ClinVar for MedGen (Select 436371) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2920779	NM_001114134.2(EPB42):c.1619-19C>T	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GLikely benign
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 2920772	NM_001114134.2(EPB42):c.971+8G>A	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689024	NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)	EPB42 (A240T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
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 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 2689021	NM_001114134.2(EPB42):c.466A>G (p.Met156Val)	EPB42 (M156V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689020	NM_001114134.2(EPB42):c.10+6C>T	EPB42 (P6S)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2689019	NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)	EPB42 (G316R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	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 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 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 2441263	NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)	EPB42 (G297S +1 more)	Single nucleotide variant (missense 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 2441261	NM_001114134.2(EPB42):c.538G>C (p.Asp180His)	EPB42 (D180H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	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 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 2441258	NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)	EPB42 (Q319K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 2441257	NM_001114134.2(EPB42):c.902G>A (p.Arg301His)	EPB42 (R301H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 2441256	NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)	EPB42 (R117Q +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 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 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 2224692	NM_001114134.2(EPB42):c.872C>T (p.Thr291Met)	EPB42 (T321M +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 2041913	NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)	EPB42 (V682I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
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 1443397	NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg)	EPB42 (G186R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1330970	NM_001114134.2(EPB42):c.890G>T (p.Gly297Val)	EPB42 (G297V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 1330747	NM_001114134.2(EPB42):c.550-37_550-12dup	EPB42	Duplication (intron variant)	Hereditary spherocytosis type 5	GLikely benign
Select item 1330591	NM_001114134.2(EPB42):c.637C>T (p.Arg213Cys)	EPB42 (R213C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
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 1324335	NM_001114134.2(EPB42):c.1501del (p.Ser501fs)	EPB42 (S501fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 5	GLikely pathogenic
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 1163095	NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr)	EPB42 (D116Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163093	NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn)	EPB42 (T103N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163092	NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)	EPB42 (Q207R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992936	NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)	EPB42 (T108I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GLikely pathogenic
Select item 992935	NM_001114134.2(EPB42):c.832G>C (p.Val278Leu)	EPB42 (V278L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GLikely pathogenic
Select item 887581	NM_001114134.2(EPB42):c.860G>A (p.Arg287His)	EPB42 (R287H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 887392	NM_001114134.2(EPB42):c.1075+14G>A	EPB42	Single nucleotide variant (intron 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 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 886393	NM_001114134.2(EPB42):c.1318+3A>G	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	GUncertain significance
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 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 885365	NM_001114134.2(EPB42):c.137G>A (p.Arg46His)	EPB42 (R46H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	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 884366	NM_000119.2(EPB42):c.*82G>A	EPB42	Single nucleotide variant	Hereditary spherocytosis type 5	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 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 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 811114	NM_001114134.2(EPB42):c.953G>T (p.Gly318Val)	EPB42 (G318V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807229	NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)	EPB42 (G493S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 776884	NM_001114134.2(EPB42):c.741C>A (p.Gly247=)	EPB42	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 631729	NM_001114134.2(EPB42):c.1682del (p.Phe561fs)	EPB42 (F591fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 618628	NM_001114134.2(EPB42):c.581G>A (p.Arg194His)	EPB42 (R224H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 316030	NM_001114134.2(EPB42):c.-51T>C	EPB42	Single nucleotide variant (5 prime UTR variant)	Hereditary spherocytosis type 5 +1 more	GBenign
Select item 316029	NM_001114134.2(EPB42):c.10+60C>T	EPB42 (P24S)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
Select item 316028	NM_001114134.2(EPB42):c.10+91G>A	EPB42	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316027	NM_001114134.2(EPB42):c.10+97G>A	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
Select item 316026	NM_001114134.2(EPB42):c.177G>A (p.Val59=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316025	NM_001114134.2(EPB42):c.210C>T (p.Ser70=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316024	NM_001114134.2(EPB42):c.346C>T (p.His116Tyr)	EPB42 (H146Y +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316023	NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu)	EPB42 (S148L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316022	NM_001114134.2(EPB42):c.430+12C>T	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
Select item 316021	NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln)	EPB42 (E268Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 316020	NM_001114134.2(EPB42):c.901C>T (p.Arg301Cys)	EPB42 (R331C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
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 316017	NM_001114134.2(EPB42):c.1077C>T (p.Val359=)	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 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 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 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 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 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 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 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 316006	NM_001114134.2(EPB42):c.*21T>A	EPB42	Single nucleotide variant (3 prime UTR variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 255158	NM_001114134.2(EPB42):c.894C>T (p.Thr298=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 255157	NM_001114134.2(EPB42):c.833-4A>G	EPB42	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255156	NM_001114134.2(EPB42):c.10+79G>A	EPB42 (S30N)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 255155	NM_001114134.2(EPB42):c.654+7G>A	EPB42	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 255154	NM_001114134.2(EPB42):c.453T>C (p.Asn151=)	EPB42	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255153	NM_001114134.2(EPB42):c.330G>A (p.Ala110=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5 +2 more	GBenign
Select item 255152	NM_001114134.2(EPB42):c.10+19C>T	EPB42 (S10L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
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 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 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 132638	NM_001114134.2(EPB42):c.196+6T>A	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5	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 132636	NM_001114134.2(EPB42):c.860del (p.Arg287fs)	EPB42 (R287fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 5	Gnot provided
Select item 132635	NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)	EPB42 (R317C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 132634	NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile)	EPB42 (T307I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GUncertain significance
Select item 132633	NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)	EPB42 (D175Y +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5	GPathogenic

<< First< Prev

Page of 2