100874243[Gene ID] - ClinVar

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Items: 29

	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 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 150515	GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1	ATXN7, C3orf49 +25 more	Copy number loss	See cases	GUncertain significance
Select item 1574239	NM_198859.4(PRICKLE2):c.144+19G>A	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 2028997	NM_198859.4(PRICKLE2):c.144+12G>T	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 130031	NM_198859.4(PRICKLE2):c.144+10T>C	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5 +1 more	GBenign
Select item 1490263	NM_198859.4(PRICKLE2):c.144+6A>G	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1413578	NM_198859.4(PRICKLE2):c.144+3A>G	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1672991	NM_198859.4(PRICKLE2):c.141A>G (p.Glu47=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
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 167532	NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1064438	NM_198859.4(PRICKLE2):c.122C>T (p.Pro41Leu)	PRICKLE2, PRICKLE2-AS3 (P41L)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GLikely pathogenic
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 1714443	NM_198859.4(PRICKLE2):c.98C>T (p.Ala33Val)	PRICKLE2, PRICKLE2-AS3 (A33V)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 1041252	NM_198859.4(PRICKLE2):c.98C>G (p.Ala33Gly)	PRICKLE2, PRICKLE2-AS3 (A33G)	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 730472	NM_198859.4(PRICKLE2):c.81T>C (p.Asp27=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 544247	NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1449771	NM_198859.4(PRICKLE2):c.63G>C (p.Gln21His)	PRICKLE2, PRICKLE2-AS3 (Q21H)	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 949446	NM_198859.4(PRICKLE2):c.49A>G (p.Met17Val)	PRICKLE2, PRICKLE2-AS3 (M17V)	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 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 1121008	NM_198859.4(PRICKLE2):c.18G>A (p.Pro6=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GLikely benign
Select item 1942617	NM_198859.4(PRICKLE2):c.17C>T (p.Pro6Leu)	PRICKLE2, PRICKLE2-AS3 (P6L)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GUncertain significance
Select item 750610	NM_198859.4(PRICKLE2):c.6G>A (p.Val2=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5	GBenign
Select item 346479	NM_198859.4(PRICKLE2):c.-13C>G	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance

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Items: 29