ClinVar for MedGen (Select 334225) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689670	NM_033026.6(PCLO):c.4849A>G (p.Thr1617Ala)	PCLO (T1617A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 2628101	NM_033026.6(PCLO):c.1656G>T (p.Gln552His)	PCLO (Q552H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 2506068	NM_033026.6(PCLO):c.1451del (p.Pro484fs)	PCLO (P484fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 3	GPathogenic
Select item 2434610	NM_033026.6(PCLO):c.12746T>C (p.Ile4249Thr)	PCLO (I4249T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 2434609	NM_033026.6(PCLO):c.5147G>T (p.Gly1716Val)	PCLO (G1716V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 1900953	NM_033026.6(PCLO):c.12628A>G (p.Arg4210Gly)	PCLO (R4210G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +2 more	GUncertain significance
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 1516146	NM_033026.6(PCLO):c.3562A>G (p.Met1188Val)	PCLO (M1188V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 1452962	NM_033026.6(PCLO):c.4595G>A (p.Ser1532Asn)	PCLO (S1532N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely 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 1419372	NM_033026.6(PCLO):c.11945G>A (p.Arg3982His)	PCLO (R3982H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1392116	NM_033026.6(PCLO):c.6167G>A (p.Arg2056Lys)	PCLO (R2056K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 1381281	NM_033026.6(PCLO):c.13247G>A (p.Arg4416His)	PCLO (R4416H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1378579	NM_033026.6(PCLO):c.12814C>T (p.Arg4272Cys)	PCLO (R4272C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1365205	NM_033026.6(PCLO):c.7664C>T (p.Pro2555Leu)	PCLO (P2555L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 1363693	NM_033026.6(PCLO):c.6916A>G (p.Lys2306Glu)	PCLO (K2306E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342486	NM_033026.6(PCLO):c.5222G>C (p.Ser1741Thr)	PCLO (S1741T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341898	NM_033026.6(PCLO):c.9008G>T (p.Gly3003Val)	PCLO (G3003V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 1336777	NM_033026.6(PCLO):c.10146T>G (p.Thr3382=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1334046	NM_033026.6(PCLO):c.1771C>T (p.Leu591Phe)	PCLO (L591F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334045	NM_033026.6(PCLO):c.12572A>G (p.His4191Arg)	PCLO (H4191R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 1326994	NM_033026.6(PCLO):c.1893+47C>A	PCLO	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 3	GBenign
Select item 1299423	NM_033026.6(PCLO):c.1753C>T (p.Pro585Ser)	PCLO (P585S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 1284557	NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala)	PCLO (S4814A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1279500	NM_033026.6(PCLO):c.1501T>C (p.Ser501Pro)	PCLO (S501P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1270963	NM_033026.6(PCLO):c.2441G>C (p.Ser814Thr)	PCLO (S814T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GBenign
Select item 1257140	NM_033026.6(PCLO):c.860A>G (p.Asp287Gly)	PCLO (D287G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GBenign
Select item 1243461	NM_033026.6(PCLO):c.8778_8780dup (p.Asp2926dup)	PCLO	Duplication (inframe_insertion)	not provided +1 more	GBenign
Select item 1235818	NM_033026.6(PCLO):c.14415+10T>C	PCLO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032315	NM_033026.6(PCLO):c.863T>G (p.Ile288Arg)	PCLO (I288R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 1032314	NM_033026.6(PCLO):c.7375G>T (p.Val2459Phe)	PCLO (V2459F)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	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 1032312	NM_033026.6(PCLO):c.5267G>A (p.Arg1756His)	PCLO (R1756H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032311	NM_033026.6(PCLO):c.2576A>G (p.Gln859Arg)	PCLO (Q859R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 1031532	NM_033026.6(PCLO):c.11671T>C (p.Ser3891Pro)	PCLO (S3891P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031531	NM_033026.6(PCLO):c.10780A>G (p.Thr3594Ala)	PCLO (T3594A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 1029006	NM_033026.6(PCLO):c.9494T>C (p.Leu3165Ser)	PCLO (L3165S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1029003	NM_033026.6(PCLO):c.6533C>A (p.Pro2178His)	PCLO (P2178H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028494	NM_033026.6(PCLO):c.4892A>T (p.Asp1631Val)	PCLO (D1631V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 1028493	NM_033026.6(PCLO):c.4697A>G (p.Asp1566Gly)	PCLO (D1566G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028492	NM_033026.6(PCLO):c.3367C>T (p.Arg1123Cys)	PCLO (R1123C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028491	NM_033026.6(PCLO):c.1585C>A (p.Pro529Thr)	PCLO (P529T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028490	NM_033026.6(PCLO):c.13571C>T (p.Pro4524Leu)	PCLO (P4524L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1028489	NM_033026.6(PCLO):c.11578C>T (p.Pro3860Ser)	PCLO (P3860S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 1028487	NM_033026.6(PCLO):c.10918T>C (p.Phe3640Leu)	PCLO (F3640L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
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 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 800508	NM_033026.6(PCLO):c.2532dup (p.Gln845fs)	PCLO (Q845fs)	Duplication (frameshift variant)	Pontocerebellar hypoplasia type 3	GLikely pathogenic
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 708091	NM_033026.6(PCLO):c.13495A>G (p.Ile4499Val)	PCLO (I4499V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193026	NM_033026.6(PCLO):c.10624C>T (p.Arg3542Ter)	PCLO (R3542*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 3	GPathogenic

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Links from MedGen

Items: 54