ClinVar for MedGen (Select 1390862) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13919411.	NM_024928.5(STN1):c.398G>A (p.Arg133Gln) GRCh37: Chr10:105659879 GRCh38: Chr10:103900121	STN1	R133Q	Cerebroretinal microangiopathy with calcifications and cysts 2, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11693882.	NM_024928.5(STN1):c.451A>G (p.Thr151Ala) GRCh37: Chr10:105659826 GRCh38: Chr10:103900068	STN1	T151A	Cerebroretinal microangiopathy with calcifications and cysts 2, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11691563.	NM_024928.5(STN1):c.696G>C (p.Val232=) GRCh37: Chr10:105657363 GRCh38: Chr10:103897605	STN1		Cerebroretinal microangiopathy with calcifications and cysts 2, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11691554.	NM_024928.5(STN1):c.743C>G (p.Ser248Cys) GRCh37: Chr10:105657316 GRCh38: Chr10:103897558	STN1	S248C	Cerebroretinal microangiopathy with calcifications and cysts 2, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10283545.	NM_024928.5(STN1):c.1100C>T (p.Ala367Val) GRCh37: Chr10:105642449 GRCh38: Chr10:103882691	STN1	A367V	Cerebroretinal microangiopathy with calcifications and cysts 2, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7683876.	NM_024928.5(STN1):c.582-4G>A GRCh37: Chr10:105657481 GRCh38: Chr10:103897723	STN1		Cerebroretinal microangiopathy with calcifications and cysts 2, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7288807.	NM_024928.5(STN1):c.793A>C (p.Ser265Arg) GRCh37: Chr10:105651971 GRCh38: Chr10:103892213	STN1	S265R	Cerebroretinal microangiopathy with calcifications and cysts 2, not provided	Conflicting interpretations of pathogenicity (Jan 3, 2023)	criteria provided, conflicting interpretations
Select item 3755928.	NM_024928.5(STN1):c.469G>T (p.Asp157Tyr) GRCh37: Chr10:105658747 GRCh38: Chr10:103898989	STN1	D157Y	Cerebroretinal microangiopathy with calcifications and cysts 2	Pathogenic (Feb 10, 2017)	no assertion criteria provided
Select item 3755919.	NM_024928.5(STN1):c.404G>C (p.Arg135Thr) GRCh37: Chr10:105659873 GRCh38: Chr10:103900115	STN1	R135T	Cerebroretinal microangiopathy with calcifications and cysts 2	Pathogenic (Feb 10, 2017)	no assertion criteria provided