Related gene-specific medical variations for Gene (Select 286) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366940	NM_000037.4(ANK1):c.3553T>A (p.Trp1185Arg)	ANK1 (W1185R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 3362578	NM_000037.4(ANK1):c.389_390delinsCAAC (p.Leu130fs)	ANK1 (L130fs +1 more)	Indel (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 3362509	NM_000037.4(ANK1):c.290_291delinsCAAC (p.Leu97fs)	ANK1 (L130fs +1 more)	Indel (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 3362411	NM_000037.4(ANK1):c.5395-1085T>G	ANK1 (V66G)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 1	GUncertain significance
Select item 3362348	NM_000037.4(ANK1):c.1319C>T (p.Pro440Leu)	ANK1 (P440L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 3358773	NM_000037.4(ANK1):c.1722C>T (p.His574=)	ANK1, LOC126860369	Single nucleotide variant (synonymous variant)	ANK1-related disorder	GLikely benign
Select item 3340429	NM_000037.4(ANK1):c.1603-3C>A	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 3338248	NM_000037.4(ANK1):c.1624G>A (p.Val542Met)	ANK1 (V542M +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GBenign
Select item 3338247	NM_000037.4(ANK1):c.3477G>A (p.Pro1159=)	ANK1	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 1	GLikely benign
Select item 3258106	NM_000037.4(ANK1):c.248A>C (p.His83Pro)	ANK1 (H116P +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 3245545	NC_000008.10:g.(?_41518984)_(41591607_?)del	ANK1	Deletion	not provided	GPathogenic
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 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 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 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 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 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 2921128	NM_000037.4(ANK1):c.4391-18T>C	ANK1, LOC126860368	Single nucleotide variant (intron 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 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 2690542	NM_000037.4(ANK1):c.910-2A>G	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690541	NM_000037.4(ANK1):c.2681del (p.Pro894fs)	ANK1 (P894fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690540	NM_000037.4(ANK1):c.810+1G>A	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690539	NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)	ANK1 (E513* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690538	NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)	ANK1 (E645* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690537	NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)	ANK1 (I1188fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690536	NM_000037.4(ANK1):c.547_559del (p.Asn183fs)	ANK1, LOC124153154 (N183fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690535	NM_000037.4(ANK1):c.1675del (p.Asp559fs)	ANK1 (D559fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690534	NM_000037.4(ANK1):c.1124del (p.Leu375fs)	ANK1 (L375fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690533	NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)	ANK1 (G1612fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690532	NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)	ANK1	Deletion (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690531	NM_000037.4(ANK1):c.511_541del (p.Lys171fs)	ANK1, LOC124153154 (K171fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690530	NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)	ANK1, LOC126860368 (R1498fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690529	NM_000037.4(ANK1):c.2764del (p.Arg922fs)	ANK1 (R922fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690528	NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)	ANK1 (V1051fs +1 more)	Insertion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690527	NM_000037.4(ANK1):c.5164del (p.Gln1722fs)	ANK1 (Q1560fs +2 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690526	NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)	ANK1 (V717fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690525	NM_000037.4(ANK1):c.4391-1G>C	ANK1, LOC126860368	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690524	NM_000037.4(ANK1):c.2389-2A>G	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690523	NM_000037.4(ANK1):c.3954del (p.Arg1319fs)	ANK1 (R1319fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690522	NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)	ANK1 (Q644* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690521	NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)	ANK1 (P114L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690520	NM_000037.4(ANK1):c.6dup (p.Tyr3fs)	ANK1 (Y3fs)	Duplication (frameshift variant +1 more)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690519	NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)	ANK1 (T1630fs +2 more)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690518	NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)	ANK1 (P1534fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690517	NM_000037.4(ANK1):c.2296-1G>A	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690516	NM_000037.4(ANK1):c.1282dup (p.Ala428fs)	ANK1 (A428fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690515	NM_000037.4(ANK1):c.500dup (p.Thr168fs)	ANK1, LOC124153154 (T168fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
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
Select item 2690513	NM_000037.4(ANK1):c.613-1G>A	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690512	NM_000037.4(ANK1):c.3841del (p.Arg1281fs)	ANK1 (R1281fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2690511	NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)	ANK1 (W1017* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2689916	NM_000037.4(ANK1):c.1519del (p.Leu507fs)	ANK1 (L507fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 2688568	NM_000037.4(ANK1):c.694G>A (p.Val232Ile)	ANK1 (V232I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688567	NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)	ANK1 (V837A +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688566	NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)	ANK1 (K1368N +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688565	NM_000037.4(ANK1):c.1801-3C>G	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688563	NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)	ANK1 (I1016T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688562	NM_000037.4(ANK1):c.1028A>C (p.His343Pro)	ANK1 (H343P +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688561	NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)	ANK1 (E1274K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688560	NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)	ANK1 (L115Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688558	NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)	ANK1 (R1516M +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688557	NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)	ANK1 (R1457H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688556	NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)	ANK1 (G661D +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688553	NM_000037.4(ANK1):c.28-6_29dup	ANK1	Duplication (splice acceptor variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688552	NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)	ANK1 (E451K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688551	NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)	ANK1 (A1372T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2688550	NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)	ANK1, LOC126860368 (R1498W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2688548	NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)	ANK1, LOC130000286 (T790M +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2683401	NM_000037.4(ANK1):c.533del (p.His178fs)	ANK1, LOC124153154 (H178fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683009	NM_000037.4(ANK1):c.4505G>A (p.Arg1502His)	ANK1, LOC126860368 (R1502H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637207	NM_000037.4(ANK1):c.452C>A (p.Ala151Asp)	ANK1, LOC124153154 (A151D +1 more)	Single nucleotide variant (missense variant)	ANK1-related disorder	GUncertain significance
Select item 2636909	NM_000037.4(ANK1):c.4459G>A (p.Gly1487Ser)	ANK1, LOC126860368 (G1487S +1 more)	Single nucleotide variant (missense variant)	ANK1-related disorder +1 more	GUncertain significance
Select item 2636184	NM_000037.4(ANK1):c.1775del (p.Gly592fs)	ANK1, LOC126860369 (G592fs +1 more)	Deletion (frameshift variant)	ANK1-related disorder	GPathogenic
Select item 2633701	NM_000037.4(ANK1):c.4520C>A (p.Ser1507Ter)	ANK1, LOC126860368 (S1507* +1 more)	Single nucleotide variant (nonsense)	ANK1-related disorder	GPathogenic
Select item 2633048	NM_000037.4(ANK1):c.530del (p.Leu177fs)	ANK1, LOC124153154 (L177fs +1 more)	Deletion (frameshift variant)	ANK1-related disorder	GLikely pathogenic
Select item 2627402	NM_000037.4(ANK1):c.1729G>A (p.Val577Ile)	ANK1, LOC126860369 (V577I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2582356	NM_000037.4(ANK1):c.1376del (p.Asn459fs)	ANK1 (N459fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2555772	NM_000037.4(ANK1):c.4439T>C (p.Val1480Ala)	ANK1, LOC126860368 (V1480A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441758	NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser)	ANK1 (A610S +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2441610	NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)	ANK1 (Q1184* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2441506	NM_000037.4(ANK1):c.3123del (p.Ser1042fs)	ANK1 (S1042fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2441487	NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)	ANK1 (E1591* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2441456	NM_000037.4(ANK1):c.3859-2A>G	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2439077	NM_000037.4(ANK1):c.749G>T (p.Gly250Val)	ANK1 (G250V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439076	NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)	ANK1 (T269I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439075	NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)	ANK1 (R1255C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439074	NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)	ANK1 (Q1316E +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439073	NM_000037.4(ANK1):c.634A>G (p.Ile212Val)	ANK1 (I212V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439071	NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)	ANK1 (R322W +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439070	NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)	ANK1, LOC126860368 (R1476L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439069	NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)	ANK1 (G514C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	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 2439067	NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)	ANK1 (N1629I +2 more)	Single nucleotide variant (missense variant)	Hemolytic anemia +1 more	GUncertain significance
Select item 2439066	NM_000037.4(ANK1):c.247C>T (p.His83Tyr)	ANK1 (H116Y +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439065	NM_000037.4(ANK1):c.2971G>A (p.Val991Met)	ANK1 (V1032M +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance

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