"PreventionGenetics, part of Exact Sciences"[submitter] AND "PCLO"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1590969	NM_033026.6(PCLO):c.15289-5dup	PCLO	Duplication (intron variant)	PCLO-related condition +1 more	GBenign/Likely benign
Select item 2632993	NM_033026.6(PCLO):c.15112T>C (p.Tyr5038His)	PCLO (Y5038H)	Single nucleotide variant (missense variant)	PCLO-related condition	GUncertain significance
Select item 218822	NM_033026.6(PCLO):c.14702A>G (p.Lys4901Arg)	PCLO (K4901R)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1620094	NM_033026.6(PCLO):c.14328T>C (p.Ser4776=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1590128	NM_033026.6(PCLO):c.14217G>C (p.Gly4739=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1616079	NM_033026.6(PCLO):c.14052C>T (p.Thr4684=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 768167	NM_033026.6(PCLO):c.14017G>A (p.Val4673Met)	PCLO (V4673M)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GConflicting classifications of pathogenicity
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 1603732	NM_033026.6(PCLO):c.13528+8A>G	PCLO	Single nucleotide variant (intron variant)	PCLO-related condition +1 more	GBenign/Likely benign
Select item 3061109	NM_033026.6(PCLO):c.13000T>G (p.Ser4334Ala)	PCLO (S4334A)	Single nucleotide variant (missense variant)	PCLO-related condition	GUncertain significance
Select item 1586053	NM_033026.6(PCLO):c.12792G>A (p.Leu4264=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3029573	NM_033026.6(PCLO):c.12260G>C (p.Arg4087Pro)	PCLO (R4087P)	Single nucleotide variant (missense variant)	PCLO-related condition	GUncertain significance
Select item 1164759	NM_033026.6(PCLO):c.12180G>A (p.Ala4060=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2873564	NM_033026.6(PCLO):c.11826T>G (p.Pro3942=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1422654	NM_033026.6(PCLO):c.10984G>A (p.Ala3662Thr)	PCLO (A3662T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1645353	NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu)	PCLO (D3589E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1168040	NM_033026.6(PCLO):c.10347C>T (p.Asp3449=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GBenign
Select item 1591685	NM_033026.6(PCLO):c.10149G>A (p.Gln3383=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1593404	NM_033026.6(PCLO):c.9856T>C (p.Leu3286=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1591084	NM_033026.6(PCLO):c.9468A>G (p.Val3156=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1029005	NM_033026.6(PCLO):c.9373G>A (p.Asp3125Asn)	PCLO (D3125N)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1164379	NM_033026.6(PCLO):c.8501C>T (p.Pro2834Leu)	PCLO (P2834L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1627469	NM_033026.6(PCLO):c.8298A>G (p.Lys2766=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1029004	NM_033026.6(PCLO):c.8069G>A (p.Gly2690Asp)	PCLO (G2690D)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1424054	NM_033026.6(PCLO):c.7853C>A (p.Pro2618His)	PCLO (P2618H)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GUncertain significance
Select item 712659	NM_033026.6(PCLO):c.7740T>C (p.Tyr2580=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GBenign/Likely benign
Select item 1445134	NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu)	PCLO (Q2524L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1169530	NM_033026.6(PCLO):c.7322A>G (p.Lys2441Arg)	PCLO (K2441R)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GBenign
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 3036222	NM_033026.6(PCLO):c.7233_7274del (p.Pro2413_Pro2426del)	PCLO	Deletion (inframe deletion)	PCLO-related condition	GLikely benign
Select item 3037219	NM_033026.6(PCLO):c.7251T>A (p.Pro2417=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition	GLikely benign
Select item 1591776	NM_033026.6(PCLO):c.7170T>A (p.Pro2390=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GBenign
Select item 1226029	NM_033026.6(PCLO):c.6660T>G (p.Phe2220Leu)	PCLO (F2220L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3052578	NM_033026.6(PCLO):c.6620C>A (p.Thr2207Asn)	PCLO (T2207N)	Single nucleotide variant (missense variant)	PCLO-related condition	GUncertain significance
Select item 1032313	NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)	PCLO (P2178S)	Single nucleotide variant (missense variant)	PCLO-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1667554	NM_033026.6(PCLO):c.6487A>T (p.Ile2163Phe)	PCLO (I2163F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 1617005	NM_033026.6(PCLO):c.5985T>G (p.Leu1995=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 2181805	NM_033026.6(PCLO):c.5892G>A (p.Thr1964=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1564987	NM_033026.6(PCLO):c.5891C>T (p.Thr1964Met)	PCLO (T1964M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2166143	NM_033026.6(PCLO):c.5701A>G (p.Ile1901Val)	PCLO (I1901V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 768169	NM_033026.6(PCLO):c.5696A>C (p.Gln1899Pro)	PCLO (Q1899P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1573206	NM_033026.6(PCLO):c.5623G>A (p.Glu1875Lys)	PCLO (E1875K)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GLikely benign
Select item 768170	NM_033026.6(PCLO):c.5559A>G (p.Arg1853=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2041423	NM_033026.6(PCLO):c.5364G>A (p.Glu1788=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GBenign/Likely benign
Select item 1111492	NM_033026.6(PCLO):c.4900G>A (p.Asp1634Asn)	PCLO (D1634N)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GLikely benign
Select item 3051166	NM_033026.6(PCLO):c.4782G>A (p.Lys1594=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition	GLikely benign
Select item 780694	NM_033026.6(PCLO):c.4669C>A (p.Arg1557=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1553616	NM_033026.6(PCLO):c.4659G>A (p.Glu1553=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1373282	NM_033026.6(PCLO):c.4067G>T (p.Ser1356Ile)	PCLO (S1356I)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GUncertain significance
Select item 2803148	NM_033026.6(PCLO):c.3879C>G (p.Thr1293=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 724142	NM_033026.6(PCLO):c.3862G>T (p.Gly1288Trp)	PCLO (G1288W)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1515682	NM_033026.6(PCLO):c.3762A>G (p.Thr1254=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	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 1490205	NM_033026.6(PCLO):c.3371A>G (p.Lys1124Arg)	PCLO (K1124R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1587653	NM_033026.6(PCLO):c.3368G>A (p.Arg1123His)	PCLO (R1123H)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3045750	NM_033026.6(PCLO):c.3300+8_3300+18del	PCLO	Deletion (intron variant)	PCLO-related condition	GLikely benign
Select item 1573884	NM_033026.6(PCLO):c.3300+7_3300+8insTTTA	PCLO	Insertion (intron variant)	PCLO-related condition +1 more	GLikely benign
Select item 2975625	NM_033026.6(PCLO):c.3207T>G (p.Gly1069=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 2631064	NM_033026.6(PCLO):c.3205G>C (p.Gly1069Arg)	PCLO (G1069R)	Single nucleotide variant (missense variant)	PCLO-related condition	GUncertain significance
Select item 1643402	NM_033026.6(PCLO):c.3183C>T (p.Leu1061=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 1518954	NM_033026.6(PCLO):c.2425A>G (p.Thr809Ala)	PCLO (T809A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1634982	NM_033026.6(PCLO):c.2159C>T (p.Ala720Val)	PCLO (A720V)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GLikely benign
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 3030502	NM_033026.6(PCLO):c.1979A>C (p.Lys660Thr)	PCLO (K660T)	Single nucleotide variant (missense variant)	PCLO-related condition	GUncertain significance
Select item 3029150	NM_033026.6(PCLO):c.1851C>G (p.Val617=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition	GLikely benign
Select item 2633269	NM_033026.6(PCLO):c.1839_1840delinsAA (p.Cys613_Gln614delinsTer)	PCLO	Indel (nonsense)	PCLO-related condition +1 more	GPathogenic/Likely pathogenic
Select item 775250	NM_033026.6(PCLO):c.1426CCAGCAAAGCCCCCACCTCAACAGCCTGGC[1] (p.476PAKPPPQQPG[1])	PCLO	Microsatellite (inframe_deletion)	PCLO-related condition +1 more	GBenign
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 769331	NM_033026.6(PCLO):c.1094_1123dup (p.Pro365_Gln374dup)	PCLO	Duplication (inframe_insertion)	not provided +1 more	GBenign
Select item 1558706	NM_033026.6(PCLO):c.1059C>T (p.Val353=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GBenign
Select item 1669804	NM_033026.6(PCLO):c.1044A>G (p.Thr348=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related condition +1 more	GLikely benign
Select item 768172	NM_033026.6(PCLO):c.962A>G (p.His321Arg)	PCLO (H321R)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GBenign/Likely benign
Select item 1410421	NM_033026.6(PCLO):c.824_826del (p.Gln275del)	PCLO (Q275del)	Deletion (inframe_deletion)	PCLO-related condition +2 more	GConflicting classifications of pathogenicity
Select item 768173	NM_033026.6(PCLO):c.775C>G (p.Gln259Glu)	PCLO (Q259E)	Single nucleotide variant (missense variant)	PCLO-related condition +2 more	GBenign/Likely 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 1573632	NM_033026.6(PCLO):c.586G>T (p.Val196Phe)	PCLO (V196F)	Single nucleotide variant (missense variant)	PCLO-related condition +1 more	GBenign/Likely benign
Select item 1584691	NM_033026.6(PCLO):c.309G>C (p.Gly103=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 720810	NM_033026.6(PCLO):c.212T>C (p.Val71Ala)	PCLO (V71A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 81