"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PCLO"[gene - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783003	NM_033026.6(PCLO):c.14871C>T (p.Ser4957=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 787702	NM_033026.6(PCLO):c.14766C>T (p.Ala4922=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 218822	NM_033026.6(PCLO):c.14702A>G (p.Lys4901Arg)	PCLO (K4901R)	Single nucleotide variant (missense variant)	PCLO-related condition +3 more	GLikely benign
Select item 2657644	NM_033026.6(PCLO):c.14697A>G (p.Gln4899=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537600	NM_033026.6(PCLO):c.14628T>C (p.His4876=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176230	NM_033026.6(PCLO):c.14397C>G (p.Ser4799=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1652943	NM_033026.6(PCLO):c.14322T>C (p.Tyr4774=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493269	NM_033026.6(PCLO):c.14209C>A (p.Leu4737Ile)	PCLO (L4737I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1379166	NM_033026.6(PCLO):c.13840G>A (p.Ala4614Thr)	PCLO (A4614T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733367	NM_033026.6(PCLO):c.13638G>A (p.Thr4546=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1440525	NM_033026.6(PCLO):c.13420A>G (p.Ser4474Gly)	PCLO (S4474G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385669	NM_033026.6(PCLO):c.13391C>T (p.Pro4464Leu)	PCLO (P4464L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1659176	NM_033026.6(PCLO):c.13123A>C (p.Arg4375=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603627	NM_033026.6(PCLO):c.12837G>A (p.Ala4279=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810112	NM_033026.6(PCLO):c.12779T>C (p.Leu4260Pro)	PCLO (L4260P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444720	NM_033026.6(PCLO):c.12709C>G (p.Leu4237Val)	PCLO (L4237V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657645	NM_033026.6(PCLO):c.12546C>T (p.Ala4182=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 810113	NM_033026.6(PCLO):c.12397C>T (p.Arg4133Cys)	PCLO (R4133C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788816	NM_033026.6(PCLO):c.12357C>T (p.Tyr4119=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013551	NM_033026.6(PCLO):c.12192C>T (p.Thr4064=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657646	NM_033026.6(PCLO):c.12080C>G (p.Ser4027Ter)	PCLO (S4027*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1557623	NM_033026.6(PCLO):c.11934T>C (p.Tyr3978=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116605	NM_033026.6(PCLO):c.11733A>G (p.Gln3911=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 720130	NM_033026.6(PCLO):c.11289C>T (p.Leu3763=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1166332	NM_033026.6(PCLO):c.11172G>A (p.Leu3724=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 810114	NM_033026.6(PCLO):c.11111C>T (p.Thr3704Met)	PCLO (T3704M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299076	NM_033026.6(PCLO):c.10668T>A (p.Pro3556=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 709806	NM_033026.6(PCLO):c.9591T>A (p.Asp3197Glu)	PCLO (D3197E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1165483	NM_033026.6(PCLO):c.9519T>C (p.Leu3173=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1587823	NM_033026.6(PCLO):c.8662G>A (p.Val2888Ile)	PCLO (V2888I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1521543	NM_033026.6(PCLO):c.7868T>G (p.Val2623Gly)	PCLO (V2623G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 810115	NM_033026.6(PCLO):c.7313T>C (p.Leu2438Pro)	PCLO (L2438P)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GLikely benign
Select item 1366566	NM_033026.6(PCLO):c.6452G>C (p.Arg2151Thr)	PCLO (R2151T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1176231	NM_033026.6(PCLO):c.6236G>A (p.Gly2079Glu)	PCLO (G2079E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634116	NM_033026.6(PCLO):c.6192C>G (p.Ala2064=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782005	NM_033026.6(PCLO):c.6174A>G (p.Leu2058=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +2 more	GBenign/Likely benign
Select item 787586	NM_033026.6(PCLO):c.5695C>A (p.Gln1899Lys)	PCLO (Q1899K)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GLikely benign
Select item 1599256	NM_033026.6(PCLO):c.5565T>C (p.Ser1855=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 444721	NM_033026.6(PCLO):c.5394A>G (p.Gln1798=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2657647	NM_033026.6(PCLO):c.4038A>C (p.Ser1346=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659666	NM_033026.6(PCLO):c.3743T>C (p.Leu1248Pro)	PCLO (L1248P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1119674	NM_033026.6(PCLO):c.3432A>G (p.Ser1144=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671977	NM_033026.6(PCLO):c.3429A>G (p.Ser1143=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1587653	NM_033026.6(PCLO):c.3368G>A (p.Arg1123His)	PCLO (R1123H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1669593	NM_033026.6(PCLO):c.3300+7_3300+8insTTTATATA	PCLO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1610852	NM_033026.6(PCLO):c.3300+7_3300+8insTTTATATATATATATATA	PCLO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1584511	NM_033026.6(PCLO):c.3300+7_3300+8insTTTATATATA	PCLO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1568459	NM_033026.6(PCLO):c.3300+7_3300+8insTTTATATATATATATA	PCLO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 810116	NM_033026.6(PCLO):c.3239C>T (p.Thr1080Ile)	PCLO (T1080I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720131	NM_033026.6(PCLO):c.2473G>A (p.Ala825Thr)	PCLO (A825T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1461520	NM_033026.6(PCLO):c.2103A>C (p.Lys701Asn)	PCLO (K701N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252760	NM_033026.6(PCLO):c.2066C>T (p.Ala689Val)	PCLO (A689V)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GBenign/Likely benign
Select item 774655	NM_033026.6(PCLO):c.1369G>A (p.Gly457Arg)	PCLO (G457R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign
Select item 732850	NM_033026.6(PCLO):c.1368C>T (p.Pro456=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473641	NM_033026.6(PCLO):c.1341A>T (p.Gly447=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013552	NM_033026.6(PCLO):c.1297G>A (p.Ala433Thr)	PCLO (A433T)	Single nucleotide variant (missense variant)	PCLO-related condition +3 more	GConflicting classifications of pathogenicity
Select item 713790	NM_033026.6(PCLO):c.943C>G (p.Pro315Ala)	PCLO (P315A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1394621	NM_033026.6(PCLO):c.929C>G (p.Thr310Ser)	PCLO (T310S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2657648	NM_033026.6(PCLO):c.687G>A (p.Pro229=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786410	NM_033026.6(PCLO):c.686C>T (p.Pro229Leu)	PCLO (P229L)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GBenign/Likely benign
Select item 810117	NM_033026.6(PCLO):c.311G>A (p.Arg104His)	PCLO (R104H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 810118	NM_033026.6(PCLO):c.248+8C>A	PCLO	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity

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Items: 62