"Invitae"[submitter] AND "PRICKLE1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 471

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584101	NC_000012.11:g.(?_42853591)_(42866338_?)dup	LOC126861509, LOC130007700 +2 more	Duplication	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1086873	NM_153026.3(PRICKLE1):c.2487T>C (p.Ile829=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 750892	NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 469510	NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser)	PRICKLE1 (G825S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1091262	NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1514589	NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val)	PRICKLE1 (G822V)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1377929	NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg)	PRICKLE1 (K820R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1038526	NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln)	PRICKLE1 (K820Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1044988	NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu)	PRICKLE1 (K816E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 416260	NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +2 more	GLikely benign
Select item 537239	NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser)	PRICKLE1 (G811S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1041337	NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu)	PRICKLE1 (Q809E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1422114	NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu)	PRICKLE1 (P808L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 939684	NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr)	PRICKLE1 (P808T)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2417269	NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)	PRICKLE1 (T807I)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1415945	NM_153026.3(PRICKLE1):c.2413C>G (p.Leu805Val)	PRICKLE1 (L805V)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2742883	NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2163705	NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 206656	NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser)	PRICKLE1 (P802S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1123135	NM_153026.3(PRICKLE1):c.2403A>T (p.Pro801=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2955120	NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser)	PRICKLE1 (P801S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1652950	NM_153026.3(PRICKLE1):c.2388T>C (p.Asp796=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1079411	NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 570567	NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His)	PRICKLE1 (Y794H)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1369847	NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln)	PRICKLE1 (R787Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 374057	NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp)	PRICKLE1 (R787W)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 575160	NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly)	PRICKLE1 (E775G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 241996	NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=)	PRICKLE1	Single nucleotide variant (synonymous variant)	PRICKLE1-related condition +2 more	GLikely benign
Select item 1038611	NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn)	PRICKLE1 (D771N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 96507	NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=)	PRICKLE1	Single nucleotide variant (synonymous variant)	PRICKLE1-related condition +3 more	GBenign/Likely benign
Select item 935336	NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe)	PRICKLE1 (S766F)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 572581	NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del)	PRICKLE1 (D760del)	Microsatellite (inframe_deletion)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 957363	NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly)	PRICKLE1 (D759G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 206655	NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys)	PRICKLE1 (E757K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1008065	NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg)	PRICKLE1 (G756R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 507055	NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=)	PRICKLE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 167530	NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=)	PRICKLE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1056183	NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro)	PRICKLE1 (L752P)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 969020	NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln)	PRICKLE1 (R750Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1024106	NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His)	PRICKLE1 (N749H)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 130026	NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)	PRICKLE1 (P746S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1651178	NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1043308	NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val)	PRICKLE1 (G742V)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 206673	NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser)	PRICKLE1 (G742S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2421758	NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)	PRICKLE1 (D740N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1485999	NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr)	PRICKLE1 (D740Y)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 198918	NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)	PRICKLE1 (S739F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1519882	NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del)	PRICKLE1	Deletion (inframe_deletion)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 698921	NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +1 more	GLikely benign
Select item 537252	NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg)	PRICKLE1 (G732R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 383265	NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=)	PRICKLE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 834928	NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys)	PRICKLE1 (Y731C)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 509825	NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +2 more	GLikely benign
Select item 537243	NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met)	PRICKLE1 (I725M)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 941993	NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met)	PRICKLE1 (I721M)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 765968	NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1507517	NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu)	PRICKLE1 (R719L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 948523	NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln)	PRICKLE1 (R719Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 206677	NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp)	PRICKLE1 (R719W)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1786647	NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)	PRICKLE1 (N715K)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 940233	NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu)	PRICKLE1 (Q714L)	Indel (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 950794	NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys)	PRICKLE1 (Y709C)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1056459	NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp)	PRICKLE1 (N708D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1427550	NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly)	PRICKLE1 (D707G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2882388	NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1989521	NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)	PRICKLE1 (P706S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1968009	NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1931473	NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)	PRICKLE1 (Y704F)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1140942	NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1000177	NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val)	PRICKLE1 (L703V)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 198920	NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln)	PRICKLE1 (R702Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 588440	NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp)	PRICKLE1 (R702W)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 469509	NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu)	PRICKLE1 (D699E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2010657	NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 509334	NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +1 more	GLikely benign
Select item 537245	NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser)	PRICKLE1 (P697S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1014739	NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg)	PRICKLE1 (K694R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 130025	NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)	PRICKLE1 (T691A)	Single nucleotide variant (missense variant)	PRICKLE1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 385233	NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +2 more	GLikely benign
Select item 2165340	NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)	PRICKLE1 (N685S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1965796	NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)	PRICKLE1 (D684N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1002752	NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His)	PRICKLE1 (R682H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1036235	NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys)	PRICKLE1 (R682C)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 2070816	NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)	PRICKLE1 (R677S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1084575	NM_153026.3(PRICKLE1):c.2029A>C (p.Arg677=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 289511	NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln)	PRICKLE1 (R676Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 842601	NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp)	PRICKLE1 (R676W)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1434547	NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His)	PRICKLE1 (R675H)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1406157	NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro)	PRICKLE1 (R674P)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1213808	NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His)	PRICKLE1 (R674H)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2789730	NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)	PRICKLE1 (R674C)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 537244	NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu)	PRICKLE1 (H671L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 970481	NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs)	PRICKLE1 (N662fs)	Indel (frameshift variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 469508	NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 206654	NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser)	PRICKLE1 (N662S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GConflicting classifications of pathogenicity
Select item 1359196	NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile)	PRICKLE1 (V660I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1117395	NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1571705	NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2081525	NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)	PRICKLE1 (R657Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1415690	NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile)	PRICKLE1 (M652I)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance

<< First< Prev

Page of 5