286[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	LOC130000285, LOC130000286 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
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

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