ANK1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 909496	NM_000037.4(ANK1):c.*2409C>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362951	NM_000037.4(ANK1):c.*2342C>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362952	NM_000037.4(ANK1):c.*2281C>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 1163482	NM_000037.4(ANK1):c.*2272C>G	ANK1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 362953	NM_000037.4(ANK1):c.*2172C>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362954	NM_000037.4(ANK1):c.*2152T>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +2 more	GBenign
Select item 362955	NM_000037.4(ANK1):c.*2123G>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362956	NM_000037.4(ANK1):c.*2022G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +2 more	GBenign/Likely benign
Select item 362957	NM_000037.4(ANK1):c.*1952G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362958	NM_000037.4(ANK1):c.*1899G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +2 more	GBenign/Likely benign
Select item 908704	NM_000037.4(ANK1):c.*1892G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 908703	NM_000037.4(ANK1):c.*1892G>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 908705	NM_000037.4(ANK1):c.*1884G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 908706	NM_000037.4(ANK1):c.*1880C>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 909559	NM_000037.4(ANK1):c.*1858A>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 909560	NM_000037.4(ANK1):c.*1808A>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362959	NM_000037.4(ANK1):c.*1708G>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +2 more	GConflicting classifications of pathogenicity
Select item 362960	NM_000037.4(ANK1):c.*1667T>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1	GLikely benign
Select item 362961	NM_000037.4(ANK1):c.*1609C>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +2 more	GBenign/Likely benign
Select item 910487	NM_000037.4(ANK1):c.*1603C>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362962	NM_000037.4(ANK1):c.*1590G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 910488	NM_000037.4(ANK1):c.*1474C>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 911718	NM_000037.4(ANK1):c.*1424C>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 911719	NM_000037.4(ANK1):c.*1412G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362963	NM_000037.4(ANK1):c.*1402G>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GConflicting classifications of pathogenicity
Select item 911720	NM_000037.4(ANK1):c.*1250A>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362964	NM_000037.4(ANK1):c.*1242G>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 908761	NM_000037.4(ANK1):c.*1120T>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362965	NM_000037.4(ANK1):c.*1074A>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362966	NM_000037.4(ANK1):c.*1062T>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 909617	NM_000037.4(ANK1):c.*1031G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362967	NM_000037.4(ANK1):c.*992T>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GConflicting classifications of pathogenicity
Select item 362968	NM_000037.4(ANK1):c.*921TC[2]	ANK1	Microsatellite (3 prime UTR variant)	Spherocytosis, Dominant	GUncertain significance
Select item 909618	NM_000037.4(ANK1):c.*866C>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 909619	NM_000037.4(ANK1):c.*857C>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 910548	NM_000037.4(ANK1):c.*822G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 910549	NM_000037.4(ANK1):c.*821C>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 910550	NM_000037.4(ANK1):c.*795A>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362969	NM_000037.4(ANK1):c.*774A>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GConflicting classifications of pathogenicity
Select item 362970	NM_000037.4(ANK1):c.714_727dup	ANK1	Duplication (3 prime UTR variant)	Spherocytosis, Dominant	GUncertain significance
Select item 362971	NM_000037.4(ANK1):c.*701C>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 911790	NM_000037.4(ANK1):c.*665C>T	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362973	NM_000037.4(ANK1):c.*637AC[14]	ANK1	Microsatellite (3 prime UTR variant)	Spherocytosis, Dominant	GUncertain significance
Select item 362972	NM_000037.4(ANK1):c.*637AC[13]	ANK1	Microsatellite (3 prime UTR variant)	Spherocytosis, Dominant	GUncertain significance
Select item 362974	NM_000037.4(ANK1):c.*637AC[11]	ANK1	Microsatellite (3 prime UTR variant)	Spherocytosis, Dominant	GLikely benign
Select item 362975	NM_000037.4(ANK1):c.*651A>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 362976	NM_000037.4(ANK1):c.*484dup	ANK1	Duplication (3 prime UTR variant)	Spherocytosis, Dominant	GLikely benign
Select item 911791	NM_000037.4(ANK1):c.*437A>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +1 more	GUncertain significance
Select item 1163483	NM_000037.4(ANK1):c.*417G>C	ANK1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 908823	NM_000037.4(ANK1):c.*411C>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 908824	NM_000037.4(ANK1):c.*395T>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 908825	NM_000037.4(ANK1):c.*385G>T	ANK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 362977	NM_000037.4(ANK1):c.*385del	ANK1	Deletion (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 908826	NM_000037.4(ANK1):c.*378T>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 908827	NM_000037.4(ANK1):c.*372T>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 362978	NM_000037.4(ANK1):c.*238T>C	ANK1	Single nucleotide variant (3 prime UTR variant)	Spherocytosis +2 more	GBenign/Likely benign
Select item 909680	NM_000037.4(ANK1):c.*117G>A	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 909681	NM_000037.4(ANK1):c.*64A>G	ANK1	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 909682	NM_000037.4(ANK1):c.*48G>A	ANK1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 1236855	NM_000037.4(ANK1):c.*37-181G>A	ANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178025	NM_000037.4(ANK1):c.*37-259A>G	ANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234411	NM_000037.4(ANK1):c.*37-267A>G	ANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 802400	NM_000037.4(ANK1):c.*36+989dup	ANK1	Duplication (intron variant)	Hereditary spherocytosis type 1	GBenign
Select item 1243658	NM_000037.4(ANK1):c.*36+233G>A	ANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280548	NM_000037.4(ANK1):c.*36+76C>G	ANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308857	NM_000037.4(ANK1):c.*36+1G>A	ANK1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 910604	NM_000037.4(ANK1):c.*32G>A	ANK1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 910605	NM_000037.4(ANK1):c.*31C>T	ANK1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spherocytosis type 1	GUncertain significance
Select item 3057384	NM_000037.4(ANK1):c.*10G>A	ANK1	Single nucleotide variant (3 prime UTR variant +1 more)	ANK1-related disorder	GLikely benign
Select item 910606	NM_000037.4(ANK1):c.*8C>A	ANK1	Single nucleotide variant (3 prime UTR variant +1 more)	Spherocytosis +1 more	GConflicting classifications of pathogenicity
Select item 362979	NM_000037.4(ANK1):c.*4C>T	ANK1	Single nucleotide variant (intron variant +1 more)	Spherocytosis +1 more	GUncertain significance
Select item 3075737	NM_000037.4(ANK1):c.5633G>A (p.Gly1878Glu)	ANK1 (G153E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2300222	NM_000037.4(ANK1):c.5632G>A (p.Gly1878Arg)	ANK1 (G1878R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 910607	NM_000037.4(ANK1):c.5628A>G (p.Lys1876=)	ANK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 1303170	NM_000037.4(ANK1):c.5615G>A (p.Arg1872Gln)	ANK1 (R147Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 362980	NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp)	ANK1 (R1872W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2439068	NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)	ANK1 (I144R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2744037	NM_000037.4(ANK1):c.5603A>G (p.Gln1868Arg)	ANK1 (Q1868R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 789017	NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)	ANK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1330617	NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)	ANK1 (A142V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 1	GConflicting classifications of pathogenicity
Select item 1330718	NM_000037.4(ANK1):c.5598G>A (p.Gly1866=)	ANK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spherocytosis type 1	GLikely benign
Select item 3365318	NM_000037.4(ANK1):c.5591G>C (p.Arg1864Thr)	ANK1 (R139T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 739022	NM_000037.4(ANK1):c.5574G>A (p.Pro1858=)	ANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2401899	NM_000037.4(ANK1):c.5573C>T (p.Pro1858Leu)	ANK1 (P1858L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058323	NM_000037.4(ANK1):c.5545-9T>C	ANK1	Single nucleotide variant (intron variant)	ANK1-related disorder	GLikely benign
Select item 1163484	NM_000037.4(ANK1):c.5545-72T>G	ANK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1262189	NM_000037.4(ANK1):c.5544+146A>G	ANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261318	NM_000037.4(ANK1):c.5544+91C>T	ANK1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 712802	NM_000037.4(ANK1):c.5544+79C>T	ANK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713229	NM_000037.4(ANK1):c.5544+59T>A	ANK1 (F143Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 790052	NM_000037.4(ANK1):c.5544+46G>A	ANK1 (D1702N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2805367	NM_000037.4(ANK1):c.5544+15G>T	ANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2110298	NM_000037.4(ANK1):c.5544+11del	ANK1 (E127fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2528954	NM_000037.4(ANK1):c.5538C>G (p.His1846Gln)	ANK1 (H121Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2921004	NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)	ANK1 (Q1844* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spherocytosis type 1	GPathogenic
Select item 2414865	NM_000037.4(ANK1):c.5526C>T (p.Ala1842=)	ANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 911830	NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)	ANK1	Single nucleotide variant (synonymous variant +1 more)	Spherocytosis +2 more	GConflicting classifications of pathogenicity
Select item 3294305	NM_000037.4(ANK1):c.5518G>A (p.Ala1840Thr)	ANK1 (A1840T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2710013	NM_000037.4(ANK1):c.5504_5507del (p.Ile1835fs)	ANK1 (I1876fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2690514	NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)	ANK1 (Q109* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spherocytosis type 1	GLikely pathogenic

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