ClinVar for Gene (Select 286) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245575	NC_000008.10:g.(?_41518984)_(41845101_?)dup	ANK1, KAT6A	Duplication	not provided	GUncertain significance
Select item 3245546	NC_000008.10:g.(?_41518984)_(42329908_?)dup	ANK1, AP3M2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245545	NC_000008.10:g.(?_41518984)_(41591607_?)del	ANK1	Deletion	not provided	GPathogenic
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3242176	NM_000037.4(ANK1):c.3280A>G (p.Thr1094Ala)	ANK1 (T1094A +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 3119276	NM_000037.4(ANK1):c.956A>C (p.Asp319Ala)	ANK1 (D352A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119266	NM_000037.4(ANK1):c.742C>T (p.Arg248Cys)	ANK1 (R281C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119263	NM_001142446.2(ANK1):c.69G>C (p.Lys23Asn)	ANK1 (K23N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119210	NM_000037.4(ANK1):c.5059C>T (p.Pro1687Ser)	ANK1 (P1687S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119203	NM_000037.4(ANK1):c.487C>T (p.Leu163Phe)	ANK1, LOC124153154 (L163F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119186	NM_000037.4(ANK1):c.4519T>C (p.Ser1507Pro)	ANK1, LOC126860368 (S1548P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119179	NM_000037.4(ANK1):c.4501G>A (p.Asp1501Asn)	ANK1, LOC126860368 (D1501N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119166	NM_000037.4(ANK1):c.4419C>A (p.Ser1473Arg)	ANK1, LOC126860368 (S1473R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119140	NM_000037.4(ANK1):c.3927G>C (p.Gln1309His)	ANK1 (Q1350H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119112	NM_000037.4(ANK1):c.3065G>A (p.Ser1022Asn)	ANK1 (S1022N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119094	NM_000037.4(ANK1):c.2855G>T (p.Arg952Leu)	ANK1 (R993L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119089	NM_000037.4(ANK1):c.2843G>A (p.Arg948His)	ANK1 (R989H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119070	NM_000037.4(ANK1):c.2359A>C (p.Lys787Gln)	ANK1, LOC130000286 (K820Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119057	NM_000037.4(ANK1):c.2069A>G (p.His690Arg)	ANK1 (H723R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119023	NM_000037.4(ANK1):c.124A>T (p.Asn42Tyr)	ANK1 (N75Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3068163	NM_000037.4(ANK1):c.895C>T (p.Gln299Ter)	ANK1 (Q299* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 3067715	NM_000037.4(ANK1):c.3909T>C (p.Pro1303=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065929	NM_000037.4(ANK1):c.5395-1079G>A	ANK1 (R68Q)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 1	GUncertain significance
Select item 3065097	NM_000037.4(ANK1):c.1143del (p.Asn382fs)	ANK1 (N382fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3059234	NM_000037.4(ANK1):c.1446C>T (p.His482=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3058323	NM_000037.4(ANK1):c.5545-9T>C	ANK1	Single nucleotide variant (intron variant)	ANK1-related disorder	GLikely benign
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 3052183	NM_000037.4(ANK1):c.498C>G (p.Tyr166Ter)	ANK1, LOC124153154 (Y166* +1 more)	Single nucleotide variant (nonsense)	ANK1-related disorder	GPathogenic
Select item 3052162	NM_000037.4(ANK1):c.327+5T>G	ANK1	Single nucleotide variant (intron variant)	ANK1-related disorder	GLikely benign
Select item 3050704	NM_000037.4(ANK1):c.2757T>A (p.Val919=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3049808	NM_000037.4(ANK1):c.4116C>T (p.Ala1372=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3049668	NM_000037.4(ANK1):c.3105G>A (p.Gly1035=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3047797	NM_000037.4(ANK1):c.1962G>C (p.Leu654=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3043429	NM_000037.4(ANK1):c.708A>G (p.Pro236=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3042292	NM_000037.4(ANK1):c.4569C>T (p.Ser1523=)	ANK1	Single nucleotide variant (synonymous variant +1 more)	ANK1-related disorder	GLikely benign
Select item 3034158	NM_000037.4(ANK1):c.5097-30C>T	ANK1	Single nucleotide variant (intron variant)	ANK1-related disorder	GBenign
Select item 3033795	NM_000037.4(ANK1):c.1686G>C (p.Pro562=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3033333	NM_000037.4(ANK1):c.3476_3477insAG (p.Arg1160fs)	ANK1 (R1160fs +1 more)	Insertion (frameshift variant)	ANK1-related disorder	GPathogenic
Select item 3033123	NM_000037.4(ANK1):c.714C>T (p.Asn238=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3030835	NM_000037.4(ANK1):c.1527T>A (p.Ile509=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3027037	NM_000037.4(ANK1):c.3762G>A (p.Gly1254=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025914	NM_000037.4(ANK1):c.5395-1209G>A	ANK1 (V25M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023453	NM_000037.4(ANK1):c.1998+18G>A	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020230	NM_000037.4(ANK1):c.3228C>T (p.Ile1076=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018237	NM_000037.4(ANK1):c.3600C>T (p.Cys1200=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017301	NM_000037.4(ANK1):c.41C>G (p.Thr14Ser)	ANK1 (T14S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015402	NM_000037.4(ANK1):c.1195G>A (p.Ala399Thr)	ANK1 (A432T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007541	NM_000037.4(ANK1):c.3205C>T (p.Leu1069Phe)	ANK1 (L1069F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005361	NM_000037.4(ANK1):c.4883C>T (p.Ser1628Leu)	ANK1 (S1628L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000903	NM_000037.4(ANK1):c.614C>T (p.Thr205Met)	ANK1 (T205M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000741	NM_000037.4(ANK1):c.694G>T (p.Val232Phe)	ANK1 (V232F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990513	NM_000037.4(ANK1):c.391C>T (p.Leu131=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983302	NM_000037.4(ANK1):c.1602+17C>T	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981038	NM_000037.4(ANK1):c.2296-18G>T	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978911	NM_000037.4(ANK1):c.2898C>T (p.Ala966=)	ANK1	Single nucleotide variant (synonymous variant)	ANK1-related disorder +1 more	GLikely benign
Select item 2976898	NM_000037.4(ANK1):c.28-17G>A	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974859	NM_000037.4(ANK1):c.4104+18G>A	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971565	NM_000037.4(ANK1):c.5298C>T (p.Pro1766=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970202	NM_000037.4(ANK1):c.1944A>G (p.Ala648=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966559	NM_000037.4(ANK1):c.5363A>C (p.Glu1788Ala)	ANK1 (E1788A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966556	NM_000037.4(ANK1):c.1695C>T (p.Ala565=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965244	NM_000037.4(ANK1):c.1998+20A>T	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964398	NM_000037.4(ANK1):c.2558+15C>T	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961396	NM_000037.4(ANK1):c.2691G>A (p.Glu897=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956347	NM_000037.4(ANK1):c.3532+20C>T	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954667	NM_000037.4(ANK1):c.1602+12C>T	ANK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921191	NM_000037.4(ANK1):c.427-2A>G	ANK1, LOC124153154	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2921189	NM_000037.4(ANK1):c.5298del (p.Glu1767fs)	ANK1 (E1767fs +2 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 2921128	NM_000037.4(ANK1):c.4391-18T>C	ANK1, LOC126860368	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GLikely benign
Select item 2921104	NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)	ANK1 (W1185G +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	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 2921000	NM_000037.4(ANK1):c.1659G>A (p.Glu553=)	ANK1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 1	GLikely benign
Select item 2920942	NM_000037.4(ANK1):c.1800+1del	ANK1, LOC126860369	Deletion (splice donor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 2920926	NM_000037.4(ANK1):c.1438del (p.Ile480fs)	ANK1 (I480fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 2920913	NM_000037.4(ANK1):c.327G>A (p.Gln109=)	ANK1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2920889	NM_000037.4(ANK1):c.3858+4A>G	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2920875	NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)	ANK1 (P1101T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2920853	NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)	ANK1 (S832R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2920837	NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)	ANK1, LOC124153154 (L152P +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2920827	NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)	ANK1 (Q142* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 2920819	NM_000037.4(ANK1):c.1207-6T>C	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GLikely benign
Select item 2920816	NM_000037.4(ANK1):c.813C>T (p.Asp271=)	ANK1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 1	GBenign
Select item 2920800	NM_000037.4(ANK1):c.3115+18C>T	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GLikely benign
Select item 2920797	NM_000037.4(ANK1):c.5395-1286C>T	ANK1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spherocytosis type 1 +1 more	GBenign
Select item 2920209	NM_000037.4(ANK1):c.4384G>A (p.Ala1462Thr)	ANK1 (A1503T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915440	NM_000037.4(ANK1):c.810+5G>A	ANK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2909560	NM_000037.4(ANK1):c.66A>G (p.Ser22=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899085	NM_000037.4(ANK1):c.4098C>T (p.Cys1366=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894686	NM_000037.4(ANK1):c.4680G>A (p.Met1560Ile)	ANK1 (M1601I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2892896	NM_000037.4(ANK1):c.3679A>T (p.Thr1227Ser)	ANK1 (T1268S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890656	NM_000037.4(ANK1):c.318C>T (p.Ala106=)	ANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889539	NM_000037.4(ANK1):c.4007C>T (p.Pro1336Leu)	ANK1 (P1336L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887935	NM_000037.4(ANK1):c.925A>G (p.Ile309Val)	ANK1 (I309V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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