ClinVar for MedGen (Select 394003) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	not specified +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
Select item 2036232	NM_153026.3(PRICKLE1):c.458del (p.Pro153fs)	PRICKLE1 (P153fs)	Deletion (frameshift variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2029997	NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2013578	NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys)	PRICKLE1 (N433K)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2010657	NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 2009358	NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn)	PRICKLE1 (Y74N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2007309	NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly)	PRICKLE1 (S19G)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2005712	NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr)	PRICKLE1 (M435T)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 2000016	NM_153026.3(PRICKLE1):c.1424A>G (p.Gln475Arg)	PRICKLE1 (Q475R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1998927	NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp)	PRICKLE1 (E434D)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1998269	NM_153026.3(PRICKLE1):c.775+3A>G	PRICKLE1	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1994110	NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala)	LOC126861509, PRICKLE1 (S280A)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1989521	NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)	PRICKLE1 (P706S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1988840	NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser)	PRICKLE1 (N579S)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1976282	NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1968009	NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B	GLikely benign
Select item 1965796	NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)	PRICKLE1 (D684N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1957238	NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu)	PRICKLE1 (G547E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1955482	NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val)	PRICKLE1 (I258V)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1946083	NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln)	PRICKLE1 (H589Q)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1932700	NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His)	PRICKLE1 (N554H)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 1931473	NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)	PRICKLE1 (Y704F)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1913135	NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu)	PRICKLE1 (G255E)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +1 more	GUncertain significance
Select item 1786647	NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)	PRICKLE1 (N715K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1770320	NM_153026.3(PRICKLE1):c.1029A>C (p.Ala343=)	LOC126861509, PRICKLE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1715942	NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn)	LOC126861509, PRICKLE1 (T370N)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance
Select item 1713481	NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys)	PRICKLE1 (S634C)	Indel (missense variant)	Epilepsy, progressive myoclonic, 1B	GUncertain significance

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