C3553494[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 703559	NM_018238.4(AGK):c.26G>A (p.Arg9Gln)	AGK (R9Q)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GBenign/Likely benign
Select item 909780	NM_018238.4(AGK):c.55C>T (p.Leu19Phe)	AGK (L19F)	Single nucleotide variant (missense variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
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 910681	NM_018238.4(AGK):c.297+3A>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GUncertain significance
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 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 359057	NM_018238.4(AGK):c.424-5C>T	AGK	Single nucleotide variant (intron variant)	AGK-related condition +3 more	GBenign/Likely benign
Select item 359058	NM_018238.4(AGK):c.424-4C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GBenign
Select item 911913	NM_018238.4(AGK):c.511A>G (p.Lys171Glu)	AGK (K171E)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 908978	NM_018238.4(AGK):c.619A>G (p.Thr207Ala)	AGK (T207A)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GConflicting classifications of pathogenicity
Select item 359060	NM_018238.4(AGK):c.637T>C (p.Ser213Pro)	AGK (S213P)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 514781	NM_018238.4(AGK):c.684G>A (p.Gly228=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 214067	NM_018238.4(AGK):c.727-9C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +3 more	GConflicting classifications of pathogenicity
Select item 908979	NM_018238.4(AGK):c.742C>T (p.His248Tyr)	AGK (H248Y)	Single nucleotide variant (missense variant)	not provided +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 +2 more	GUncertain significance
Select item 359062	NM_018238.4(AGK):c.763A>G (p.Thr255Ala)	AGK (T255A)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 214068	NM_018238.4(AGK):c.803C>A (p.Thr268Asn)	AGK (T268N)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 359063	NM_018238.4(AGK):c.804C>T (p.Thr268=)	AGK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely 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)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 381287	NM_018238.4(AGK):c.877+15G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 359064	NM_018238.4(AGK):c.963G>A (p.Gln321=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 911967	NM_018238.4(AGK):c.976-9C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GConflicting classifications of pathogenicity
Select item 359065	NM_018238.4(AGK):c.1052G>A (p.Arg351Gln)	AGK (R351Q)	Single nucleotide variant (missense variant)	Cataract 38 +2 more	GUncertain significance
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 359066	NM_018238.4(AGK):c.1098C>T (p.Leu366=)	AGK	Single nucleotide variant (synonymous 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)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 909035	NM_018238.4(AGK):c.*58G>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GLikely benign
Select item 909036	NM_018238.4(AGK):c.*97G>T	AGK	Single nucleotide variant (3 prime UTR variant)	Sengers syndrome +1 more	GUncertain significance
Select item 909037	NM_018238.4(AGK):c.*125C>T	AGK	Single nucleotide variant (3 prime UTR variant)	Sengers syndrome +1 more	GUncertain significance
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 909896	NM_018238.4(AGK):c.*197C>T	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 909897	NM_018238.4(AGK):c.*231C>T	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 910799	NM_018238.4(AGK):c.*241A>G	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359069	NM_018238.4(AGK):c.*265G>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
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
Select item 910800	NM_018238.4(AGK):c.*364C>G	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359073	NM_018238.4(AGK):c.*365G>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 912010	NM_018238.4(AGK):c.*621T>C	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 912011	NM_018238.4(AGK):c.*662A>G	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 909096	NM_018238.4(AGK):c.*754G>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 909097	NM_018238.4(AGK):c.*758T>C	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359075	NM_018238.4(AGK):c.*933C>T	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359076	NM_018238.4(AGK):c.*967T>C	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359077	NM_018238.4(AGK):c.*992G>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GLikely benign
Select item 909952	NM_018238.4(AGK):c.*1006T>C	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359078	NM_018238.4(AGK):c.*1024C>T	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 909953	NM_018238.4(AGK):c.*1067T>G	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 909954	NM_018238.4(AGK):c.*1126T>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359079	NM_018238.4(AGK):c.*1127C>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359080	NM_018238.4(AGK):c.*1175C>T	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GBenign
Select item 359081	NM_018238.4(AGK):c.*1210A>T	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GBenign
Select item 359083	NM_018238.4(AGK):c.*1237G>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359084	NM_018238.4(AGK):c.*1301C>T	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 359086	NM_018238.4(AGK):c.*1319G>A	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GUncertain significance
Select item 912069	NM_018238.4(AGK):c.*1467T>C	AGK	Single nucleotide variant (3 prime UTR variant)	Cataract 38 +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60