Related gene-specific medical variations for Gene (Select 144165) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366480	NM_153026.3(PRICKLE1):c.820G>A (p.Ala274Thr)	LOC126861509, PRICKLE1 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3360919	NM_153026.3(PRICKLE1):c.1809T>A (p.Cys603Ter)	PRICKLE1 (C603*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3309908	NM_153026.3(PRICKLE1):c.889C>A (p.Gln297Lys)	LOC126861509, PRICKLE1 (Q297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063240	GRCh37/hg19 12q12(chr12:42870778-42897139)x1	PRICKLE1	Copy number loss	not specified	GUncertain significance
Select item 2888887	NM_153026.3(PRICKLE1):c.1095C>A (p.Gly365=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2708147	NM_153026.3(PRICKLE1):c.1260C>T (p.Leu420=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2689826	NM_153026.3(PRICKLE1):c.2053A>G (p.Asn685Asp)	PRICKLE1 (N685D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2689825	NM_153026.3(PRICKLE1):c.14T>C (p.Met5Thr)	PRICKLE1 (M5T)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2211231	NM_153026.3(PRICKLE1):c.1160T>C (p.Phe387Ser)	LOC126861509, PRICKLE1 (F387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2166844	NM_153026.3(PRICKLE1):c.991C>A (p.Arg331=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2162934	NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr)	LOC126861509, PRICKLE1 (H273Y)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2160805	NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu)	LOC126861509, PRICKLE1 (D344E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2142056	NM_153026.3(PRICKLE1):c.1035G>A (p.Gln345=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2140507	NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu)	LOC126861509, PRICKLE1 (D410E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2103938	NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=)	LOC130007700, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2101473	NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys)	LOC130007700, PRICKLE1 (E92K)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2091916	NM_153026.3(PRICKLE1):c.1050C>T (p.Leu350=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2085351	NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg)	LOC126861509, PRICKLE1 (C346R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1994110	NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala)	LOC126861509, PRICKLE1 (S280A)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1800839	NM_153026.3(PRICKLE1):c.845C>T (p.Ala282Val)	LOC126861509, PRICKLE1 (A282V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1771210	NM_153026.3(PRICKLE1):c.1031A>G (p.Asp344Gly)	LOC126861509, PRICKLE1 (D344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770320	NM_153026.3(PRICKLE1):c.1029A>C (p.Ala343=)	PRICKLE1, LOC126861509	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +1 more	GLikely benign
Select item 1728796	NM_153026.3(PRICKLE1):c.1132C>T (p.Leu378=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1715942	NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn)	LOC126861509, PRICKLE1 (T370N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1713480	NM_153026.3(PRICKLE1):c.1213C>G (p.Pro405Ala)	LOC126861509, PRICKLE1 (P405A)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1700880	NM_153026.3(PRICKLE1):c.-48-11145G>T	LOC130007707, PRICKLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664507	NM_153026.3(PRICKLE1):c.1092A>G (p.Ser364=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1656380	NM_153026.3(PRICKLE1):c.936C>T (p.Val312=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1574831	NM_153026.3(PRICKLE1):c.1230T>C (p.Asp410=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1527706	GRCh37/hg19 12q12(chr12:42953596-43480394)	PRICKLE1	Copy number loss	not specified	GUncertain significance
Select item 1514246	NM_153026.3(PRICKLE1):c.1154C>T (p.Thr385Ile)	LOC126861509, PRICKLE1 (T385I)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1507937	NM_153026.3(PRICKLE1):c.1258C>T (p.Leu420Phe)	LOC126861509, PRICKLE1 (L420F)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1476460	NM_153026.3(PRICKLE1):c.997A>G (p.Ser333Gly)	LOC126861509, PRICKLE1 (S333G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1450663	NM_153026.3(PRICKLE1):c.1194G>T (p.Glu398Asp)	LOC126861509, PRICKLE1 (E398D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1444328	NM_153026.3(PRICKLE1):c.1058C>T (p.Ser353Leu)	LOC126861509, PRICKLE1 (S353L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1442672	NM_153026.3(PRICKLE1):c.1021C>T (p.Arg341Trp)	LOC126861509, PRICKLE1 (R341W)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1430931	NM_153026.3(PRICKLE1):c.1192G>C (p.Glu398Gln)	LOC126861509, PRICKLE1 (E398Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1428491	NM_153026.3(PRICKLE1):c.986A>G (p.Asp329Gly)	LOC126861509, PRICKLE1 (D329G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1416382	NM_153026.3(PRICKLE1):c.778G>A (p.Val260Met)	LOC126861509, PRICKLE1 (V260M)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1407056	NM_153026.3(PRICKLE1):c.1219G>A (p.Glu407Lys)	LOC126861509, PRICKLE1 (E407K)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1395713	NM_153026.3(PRICKLE1):c.1124T>C (p.Leu375Ser)	LOC126861509, PRICKLE1 (L375S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1378942	NM_153026.3(PRICKLE1):c.266T>A (p.Leu89Ter)	LOC130007700, PRICKLE1 (L89*)	Single nucleotide variant (nonsense)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1376932	NM_153026.3(PRICKLE1):c.820G>C (p.Ala274Pro)	LOC126861509, PRICKLE1 (A274P)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1357954	NM_153026.3(PRICKLE1):c.857C>A (p.Ala286Asp)	LOC126861509, PRICKLE1 (A286D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1353024	NM_153026.3(PRICKLE1):c.987C>G (p.Asp329Glu)	LOC126861509, PRICKLE1 (D329E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1325542	NM_153026.3(PRICKLE1):c.1725G>T (p.Glu575Asp)	PRICKLE1 (E575D)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1325519	NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln)	LOC126861509, PRICKLE1 (K304Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1295805	NM_153026.3(PRICKLE1):c.-48-10599C>A	LOC130007705, PRICKLE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254379	NM_153026.3(PRICKLE1):c.-48-10607G>A	LOC130007705, PRICKLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178186	NM_153026.3(PRICKLE1):c.-48-11001C>T	LOC130007707, PRICKLE1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1153402	NM_153026.3(PRICKLE1):c.1242T>C (p.Tyr414=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1147418	NM_153026.3(PRICKLE1):c.1107C>T (p.Asp369=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1139596	NM_153026.3(PRICKLE1):c.939T>C (p.His313=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1124001	NM_153026.3(PRICKLE1):c.933C>T (p.Asp311=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1115092	NM_153026.3(PRICKLE1):c.804C>T (p.Asp268=)	PRICKLE1, LOC126861509	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1107230	NM_153026.3(PRICKLE1):c.1059G>A (p.Ser353=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1101591	NM_153026.3(PRICKLE1):c.825G>A (p.Thr275=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1078015	NM_153026.3(PRICKLE1):c.864G>A (p.Leu288=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1059366	NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu)	LOC126861509, PRICKLE1 (K338E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1046392	NM_153026.3(PRICKLE1):c.1103A>G (p.Asp368Gly)	LOC126861509, PRICKLE1 (D368G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1043807	NM_153026.3(PRICKLE1):c.251G>A (p.Arg84Gln)	LOC130007700, PRICKLE1 (R84Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1025395	NM_153026.3(PRICKLE1):c.1208A>G (p.Glu403Gly)	LOC126861509, PRICKLE1 (E403G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1023488	NM_153026.3(PRICKLE1):c.287_288del (p.Glu96fs)	LOC130007700, PRICKLE1 (E96fs)	Microsatellite (frameshift variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1006994	NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs)	LOC126861509, PRICKLE1 (S317fs)	Duplication (frameshift variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1006635	NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp)	LOC130007700, PRICKLE1 (R84W)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1002582	NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His)	LOC126861509, PRICKLE1 (Y414H)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 999409	NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp)	PRICKLE1, LOC126861509 (E391D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 977338	NM_153026.3(PRICKLE1):c.-48-11193G>A	PRICKLE1	Single nucleotide variant (intron variant +1 more)	Focal impaired awareness seizure	GUncertain significance
Select item 961932	NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser)	LOC126861509, PRICKLE1 (P354S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 961081	NM_153026.3(PRICKLE1):c.898A>C (p.Ile300Leu)	LOC126861509, PRICKLE1 (I300L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 960539	NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala)	LOC130007700, PRICKLE1 (E107A)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 942533	NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg)	LOC126861509, PRICKLE1 (S379R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 937910	NM_153026.3(PRICKLE1):c.1165A>G (p.Ser389Gly)	LOC126861509, PRICKLE1 (S389G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 929390	GRCh37/hg19 12q12(chr12:42871679-42898233)x1	PRICKLE1	Copy number loss	See cases	GLikely pathogenic
Select item 872631	NM_153026.3(PRICKLE1):c.1108A>G (p.Thr370Ala)	LOC126861509, PRICKLE1 (T370A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856256	NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His)	LOC126861509, PRICKLE1 (L363H)	Indel (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 856032	NM_153026.3(PRICKLE1):c.977G>A (p.Arg326Gln)	PRICKLE1, LOC126861509 (R326Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 850823	NM_153026.3(PRICKLE1):c.319G>C (p.Glu107Gln)	LOC130007700, PRICKLE1 (E107Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 844007	NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg)	LOC126861509, PRICKLE1 (G269R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 671547	NM_153026.3(PRICKLE1):c.776-258C>G	LOC126861509, PRICKLE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669485	NM_153026.3(PRICKLE1):c.775+257G>A	LOC126861509, PRICKLE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 665832	NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)	LOC126861509, PRICKLE1 (R341Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 661488	NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met)	PRICKLE1, LOC126861509 (T305M)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 657696	NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)	LOC126861509, PRICKLE1 (L419F)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 590028	NM_153026.3(PRICKLE1):c.1118G>A (p.Arg373Gln)	LOC126861509, PRICKLE1 (R373Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 589989	NM_153026.3(PRICKLE1):c.857C>T (p.Ala286Val)	LOC126861509, PRICKLE1 (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 537249	NM_153026.3(PRICKLE1):c.249A>G (p.Val83=)	LOC130007700, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 537247	NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=)	LOC130007700, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +1 more	GLikely benign
Select item 517960	NM_153026.3(PRICKLE1):c.247-10T>C	LOC130007700, PRICKLE1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 516509	NM_153026.3(PRICKLE1):c.776-14C>T	LOC126861509, PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B +1 more	GLikely benign
Select item 514487	NM_153026.3(PRICKLE1):c.776-16A>G	LOC126861509, PRICKLE1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 502221	NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys)	LOC126861509, PRICKLE1 (Q270K)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 469516	NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 469515	NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp)	LOC126861509, PRICKLE1 (G259D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 469502	NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met)	LOC126861509, PRICKLE1 (T416M)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 469501	NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln)	LOC126861509, PRICKLE1 (R335Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 449601	NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln)	LOC126861509, PRICKLE1 (K285Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 419289	NM_153026.3(PRICKLE1):c.1243A>G (p.Met415Val)	PRICKLE1, LOC126861509 (M415V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 410636	NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln)	PRICKLE1, LOC126861509 (R331Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 386553	NM_153026.3(PRICKLE1):c.819C>T (p.His273=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +1 more	GLikely benign

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