ClinVar for MedGen (Select 333996) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 188

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241135	NM_201548.5(CERKL):c.652del (p.Glu218fs)	CERKL (E174fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241134	NM_201548.5(CERKL):c.1350del (p.Ser451fs)	CERKL (S338fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241133	NM_201548.5(CERKL):c.1250del (p.Gly417fs)	CERKL (G304fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241132	NM_201548.5(CERKL):c.637_638del (p.Leu213fs)	CERKL (L169fs +1 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241131	NM_201548.5(CERKL):c.1361del (p.Asn454fs)	CERKL (N341fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241130	NM_201548.5(CERKL):c.613+2T>C	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3064161	NM_201548.5(CERKL):c.238G>A (p.Gly80Ser)	CERKL, LOC129935214 (G80S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 3062008	NM_201548.5(CERKL):c.1241C>G (p.Ala414Gly)	CERKL (A301G +4 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 3061943	NM_201548.5(CERKL):c.1561_1564dup (p.Tyr522fs)	CERKL, ITGA4 (Y409fs +4 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 26	GPathogenic
Select item 2913704	NM_201548.5(CERKL):c.1074-2A>C	CERKL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 26 +1 more	GLikely pathogenic
Select item 2680687	NM_201548.5(CERKL):c.1534dup (p.Ile512fs)	CERKL (I399fs +4 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680686	NM_201548.5(CERKL):c.1365+2T>C	CERKL	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680685	NM_201548.5(CERKL):c.1160-2A>G	CERKL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680684	NM_201548.5(CERKL):c.1159+1G>A	CERKL	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680683	NM_201548.5(CERKL):c.304A>T (p.Lys102Ter)	CERKL (K102*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680682	NM_201548.5(CERKL):c.336del (p.Arg113fs)	CERKL (R113fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680681	NM_201548.5(CERKL):c.238+1G>T	CERKL, LOC129935214	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680680	NM_201548.5(CERKL):c.239-2A>C	CERKL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680679	NM_201548.5(CERKL):c.1366-1G>T	CERKL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680678	NM_201548.5(CERKL):c.482-1G>A	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680677	NM_201548.5(CERKL):c.613+1G>C	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680676	NM_201548.5(CERKL):c.1484del (p.Phe495fs)	CERKL (F382fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680675	NM_201548.5(CERKL):c.752_755dup (p.Met253fs)	CERKL (M235fs +2 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680674	NM_201548.5(CERKL):c.678-1G>T	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680673	NM_201548.5(CERKL):c.270del (p.Glu91fs)	CERKL (E91fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680672	NM_201548.5(CERKL):c.1225_1226insAAGG (p.Cys409Ter)	CERKL (C296* +4 more)	Insertion (nonsense +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680671	NM_201548.5(CERKL):c.93del (p.Leu32fs)	CERKL (L32fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 2680670	NM_201548.5(CERKL):c.541G>T (p.Glu181Ter)	CERKL (E181*)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680669	NM_201548.5(CERKL):c.385G>T (p.Glu129Ter)	CERKL (E129*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680668	NM_201548.5(CERKL):c.6del (p.Trp3fs)	CERKL, LOC129935215 (W3fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2680667	NM_201548.5(CERKL):c.1539-16_1552inv	CERKL, ITGA4	Inversion (3 prime UTR variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 2501097	NM_201548.5(CERKL):c.1366-2A>G	CERKL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 26 +1 more	GLikely pathogenic
Select item 2439920	NM_201548.5(CERKL):c.808T>G (p.Leu270Val)	CERKL (L252V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 2172507	NM_201548.5(CERKL):c.1255G>A (p.Ala419Thr)	CERKL (A350T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2085599	NM_201548.5(CERKL):c.294_295del (p.Phe99fs)	CERKL (F99fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2071035	NM_201548.5(CERKL):c.678-1G>C	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1951763	NM_201548.5(CERKL):c.1421_1424del (p.Arg474fs)	CERKL (R500fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1916231	NM_201548.5(CERKL):c.1555_1558dup (p.Ser520fs)	ITGA4, CERKL (S407fs +4 more)	Duplication (3 prime UTR variant +2 more)	Retinitis pigmentosa 26 +1 more	GLikely pathogenic
Select item 1723321	NM_201548.5(CERKL):c.568del (p.Val190fs)	CERKL (V190fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 1520973	NM_201548.5(CERKL):c.1074-2A>G	CERKL	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1520437	NM_201548.5(CERKL):c.895+1G>A	CERKL	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1494511	NM_201548.5(CERKL):c.182T>A (p.Val61Glu)	CERKL, LOC129935214 (V61E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1455683	NM_201548.5(CERKL):c.1361dup (p.Asn454fs)	CERKL (N436fs +4 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1453528	NM_201548.5(CERKL):c.677+562del	CERKL (P187fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1442655	NM_201548.5(CERKL):c.1392C>G (p.Tyr464Ter)	CERKL (Y351* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1425842	NM_201548.5(CERKL):c.848_849del (p.Leu283fs)	CERKL (L170fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1333416	NM_201548.5(CERKL):c.52_55del (p.Glu18fs)	CERKL (E18fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 1333339	NM_201548.5(CERKL):c.560_568del (p.Tyr187_Val190delinsPhe)	CERKL	Deletion (inframe_indel +2 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 1308275	NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)	CERKL (R106C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1302082	NM_201548.5(CERKL):c.112C>T (p.Gln38Ter)	CERKL (Q38*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1213972	NM_201548.5(CERKL):c.497C>T (p.Pro166Leu)	CERKL (P166L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1184755	NM_201548.5(CERKL):c.239-49T>C	CERKL	Single nucleotide variant (intron variant)	Retinitis pigmentosa 26 +1 more	GBenign
Select item 1184754	NM_201548.5(CERKL):c.677+665G>T	CERKL	Single nucleotide variant (intron variant)	Retinitis pigmentosa 26 +1 more	GBenign
Select item 1184753	NM_201548.5(CERKL):c.896-18T>C	CERKL	Single nucleotide variant (intron variant)	Retinitis pigmentosa 26	GBenign
Select item 1076445	NM_201548.5(CERKL):c.397_401del (p.Leu133fs)	CERKL (L133fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1075776	NM_201548.5(CERKL):c.1389_1392dup (p.Thr465fs)	CERKL (T352fs +4 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1075279	NM_201548.5(CERKL):c.8G>A (p.Trp3Ter)	CERKL, LOC129935215 (W3*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1072129	NM_201548.5(CERKL):c.954_961dup (p.Ser321fs)	CERKL (S208fs +4 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic
Select item 1072011	NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs)	CERKL (Y351fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26 +2 more	GPathogenic/Likely pathogenic
Select item 1068912	NM_201548.5(CERKL):c.156_157insT (p.Glu53Ter)	CERKL (E53*)	Insertion (nonsense +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic
Select item 1068911	NM_201548.5(CERKL):c.758del (p.Met253fs)	CERKL (M235fs +2 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 26 +1 more	GPathogenic
Select item 1067907	NM_201548.5(CERKL):c.1073+1G>A	CERKL	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1066420	NM_201548.5(CERKL):c.820+2C>G	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1065714	NM_201548.5(CERKL):c.366_367del (p.Phe123fs)	CERKL (F123fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
Select item 1065700	NM_201548.5(CERKL):c.109C>T (p.Gln37Ter)	CERKL (Q37*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26	GPathogenic/Likely pathogenic
Select item 1062235	NM_201548.5(CERKL):c.824C>A (p.Ser275Tyr)	CERKL (S162Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1056369	NM_201548.5(CERKL):c.953T>C (p.Phe318Ser)	CERKL (F205S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1047351	NM_201548.5(CERKL):c.364C>G (p.Leu122Val)	CERKL (L122V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045732	NM_201548.5(CERKL):c.548C>T (p.Thr183Ile)	CERKL (T183I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1041260	NM_201548.5(CERKL):c.1268G>A (p.Arg423Lys)	CERKL (R405K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1041074	NM_201548.5(CERKL):c.901G>A (p.Val301Ile)	CERKL (V283I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1038448	NM_201548.5(CERKL):c.238+6T>C	CERKL, LOC129935214	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1038169	NM_201548.5(CERKL):c.677+590G>C	CERKL (Q240H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1026139	NM_201548.5(CERKL):c.1043T>C (p.Phe348Ser)	CERKL (F235S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1020104	NM_201548.5(CERKL):c.677+613C>T	CERKL (T204M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1005884	NM_201548.5(CERKL):c.1174T>C (p.Trp392Arg)	CERKL (W279R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1004145	NM_201548.5(CERKL):c.1449GGA[5] (p.Glu486dup)	CERKL	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1003512	NM_201548.5(CERKL):c.1445C>T (p.Pro482Leu)	CERKL (P369L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1003474	NM_201548.5(CERKL):c.44_55del (p.Gly15_Glu18del)	CERKL, LOC129935215	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 998778	NM_201548.5(CERKL):c.677+610A>G	CERKL (Q203R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991579	NM_201548.5(CERKL):c.41A>G (p.Glu14Gly)	CERKL, LOC129935215 (E14G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991578	NM_201548.5(CERKL):c.129C>T (p.Ala43=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 991577	NM_201548.5(CERKL):c.699T>C (p.Asp233=)	CERKL	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 991255	NM_201548.5(CERKL):c.949C>T (p.Arg317Cys)	CERKL (R204C +4 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26 +1 more	GUncertain significance
Select item 991254	NM_201548.5(CERKL):c.1368C>T (p.Phe456=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 979002	NM_201548.5(CERKL):c.921C>A (p.Cys307Ter)	CERKL (C194* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26 +1 more	GPathogenic
Select item 978998	NM_201548.5(CERKL):c.734T>C (p.Leu245Pro)	CERKL (L227P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 972660	NM_201548.5(CERKL):c.830A>G (p.Asn277Ser)	CERKL (N208S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 972617	NM_201548.5(CERKL):c.314G>A (p.Arg105Gln)	CERKL (R105Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 972344	NM_201548.5(CERKL):c.163G>C (p.Gly55Arg)	CERKL (G55R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 971892	NM_201548.5(CERKL):c.41A>C (p.Glu14Ala)	CERKL, LOC129935215 (E14A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 971532	NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser)	CERKL (T376S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 970895	NM_201548.5(CERKL):c.1166A>G (p.Asn389Ser)	CERKL (N415S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 969984	NM_201548.5(CERKL):c.1316G>A (p.Arg439Gln)	CERKL (R370Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 969876	NM_201548.5(CERKL):c.250T>C (p.Tyr84His)	CERKL (Y84H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 968768	NM_201548.5(CERKL):c.134G>A (p.Arg45Gln)	CERKL (R45Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 968233	NM_201548.5(CERKL):c.1204G>A (p.Val402Ile)	CERKL (V402I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 967359	NM_201548.5(CERKL):c.678-1G>A	CERKL	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 964927	NM_201548.5(CERKL):c.1452G>C (p.Glu484Asp)	CERKL (E484D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 963421	NM_201548.5(CERKL):c.1365+1G>A	CERKL	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic

<< First< Prev

Page of 2