20340[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +105 more	Copy number loss	See cases	GPathogenic
Select item 150515	GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1	ATXN7, C3orf49 +24 more	Copy number loss	See cases	GUncertain significance
Select item 903644	NM_198859.4(PRICKLE2):c.*5092T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346413	NM_198859.4(PRICKLE2):c.*4994C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 903645	NM_198859.4(PRICKLE2):c.*4877C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346414	NM_198859.4(PRICKLE2):c.*4861dup	PRICKLE2, PRICKLE2-AS1	Duplication (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346415	NM_198859.4(PRICKLE2):c.*4797G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 346416	NM_198859.4(PRICKLE2):c.*4787T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900051	NM_198859.4(PRICKLE2):c.*4769A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346417	NM_198859.4(PRICKLE2):c.*4733G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 346418	NM_198859.4(PRICKLE2):c.*4595T>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900052	NM_198859.4(PRICKLE2):c.*4531T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900053	NM_198859.4(PRICKLE2):c.*4472G>T	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346419	NM_198859.4(PRICKLE2):c.*4455A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901207	NM_198859.4(PRICKLE2):c.*4354C>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 346420	NM_198859.4(PRICKLE2):c.*4330A>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346421	NM_198859.4(PRICKLE2):c.*4257T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346422	NM_198859.4(PRICKLE2):c.*4238C>T	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 901208	NM_198859.4(PRICKLE2):c.*4196T>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901209	NM_198859.4(PRICKLE2):c.*4182T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346423	NM_198859.4(PRICKLE2):c.*4109C>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346424	NM_198859.4(PRICKLE2):c.*4071A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346425	NM_198859.4(PRICKLE2):c.*4057G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 346426	NM_198859.4(PRICKLE2):c.*3864T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346427	NM_198859.4(PRICKLE2):c.*3862C>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901755	NM_198859.4(PRICKLE2):c.*3852C>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 901756	NM_198859.4(PRICKLE2):c.*3830T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901757	NM_198859.4(PRICKLE2):c.*3755A>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346428	NM_198859.4(PRICKLE2):c.*3755A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901758	NM_198859.4(PRICKLE2):c.*3672C>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902658	NM_198859.4(PRICKLE2):c.*3632T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902659	NM_198859.4(PRICKLE2):c.*3540C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902660	NM_198859.4(PRICKLE2):c.*3504C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902661	NM_198859.4(PRICKLE2):c.*3501C>G	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902662	NM_198859.4(PRICKLE2):c.*3496G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346429	NM_198859.4(PRICKLE2):c.*3491A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 902663	NM_198859.4(PRICKLE2):c.*3489G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 902664	NM_198859.4(PRICKLE2):c.*3358T>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900111	NM_198859.4(PRICKLE2):c.*3343G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346430	NM_198859.4(PRICKLE2):c.*3333T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 900112	NM_198859.4(PRICKLE2):c.*3325G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346431	NM_198859.4(PRICKLE2):c.*3178G>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 900113	NM_198859.4(PRICKLE2):c.*3116C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900114	NM_198859.4(PRICKLE2):c.*3065C>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346432	NM_198859.4(PRICKLE2):c.2980_2981dup	PRICKLE2-AS1, PRICKLE2	Duplication (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346433	NM_198859.4(PRICKLE2):c.*2909T>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346434	NM_198859.4(PRICKLE2):c.*2891C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 346435	NM_198859.4(PRICKLE2):c.*2856C>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346436	NM_198859.4(PRICKLE2):c.*2797A>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 346437	NM_198859.4(PRICKLE2):c.*2782C>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346438	NM_198859.4(PRICKLE2):c.*2772A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 346439	NM_198859.4(PRICKLE2):c.*2724C>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 901278	NM_198859.4(PRICKLE2):c.*2666G>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901279	NM_198859.4(PRICKLE2):c.*2633G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 346440	NM_198859.4(PRICKLE2):c.*2567A>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 901825	NM_198859.4(PRICKLE2):c.*2475G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346441	NM_198859.4(PRICKLE2):c.*2447G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GBenign
Select item 901826	NM_198859.4(PRICKLE2):c.*2391C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346442	NM_198859.4(PRICKLE2):c.2288_2296delinsT	PRICKLE2, PRICKLE2-AS1	Indel (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901827	NM_198859.4(PRICKLE2):c.*2290T>C	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346443	NM_198859.4(PRICKLE2):c.*2288C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346444	NM_198859.4(PRICKLE2):c.*2269T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 346445	NM_198859.4(PRICKLE2):c.*2207C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902728	NM_198859.4(PRICKLE2):c.*2102G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902729	NM_198859.4(PRICKLE2):c.*2089C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346446	NM_198859.4(PRICKLE2):c.*1991C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 902730	NM_198859.4(PRICKLE2):c.*1982A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346447	NM_198859.4(PRICKLE2):c.*1970T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346448	NM_198859.4(PRICKLE2):c.*1964C>T	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346449	NM_198859.4(PRICKLE2):c.*1868G>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346450	NM_198859.4(PRICKLE2):c.*1763G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GBenign
Select item 902731	NM_198859.4(PRICKLE2):c.*1682C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900176	NM_198859.4(PRICKLE2):c.*1647T>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900177	NM_198859.4(PRICKLE2):c.*1633G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 900178	NM_198859.4(PRICKLE2):c.*1621A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346451	NM_198859.4(PRICKLE2):c.*1605T>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GBenign
Select item 346452	NM_198859.4(PRICKLE2):c.*1589G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GBenign
Select item 346453	NM_198859.4(PRICKLE2):c.*1568C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346454	NM_198859.4(PRICKLE2):c.*1560C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901339	NM_198859.4(PRICKLE2):c.*1508A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346455	NM_198859.4(PRICKLE2):c.*1495T>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346456	NM_198859.4(PRICKLE2):c.*1476A>G	PRICKLE2-AS1, PRICKLE2	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346457	NM_198859.4(PRICKLE2):c.*1310C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GBenign
Select item 901340	NM_198859.4(PRICKLE2):c.*1292A>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346458	NM_198859.4(PRICKLE2):c.*1277C>G	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GBenign
Select item 901341	NM_198859.4(PRICKLE2):c.*1274C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901342	NM_198859.4(PRICKLE2):c.*1157G>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346459	NM_198859.4(PRICKLE2):c.*1114C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901894	NM_198859.4(PRICKLE2):c.*1044C>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GBenign
Select item 346460	NM_198859.4(PRICKLE2):c.*995C>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 901895	NM_198859.4(PRICKLE2):c.*943G>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346461	NM_198859.4(PRICKLE2):c.*792dup	PRICKLE2, PRICKLE2-AS1	Duplication (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346462	NM_198859.4(PRICKLE2):c.*695A>C	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GBenign
Select item 346463	NM_198859.4(PRICKLE2):c.*690G>A	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346464	NM_198859.4(PRICKLE2):c.*584del	PRICKLE2, PRICKLE2-AS1	Deletion (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346466	NM_198859.4(PRICKLE2):c.*581dup	PRICKLE2, PRICKLE2-AS1	Duplication (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 346465	NM_198859.4(PRICKLE2):c.*582A>T	PRICKLE2, PRICKLE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance

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