ClinVar for Gene (Select 144165) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3424933	NM_153026.3(PRICKLE1):c.859T>G (p.Ser287Ala)	LOC126861509, PRICKLE1 (S287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3389587	NM_153026.3(PRICKLE1):c.2242A>G (p.Met748Val)	PRICKLE1 (M748V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3385222	NM_153026.3(PRICKLE1):c.-11C>A	PRICKLE1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3366480	NM_153026.3(PRICKLE1):c.820G>A (p.Ala274Thr)	LOC126861509, PRICKLE1 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3360919	NM_153026.3(PRICKLE1):c.1809T>A (p.Cys603Ter)	PRICKLE1 (C603*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3338529	NM_153026.3(PRICKLE1):c.1639+462C>G	PRICKLE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338523	NM_153026.3(PRICKLE1):c.1639+903C>A	PRICKLE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3309908	NM_153026.3(PRICKLE1):c.889C>A (p.Gln297Lys)	LOC126861509, PRICKLE1 (Q297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309907	NM_153026.3(PRICKLE1):c.2363C>T (p.Pro788Leu)	PRICKLE1 (P788L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218646	NM_153026.3(PRICKLE1):c.539G>T (p.Gly180Val)	PRICKLE1 (G180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218645	NM_153026.3(PRICKLE1):c.2303C>T (p.Ser768Phe)	PRICKLE1 (S768F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218644	NM_153026.3(PRICKLE1):c.1372A>C (p.Asn458His)	PRICKLE1 (N458H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218643	NM_153026.3(PRICKLE1):c.136C>A (p.Gln46Lys)	PRICKLE1 (Q46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064067	NM_153026.3(PRICKLE1):c.2287T>A (p.Cys763Ser)	PRICKLE1 (C763S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 3063240	GRCh37/hg19 12q12(chr12:42870778-42897139)x1	PRICKLE1	Copy number loss	not specified	GUncertain significance
Select item 3052554	NM_153026.3(PRICKLE1):c.1440G>A (p.Leu480=)	PRICKLE1	Single nucleotide variant (synonymous variant)	PRICKLE1-related disorder	GLikely benign
Select item 2979818	NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2955120	NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser)	PRICKLE1 (P801S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2888887	NM_153026.3(PRICKLE1):c.1095C>A (p.Gly365=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2882388	NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2880736	NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2789730	NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)	PRICKLE1 (R674C)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2786986	NM_153026.3(PRICKLE1):c.588+17C>T	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2779296	NM_153026.3(PRICKLE1):c.384+11C>T	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2772625	NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu)	PRICKLE1 (G64E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2769905	NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2760889	NM_153026.3(PRICKLE1):c.1557T>C (p.Asp519=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2742883	NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2732084	NM_153026.3(PRICKLE1):c.1639+15G>T	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2727194	NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met)	PRICKLE1 (V125M)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GBenign
Select item 2721128	NM_153026.3(PRICKLE1):c.132+20A>G	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2710082	NM_153026.3(PRICKLE1):c.1875A>G (p.Gln625=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2708147	NM_153026.3(PRICKLE1):c.1260C>T (p.Leu420=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2707970	NM_153026.3(PRICKLE1):c.133-9C>G	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2706589	NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2702841	NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2689826	NM_153026.3(PRICKLE1):c.2053A>G (p.Asn685Asp)	PRICKLE1 (N685D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2689825	NM_153026.3(PRICKLE1):c.14T>C (p.Met5Thr)	PRICKLE1 (M5T)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2684671	GRCh37/hg19 12q12(chr12:42479450-42890970)x3	GXYLT1, PPHLN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2631087	NM_153026.3(PRICKLE1):c.2245A>T (p.Asn749Tyr)	PRICKLE1 (N749Y)	Single nucleotide variant (missense variant)	PRICKLE1-related disorder	GUncertain significance
Select item 2608515	NM_153026.3(PRICKLE1):c.2056G>A (p.Ala686Thr)	PRICKLE1 (A686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604950	NM_153026.3(PRICKLE1):c.1762C>G (p.Leu588Val)	PRICKLE1 (L588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548136	NM_153026.3(PRICKLE1):c.1619T>C (p.Leu540Ser)	PRICKLE1 (L540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427425	NC_000012.11:g.(?_42853611)_(42854487_?)dup	PRICKLE1	Duplication	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2427424	NC_000012.11:g.(?_42862785)_(42864169_?)del	PRICKLE1	Deletion	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2421758	NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)	PRICKLE1 (D740N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2417269	NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)	PRICKLE1 (T807I)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2417017	NM_153026.3(PRICKLE1):c.132+18C>T	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2415999	NM_153026.3(PRICKLE1):c.246+20G>T	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2322516	NM_153026.3(PRICKLE1):c.469G>T (p.Val157Phe)	PRICKLE1 (V157F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280199	NM_153026.3(PRICKLE1):c.1864T>C (p.Ser622Pro)	PRICKLE1 (S622P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265827	NM_153026.3(PRICKLE1):c.2263T>C (p.Tyr755His)	PRICKLE1 (Y755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211231	NM_153026.3(PRICKLE1):c.1160T>C (p.Phe387Ser)	LOC126861509, PRICKLE1 (F387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198537	NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2192382	NM_153026.3(PRICKLE1):c.156A>G (p.Leu52=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2187511	NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly)	PRICKLE1 (R620G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2177901	NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu)	PRICKLE1 (S600L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2171409	NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2170202	NM_153026.3(PRICKLE1):c.1879A>C (p.Arg627=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2166844	NM_153026.3(PRICKLE1):c.991C>A (p.Arg331=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2165340	NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)	PRICKLE1 (N685S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2164421	NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe)	PRICKLE1 (V449F)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2163705	NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2162934	NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr)	LOC126861509, PRICKLE1 (H273Y)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2162421	NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2160805	NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu)	LOC126861509, PRICKLE1 (D344E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2151773	NM_153026.3(PRICKLE1):c.588+6A>C	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2148613	NM_153026.3(PRICKLE1):c.202C>T (p.Arg68Trp)	PRICKLE1 (R68W)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2142056	NM_153026.3(PRICKLE1):c.1035G>A (p.Gln345=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2140507	NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu)	LOC126861509, PRICKLE1 (D410E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2133684	NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met)	PRICKLE1 (I133M)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2132422	NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile)	PRICKLE1 (T204I)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2122546	NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2117331	NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val)	PRICKLE1 (L52V)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2116330	NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr)	PRICKLE1 (I114T)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2116068	NM_153026.3(PRICKLE1):c.132+20del	PRICKLE1	Deletion (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2111568	NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala)	PRICKLE1 (E249A)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2110364	NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys)	PRICKLE1 (T253K)	Indel (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2108987	NM_153026.3(PRICKLE1):c.1640-12C>T	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2103938	NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=)	LOC130007700, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2101473	NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys)	LOC130007700, PRICKLE1 (E92K)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2095521	NM_153026.3(PRICKLE1):c.132+3dup	PRICKLE1	Duplication (intron variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2091916	NM_153026.3(PRICKLE1):c.1050C>T (p.Leu350=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2091369	NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala)	PRICKLE1 (V449A)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2090772	NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2086512	NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2085351	NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg)	LOC126861509, PRICKLE1 (C346R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2083730	NM_153026.3(PRICKLE1):c.1640-9C>G	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2081525	NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)	PRICKLE1 (R657Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2077777	NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys)	PRICKLE1 (E4K)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 2072799	NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys)	PRICKLE1 (Y247C)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2072483	NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly)	PRICKLE1 (D538G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2070816	NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)	PRICKLE1 (R677S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2067169	NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2054493	NM_153026.3(PRICKLE1):c.1884C>G (p.Pro628=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2050621	NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser)	PRICKLE1 (C240S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2042361	NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2039069	NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2037419	NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly)	PRICKLE1 (S426G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance

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