign
Select item 1198422	NM_018238.4(AGK):c.445A>G (p.Ile149Val)	AGK (I149V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 381290	NM_018238.4(AGK):c.498C>T (p.Ala166=)	AGK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 214066	NM_018238.4(AGK):c.518+18G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GBenign
Select item 673701	NM_018238.4(AGK):c.518+35G>T	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261476	NM_018238.4(AGK):c.518+81del	AGK	Deletion (intron variant)	not provided	GBenign
Select item 1218529	NM_018238.4(AGK):c.519-97TG[6]	AGK	Microsatellite (intron variant)	not provided	GLikely benign
Select item 798166	NM_018238.4(AGK):c.519-4_519-3del	AGK	Deletion (intron variant)	Cataract 38 +2 more	GLikely benign
Select item 391661	NM_018238.4(AGK):c.519-5T>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GLikely benign
Select item 669756	NM_018238.4(AGK):c.588+211A>T	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180933	NM_018238.4(AGK):c.588+307del	AGK	Deletion (intron variant)	not provided	GLikely benign
Select item 1259927	NM_018238.4(AGK):c.589-266A>C	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511478	NM_018238.4(AGK):c.589-20G>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GLikely benign
Select item 390400	NM_018238.4(AGK):c.589-18A>G	AGK	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 514265	NM_018238.4(AGK):c.621C>T (p.Thr207=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +2 more	GLikely benign
Select item 669757	NM_018238.4(AGK):c.669-212G>A	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383922	NM_018238.4(AGK):c.671A>G (p.Tyr224Cys)	AGK (Y224C)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GUncertain significance
Select item 871496	NM_018238.4(AGK):c.672C>A (p.Tyr224Ter)	AGK (Y224*)	Single nucleotide variant (nonsense)	Cataract 38 +2 more	GPathogenic
Select item 514781	NM_018238.4(AGK):c.684G>A (p.Gly228=)	AGK	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 669460	NM_018238.4(AGK):c.726+157G>A	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669758	NM_018238.4(AGK):c.726+187T>C	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214067	NM_018238.4(AGK):c.727-9C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 908979	NM_018238.4(AGK):c.742C>T (p.His248Tyr)	AGK (H248Y)	Single nucleotide variant (missense variant)	Sengers syndrome +3 more	GUncertain significance
Select item 359061	NM_018238.4(AGK):c.743A>C (p.His248Pro)	AGK (H248P)	Single nucleotide variant (missense variant)	Cataract 38 +3 more	GUncertain significance
Select item 1219004	NM_018238.4(AGK):c.764C>T (p.Thr255Met)	AGK (T255M)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GUncertain significance
Select item 359063	NM_018238.4(AGK):c.804C>T (p.Thr268=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +2 more	GBenign/Likely benign
Select item 30829	NM_018238.4(AGK):c.841C>T (p.Arg281Ter)	AGK (R281*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 214069	NM_018238.4(AGK):c.851C>T (p.Ala284Val)	AGK (A284V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 214070	NM_018238.4(AGK):c.863C>T (p.Ala288Val)	AGK (A288V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136319	NM_018238.4(AGK):c.877+14C>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 381287	NM_018238.4(AGK):c.877+15G>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1187812	NM_018238.4(AGK):c.877+179A>C	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380676	NM_018238.4(AGK):c.880C>A (p.Leu294Ile)	AGK (L294I)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 214071	NM_018238.4(AGK):c.881T>C (p.Leu294Pro)	AGK (L294P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 669760	NM_018238.4(AGK):c.976-250T>C	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197798	NM_018238.4(AGK):c.976-224dup	AGK	Duplication (intron variant)	not provided	GLikely benign
Select item 1245361	NM_018238.4(AGK):c.976-152dup	AGK	Duplication (intron variant)	not provided	GBenign
Select item 1288816	NM_018238.4(AGK):c.976-152del	AGK	Deletion (intron variant)	not provided	GBenign
Select item 1204576	NM_018238.4(AGK):c.976-167A>G	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292200	NM_018238.4(AGK):c.976-149T>C	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206846	NM_018238.4(AGK):c.976-47T>G	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386049	NM_018238.4(AGK):c.976-20A>G	AGK	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1700787	NM_018238.4(AGK):c.979A>T (p.Lys327Ter)	AGK (K327*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1189204	NM_018238.4(AGK):c.1046+266G>C	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669761	NM_018238.4(AGK):c.1047-235A>G	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280255	NM_018238.4(AGK):c.1047-2A>T	AGK	Single nucleotide variant (splice acceptor variant)	Cataract 38 +2 more	GPathogenic/Likely pathogenic
Select item 214072	NM_018238.4(AGK):c.1048A>G (p.Ser350Gly)	AGK (S350G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214063	NM_018238.4(AGK):c.1052G>C (p.Arg351Pro)	AGK (R351P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 214079	NM_018238.4(AGK):c.1088C>T (p.Thr363Met)	AGK (T363M)	Single nucleotide variant (missense variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 377453	NM_018238.4(AGK):c.1131+11A>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 1216989	NM_018238.4(AGK):c.1132-272G>T	AGK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203978	NM_018238.4(AGK):c.1132-139dup	AGK	Duplication (intron variant)	not provided	GLikely benign
Select item 1232726	NM_018238.4(AGK):c.1132-40T>G	AGK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 524160	NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)	AGK (S382fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 359068	NM_018238.4(AGK):c.*141C>T	AGK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 909895	NM_018238.4(AGK):c.*184C>T	AGK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 359071	NM_018238.4(AGK):c.*320G>A	AGK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign

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Items: 100