9178[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 3056602	NM_002692.4(POLE2):c.*5C>T	POLE2	Single nucleotide variant (3 prime UTR variant)	POLE2-related disorder	GBenign
Select item 1948531	NM_002692.4(POLE2):c.1566-3del	POLE2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1948532	NM_002692.4(POLE2):c.1566-4T>A	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948533	NM_002692.4(POLE2):c.1566-5T>A	POLE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1529955	NM_002692.4(POLE2):c.1566-11dup	POLE2	Duplication (intron variant)	not provided	GBenign
Select item 1942157	NM_002692.4(POLE2):c.1566-20A>T	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809408	NM_002692.4(POLE2):c.1565+20C>T	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641922	NM_002692.4(POLE2):c.1565+20C>G	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879574	NM_002692.4(POLE2):c.1565+14C>T	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544595	NM_002692.4(POLE2):c.1563T>C (p.Asp521=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649414	NM_002692.4(POLE2):c.1556T>C (p.Val519Ala)	POLE2 (V442A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2714147	NM_002692.4(POLE2):c.1551G>C (p.Lys517Asn)	POLE2 (K516N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186739	NM_002692.4(POLE2):c.1542T>A (p.Pro514=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186896	NM_002692.4(POLE2):c.1540C>T (p.Pro514Ser)	POLE2 (P514S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642534	NM_002692.4(POLE2):c.1533T>G (p.Val511=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1517349	NM_002692.4(POLE2):c.1529_1530del (p.Lys510fs)	POLE2 (K484fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1463279	NM_002692.4(POLE2):c.1517del (p.Gly506fs)	POLE2 (G429fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1054580	NM_002692.4(POLE2):c.1502C>G (p.Ser501Cys)	POLE2 (S424C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2037703	NM_002692.4(POLE2):c.1500C>T (p.Gly500=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349929	NM_002692.4(POLE2):c.1499G>A (p.Gly500Asp)	POLE2 (G474D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045437	NM_002692.4(POLE2):c.1498-3A>G	POLE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1674340	NM_002692.4(POLE2):c.1498-6C>T	POLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1537222	NM_002692.4(POLE2):c.1498-8C>T	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904705	NM_002692.4(POLE2):c.1498-9C>T	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600251	NM_002692.4(POLE2):c.1497+17T>C	POLE2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1649330	NM_002692.4(POLE2):c.1497+10T>C	POLE2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1447260	NM_002692.4(POLE2):c.1489A>G (p.Ile497Val)	POLE2 (I471V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997297	NM_002692.4(POLE2):c.1477G>A (p.Glu493Lys)	POLE2 (E492K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012859	NM_002692.4(POLE2):c.1476C>T (p.Thr492=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976616	NM_002692.4(POLE2):c.1471A>C (p.Asn491His)	POLE2 (N490H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912923	NM_002692.4(POLE2):c.1471A>G (p.Asn491Asp)	POLE2 (N490D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041430	NM_002692.4(POLE2):c.1466C>T (p.Thr489Met)	POLE2 (T463M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086450	NM_002692.4(POLE2):c.1455T>A (p.Asp485Glu)	POLE2 (D484E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970555	NM_002692.4(POLE2):c.1441G>A (p.Ala481Thr)	POLE2 (A480T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523378	NM_002692.4(POLE2):c.1426G>A (p.Asp476Asn)	POLE2 (D399N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1947111	NM_002692.4(POLE2):c.1420G>A (p.Val474Met)	POLE2 (V397M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782338	NM_002692.4(POLE2):c.1414T>C (p.Tyr472His)	POLE2 (Y395H +3 more)	Single nucleotide variant (missense variant)	POLE2-related disorder +1 more	GBenign/Likely benign
Select item 2769593	NM_002692.4(POLE2):c.1411G>A (p.Val471Met)	POLE2 (V445M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518133	NM_002692.4(POLE2):c.1409G>C (p.Arg470Thr)	POLE2 (R444T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486945	NM_002692.4(POLE2):c.1406dup (p.Leu469fs)	POLE2 (L468fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1371299	NM_002692.4(POLE2):c.1407G>C (p.Leu469Phe)	POLE2 (L469F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849188	NM_002692.4(POLE2):c.1400A>C (p.Tyr467Ser)	POLE2 (Y441S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420037	NM_002692.4(POLE2):c.1400A>G (p.Tyr467Cys)	POLE2 (Y467C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140768	NM_002692.4(POLE2):c.1386T>C (p.Tyr462=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906479	NM_002692.4(POLE2):c.1383G>A (p.Val461=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592162	NM_002692.4(POLE2):c.1366C>G (p.Leu456Val)	POLE2 (L379V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2421090	NM_002692.4(POLE2):c.1362A>G (p.Leu454=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533239	NM_002692.4(POLE2):c.1359C>T (p.Pro453=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988144	NM_002692.4(POLE2):c.1356T>C (p.Thr452=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714888	NM_002692.4(POLE2):c.1352T>C (p.Leu451Pro)	POLE2 (L374P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876998	NM_002692.4(POLE2):c.1348C>T (p.His450Tyr)	POLE2 (H450Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993704	NM_002692.4(POLE2):c.1340C>G (p.Ser447Cys)	POLE2 (S370C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964834	NM_002692.4(POLE2):c.1324G>C (p.Val442Leu)	POLE2 (V441L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726269	NM_002692.4(POLE2):c.1321-6T>C	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124912	NM_002692.4(POLE2):c.1321-12G>A	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418574	NM_002692.4(POLE2):c.1320+6_1320+7dup	POLE2	Duplication (intron variant)	not provided	GLikely benign
Select item 3044731	NM_002692.4(POLE2):c.1320C>T (p.His440=)	POLE2	Single nucleotide variant (synonymous variant)	POLE2-related disorder	GLikely benign
Select item 1970730	NM_002692.4(POLE2):c.1320C>A (p.His440Gln)	POLE2 (H363Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190623	NM_002692.4(POLE2):c.1286G>A (p.Arg429His)	POLE2 (R403H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920491	NM_002692.4(POLE2):c.1282G>A (p.Val428Ile)	POLE2 (V402I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377672	NM_002692.4(POLE2):c.1279T>C (p.Cys427Arg)	POLE2 (C350R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108175	NM_002692.4(POLE2):c.1267del (p.Met423fs)	POLE2 (M346fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1533716	NM_002692.4(POLE2):c.1266A>G (p.Lys422=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409799	NM_002692.4(POLE2):c.1251A>C (p.Glu417Asp)	POLE2 (E340D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975250	NM_002692.4(POLE2):c.1249del (p.Glu417fs)	POLE2 (E391fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2427865	NM_002692.4(POLE2):c.1238C>T (p.Thr413Ile)	POLE2 (T336I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727820	NM_002692.4(POLE2):c.1222_1226dup (p.Gln410fs)	POLE2 (Q333fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1107453	NM_002692.4(POLE2):c.1224T>C (p.Cys408=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077880	NM_002692.4(POLE2):c.1223G>A (p.Cys408Tyr)	POLE2 (C407Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976893	NM_002692.4(POLE2):c.1212-8C>A	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999789	NM_002692.4(POLE2):c.1211G>T (p.Arg404Ile)	POLE2 (R404I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977238	NM_002692.4(POLE2):c.1209C>T (p.Cys403=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088126	NM_002692.4(POLE2):c.1208G>A (p.Cys403Tyr)	POLE2 (C377Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929258	NM_002692.4(POLE2):c.1187_1188del (p.Ser396fs)	POLE2 (S370fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3007466	NM_002692.4(POLE2):c.1169G>A (p.Arg390Lys)	POLE2 (R389K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035114	NM_002692.4(POLE2):c.1166del (p.Phe389fs)	POLE2 (F312fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2110602	NM_002692.4(POLE2):c.1165T>A (p.Phe389Ile)	POLE2 (F388I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801645	NM_002692.4(POLE2):c.1150A>G (p.Ser384Gly)	POLE2 (S358G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507662	NM_002692.4(POLE2):c.1147G>A (p.Glu383Lys)	POLE2 (E357K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020610	NM_002692.4(POLE2):c.1141C>G (p.Leu381Val)	POLE2 (L355V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582986	NM_002692.4(POLE2):c.1134-5T>C	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698772	NM_002692.4(POLE2):c.1134-16T>A	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977773	NM_002692.4(POLE2):c.1134-20C>T	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906214	NM_002692.4(POLE2):c.1133+20T>C	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938897	NM_002692.4(POLE2):c.1133+15G>C	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164994	NM_002692.4(POLE2):c.1133+15G>A	POLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2722115	NM_002692.4(POLE2):c.1133+6T>A	POLE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1382631	NM_002692.4(POLE2):c.1133+5G>A	POLE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3216323	NM_002692.4(POLE2):c.1127T>C (p.Leu376Ser)	POLE2 (L350S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1992191	NM_002692.4(POLE2):c.1107T>C (p.Asp369=)	POLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473737	NM_002692.4(POLE2):c.1099C>T (p.Pro367Ser)	POLE2 (P366S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247299	NM_002692.4(POLE2):c.1097G>C (p.Gly366Ala)	POLE2 (G289A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1498677	NM_002692.4(POLE2):c.1093C>T (p.Pro365Ser)	POLE2 (P365S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018620	NM_002692.4(POLE2):c.1079G>A (p.Arg360His)	POLE2 (R283H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048531	NM_002692.4(POLE2):c.1074-1G>T	POLE2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1636288	NM_002692.4(POLE2):c.1073+17C>G	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966270	NM_002692.4(POLE2):c.1073+12T>C	POLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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