ClinVar for Gene (Select 27445) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245930	NC_000007.13:g.(?_82508397)_(82586195_?)del	PCLO	Deletion	not provided	GLikely pathogenic
Select item 3235856	NM_033026.6(PCLO):c.13663G>A (p.Val4555Ile)	PCLO (V4555I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233671	NM_033026.6(PCLO):c.10971G>C (p.Leu3657=)	PCLO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3210297	NM_033026.6(PCLO):c.9425C>T (p.Ser3142Leu)	PCLO (S3142L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210296	NM_033026.6(PCLO):c.9404A>G (p.His3135Arg)	PCLO (H3135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210295	NM_033026.6(PCLO):c.9238A>G (p.Ser3080Gly)	PCLO (S3080G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210294	NM_033026.6(PCLO):c.8312T>C (p.Val2771Ala)	PCLO (V2771A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210292	NM_033026.6(PCLO):c.7931C>G (p.Ala2644Gly)	PCLO (A2644G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210291	NM_033026.6(PCLO):c.7744G>A (p.Val2582Ile)	PCLO (V2582I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210289	NM_033026.6(PCLO):c.7669C>A (p.Pro2557Thr)	PCLO (P2557T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210287	NM_033026.6(PCLO):c.6457A>G (p.Ile2153Val)	PCLO (I2153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210286	NM_033026.6(PCLO):c.6028C>A (p.Leu2010Ile)	PCLO (L2010I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210284	NM_033026.6(PCLO):c.5582C>T (p.Pro1861Leu)	PCLO (P1861L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210283	NM_033026.6(PCLO):c.5309T>C (p.Ile1770Thr)	PCLO (I1770T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210281	NM_033026.6(PCLO):c.5062A>C (p.Lys1688Gln)	PCLO (K1688Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210280	NM_033026.6(PCLO):c.5021G>A (p.Ser1674Asn)	PCLO (S1674N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210279	NM_033026.6(PCLO):c.4573C>G (p.Pro1525Ala)	PCLO (P1525A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210277	NM_033026.6(PCLO):c.4496T>G (p.Phe1499Cys)	PCLO (F1499C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210274	NM_033026.6(PCLO):c.3735C>A (p.Asp1245Glu)	PCLO (D1245E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210273	NM_033026.6(PCLO):c.3230A>G (p.Asn1077Ser)	PCLO (N1077S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3210271	NM_033026.6(PCLO):c.2629A>G (p.Thr877Ala)	PCLO (T877A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210269	NM_033026.6(PCLO):c.218C>T (p.Pro73Leu)	PCLO (P73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210268	NM_033026.6(PCLO):c.2128C>T (p.Pro710Ser)	PCLO (P710S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210267	NM_033026.6(PCLO):c.1799A>G (p.His600Arg)	PCLO (H600R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210266	NM_033026.6(PCLO):c.1619C>T (p.Ser540Leu)	PCLO (S540L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210265	NM_033026.6(PCLO):c.1525C>T (p.Pro509Ser)	PCLO (P509S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210264	NM_033026.6(PCLO):c.15227G>A (p.Arg5076Gln)	PCLO (R5076Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210262	NM_033026.6(PCLO):c.148G>A (p.Glu50Lys)	PCLO (E50K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210260	NM_033026.6(PCLO):c.14507A>T (p.Lys4836Met)	PCLO (K4836M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210259	NM_033026.6(PCLO):c.1409C>T (p.Pro470Leu)	PCLO (P470L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210258	NM_033026.6(PCLO):c.1388A>T (p.Gln463Leu)	PCLO (Q463L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210257	NM_033026.6(PCLO):c.13654G>A (p.Gly4552Arg)	PCLO (G4552R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210256	NM_033026.6(PCLO):c.13264A>G (p.Met4422Val)	PCLO (M4422V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210254	NM_033026.6(PCLO):c.12307A>G (p.Arg4103Gly)	PCLO (R4103G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210253	NM_033026.6(PCLO):c.12131G>A (p.Arg4044Gln)	PCLO (R4044Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210252	NM_033026.6(PCLO):c.12010A>G (p.Ser4004Gly)	PCLO (S4004G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061109	NM_033026.6(PCLO):c.13000T>G (p.Ser4334Ala)	PCLO (S4334A)	Single nucleotide variant (missense variant)	PCLO-related disorder	GUncertain significance
Select item 3052578	NM_033026.6(PCLO):c.6620C>A (p.Thr2207Asn)	PCLO (T2207N)	Single nucleotide variant (missense variant)	PCLO-related disorder	GUncertain significance
Select item 3051166	NM_033026.6(PCLO):c.4782G>A (p.Lys1594=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related disorder	GLikely benign
Select item 3045750	NM_033026.6(PCLO):c.3300+8_3300+18del	PCLO	Deletion (intron variant)	PCLO-related disorder	GLikely benign
Select item 3037219	NM_033026.6(PCLO):c.7251T>A (p.Pro2417=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related disorder	GLikely benign
Select item 3036222	NM_033026.6(PCLO):c.7233_7274del (p.Pro2413_Pro2426del)	PCLO	Deletion (inframe deletion)	PCLO-related disorder	GLikely benign
Select item 3030502	NM_033026.6(PCLO):c.1979A>C (p.Lys660Thr)	PCLO (K660T)	Single nucleotide variant (missense variant)	PCLO-related disorder	GUncertain significance
Select item 3029573	NM_033026.6(PCLO):c.12260G>C (p.Arg4087Pro)	PCLO (R4087P)	Single nucleotide variant (missense variant)	PCLO-related disorder	GUncertain significance
Select item 3029150	NM_033026.6(PCLO):c.1851C>G (p.Val617=)	PCLO	Single nucleotide variant (synonymous variant)	PCLO-related disorder	GLikely benign
Select item 3022868	NM_033026.6(PCLO):c.1308T>A (p.Pro436=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021366	NM_033026.6(PCLO):c.3408T>G (p.Pro1136=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021335	NM_033026.6(PCLO):c.5859G>A (p.Glu1953=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021249	NM_033026.6(PCLO):c.15379A>C (p.Arg5127=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020378	NM_033026.6(PCLO):c.935G>A (p.Gly312Glu)	PCLO (G312E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019087	NM_033026.6(PCLO):c.9135A>G (p.Pro3045=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015761	NM_033026.6(PCLO):c.1650G>A (p.Ser550=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015520	NM_033026.6(PCLO):c.10353T>C (p.Asp3451=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014928	NM_033026.6(PCLO):c.258G>A (p.Glu86=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014680	NM_033026.6(PCLO):c.2510G>A (p.Ser837Asn)	PCLO (S837N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014524	NM_033026.6(PCLO):c.2616A>C (p.Pro872=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011126	NM_033026.6(PCLO):c.8844A>G (p.Pro2948=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010223	NM_033026.6(PCLO):c.1481C>T (p.Pro494Leu)	PCLO (P494L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009873	NM_033026.6(PCLO):c.6140C>G (p.Thr2047Ser)	PCLO (T2047S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008744	NM_033026.6(PCLO):c.14416-17del	PCLO	Deletion (intron variant)	not provided	GLikely benign
Select item 3008616	NM_033026.6(PCLO):c.3699G>C (p.Lys1233Asn)	PCLO (K1233N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008347	NM_033026.6(PCLO):c.15289-20T>C	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008029	NM_033026.6(PCLO):c.3858A>G (p.Gln1286=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007331	NM_033026.6(PCLO):c.4585C>T (p.Arg1529Ter)	PCLO (R1529*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3006924	NM_033026.6(PCLO):c.9396C>T (p.Ala3132=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006509	NM_033026.6(PCLO):c.3300+6_3300+7insATATATATATATATATATA	PCLO	Insertion (intron variant)	not provided	GLikely benign
Select item 3005704	NM_033026.6(PCLO):c.11168C>T (p.Thr3723Ile)	PCLO (T3723I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005571	NM_033026.6(PCLO):c.1494G>A (p.Lys498=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004401	NM_033026.6(PCLO):c.2736T>A (p.Ile912=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002368	NM_033026.6(PCLO):c.4608A>T (p.Ser1536=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001606	NM_033026.6(PCLO):c.3049A>G (p.Thr1017Ala)	PCLO (T1017A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998781	NM_033026.6(PCLO):c.5610T>C (p.Phe1870=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998714	NM_033026.6(PCLO):c.10605A>G (p.Arg3535=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997478	NM_033026.6(PCLO):c.14832C>T (p.Ser4944=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996021	NM_033026.6(PCLO):c.14580C>T (p.Phe4860=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995901	NM_033026.6(PCLO):c.9098-8T>C	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995860	NM_033026.6(PCLO):c.1647C>T (p.Pro549=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995713	NM_033026.6(PCLO):c.14344-16T>A	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995229	NM_033026.6(PCLO):c.11199C>G (p.Ser3733=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994208	NM_033026.6(PCLO):c.823C>A (p.Gln275Lys)	PCLO (Q275K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993797	NM_033026.6(PCLO):c.9404A>T (p.His3135Leu)	PCLO (H3135L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993059	NM_033026.6(PCLO):c.13357T>C (p.Leu4453=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992453	NM_033026.6(PCLO):c.8727C>T (p.Val2909=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992232	NM_033026.6(PCLO):c.13389G>T (p.Leu4463=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990761	NM_033026.6(PCLO):c.1584A>G (p.Lys528=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990430	NM_033026.6(PCLO):c.7014C>T (p.Thr2338=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990140	NM_033026.6(PCLO):c.10698A>T (p.Gly3566=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988514	NM_033026.6(PCLO):c.1005C>T (p.Pro335=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986509	NM_033026.6(PCLO):c.9921G>A (p.Leu3307=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985778	NM_033026.6(PCLO):c.216C>T (p.Pro72=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985102	NM_033026.6(PCLO):c.14250-15T>A	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984855	NM_033026.6(PCLO):c.2647C>T (p.Pro883Ser)	PCLO (P883S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984410	NM_033026.6(PCLO):c.7332A>G (p.Thr2444=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984196	NM_033026.6(PCLO):c.5403G>A (p.Lys1801=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983726	NM_033026.6(PCLO):c.8317C>T (p.Pro2773Ser)	PCLO (P2773S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981669	NM_033026.6(PCLO):c.9906G>A (p.Gln3302=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981114	NM_033026.6(PCLO):c.6438A>G (p.Val2146=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980402	NM_033026.6(PCLO):c.888C>T (p.Pro296=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980145	NM_033026.6(PCLO):c.248+12A>G	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980076	NM_033026.6(PCLO):c.3300+6_3300+7insATATATATATATATATATATATA	PCLO	Insertion (intron variant)	not provided	GLikely benign

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