2038[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 884366	NM_000119.2(EPB42):c.*82G>A	EPB42	Single nucleotide variant	Hereditary spherocytosis type 5	GUncertain significance
Select item 316006	NM_001114134.2(EPB42):c.*21T>A	EPB42	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 3089457	NM_001114134.2(EPB42):c.2062G>A (p.Glu688Lys)	EPB42 (E688K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083375	NM_001114134.2(EPB42):c.2049C>T (p.Thr683=)	EPB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041913	NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)	EPB42 (V682I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316007	NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)	EPB42 (N708D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2327013	NM_001114134.2(EPB42):c.2014A>G (p.Met672Val)	EPB42 (M672V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296499	NM_001114134.2(EPB42):c.1988G>A (p.Arg663Lys)	EPB42 (R663K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884367	NM_001114134.2(EPB42):c.1964C>T (p.Thr655Met)	EPB42 (T655M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3275792	NM_001114134.2(EPB42):c.1958A>T (p.Gln653Leu)	EPB42 (Q683L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316008	NM_001114134.2(EPB42):c.1941_1943del (p.Met648del)	EPB42 (M678del +1 more)	Deletion (inframe_deletion)	Spherocytosis, Recessive	GUncertain significance
Select item 439665	NM_001114134.2(EPB42):c.1919G>A (p.Arg640His)	EPB42 (R670H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957252	NM_001114134.2(EPB42):c.1914-19G>T	EPB42	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266210	NM_001114134.2(EPB42):c.1914-136del	EPB42	Deletion (intron variant)	not provided	GBenign
Select item 3050884	NM_001114134.2(EPB42):c.1912A>G (p.Arg638Gly)	EPB42 (R638G +1 more)	Single nucleotide variant (missense variant)	EPB42-related disorder	GLikely benign
Select item 2921044	NM_001114134.2(EPB42):c.1887del (p.Leu630fs)	EPB42 (L630fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 5	GLikely pathogenic
Select item 1975476	NM_001114134.2(EPB42):c.1876C>T (p.Leu626=)	EPB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537007	NM_001114134.2(EPB42):c.1862G>T (p.Cys621Phe)	EPB42 (C651F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689018	NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)	EPB42 (M618L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441259	NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)	EPB42 (E599K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 3089455	NM_001114134.2(EPB42):c.1788G>T (p.Glu596Asp)	EPB42 (E626D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689022	NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)	EPB42 (M594I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1283031	NM_001114134.2(EPB42):c.1780-116_1780-115del	EPB42	Deletion (intron variant)	not provided	GBenign
Select item 1231539	NM_001114134.2(EPB42):c.1779+191C>A	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262595	NM_001114134.2(EPB42):c.1779+101A>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1330984	NM_001114134.2(EPB42):c.1779+7A>G	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GLikely benign
Select item 316009	NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)	EPB42 (H619Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
Select item 1163377	NM_001114134.2(EPB42):c.1747A>G (p.Ile583Val)	EPB42 (I583V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3089454	NM_001114134.2(EPB42):c.1744G>T (p.Asp582Tyr)	EPB42 (D612Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441260	NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)	EPB42 (A566T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 631729	NM_001114134.2(EPB42):c.1682del (p.Phe561fs)	EPB42 (F591fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1163378	NM_001114134.2(EPB42):c.1673A>G (p.Glu558Gly)	EPB42 (E558G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776883	NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)	EPB42 (E558K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3089453	NM_001114134.2(EPB42):c.1670C>T (p.Pro557Leu)	EPB42 (P557L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1163379	NM_001114134.2(EPB42):c.1667C>T (p.Pro556Leu)	EPB42 (P556L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 316010	NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln)	EPB42 (R584Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1912307	NM_001114134.2(EPB42):c.1660C>T (p.Arg554Ter)	EPB42 (R554* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 13237	NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter)	EPB42 (E583* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 5	GPathogenic
Select item 2130840	NM_001114134.2(EPB42):c.1641_1648del (p.Phe548fs)	EPB42 (F548fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 886391	NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser)	EPB42 (G576S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2689023	NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)	EPB42 (E540G +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2920779	NM_001114134.2(EPB42):c.1619-19C>T	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GLikely benign
Select item 1256739	NM_001114134.2(EPB42):c.1619-264A>T	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289517	NM_001114134.2(EPB42):c.1619-323A>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316011	NM_001114134.2(EPB42):c.1615C>A (p.Leu539Met)	EPB42 (L569M +1 more)	Single nucleotide variant (missense variant)	Spherocytosis, Recessive	GUncertain significance
Select item 132637	NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)	EPB42 (A567T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886392	NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)	EPB42	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2794818	NM_001114134.2(EPB42):c.1593_1594delinsAA (p.His532Asn)	EPB42 (H532N +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2683297	NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)	EPB42 (L522I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 811729	NM_001114134.2(EPB42):c.1532T>C (p.Ile511Thr)	EPB42 (I511T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2683298	NM_001114134.2(EPB42):c.1506G>T (p.Glu502Asp)	EPB42 (E502D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324335	NM_001114134.2(EPB42):c.1501del (p.Ser501fs)	EPB42 (S501fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 5	GLikely pathogenic
Select item 2182018	NM_001114134.2(EPB42):c.1488G>T (p.Thr496=)	EPB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693639	NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met)	EPB42 (T496M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1531885	NM_001114134.2(EPB42):c.1407C>T (p.Leu469=)	EPB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807229	NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)	EPB42 (G493S +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +3 more	GConflicting classifications of pathogenicity
Select item 2348503	NM_001114134.2(EPB42):c.1386C>G (p.Asn462Lys)	EPB42 (N492K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316012	NM_001114134.2(EPB42):c.1386C>T (p.Asn462=)	EPB42	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441264	NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)	EPB42 (R458H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 3089452	NM_001114134.2(EPB42):c.1372C>T (p.Arg458Cys)	EPB42 (R488C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920982	NM_001114134.2(EPB42):c.1345G>C (p.Glu449Gln)	EPB42 (E449Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 255150	NM_001114134.2(EPB42):c.1319-13T>G	EPB42	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1269153	NM_001114134.2(EPB42):c.1319-49A>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2149879	NM_001114134.2(EPB42):c.1318+5G>A	EPB42	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 255149	NM_001114134.2(EPB42):c.1318+4C>T	EPB42	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 886393	NM_001114134.2(EPB42):c.1318+3A>G	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441262	NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)	EPB42 (E439K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 3089451	NM_001114134.2(EPB42):c.1312C>A (p.Pro438Thr)	EPB42 (P438T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2837914	NM_001114134.2(EPB42):c.1299G>A (p.Gln433=)	EPB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618093	NM_001114134.2(EPB42):c.1288G>A (p.Asp430Asn)	EPB42 (D460N +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 2083376	NM_001114134.2(EPB42):c.1284C>T (p.Cys428=)	EPB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348551	NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)	EPB42 (R457H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
Select item 255148	NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)	EPB42 (R457C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 1050524	NM_001114134.2(EPB42):c.1278C>A (p.Asp426Glu)	EPB42 (D426E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3358421	NM_001114134.2(EPB42):c.1266T>C (p.Gly422=)	EPB42	Single nucleotide variant (synonymous variant)	EPB42-related disorder	GLikely benign
Select item 316013	NM_001114134.2(EPB42):c.1265G>T (p.Gly422Val)	EPB42 (G452V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887390	NM_001114134.2(EPB42):c.1244G>C (p.Gly415Ala)	EPB42 (G445A +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316014	NM_001114134.2(EPB42):c.1220C>T (p.Thr407Ile)	EPB42 (T437I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441255	NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)	EPB42 (E405K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316015	NM_001114134.2(EPB42):c.1195T>C (p.Cys399Arg)	EPB42 (C429R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 887391	NM_001114134.2(EPB42):c.1173C>T (p.Ala391=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316016	NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu)	EPB42 (I419L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1559334	NM_001114134.2(EPB42):c.1134G>C (p.Leu378=)	EPB42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 811192	NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met)	EPB42 (T375M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441254	NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)	EPB42 (V366A +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316017	NM_001114134.2(EPB42):c.1077C>T (p.Val359=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 887392	NM_001114134.2(EPB42):c.1075+14G>A	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316018	NM_001114134.2(EPB42):c.1075+7C>A	EPB42	Single nucleotide variant (intron variant)	Spherocytosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 1330540	NM_001114134.2(EPB42):c.1058C>T (p.Ala353Val)	EPB42 (A353V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887393	NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)	EPB42 (Q347H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255147	NM_001114134.2(EPB42):c.1032T>C (p.Asp344=)	EPB42	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316019	NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp)	EPB42 (G372D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 811439	NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln)	EPB42 (R336Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 3089450	NM_001114134.2(EPB42):c.976T>C (p.Phe326Leu)	EPB42 (F356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920773	NM_001114134.2(EPB42):c.971+9C>A	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1163380	NM_001114134.2(EPB42):c.971+8_971+9delinsAA	EPB42	Indel (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2920772	NM_001114134.2(EPB42):c.971+8G>A	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2286059	NM_001114134.2(EPB42):c.962G>A (p.Gly321Asp)	EPB42 (G321D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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