PCLO[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 2793

<< First< Prev

Page of 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 545351	NC_000007.14:g.(?_81478831)_(84097791_?)del	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 254281	Single allele	CACNA2D1, CACNA2D1-AS1 +25 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 150218	GRCh38/hg38 7q21.11(chr7:82031869-82831385)x1	CACNA2D1, LOC110121310 +4 more	Copy number loss	See cases	GUncertain significance
Select item 153742	GRCh38/hg38 7q21.11(chr7:82173261-82873216)x3	CACNA2D1, LOC110121310 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2095356	NM_033026.6(PCLO):c.15426T>C (p.His5142=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542368	NM_033026.6(PCLO):c.15425A>G (p.His5142Arg)	PCLO (H5142R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1594585	NM_033026.6(PCLO):c.15423G>A (p.Thr5141=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537313	NM_033026.6(PCLO):c.15423G>T (p.Thr5141=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503407	NM_033026.6(PCLO):c.15422C>T (p.Thr5141Met)	PCLO (T5141M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476443	NM_033026.6(PCLO):c.15415A>G (p.Thr5139Ala)	PCLO (T5139A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909421	NM_033026.6(PCLO):c.15413C>T (p.Pro5138Leu)	PCLO (P5138L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423411	NM_033026.6(PCLO):c.15400C>G (p.Leu5134Val)	PCLO (L5134V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021249	NM_033026.6(PCLO):c.15379A>C (p.Arg5127=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944786	NM_033026.6(PCLO):c.15365T>A (p.Val5122Glu)	PCLO (V5122E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413261	NM_033026.6(PCLO):c.15361A>C (p.Lys5121Gln)	PCLO (K5121Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600328	NM_033026.6(PCLO):c.15360C>T (p.Asp5120=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1461920	NM_033026.6(PCLO):c.15356T>C (p.Leu5119Pro)	PCLO (L5119P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950332	NM_033026.6(PCLO):c.15345C>T (p.Ala5115=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785045	NM_033026.6(PCLO):c.15339T>C (p.Gly5113=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941507	NM_033026.6(PCLO):c.15333G>A (p.Leu5111=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562915	NM_033026.6(PCLO):c.15306T>C (p.Asn5102=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337817	NM_033026.6(PCLO):c.15305A>G (p.Asn5102Ser)	PCLO (N5102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1444868	NM_033026.6(PCLO):c.15299T>C (p.Phe5100Ser)	PCLO (F5100S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533917	NM_033026.6(PCLO):c.15293T>C (p.Leu5098Ser)	PCLO (L5098S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1489740	NM_033026.6(PCLO):c.15289A>G (p.Ile5097Val)	PCLO (I5097V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023951	NM_033026.6(PCLO):c.15289-4C>A	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590969	NM_033026.6(PCLO):c.15289-5dup	PCLO	Duplication (intron variant)	PCLO-related disorder +1 more	GBenign/Likely benign
Select item 1994695	NM_033026.6(PCLO):c.15289-16del	PCLO	Deletion (intron variant)	not provided	GBenign
Select item 3008347	NM_033026.6(PCLO):c.15289-20T>C	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560123	NM_033026.6(PCLO):c.15288+20T>C	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952767	NM_033026.6(PCLO):c.15288+15T>C	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070846	NM_033026.6(PCLO):c.15288+13T>A	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544629	NM_033026.6(PCLO):c.15288+7C>A	PCLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1477561	NM_033026.6(PCLO):c.15283C>T (p.Leu5095Phe)	PCLO (L5095F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2330394	NM_033026.6(PCLO):c.15281C>T (p.Ser5094Phe)	PCLO (S5094F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1349085	NM_033026.6(PCLO):c.15277C>T (p.His5093Tyr)	PCLO (H5093Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123682	NM_033026.6(PCLO):c.15271G>A (p.Ala5091Thr)	PCLO (A5091T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007289	NM_033026.6(PCLO):c.15270T>C (p.Pro5090=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299286	NM_033026.6(PCLO):c.15265A>T (p.Ser5089Cys)	PCLO (S5089C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1362563	NM_033026.6(PCLO):c.15259A>G (p.Ser5087Gly)	PCLO (S5087G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442750	NM_033026.6(PCLO):c.15254G>A (p.Arg5085Gln)	PCLO (R5085Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117912	NM_033026.6(PCLO):c.15249T>G (p.Thr5083=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897403	NM_033026.6(PCLO):c.15248C>A (p.Thr5083Asn)	PCLO (T5083N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539610	NM_033026.6(PCLO):c.15243T>C (p.Asn5081=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364513	NM_033026.6(PCLO):c.15241A>G (p.Asn5081Asp)	PCLO (N5081D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540406	NM_033026.6(PCLO):c.15237G>A (p.Ser5079=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397745	NM_033026.6(PCLO):c.15232C>G (p.Pro5078Ala)	PCLO (P5078A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905709	NM_033026.6(PCLO):c.15228A>C (p.Arg5076=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1612109	NM_033026.6(PCLO):c.15216C>T (p.Cys5072=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539691	NM_033026.6(PCLO):c.15213A>G (p.Val5071=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063756	NM_033026.6(PCLO):c.15206C>T (p.Thr5069Ile)	PCLO (T5069I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467688	NM_033026.6(PCLO):c.15188A>G (p.Lys5063Arg)	PCLO (K5063R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406361	NM_033026.6(PCLO):c.15183A>G (p.Gln5061=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2018063	NM_033026.6(PCLO):c.15181del (p.Gln5061fs)	PCLO (Q5061fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1446150	NM_033026.6(PCLO):c.15178A>G (p.Thr5060Ala)	PCLO (T5060A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1935228	NM_033026.6(PCLO):c.15172A>G (p.Ile5058Val)	PCLO (I5058V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 722122	NM_033026.6(PCLO):c.15171T>C (p.Asn5057=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1473154	NM_033026.6(PCLO):c.15167T>C (p.Met5056Thr)	PCLO (M5056T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967717	NM_033026.6(PCLO):c.15166A>T (p.Met5056Leu)	PCLO (M5056L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941815	NM_033026.6(PCLO):c.15164T>C (p.Val5055Ala)	PCLO (V5055A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184992	NM_033026.6(PCLO):c.15160T>C (p.Tyr5054His)	PCLO (Y5054H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1409911	NM_033026.6(PCLO):c.15159A>G (p.Ile5053Met)	PCLO (I5053M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870496	NM_033026.6(PCLO):c.15156A>G (p.Lys5052=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874380	NM_033026.6(PCLO):c.15153G>C (p.Val5051=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949964	NM_033026.6(PCLO):c.15153G>T (p.Val5051=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847331	NM_033026.6(PCLO):c.15150T>C (p.Tyr5050=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638225	NM_033026.6(PCLO):c.15143-8_15143-6del	PCLO	Deletion (intron variant)	not provided	GLikely benign
Select item 1535572	NM_033026.6(PCLO):c.15143-8A>T	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638740	NM_033026.6(PCLO):c.15143-19G>A	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094892	NM_033026.6(PCLO):c.15142+17T>C	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648097	NM_033026.6(PCLO):c.15142+13A>G	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846723	NM_033026.6(PCLO):c.15142+8A>G	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1357759	NM_033026.6(PCLO):c.15142+5C>A	PCLO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1367503	NM_033026.6(PCLO):c.15133C>T (p.His5045Tyr)	PCLO (H5045Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632993	NM_033026.6(PCLO):c.15112T>C (p.Tyr5038His)	PCLO (Y5038H)	Single nucleotide variant (missense variant)	PCLO-related disorder	GUncertain significance
Select item 1468625	NM_033026.6(PCLO):c.15097T>A (p.Cys5033Ser)	PCLO (C5033S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990453	NM_033026.6(PCLO):c.15083T>C (p.Val5028Ala)	PCLO (V5028A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380370	NM_033026.6(PCLO):c.15079A>G (p.Ile5027Val)	PCLO (I5027V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1631203	NM_033026.6(PCLO):c.15075A>G (p.Gln5025=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094374	NM_033026.6(PCLO):c.15073C>A (p.Gln5025Lys)	PCLO (Q5025K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506871	NM_033026.6(PCLO):c.15067G>A (p.Gly5023Ser)	PCLO (G5023S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606916	NM_033026.6(PCLO):c.15066T>C (p.Asp5022=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450673	NM_033026.6(PCLO):c.15055A>G (p.Met5019Val)	PCLO (M5019V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2901684	NM_033026.6(PCLO):c.15048G>A (p.Lys5016=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426758	NM_033026.6(PCLO):c.15040G>A (p.Ala5014Thr)	PCLO (A5014T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612272	NM_033026.6(PCLO):c.15036G>A (p.Lys5012=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463099	NM_033026.6(PCLO):c.15031A>G (p.Ile5011Val)	PCLO (I5011V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060527	NM_033026.6(PCLO):c.15018G>A (p.Gln5006=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413682	NM_033026.6(PCLO):c.15018G>T (p.Gln5006His)	PCLO (Q5006H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612489	NM_033026.6(PCLO):c.15008-4C>T	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743418	NM_033026.6(PCLO):c.15008-7C>A	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669986	NM_033026.6(PCLO):c.15008-15A>G	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701680	NM_033026.6(PCLO):c.14792-2882_15007+2592dup	PCLO	Duplication (splice acceptor variant +1 more)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 1909382	NM_033026.6(PCLO):c.15007+18A>G	PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094261	NM_033026.6(PCLO):c.15007+11dup	PCLO	Duplication (intron variant)	not provided	GBenign
Select item 1959102	NM_033026.6(PCLO):c.15003T>G (p.Thr5001=)	PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 28