ClinVar for Gene (Select 100652759) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236647	NM_198859.4(PRICKLE2):c.2036_2049dup (p.Pro684fs)	PRICKLE2, PRICKLE2-AS1 (P684fs)	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3040573	NM_198859.4(PRICKLE2):c.2204G>C (p.Ser735Thr)	PRICKLE2, PRICKLE2-AS1 (S735T)	Single nucleotide variant (non-coding transcript variant +1 more)	PRICKLE2-related disorder	GUncertain significance
Select item 3008704	NM_198859.4(PRICKLE2):c.1832C>A (p.Ala611Asp)	PRICKLE2, PRICKLE2-AS1 (A611D)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2991138	NM_198859.4(PRICKLE2):c.2173C>A (p.Gln725Lys)	PRICKLE2, PRICKLE2-AS1 (Q725K)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2962899	NM_198859.4(PRICKLE2):c.2031C>T (p.Asp677=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2917294	NM_198859.4(PRICKLE2):c.2352T>G (p.Ser784=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2909752	NM_198859.4(PRICKLE2):c.1907A>T (p.His636Leu)	PRICKLE2, PRICKLE2-AS1 (H636L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2893153	NM_198859.4(PRICKLE2):c.2296G>A (p.Gly766Arg)	PRICKLE2, PRICKLE2-AS1 (G766R)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2871282	NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=)	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2832578	NM_198859.4(PRICKLE2):c.1722C>G (p.Asp574Glu)	PRICKLE2, PRICKLE2-AS1 (D574E)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2831647	NM_198859.4(PRICKLE2):c.1963C>G (p.Pro655Ala)	PRICKLE2-AS1, PRICKLE2 (P655A)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2825853	NM_198859.4(PRICKLE2):c.2183G>T (p.Arg728Leu)	PRICKLE2, PRICKLE2-AS1 (R728L)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2814223	NM_198859.4(PRICKLE2):c.1914G>T (p.Arg638Ser)	PRICKLE2, PRICKLE2-AS1 (R638S)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2803145	NM_198859.4(PRICKLE2):c.2375G>A (p.Gly792Glu)	PRICKLE2, PRICKLE2-AS1 (G792E)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2786983	NM_198859.4(PRICKLE2):c.2442C>T (p.Ser814=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2783845	NM_198859.4(PRICKLE2):c.2342C>T (p.Ser781Phe)	PRICKLE2, PRICKLE2-AS1 (S781F)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2777688	NM_198859.4(PRICKLE2):c.2126C>T (p.Ser709Phe)	PRICKLE2, PRICKLE2-AS1 (S709F)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2777622	NM_198859.4(PRICKLE2):c.2078C>G (p.Ser693Cys)	PRICKLE2, PRICKLE2-AS1 (S693C)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2759943	NM_198859.4(PRICKLE2):c.2434A>G (p.Lys812Glu)	PRICKLE2, PRICKLE2-AS1 (K812E)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2755252	NM_198859.4(PRICKLE2):c.2297G>T (p.Gly766Val)	PRICKLE2, PRICKLE2-AS1 (G766V)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2746591	NM_198859.4(PRICKLE2):c.2075G>A (p.Arg692His)	PRICKLE2, PRICKLE2-AS1 (R692H)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2741503	NM_198859.4(PRICKLE2):c.1817G>A (p.Arg606His)	PRICKLE2, PRICKLE2-AS1 (R606H)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2732366	NM_198859.4(PRICKLE2):c.2406A>G (p.Arg802=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2724024	NM_198859.4(PRICKLE2):c.2441G>A (p.Ser814Asn)	PRICKLE2, PRICKLE2-AS1 (S814N)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2708934	NM_198859.4(PRICKLE2):c.2164G>A (p.Asp722Asn)	PRICKLE2, PRICKLE2-AS1 (D722N)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2622932	NM_198859.4(PRICKLE2):c.2222G>T (p.Arg741Leu)	PRICKLE2, PRICKLE2-AS1 (R741L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2619262	NM_198859.4(PRICKLE2):c.2449G>A (p.Gly817Ser)	PRICKLE2, PRICKLE2-AS1 (G817S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547192	NM_198859.4(PRICKLE2):c.2065C>T (p.Arg689Cys)	PRICKLE2, PRICKLE2-AS1 (R689C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480111	NM_198859.4(PRICKLE2):c.1855G>A (p.Gly619Arg)	PRICKLE2, PRICKLE2-AS1 (G619R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294168	NM_198859.4(PRICKLE2):c.1755G>C (p.Glu585Asp)	PRICKLE2, PRICKLE2-AS1 (E585D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291534	NM_198859.4(PRICKLE2):c.2524A>G (p.Ile842Val)	PRICKLE2, PRICKLE2-AS1 (I842V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2198532	NM_198859.4(PRICKLE2):c.1681G>A (p.Ala561Thr)	PRICKLE2, PRICKLE2-AS1 (A561T)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2195962	NM_198859.4(PRICKLE2):c.2003G>A (p.Arg668His)	PRICKLE2, PRICKLE2-AS1 (R668H)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2192475	NM_198859.4(PRICKLE2):c.2416A>C (p.Ser806Arg)	PRICKLE2, PRICKLE2-AS1 (S806R)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2145289	NM_198859.4(PRICKLE2):c.2517A>G (p.Lys839=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2132597	NM_198859.4(PRICKLE2):c.2119G>A (p.Ala707Thr)	PRICKLE2, PRICKLE2-AS1 (A707T)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2092296	NM_198859.4(PRICKLE2):c.2266G>A (p.Ala756Thr)	PRICKLE2, PRICKLE2-AS1 (A756T)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2068724	NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln)	PRICKLE2, PRICKLE2-AS1 (R741Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2063180	NM_198859.4(PRICKLE2):c.1785G>A (p.Ser595=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2060819	NM_198859.4(PRICKLE2):c.2486A>G (p.Gln829Arg)	PRICKLE2, PRICKLE2-AS1 (Q829R)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2036068	NM_198859.4(PRICKLE2):c.2082C>T (p.Arg694=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2015406	NM_198859.4(PRICKLE2):c.2381C>A (p.Pro794His)	PRICKLE2, PRICKLE2-AS1 (P794H)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2013997	NM_198859.4(PRICKLE2):c.1676GTG[1] (p.Gly560del)	PRICKLE2, PRICKLE2-AS1 (G560del)	Microsatellite (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2001457	NM_198859.4(PRICKLE2):c.2121C>T (p.Ala707=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1995182	NM_198859.4(PRICKLE2):c.1798C>T (p.Arg600Trp)	PRICKLE2, PRICKLE2-AS1 (R600W)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1943387	NM_198859.4(PRICKLE2):c.2114G>A (p.Arg705His)	PRICKLE2, PRICKLE2-AS1 (R705H)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1908250	NM_198859.4(PRICKLE2):c.2020A>G (p.Thr674Ala)	PRICKLE2, PRICKLE2-AS1 (T674A)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1718461	NM_198859.4(PRICKLE2):c.1747G>A (p.Val583Met)	PRICKLE2, PRICKLE2-AS1 (V583M)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1645160	NM_198859.4(PRICKLE2):c.2085C>T (p.Ser695=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1624816	NM_198859.4(PRICKLE2):c.2121C>G (p.Ala707=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1623028	NM_198859.4(PRICKLE2):c.1661-19C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1604979	NM_198859.4(PRICKLE2):c.2169T>C (p.Tyr723=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1602478	NM_198859.4(PRICKLE2):c.2175A>G (p.Gln725=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1575422	NM_198859.4(PRICKLE2):c.1661-18C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1573537	NM_198859.4(PRICKLE2):c.1661-15T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1555124	NM_198859.4(PRICKLE2):c.1661-11C>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1551625	NM_198859.4(PRICKLE2):c.2526C>T (p.Ile842=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1535903	NM_198859.4(PRICKLE2):c.2445C>T (p.Ser815=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1523787	NM_198859.4(PRICKLE2):c.2182C>T (p.Arg728Cys)	PRICKLE2, PRICKLE2-AS1 (R728C)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1522312	NM_198859.4(PRICKLE2):c.2088C>A (p.Asp696Glu)	PRICKLE2-AS1, PRICKLE2 (D696E)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1521335	NM_198859.4(PRICKLE2):c.2114G>C (p.Arg705Pro)	PRICKLE2, PRICKLE2-AS1 (R705P)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1520075	NM_198859.4(PRICKLE2):c.1975G>A (p.Gly659Ser)	PRICKLE2, PRICKLE2-AS1 (G659S)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1519607	NM_198859.4(PRICKLE2):c.2473G>C (p.Gly825Arg)	PRICKLE2, PRICKLE2-AS1 (G825R)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1519107	NM_198859.4(PRICKLE2):c.1679G>C (p.Gly560Ala)	PRICKLE2-AS1, PRICKLE2 (G560A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1517578	NM_198859.4(PRICKLE2):c.2245C>G (p.Pro749Ala)	PRICKLE2, PRICKLE2-AS1 (P749A)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1515732	NM_198859.4(PRICKLE2):c.1943G>T (p.Gly648Val)	PRICKLE2, PRICKLE2-AS1 (G648V)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1513996	NM_198859.4(PRICKLE2):c.2080C>A (p.Arg694Ser)	PRICKLE2, PRICKLE2-AS1 (R694S)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1512175	NM_198859.4(PRICKLE2):c.2187G>C (p.Gln729His)	PRICKLE2, PRICKLE2-AS1 (Q729H)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1511330	NM_198859.4(PRICKLE2):c.2273A>C (p.Gln758Pro)	PRICKLE2, PRICKLE2-AS1 (Q758P)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1505980	NM_198859.4(PRICKLE2):c.1976G>A (p.Gly659Asp)	PRICKLE2, PRICKLE2-AS1 (G659D)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1489152	NM_198859.4(PRICKLE2):c.2039G>C (p.Arg680Pro)	PRICKLE2, PRICKLE2-AS1 (R680P)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1480215	NM_198859.4(PRICKLE2):c.1687C>T (p.Arg563Cys)	PRICKLE2, PRICKLE2-AS1 (R563C)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1473053	NM_198859.4(PRICKLE2):c.2174A>G (p.Gln725Arg)	PRICKLE2, PRICKLE2-AS1 (Q725R)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1429476	NM_198859.4(PRICKLE2):c.1977C>G (p.Gly659=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1416967	NM_198859.4(PRICKLE2):c.1850T>C (p.Met617Thr)	PRICKLE2, PRICKLE2-AS1 (M617T)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1405443	NM_198859.4(PRICKLE2):c.2230C>A (p.Leu744Met)	PRICKLE2, PRICKLE2-AS1 (L744M)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1401438	NM_198859.4(PRICKLE2):c.1688G>A (p.Arg563His)	PRICKLE2, PRICKLE2-AS1 (R563H)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1390162	NM_198859.4(PRICKLE2):c.2426T>G (p.Leu809Arg)	PRICKLE2, PRICKLE2-AS1 (L809R)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1388536	NM_198859.4(PRICKLE2):c.1797C>A (p.Phe599Leu)	PRICKLE2, PRICKLE2-AS1 (F599L)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1385012	NM_198859.4(PRICKLE2):c.1804G>A (p.Ala602Thr)	PRICKLE2, PRICKLE2-AS1 (A602T)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1383472	NM_198859.4(PRICKLE2):c.2234A>G (p.Tyr745Cys)	PRICKLE2, PRICKLE2-AS1 (Y745C)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1372929	NM_198859.4(PRICKLE2):c.1862_1864del (p.Leu621del)	PRICKLE2, PRICKLE2-AS1 (L621del)	Deletion (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1372535	NM_198859.4(PRICKLE2):c.2237G>T (p.Gly746Val)	PRICKLE2, PRICKLE2-AS1 (G746V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1368807	NM_198859.4(PRICKLE2):c.1851G>A (p.Met617Ile)	PRICKLE2, PRICKLE2-AS1 (M617I)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1356443	NM_198859.4(PRICKLE2):c.2358C>G (p.Asn786Lys)	PRICKLE2, PRICKLE2-AS1 (N786K)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1341805	NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu)	PRICKLE2, PRICKLE2-AS1 (P749L)	Single nucleotide variant (non-coding transcript variant +1 more)	myoclonic epilepsy +1 more	GUncertain significance
Select item 1325551	NM_198859.4(PRICKLE2):c.1706G>A (p.Arg569Gln)	PRICKLE2, PRICKLE2-AS1 (R569Q)	Single nucleotide variant (non-coding transcript variant +1 more)	myoclonic epilepsy	GUncertain significance
Select item 1161513	NM_198859.4(PRICKLE2):c.2274G>A (p.Gln758=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1156678	NM_198859.4(PRICKLE2):c.1950G>A (p.Ala650=)	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1151738	NM_198859.4(PRICKLE2):c.2343T>C (p.Ser781=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1150580	NM_198859.4(PRICKLE2):c.2493C>T (p.His831=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1144472	NM_198859.4(PRICKLE2):c.1944G>C (p.Gly648=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1122165	NM_198859.4(PRICKLE2):c.2457C>G (p.Pro819=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1121233	NM_198859.4(PRICKLE2):c.2184C>A (p.Arg728=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1118882	NM_198859.4(PRICKLE2):c.2127C>T (p.Ser709=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1112472	NM_198859.4(PRICKLE2):c.1737T>C (p.Ser579=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1096633	NM_198859.4(PRICKLE2):c.1701A>G (p.Leu567=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1087274	NM_198859.4(PRICKLE2):c.1959G>A (p.Lys653=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1083654	NM_198859.4(PRICKLE2):c.2244C>T (p.Cys748=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1081212	NM_198859.4(PRICKLE2):c.2259G>A (p.Ser753=)	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5 +1 more	GLikely benign

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