"Athena Diagnostics"[submitter] AND "PRICKLE2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198930	NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe)	PRICKLE2, PRICKLE2-AS1 (S740F)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5 +2 more	GUncertain significance
Select item 448121	NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5 +3 more	GBenign/Likely benign
Select item 805240	NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys)	PRICKLE2 (M441K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5 +1 more	GUncertain significance
Select item 448120	NM_198859.4(PRICKLE2):c.1220T>C (p.Met407Thr)	PRICKLE2 (M407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 586374	NM_198859.4(PRICKLE2):c.1134G>T (p.Met378Ile)	PRICKLE2 (M378I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 346475	NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)	PRICKLE2 (P350S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 287547	NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5 +2 more	GBenign
Select item 130137	NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)	PRICKLE2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 448123	NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5 +2 more	GConflicting classifications of pathogenicity
Select item 130034	NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)	PRICKLE2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 242689	NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)	PRICKLE2 (V153I)	Single nucleotide variant (missense variant)	Myoclonic epilepsy, progressive, X-linked +4 more	GConflicting classifications of pathogenicity
Select item 448122	NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser)	PRICKLE2 (A149S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 478006	NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=)	PRICKLE2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 5 +2 more	GBenign/Likely benign
Select item 586375	NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser)	PRICKLE2 (N138S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5 +1 more	GUncertain significance
Select item 805241	NM_198859.4(PRICKLE2):c.330C>G (p.Arg110=)	PRICKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130033	NM_198859.4(PRICKLE2):c.259-6A>G	PRICKLE2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 5 +2 more	GBenign
Select item 767014	NM_198859.4(PRICKLE2):c.145-4T>G	PRICKLE2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 5 +1 more	GBenign