C2674218[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2439067	NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)	ANK1 (N1629I +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2439039	NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)	ANK1 (R1616K +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2432861	NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)	ANK1 (R1613fs +2 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2688554	NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)	ANK1 (T1599M +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439047	NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)	ANK1 (H1568L +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
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 509	NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter)	ANK1 (W1721* +2 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 2439044	NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)	ANK1 (I1547T +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 909744	NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser)	ANK1 (G1545S +2 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GUncertain significance
Select item 2435017	NM_000037.4(ANK1):c.5097-33G>A	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 2432829	NM_000037.4(ANK1):c.5096+2T>G	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2688549	NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)	ANK1 (R1537K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432318	NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)	ANK1 (T1531fs +2 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2434998	NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)	ANK1 (R1520* +2 more)	Single nucleotide variant (nonsense)	ANK1-related condition +1 more	GPathogenic
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 2432454	NM_000037.4(ANK1):c.5026del (p.His1676fs)	ANK1 (H1514fs +2 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2433541	NM_000037.4(ANK1):c.4886del (p.Asp1629fs)	ANK1 (D1629fs +1 more)	Deletion (frameshift variant +1 more)	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 1323902	NM_000037.4(ANK1):c.4835del (p.Gly1612fs)	ANK1 (G1612fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1163486	NM_000037.4(ANK1):c.4813del (p.Ala1605fs)	ANK1 (A1605fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2432046	NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)	ANK1 (D1594fs +1 more)	Deletion (frameshift variant +1 more)	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 2439050	NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)	ANK1	Deletion (inframe_deletion +1 more)	Hereditary spherocytosis type 1	GUncertain significance
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 2433628	NM_000037.4(ANK1):c.4529del (p.Gln1510fs)	ANK1, LOC126860368 (Q1510fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1950005	NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)	ANK1, LOC126860368 (D1501H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1163880	NM_000037.4(ANK1):c.4472G>A (p.Arg1491His)	ANK1, LOC126860368 (R1491H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GUncertain significance
Select item 544802	NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)	ANK1, LOC126860368 (R1488* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 1523866	NM_000037.4(ANK1):c.4390+1G>A	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1 +1 more	GLikely pathogenic
Select item 2435001	NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)	ANK1 (N1463fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
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 2431998	NM_000037.4(ANK1):c.4267del (p.Arg1423fs)	ANK1 (R1423fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2433497	NM_000037.4(ANK1):c.4259-1G>T	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2433360	NM_000037.4(ANK1):c.4184-2A>G	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 362993	NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)	ANK1 (Y1386H +1 more)	Single nucleotide variant (missense variant)	ANK1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 811958	NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter)	ANK1 (R1385* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
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 911934	NM_000037.4(ANK1):c.4105-5T>G	ANK1	Single nucleotide variant (intron variant)	ANK1-related condition +3 more	GConflicting classifications of pathogenicity
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 2433420	NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)	ANK1 (P1365fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2439060	NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)	ANK1 (R1344C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 1163881	NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)	ANK1 (R1334* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 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 1323894	NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter)	ANK1 (Q1310* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2441517	NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)	ANK1 (S1298fs +1 more)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic/Likely 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 2439038	NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)	ANK1 (E1286G +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
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 2439043	NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)	ANK1 (V1277L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2433310	NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)	ANK1 (Y1259* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GLikely pathogenic
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 2435016	NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)	ANK1 (R1252* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1 +1 more	GPathogenic
Select item 2439042	NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)	ANK1 (V1243I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 363001	NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)	ANK1 (R1218W +1 more)	Single nucleotide variant (missense variant)	Spherocytosis +2 more	GUncertain significance
Select item 2333534	NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)	ANK1 (S1255L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2433386	NM_000037.4(ANK1):c.3630-1G>A	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 617974	NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs)	ANK1 (S1208fs +1 more)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 1 +1 more	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 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 2432379	NM_000037.4(ANK1):c.3533-2A>G	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2432663	NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)	ANK1 (D1166fs +1 more)	Microsatellite (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2439064	NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)	ANK1 (V1132D +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2439061	NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)	ANK1 (S1129R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 1163882	NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)	ANK1 (S1129I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1679466	NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)	ANK1 (V1100I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GConflicting classifications of pathogenicity
Select item 2353641	NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)	ANK1 (E1079K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 810942	NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg)	ANK1 (G1077R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2386439	NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)	ANK1 (D1115N +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 2433056	NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)	ANK1 (S1067fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1330678	NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu)	ANK1 (P1101L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 1323896	NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter)	ANK1 (R1053* +1 more)	Single nucleotide variant (nonsense)	ANK1-related condition +2 more	GPathogenic
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 2433129	NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)	ANK1 (S1042fs +1 more)	Duplication (frameshift variant)	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 2434992	NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)	ANK1 (G1025* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
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 2439051	NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)	ANK1 (W1017G +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2439059	NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)	ANK1 (V1007M +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
Select item 1323892	NM_000037.4(ANK1):c.2961-2A>G	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1163886	NM_000037.4(ANK1):c.2960+1G>A	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1 +1 more	GLikely pathogenic
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 2433250	NM_000037.4(ANK1):c.2823del (p.Thr942fs)	ANK1 (T942fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1330761	NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)	ANK1 (R935* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1323898	NM_000037.4(ANK1):c.2768del (p.Gly923fs)	ANK1 (G923fs +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 2690541	NM_000037.4(ANK1):c.2681del (p.Pro894fs)	ANK1 (P894fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2439041	NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)	ANK1 (A858P +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 1323901	NM_000037.4(ANK1):c.2558+2T>C	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1	GLikely pathogenic

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