ClinVar for Gene (Select 166336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358967	NM_198859.4(PRICKLE2):c.637C>T (p.Arg213Ter)	PRICKLE2 (R213*)	Single nucleotide variant (nonsense)	PRICKLE2-associated neurodevelopmental disorder	GUncertain significance
Select item 3355595	NM_198859.4(PRICKLE2):c.1546C>T (p.Gln516Ter)	PRICKLE2 (Q516*)	Single nucleotide variant (nonsense)	PRICKLE2-related disorder	GUncertain significance
Select item 3350464	NM_198859.4(PRICKLE2):c.926C>T (p.Ala309Val)	PRICKLE2 (A309V)	Single nucleotide variant (missense variant)	PRICKLE2-related disorder	GUncertain significance
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 3218647	NM_198859.4(PRICKLE2):c.1327G>T (p.Gly443Cys)	PRICKLE2 (G443C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 3057513	NM_198859.4(PRICKLE2):c.120C>T (p.Val40=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	PRICKLE2-related disorder	GLikely benign
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 3014604	NM_198859.4(PRICKLE2):c.1543A>G (p.Thr515Ala)	PRICKLE2 (T515A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	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 2990511	NM_198859.4(PRICKLE2):c.633G>A (p.Glu211=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
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 2962656	NM_198859.4(PRICKLE2):c.896C>T (p.Pro299Leu)	PRICKLE2 (P299L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2962452	NM_198859.4(PRICKLE2):c.1143G>A (p.Leu381=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2918614	NM_198859.4(PRICKLE2):c.1208A>T (p.Tyr403Phe)	PRICKLE2 (Y403F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
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 2914377	NM_198859.4(PRICKLE2):c.1290A>G (p.Pro430=)	PRICKLE2	Single nucleotide variant (synonymous variant)	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 2905419	NM_198859.4(PRICKLE2):c.1512G>C (p.Glu504Asp)	PRICKLE2 (E504D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	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 2877316	NM_198859.4(PRICKLE2):c.50T>G (p.Met17Arg)	PRICKLE2, PRICKLE2-AS3 (M17R)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2876033	NM_198859.4(PRICKLE2):c.258+8del	PRICKLE2	Deletion (intron variant)	Progressive myoclonic epilepsy type 5	GBenign
Select item 2874501	NM_198859.4(PRICKLE2):c.1275A>G (p.Arg425=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2873178	NM_198859.4(PRICKLE2):c.788-28_788-20del	PRICKLE2	Deletion (intron variant)	Progressive myoclonic epilepsy type 5	GLikely benign
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 2857880	NM_198859.4(PRICKLE2):c.396+19G>A	PRICKLE2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2847116	NM_198859.4(PRICKLE2):c.780A>G (p.Gln260=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2834353	NM_198859.4(PRICKLE2):c.607T>C (p.Phe203Leu)	PRICKLE2 (F203L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
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 2831700	NM_198859.4(PRICKLE2):c.1091G>C (p.Arg364Pro)	PRICKLE2 (R364P)	Single nucleotide variant (missense variant)	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 2827846	NM_198859.4(PRICKLE2):c.1033G>A (p.Gly345Ser)	PRICKLE2 (G345S)	Single nucleotide variant (missense variant)	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 2806004	NM_198859.4(PRICKLE2):c.1189C>T (p.Arg397Trp)	PRICKLE2 (R397W)	Single nucleotide variant (missense variant)	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 2799873	NM_198859.4(PRICKLE2):c.145-15C>T	PRICKLE2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 5	GLikely benign
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 2786709	NM_198859.4(PRICKLE2):c.561T>C (p.His187=)	PRICKLE2	Single nucleotide variant (synonymous variant)	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 2759853	NM_198859.4(PRICKLE2):c.1116G>A (p.Leu372=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
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 2743780	NM_198859.4(PRICKLE2):c.30G>A (p.Glu10=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2742027	NM_198859.4(PRICKLE2):c.1376G>T (p.Gly459Val)	PRICKLE2 (G459V)	Single nucleotide variant (missense variant)	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 2740604	NM_198859.4(PRICKLE2):c.126G>A (p.Pro42=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2738338	NM_198859.4(PRICKLE2):c.424A>G (p.Ile142Val)	PRICKLE2 (I142V)	Single nucleotide variant (missense variant)	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 2732168	NM_198859.4(PRICKLE2):c.1059C>A (p.Asn353Lys)	PRICKLE2 (N353K)	Single nucleotide variant (missense variant)	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 2721868	NM_198859.4(PRICKLE2):c.661T>C (p.Cys221Arg)	PRICKLE2 (C221R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2720481	NM_198859.4(PRICKLE2):c.243G>A (p.Pro81=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2718839	NM_198859.4(PRICKLE2):c.1512G>A (p.Glu504=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2717120	NM_198859.4(PRICKLE2):c.578C>T (p.Pro193Leu)	PRICKLE2 (P193L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2709756	NM_198859.4(PRICKLE2):c.479T>G (p.Phe160Cys)	PRICKLE2 (F160C)	Single nucleotide variant (missense variant)	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 2689827	NM_198859.4(PRICKLE2):c.985G>T (p.Ala329Ser)	PRICKLE2 (A329S)	Single nucleotide variant (missense variant)	not provided	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 2595227	NM_198859.4(PRICKLE2):c.1652A>C (p.Asn551Thr)	PRICKLE2 (N551T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573038	NM_198859.4(PRICKLE2):c.600G>C (p.Glu200Asp)	PRICKLE2 (E200D)	Single nucleotide variant (missense variant)	Autosomal dominant non-syndromic intellectual disability	GUncertain significance
Select item 2572321	NM_198859.4(PRICKLE2):c.1502C>T (p.Pro501Leu)	PRICKLE2 (P501L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558475	NM_198859.4(PRICKLE2):c.961T>G (p.Ser321Ala)	PRICKLE2 (S321A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5 +1 more	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 2492076	NM_198859.4(PRICKLE2):c.1260C>G (p.Ser420Arg)	PRICKLE2 (S420R)	Single nucleotide variant (missense variant)	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 2422063	NM_198859.4(PRICKLE2):c.1449C>T (p.Tyr483=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2420830	NM_198859.4(PRICKLE2):c.263G>A (p.Arg88Gln)	PRICKLE2 (R88Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2315880	NM_198859.4(PRICKLE2):c.498T>G (p.Asn166Lys)	PRICKLE2 (N166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312339	NM_198859.4(PRICKLE2):c.531A>C (p.Gln177His)	PRICKLE2 (Q177H)	Single nucleotide variant (missense variant)	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 2287786	NM_198859.4(PRICKLE2):c.1349A>G (p.Lys450Arg)	PRICKLE2 (K450R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280849	NM_198859.4(PRICKLE2):c.715G>A (p.Gly239Arg)	PRICKLE2 (G239R)	Single nucleotide variant (missense variant)	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 2190956	NM_198859.4(PRICKLE2):c.453C>T (p.His151=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2172792	NM_198859.4(PRICKLE2):c.884G>A (p.Arg295Gln)	PRICKLE2 (R295Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2165959	NM_198859.4(PRICKLE2):c.1090C>T (p.Arg364Trp)	PRICKLE2 (R364W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2161702	NM_198859.4(PRICKLE2):c.1328G>A (p.Gly443Asp)	PRICKLE2 (G443D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2156933	NM_198859.4(PRICKLE2):c.741C>T (p.Phe247=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2153001	NM_198859.4(PRICKLE2):c.315C>T (p.Ser105=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2151822	NM_198859.4(PRICKLE2):c.1120C>T (p.Leu374=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
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 2138870	NM_198859.4(PRICKLE2):c.258+19C>T	PRICKLE2	Single nucleotide variant (intron variant)	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 2129755	NM_198859.4(PRICKLE2):c.39C>G (p.Ile13Met)	PRICKLE2, PRICKLE2-AS3 (I13M)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2119662	NM_198859.4(PRICKLE2):c.733C>A (p.His245Asn)	PRICKLE2 (H245N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2115603	NM_198859.4(PRICKLE2):c.1362A>C (p.Ser454=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
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 2085372	NM_198859.4(PRICKLE2):c.97G>T (p.Ala33Ser)	PRICKLE2, PRICKLE2-AS3 (A33S)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 2082829	NM_198859.4(PRICKLE2):c.1254C>G (p.Leu418=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2070782	NM_198859.4(PRICKLE2):c.1006C>T (p.Arg336Cys)	PRICKLE2 (R336C)	Single nucleotide variant (missense variant)	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)	Progressive myoclonic epilepsy type 5 +1 more	GUncertain significance

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