"Ambry Genetics"[submitter] AND "PRICKLE2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2291534	NM_198859.4(PRICKLE2):c.2524A>G (p.Ile842Val)	PRICKLE2-AS1, PRICKLE2 (I842V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 578987	NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln)	PRICKLE2, PRICKLE2-AS1 (H811Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	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)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases	GUncertain significance
Select item 2068724	NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln)	PRICKLE2-AS1, PRICKLE2 (R741Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive myoclonic epilepsy type 5 +1 more	GUncertain significance
Select item 198930	NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe)	PRICKLE2-AS1, PRICKLE2 (S740F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 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)	Inborn genetic diseases	GUncertain significance
Select item 946147	NM_198859.4(PRICKLE2):c.2009G>C (p.Arg670Pro)	PRICKLE2, PRICKLE2-AS1 (R670P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 544243	NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr)	PRICKLE2, PRICKLE2-AS1 (M665T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases	GUncertain significance
Select item 1002771	NM_198859.4(PRICKLE2):c.1809G>C (p.Glu603Asp)	PRICKLE2, PRICKLE2-AS1 (E603D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases	GUncertain significance
Select item 2595227	NM_198859.4(PRICKLE2):c.1652A>C (p.Asn551Thr)	PRICKLE2 (N551T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 664293	NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala)	PRICKLE2 (G511A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5 +1 more	GUncertain significance
Select item 2287786	NM_198859.4(PRICKLE2):c.1349A>G (p.Lys450Arg)	PRICKLE2 (K450R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492076	NM_198859.4(PRICKLE2):c.1260C>G (p.Ser420Arg)	PRICKLE2 (S420R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448120	NM_198859.4(PRICKLE2):c.1220T>C (p.Met407Thr)	PRICKLE2 (M407T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 645682	NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln)	PRICKLE2 (R364Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1990156	NM_198859.4(PRICKLE2):c.1055T>G (p.Leu352Arg)	PRICKLE2 (L352R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 198632	NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp)	PRICKLE2 (E349D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1019991	NM_198859.4(PRICKLE2):c.1007G>A (p.Arg336His)	PRICKLE2 (R336H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2280849	NM_198859.4(PRICKLE2):c.715G>A (p.Gly239Arg)	PRICKLE2 (G239R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1406329	NM_198859.4(PRICKLE2):c.638G>A (p.Arg213Gln)	PRICKLE2 (R213Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2312339	NM_198859.4(PRICKLE2):c.531A>C (p.Gln177His)	PRICKLE2 (Q177H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315880	NM_198859.4(PRICKLE2):c.498T>G (p.Asn166Lys)	PRICKLE2 (N166K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 346478	NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe)	PRICKLE2 (V164F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 846062	NM_198859.4(PRICKLE2):c.427G>A (p.Ala143Thr)	PRICKLE2 (A143T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 5 +1 more	GUncertain significance
Select item 544245	NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg)	PRICKLE2 (G134R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 284190	NM_198859.4(PRICKLE2):c.229C>G (p.Leu77Val)	PRICKLE2 (L77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 31