ClinVar for MedGen (Select 1773574) - ClinVar - NCBI

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Items: 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9746111.	NM_001348484.3(RIMS2):c.1595C>G (p.Ser532Ter) GRCh37: Chr8:104898290 GRCh38: Chr8:103886062	RIMS2	S532, S296, S488, S492, S502, S528	Cone-rod synaptic disorder syndrome, congenital nonprogressive	Pathogenic (Jul 29, 2020)	no assertion criteria provided
Select item 9746102.	NM_001348484.3(RIMS2):c.3508C>T (p.Arg1170Ter) GRCh37: Chr8:105026792 GRCh38: Chr8:104014564	RIMS2	R1019, R1066, R1079, R1083, R1093, R1095, R1101, R1105, R1123, R1148, R1152, R1166, R827, R843, R849, R887, R903, R909, R934, R956, R1063, R1121	Cone-rod synaptic disorder syndrome, congenital nonprogressive	Pathogenic (Jul 29, 2020)	no assertion criteria provided
Select item 9746093.	NM_001348484.3(RIMS2):c.4363+1G>A GRCh37: Chr8:105261042 GRCh38: Chr8:104248814	RIMS2		Cone-rod synaptic disorder syndrome, congenital nonprogressive	Pathogenic (Jul 29, 2020)	no assertion criteria provided
Select item 9746084.	NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter) GRCh37: Chr8:104955112 GRCh38: Chr8:103942884	RIMS2	R679, R695, R726, R871, R875, R885, R887, R915, R918, R922, R958, R891	Cone-rod synaptic disorder syndrome, congenital nonprogressive	Pathogenic (Jul 29, 2020)	no assertion criteria provided
Select item 9746075.	NM_001348484.3(RIMS2):c.3126G>A (p.Trp1042Ter) GRCh37: Chr8:104987708 GRCh38: Chr8:103975480	RIMS2	W1002, W1038, W759, W775, W806, W951, W955, W965, W967, W995, W998, W971	Cone-rod synaptic disorder syndrome, congenital nonprogressive	Pathogenic (Jul 29, 2020)	no assertion criteria provided
Select item 7763706.	NM_001348484.3(RIMS2):c.2310-6T>C GRCh37: Chr8:104930663 GRCh38: Chr8:103918435	RIMS2		not provided, Cone-rod synaptic disorder syndrome, congenital nonprogressive	Benign/Likely benign (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7737647.	NM_001348484.3(RIMS2):c.2309+9G>T GRCh37: Chr8:104928774 GRCh38: Chr8:103916546	RIMS2		not provided, Cone-rod synaptic disorder syndrome, congenital nonprogressive	Benign/Likely benign (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts