ClinVar for MedGen (Select 863293) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3575534	NM_172240.3(POC1B):c.8C>T (p.Ser3Leu)	LOC130008357, POC1B +2 more (Q90* +1 more)	Single nucleotide variant (missense variant +3 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575533	NM_172240.3(POC1B):c.15+5G>C	LOC130008357, POC1B +2 more	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575532	NM_172240.3(POC1B):c.47G>T (p.Gly16Val)	LOC130008356, POC1B +1 more (A103S +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575531	NM_172240.3(POC1B):c.76C>G (p.Leu26Val)	POC1B-GALNT4, LOC130008356 +1 more (L26V)	Single nucleotide variant (missense variant +3 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575529	NM_172240.3(POC1B):c.193A>T (p.Ser65Cys)	POC1B (S65C +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575528	NM_172240.3(POC1B):c.227C>T (p.Ala76Val)	POC1B (A76V +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575527	NM_172240.3(POC1B):c.239G>A (p.Arg80Gln)	POC1B (R38Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575526	NM_172240.3(POC1B):c.287C>T (p.Ser96Leu)	POC1B (S54L +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575525	NM_172240.3(POC1B):c.304A>G (p.Thr102Ala)	POC1B (T60A +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575524	NM_172240.3(POC1B):c.311C>T (p.Pro104Leu)	POC1B (P62L +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575523	NM_172240.3(POC1B):c.317G>T (p.Arg106Leu)	POC1B (R106L +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575522	NM_172240.3(POC1B):c.382G>C (p.Val128Leu)	POC1B (V128L +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575521	NM_172240.3(POC1B):c.398G>C (p.Arg133Pro)	POC1B (R133P +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575520	NM_172240.3(POC1B):c.434A>G (p.His145Arg)	POC1B (H15R +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575519	NM_172240.3(POC1B):c.494A>G (p.Asp165Gly)	POC1B (D123G +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575518	NM_172240.3(POC1B):c.686G>T (p.Gly229Val)	POC1B (G99V +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575517	NM_172240.3(POC1B):c.750dup (p.Thr251fs)	POC1B (T121fs +2 more)	Duplication (frameshift variant +1 more)	Cone-rod dystrophy 20	GLikely pathogenic
Select item 3575516	NM_172240.3(POC1B):c.814C>T (p.Pro272Ser)	POC1B (P142S +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575515	NM_172240.3(POC1B):c.896C>T (p.Thr299Ile)	POC1B (T169I +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575514	NM_172240.3(POC1B):c.922G>C (p.Gly308Arg)	POC1B (G178R +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575513	NM_172240.3(POC1B):c.950T>C (p.Leu317Ser)	POC1B (L187S +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575511	NM_172240.3(POC1B):c.1032+1G>A	POC1B	Single nucleotide variant (splice donor variant)	Cone-rod dystrophy 20	GLikely pathogenic
Select item 3575510	NM_172240.3(POC1B):c.1054del (p.Ile352fs)	POC1B (I352fs +1 more)	Deletion (frameshift variant +2 more)	Cone-rod dystrophy 20	GLikely pathogenic
Select item 3575509	NM_172240.3(POC1B):c.1124C>G (p.Thr375Ser)	POC1B (T333S +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575508	NM_172240.3(POC1B):c.1185C>T (p.Ser395=)	POC1B	Single nucleotide variant (synonymous variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575507	NM_172240.3(POC1B):c.1228A>G (p.Thr410Ala)	POC1B (T368A +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575506	NM_172240.3(POC1B):c.1334C>T (p.Thr445Ile)	POC1B (T403I +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575505	NM_172240.3(POC1B):c.1351C>G (p.Gln451Glu)	POC1B (Q409E +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575504	NM_172240.3(POC1B):c.1366A>G (p.Thr456Ala)	POC1B (T414A +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3575503	NM_172240.3(POC1B):c.1383A>T (p.Lys461Asn)	POC1B (K419N +1 more)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 3249706	NM_172240.3(POC1B):c.1214C>T (p.Thr405Ile)	POC1B (T363I +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 2137396	NM_172240.3(POC1B):c.1033-3C>T	POC1B	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1949676	NM_172240.3(POC1B):c.46G>A (p.Gly16Ser)	LOC130008356, POC1B +1 more (G16S)	Single nucleotide variant (missense variant +3 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1699082	NM_172240.3(POC1B):c.103A>G (p.Thr35Ala)	POC1B (T35A)	Single nucleotide variant (5 prime UTR variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 1639201	NM_172240.3(POC1B):c.1113+13_1113+14insG	POC1B	Insertion (intron variant)	Cone-rod dystrophy 20 +1 more	GConflicting classifications of pathogenicity
Select item 1523975	NM_172240.3(POC1B):c.254G>A (p.Arg85Lys)	POC1B (R85K +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1519783	NM_172240.3(POC1B):c.88G>A (p.Gly30Ser)	LOC130008356, POC1B +1 more (G30S)	Single nucleotide variant (missense variant +3 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1479615	NM_172240.3(POC1B):c.716C>T (p.Ser239Leu)	POC1B (S197L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1474755	NM_172240.3(POC1B):c.1238T>C (p.Met413Thr)	POC1B (M413T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1473088	NM_172240.3(POC1B):c.1012G>A (p.Glu338Lys)	POC1B (E296K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1424387	NM_172240.3(POC1B):c.523A>G (p.Asn175Asp)	POC1B (N133D +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1403111	NM_172240.3(POC1B):c.1057G>A (p.Asp353Asn)	POC1B (D311N +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1371843	NM_172240.3(POC1B):c.1425A>C (p.Gln475His)	POC1B (Q433H +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1323482	NM_172240.3(POC1B):c.417del (p.Leu140fs)	POC1B (L140fs +1 more)	Deletion (frameshift variant +1 more)	Cone-rod dystrophy 20	GPathogenic
Select item 1213880	NM_172240.3(POC1B):c.593G>A (p.Gly198Asp)	POC1B (G156D +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 1172722	NM_172240.3(POC1B):c.1332+5G>A	POC1B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1121607	NM_172240.3(POC1B):c.250G>A (p.Val84Met)	POC1B (V42M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1106634	NM_172240.3(POC1B):c.1259G>C (p.Ser420Thr)	POC1B (S378T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1078187	NM_172240.3(POC1B):c.132A>T (p.Leu44=)	POC1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1066266	NM_172240.3(POC1B):c.453-7_453-2del	POC1B	Deletion (splice acceptor variant)	Cone-rod dystrophy 20 +1 more	GLikely pathogenic
Select item 1052229	NM_172240.3(POC1B):c.1216A>T (p.Thr406Ser)	POC1B (T364S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1051551	NM_172240.3(POC1B):c.1285A>G (p.Thr429Ala)	POC1B (T387A +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1051228	NM_172240.3(POC1B):c.654C>G (p.Asn218Lys)	POC1B (N176K +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1046589	NM_172240.3(POC1B):c.325G>A (p.Asp109Asn)	POC1B (D67N +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1029264	NM_172240.3(POC1B):c.144del (p.Lys48fs)	POC1B (K48fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1021138	NM_172240.3(POC1B):c.179A>G (p.Lys60Arg)	POC1B (K18R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 1021096	NM_172240.3(POC1B):c.403C>T (p.Arg135Cys)	POC1B (R135C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1016240	NM_172240.3(POC1B):c.344A>G (p.Gln115Arg)	POC1B (Q115R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1014390	NM_172240.3(POC1B):c.1006C>A (p.His336Asn)	POC1B (H294N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1014152	NM_172240.3(POC1B):c.1217C>T (p.Thr406Met)	POC1B (T364M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1013706	NM_172240.3(POC1B):c.460C>T (p.Pro154Ser)	POC1B (P112S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1009822	NM_172240.3(POC1B):c.1239G>A (p.Met413Ile)	POC1B (M371I +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 992468	NM_172240.3(POC1B):c.52A>T (p.Lys18Ter)	POC1B-GALNT4, LOC130008356 +1 more (K18*)	Single nucleotide variant (nonsense +3 more)	Cone-rod dystrophy 20	GLikely pathogenic
Select item 987339	NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs)	POC1B (T403fs +1 more)	Duplication (frameshift variant +1 more)	Cone-rod dystrophy 20 +1 more	GPathogenic/Likely pathogenic
Select item 964371	NM_172240.3(POC1B):c.424C>T (p.Arg142Ter)	POC1B (R100* +1 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod dystrophy 20 +1 more	GPathogenic/Likely pathogenic
Select item 961472	NM_172240.3(POC1B):c.923G>A (p.Gly308Asp)	POC1B (G266D +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +2 more	GConflicting classifications of pathogenicity
Select item 957075	NM_172240.3(POC1B):c.1032+4A>G	POC1B	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 946972	NM_172240.3(POC1B):c.433C>T (p.His145Tyr)	POC1B (H103Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 938183	NM_172240.3(POC1B):c.802G>A (p.Gly268Arg)	POC1B (G226R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 935892	NM_172240.3(POC1B):c.1202G>A (p.Cys401Tyr)	POC1B (C359Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GUncertain significance
Select item 859795	NM_172240.3(POC1B):c.101-3T>G	POC1B	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20 +1 more	GPathogenic/Likely pathogenic
Select item 859104	NM_172240.3(POC1B):c.676+1G>A	POC1B	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 855489	NM_172240.3(POC1B):c.10G>A (p.Ala4Thr)	LOC130008357, POC1B +2 more (A4T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 677291	NM_172240.3(POC1B):c.453-12_453-3del	POC1B	Microsatellite (intron variant)	Cone-rod dystrophy 20 +1 more	GBenign
Select item 677224	NM_172240.3(POC1B):c.1113+7C>T	POC1B	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20 +1 more	GBenign
Select item 155771	NM_172240.3(POC1B):c.810+1G>T	POC1B	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 155770	NM_172240.3(POC1B):c.199_201del (p.Gln67del)	POC1B (Q67del +1 more)	Deletion (inframe_deletion)	Cone-rod dystrophy 20	GPathogenic
Select item 155769	NM_172240.3(POC1B):c.317G>C (p.Arg106Pro)	POC1B (R106P +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 20 +1 more	GPathogenic

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Items: 78