POC5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 2739308	NM_001099271.2(POC5):c.1727A>G (p.Ter576=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916966	NM_001099271.2(POC5):c.1717G>A (p.Val573Met)	POC5 (V573M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106489	NM_001099271.2(POC5):c.1695C>A (p.Leu565=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927938	NM_001099271.2(POC5):c.1692T>G (p.Ser564=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496654	NM_001099271.2(POC5):c.1664T>C (p.Leu555Pro)	POC5 (L555P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045839	NM_001099271.2(POC5):c.1646C>T (p.Thr549Ile)	POC5 (T549I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2119647	NM_001099271.2(POC5):c.1645A>G (p.Thr549Ala)	POC5 (T524A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102335	NM_001099271.2(POC5):c.1641T>C (p.Ser547=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986854	NM_001099271.2(POC5):c.1633C>A (p.Pro545Thr)	POC5 (P520T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176446	NM_001099271.2(POC5):c.1622G>A (p.Arg541Gln)	POC5 (R516Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3216145	NM_001099271.2(POC5):c.1621C>T (p.Arg541Trp)	POC5 (R516W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2415533	NM_001099271.2(POC5):c.1616A>G (p.Tyr539Cys)	POC5 (Y514C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365847	NM_001099271.2(POC5):c.1607C>A (p.Ala536Glu)	POC5 (A511E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490343	NM_001099271.2(POC5):c.1606G>A (p.Ala536Thr)	POC5 (A511T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911985	NM_001099271.2(POC5):c.1599A>G (p.Gln533=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001383	NM_001099271.2(POC5):c.1578C>T (p.Val526=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699946	NM_001099271.2(POC5):c.1570C>T (p.His524Tyr)	POC5 (H499Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381761	NM_001099271.2(POC5):c.1562A>G (p.Glu521Gly)	POC5 (E496G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917102	NM_001099271.2(POC5):c.1554TGT[1] (p.Val520del)	POC5 (V495del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2023007	NM_001099271.2(POC5):c.1554T>G (p.Val518=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120620	NM_001099271.2(POC5):c.1547G>A (p.Ser516Asn)	POC5 (S516N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011496	NM_001099271.2(POC5):c.1538C>T (p.Pro513Leu)	POC5 (P488L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958889	NM_001099271.2(POC5):c.1537C>T (p.Pro513Ser)	POC5 (P488S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414467	NM_001099271.2(POC5):c.1524A>G (p.Ile508Met)	POC5 (I483M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403089	NM_001099271.2(POC5):c.1523T>G (p.Ile508Arg)	POC5 (I508R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189898	NM_001099271.2(POC5):c.1500T>C (p.Asn500=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181029	NM_001099271.2(POC5):c.1491T>C (p.Ala497=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819486	NM_001099271.2(POC5):c.1482T>C (p.Cys494=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564003	NM_001099271.2(POC5):c.1467G>A (p.Arg489=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059682	NM_001099271.2(POC5):c.1466G>A (p.Arg489Gln)	POC5 (R464Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975723	NM_001099271.2(POC5):c.1461A>G (p.Thr487=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858583	NM_001099271.2(POC5):c.1457_1459dup (p.Ile486_Thr487insIle)	POC5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2842482	NM_001099271.2(POC5):c.1436A>C (p.Gln479Pro)	POC5 (Q454P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933620	NM_001099271.2(POC5):c.1410T>C (p.Tyr470=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770816	NM_001099271.2(POC5):c.1408-8C>G	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639525	NM_001099271.2(POC5):c.1408-9dup	POC5	Duplication (intron variant)	not provided	GLikely benign
Select item 2986465	NM_001099271.2(POC5):c.1408-9del	POC5	Deletion (intron variant)	not provided	GBenign
Select item 1551422	NM_001099271.2(POC5):c.1408-23_1408-19del	POC5	Deletion (intron variant)	not provided	GLikely benign
Select item 1604439	NM_001099271.2(POC5):c.1407+19G>C	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831320	NM_001099271.2(POC5):c.1388C>G (p.Thr463Ser)	POC5 (T463S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139832	NM_001099271.2(POC5):c.1381G>A (p.Ala461Thr)	POC5 (A461T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165412	NM_001099271.2(POC5):c.1371T>C (p.Gly457=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638595	NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro)	POC5 (A455P +1 more)	Single nucleotide variant (missense variant)	Scoliosis +1 more	GUncertain significance
Select item 1934104	NM_001099271.2(POC5):c.1354C>T (p.Pro452Ser)	POC5 (P427S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500154	NM_001099271.2(POC5):c.1351G>A (p.Val451Ile)	POC5 (V451I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990946	NM_001099271.2(POC5):c.1350C>T (p.His450=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653918	NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr)	POC5 (A421T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2051497	NM_001099271.2(POC5):c.1335C>T (p.Ser445=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015969	NM_001099271.2(POC5):c.1333T>G (p.Ser445Ala)	POC5 (S420A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186689	NM_001099271.2(POC5):c.1331C>T (p.Ala444Val)	POC5 (A419V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003881	NM_001099271.2(POC5):c.1331C>A (p.Ala444Asp)	POC5 (A419D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978815	NM_001099271.2(POC5):c.1323C>G (p.Thr441=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001950	NM_001099271.2(POC5):c.1320T>C (p.Ser440=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416418	NM_001099271.2(POC5):c.1310C>T (p.Ser437Leu)	POC5 (S412L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191650	NM_001099271.2(POC5):c.1309T>C (p.Ser437Pro)	POC5 (S437P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750531	NM_001099271.2(POC5):c.1307C>A (p.Ala436Asp)	POC5 (A411D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163095	NM_001099271.2(POC5):c.1299C>G (p.Pro433=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463945	NM_001099271.2(POC5):c.1294G>A (p.Val432Ile)	POC5 (V407I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1593296	NM_001099271.2(POC5):c.1293C>T (p.Ala431=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896130	NM_001099271.2(POC5):c.1287G>A (p.Ala429=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167438	NM_001099271.2(POC5):c.1286C>T (p.Ala429Val)	POC5 (A404V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2173036	NM_001099271.2(POC5):c.1285G>A (p.Ala429Thr)	POC5 (A404T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1898270	NM_001099271.2(POC5):c.1272C>A (p.Val424=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672508	NM_001099271.2(POC5):c.1272C>T (p.Val424=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1430728	NM_001099271.2(POC5):c.1270G>A (p.Val424Ile)	POC5 (V399I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2812583	NM_001099271.2(POC5):c.1269C>A (p.Ala423=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066889	NM_001099271.2(POC5):c.1265_1266delinsTT (p.Ala422Val)	POC5 (A422V +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1563840	NM_001099271.2(POC5):c.1266C>T (p.Ala422=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655545	NM_001099271.2(POC5):c.1263A>G (p.Pro421=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020079	NM_001099271.2(POC5):c.1260A>G (p.Pro420=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176551	NM_001099271.2(POC5):c.1256C>A (p.Ser419Tyr)	POC5 (S394Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935608	NM_001099271.2(POC5):c.1254A>G (p.Pro418=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720775	NM_001099271.2(POC5):c.1252C>T (p.Pro418Ser)	POC5 (P393S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577370	NM_001099271.2(POC5):c.1252C>G (p.Pro418Ala)	POC5 (P393A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1516649	NM_001099271.2(POC5):c.1237A>G (p.Thr413Ala)	POC5 (T388A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1610421	NM_001099271.2(POC5):c.1233A>G (p.Pro411=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422583	NM_001099271.2(POC5):c.1231C>T (p.Pro411Ser)	POC5 (P411S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2992992	NM_001099271.2(POC5):c.1225C>A (p.Pro409Thr)	POC5 (P409T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960805	NM_001099271.2(POC5):c.1221G>T (p.Pro407=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1561961	NM_001099271.2(POC5):c.1221G>A (p.Pro407=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474680	NM_001099271.2(POC5):c.1220C>T (p.Pro407Leu)	POC5 (P382L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2869377	NM_001099271.2(POC5):c.1214C>G (p.Ala405Gly)	POC5 (A380G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2278624	NM_001099271.2(POC5):c.1198C>A (p.His400Asn)	POC5 (H375N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2177602	NM_001099271.2(POC5):c.1198C>T (p.His400Tyr)	POC5 (H375Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923550	NM_001099271.2(POC5):c.1189C>T (p.His397Tyr)	POC5 (H372Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518522	NM_001099271.2(POC5):c.1163A>G (p.Tyr388Cys)	POC5 (Y363C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2101807	NM_001099271.2(POC5):c.1154dup (p.Glu386fs)	POC5 (E361fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2045718	NM_001099271.2(POC5):c.1155G>A (p.Lys385=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735877	NM_001099271.2(POC5):c.1144A>C (p.Asn382His)	POC5 (N357H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932005	NM_001099271.2(POC5):c.1144A>T (p.Asn382Tyr)	POC5 (N357Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419524	NM_001099271.2(POC5):c.1139C>T (p.Ser380Phe)	POC5 (S355F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015797	NM_001099271.2(POC5):c.1135G>A (p.Asp379Asn)	POC5 (D354N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953540	NM_001099271.2(POC5):c.1133T>C (p.Ile378Thr)	POC5 (I353T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899353	NM_001099271.2(POC5):c.1130-12del	POC5	Deletion (intron variant)	not provided	GLikely benign
Select item 1666434	NM_001099271.2(POC5):c.1130-13T>A	POC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2023850	NM_001099271.2(POC5):c.1130-16A>G	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610401	NM_001099271.2(POC5):c.1129+19T>A	POC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2105541	NM_001099271.2(POC5):c.1129+12A>G	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978889	NM_001099271.2(POC5):c.1118G>C (p.Arg373Thr)	POC5 (R348T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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