2597[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 149115	GRCh38/hg38 2p22.2(chr2:38013370-38232603)x1	CYP1B1, CYP1B1-AS1 +6 more	Copy number loss	See cases	GUncertain significance
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 2965152	NM_000104.4(CYP1B1):c.1614C>G (p.Ala538=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 965575	NM_000104.4(CYP1B1):c.1600C>A (p.Gln534Lys)	CYP1B1 (Q534K)	Single nucleotide variant (missense variant)	Congenital glaucoma	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 2058471	NM_000104.4(CYP1B1):c.1590T>G (p.Asp530Glu)	CYP1B1 (D530E)	Single nucleotide variant (missense variant)	Congenital glaucoma	GUncertain significance
Select item 501002	NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)	CYP1B1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2956037	NM_000104.4(CYP1B1):c.1563T>G (p.Thr521=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2721475	NM_000104.4(CYP1B1):c.1557T>C (p.Asn519=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3079389	NM_000104.4(CYP1B1):c.1556A>C (p.Asn519Thr)	CYP1B1 (N519T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2734161	NM_000104.4(CYP1B1):c.1556A>G (p.Asn519Ser)	CYP1B1 (N519S)	Single nucleotide variant (missense variant)	Congenital glaucoma	GLikely benign
Select item 2745812	NM_000104.4(CYP1B1):c.1545A>T (p.Ser515=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2813894	NM_000104.4(CYP1B1):c.1542G>A (p.Lys514=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 813355	NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	CYP1B1	Deletion (inframe_deletion)	Glaucoma 3A +2 more	GPathogenic/Likely pathogenic
Select item 2893291	NM_000104.4(CYP1B1):c.1530C>G (p.Thr510=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2915868	NM_000104.4(CYP1B1):c.1521T>C (p.Tyr507=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2726007	NM_000104.4(CYP1B1):c.1503G>A (p.Ala501=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GBenign
Select item 2595165	NM_000104.4(CYP1B1):c.1502C>A (p.Ala501Glu)	CYP1B1 (A501E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2961988	NM_000104.4(CYP1B1):c.1500T>C (p.Pro500=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2839049	NM_000104.4(CYP1B1):c.1500T>A (p.Pro500=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2712336	NM_000104.4(CYP1B1):c.1497G>A (p.Glu499=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign

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