ClinVar for MedGen (Select 863293) - ClinVar - NCBI

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

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 (non-coding transcript variant +1 more)	Cone-rod dystrophy 20	GUncertain significance
Select item 1172722	NM_172240.3(POC1B):c.1332+5G>A	LOC105369889, POC1B	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20 +1 more	GConflicting classifications of pathogenicity
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 992468	NM_172240.3(POC1B):c.52A>T (p.Lys18Ter)	LOC130008356, POC1B +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)	LOC105369889, POC1B (T403fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 859795	NM_172240.3(POC1B):c.101-3T>G	POC1B	Single nucleotide variant (intron variant)	Cone-rod dystrophy 20 +1 more	GPathogenic
Select item 677291	NM_172240.3(POC1B):c.453-12_453-3del	POC1B	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 677224	NM_172240.3(POC1B):c.1113+7C>T	POC1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 155771	NM_172240.3(POC1B):c.810+1G>T	POC1B	Single nucleotide variant (splice donor variant)	not provided	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