C0344559[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 899093	NM_000104.4(CYP1B1):c.*3086T>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335907	NM_000104.4(CYP1B1):c.*3078G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899094	NM_000104.4(CYP1B1):c.*3064A>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 899095	NM_000104.4(CYP1B1):c.*3024T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 894966	NM_000104.4(CYP1B1):c.*2760C>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335908	NM_000104.4(CYP1B1):c.*2660T>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 894967	NM_000104.4(CYP1B1):c.*2597A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335909	NM_000104.4(CYP1B1):c.*2499T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 896404	NM_000104.4(CYP1B1):c.*2498T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335910	NM_000104.4(CYP1B1):c.*2409A>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GBenign
Select item 335911	NM_000104.4(CYP1B1):c.*2371T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GLikely benign
Select item 335912	NM_000104.4(CYP1B1):c.*2349G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335913	NM_000104.4(CYP1B1):c.*2333G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335914	NM_000104.4(CYP1B1):c.*2314dup	CYP1B1	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 898034	NM_000104.4(CYP1B1):c.*2304A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898035	NM_000104.4(CYP1B1):c.*2289G>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898036	NM_000104.4(CYP1B1):c.*2261A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GLikely benign
Select item 898037	NM_000104.4(CYP1B1):c.*2209A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335915	NM_000104.4(CYP1B1):c.*2207G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335916	NM_000104.4(CYP1B1):c.*2158T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GLikely benign
Select item 335917	NM_000104.4(CYP1B1):c.*2151T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 899149	NM_000104.4(CYP1B1):c.*1961G>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899150	NM_000104.4(CYP1B1):c.*1956A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335918	NM_000104.4(CYP1B1):c.*1938G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 895026	NM_000104.4(CYP1B1):c.*1910A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895027	NM_000104.4(CYP1B1):c.*1908G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335919	NM_000104.4(CYP1B1):c.*1895C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335920	NM_000104.4(CYP1B1):c.*1871C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GBenign
Select item 896465	NM_000104.4(CYP1B1):c.*1853G>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 896466	NM_000104.4(CYP1B1):c.*1798T>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335921	NM_000104.4(CYP1B1):c.*1781T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898093	NM_000104.4(CYP1B1):c.*1766G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898094	NM_000104.4(CYP1B1):c.*1746T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335922	NM_000104.4(CYP1B1):c.*1730A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898095	NM_000104.4(CYP1B1):c.*1683A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 899214	NM_000104.4(CYP1B1):c.*1611G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335923	NM_000104.4(CYP1B1):c.*1601C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899215	NM_000104.4(CYP1B1):c.*1561A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899216	NM_000104.4(CYP1B1):c.*1544G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335924	NM_000104.4(CYP1B1):c.*1491G>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335925	NM_000104.4(CYP1B1):c.*1460A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335926	NM_000104.4(CYP1B1):c.*1450T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 895097	NM_000104.4(CYP1B1):c.*1346A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335927	NM_000104.4(CYP1B1):c.*1269T>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335928	NM_000104.4(CYP1B1):c.*1173del	CYP1B1	Deletion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335929	NM_000104.4(CYP1B1):c.*1141A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335930	NM_000104.4(CYP1B1):c.*1079C>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335931	NM_000104.4(CYP1B1):c.*1075G>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335932	NM_000104.4(CYP1B1):c.*1062G>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898166	NM_000104.4(CYP1B1):c.*1056G>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335933	NM_000104.4(CYP1B1):c.*1027del	CYP1B1	Deletion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335934	NM_000104.4(CYP1B1):c.*1005C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335935	NM_000104.4(CYP1B1):c.*981T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 898167	NM_000104.4(CYP1B1):c.*980A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335936	NM_000104.4(CYP1B1):c.*975A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GBenign
Select item 899268	NM_000104.4(CYP1B1):c.*972T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 899269	NM_000104.4(CYP1B1):c.*945C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895176	NM_000104.4(CYP1B1):c.*926A>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GLikely benign
Select item 895177	NM_000104.4(CYP1B1):c.*917G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335937	NM_000104.4(CYP1B1):c.*879del	CYP1B1	Deletion (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 335938	NM_000104.4(CYP1B1):c.*867dup	CYP1B1	Duplication (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 895178	NM_000104.4(CYP1B1):c.*864T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335939	NM_000104.4(CYP1B1):c.*695G>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GBenign
Select item 896596	NM_000104.4(CYP1B1):c.*688T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335940	NM_000104.4(CYP1B1):c.*661T>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335941	NM_000104.4(CYP1B1):c.*493G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335942	NM_000104.4(CYP1B1):c.*466G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335943	NM_000104.4(CYP1B1):c.*380G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335944	NM_000104.4(CYP1B1):c.*350C>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GBenign
Select item 899330	NM_000104.4(CYP1B1):c.*233A>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335945	NM_000104.4(CYP1B1):c.*210dup	CYP1B1	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +2 more	GBenign
Select item 335946	NM_000104.4(CYP1B1):c.*118C>G	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335947	NM_000104.4(CYP1B1):c.*115G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335948	NM_000104.4(CYP1B1):c.*105C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895235	NM_000104.4(CYP1B1):c.*43C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 895236	NM_000104.4(CYP1B1):c.1593T>G (p.Ser531Arg)	CYP1B1 (S531R)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 501002	NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)	CYP1B1	Single nucleotide variant (synonymous variant)	CYP1B1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 335949	NM_000104.4(CYP1B1):c.1474G>A (p.Asp492Asn)	CYP1B1 (D492N)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335950	NM_000104.4(CYP1B1):c.1406G>A (p.Arg469Gln)	CYP1B1, LOC128772254 (R469Q)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 166970	NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 6 +5 more	GBenign
Select item 897127	NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr)	CYP1B1, LOC128772254 (D449Y)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 92435	NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)	CYP1B1, LOC128772254 (A443G)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 897128	NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys)	CYP1B1, LOC128772254 (F440C)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GUncertain significance
Select item 335951	NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg)	CYP1B1 (H401R)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335952	NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	CYP1B1 (R390C)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +5 more	GConflicting classifications of pathogenicity
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	Congenital glaucoma +7 more	GConflicting classifications of pathogenicity
Select item 898290	NM_000104.4(CYP1B1):c.1089C>T (p.Val363=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma +3 more	GConflicting classifications of pathogenicity
Select item 707692	NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=)	CYP1B1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 706998	NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=)	CYP1B1	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 632362	NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)	CYP1B1 (G329S)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +4 more	GConflicting classifications of pathogenicity
Select item 335953	NM_000104.4(CYP1B1):c.918G>A (p.Gly306=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma +2 more	GConflicting classifications of pathogenicity
Select item 895299	NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp)	CYP1B1 (R284W)	Single nucleotide variant (missense variant)	Congenital glaucoma +2 more	GUncertain significance
Select item 896721	NM_000104.4(CYP1B1):c.809A>G (p.Asn270Ser)	CYP1B1 (N270S)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335954	NM_000104.4(CYP1B1):c.763C>T (p.Arg255Cys)	CYP1B1 (R255C)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 166972	NM_000104.4(CYP1B1):c.729G>C (p.Val243=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma +4 more	GBenign
Select item 896722	NM_000104.4(CYP1B1):c.712G>T (p.Gly238Cys)	CYP1B1 (G238C)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 896723	NM_000104.4(CYP1B1):c.711G>T (p.Ala237=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma +2 more	GConflicting classifications of pathogenicity
Select item 897191	NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)	CYP1B1 (T234M)	Single nucleotide variant (missense variant)	Congenital glaucoma +5 more	GConflicting classifications of pathogenicity
Select item 68467	NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)	CYP1B1 (E229K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity; other
Select item 798154	NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val)	CYP1B1 (D218V)	Single nucleotide variant (missense variant)	Congenital glaucoma +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3