ClinVar for MedGen (Select 162898) - ClinVar - NCBI

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Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16796771.	NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr) GRCh37: ChrX:153196269 GRCh38: ChrX:153930816	NAA10	D125Y, D134Y, D140Y	Microphthalmia, syndromic 1, Ogden syndrome	Uncertain significance (May 14, 2021)	criteria provided, single submitter
Select item 16485822.	NM_003491.4(NAA10):c.179+20G>A GRCh37: ChrX:153199376 GRCh38: ChrX:153933923	NAA10		Microphthalmia, syndromic 1, Ogden syndrome, not provided	Benign/Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13374083.	NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) GRCh37: ChrX:39933521 GRCh38: ChrX:40074268	BCOR, LOC126863239	H360Y	not specified, Microphthalmia, syndromic 1, Oculofaciocardiodental syndrome	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10651224.	NM_003491.4(NAA10):c.455_458del (p.Thr152fs) GRCh37: ChrX:153196229-153196232 GRCh38: ChrX:153930776-153930779	NAA10	T137fs, T146fs, T152fs	not provided	Conflicting interpretations of pathogenicity (Apr 24, 2023)	criteria provided, conflicting interpretations
Select item 9732275.	NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) GRCh37: ChrX:153197853 GRCh38: ChrX:153932400	NAA10	L80R, L86R	Ogden syndrome, Microphthalmia, syndromic 1	Pathogenic (Apr 4, 2018)	criteria provided, single submitter
Select item 9165446.	NM_003491.4(NAA10):c.47A>C (p.His16Pro) GRCh37: ChrX:153199903 GRCh38: ChrX:153934450	NAA10	H16P	Intellectual disability, Neurodevelopmental disorder, Microphthalmia, syndromic 1, Intellectual disability, severe	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7603147.	NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) GRCh37: ChrX:39932176 GRCh38: ChrX:40072923	BCOR	L808H	Microphthalmia, syndromic 1, Oculofaciocardiodental syndrome, not provided	Benign/Likely benign (Jul 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6961678.	NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) GRCh37: ChrX:39934117 GRCh38: ChrX:40074864	LOC126863239, BCOR	A161V	Microphthalmia, syndromic 1, Oculofaciocardiodental syndrome, Inborn genetic diseases, Oculofaciocardiodental syndrome	Benign/Likely benign (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6174639.	NM_003491.4(NAA10):c.*43A>G GRCh37: ChrX:153195397 GRCh38: ChrX:153929944	NAA10		Microphthalmia, syndromic 1	Likely pathogenic (Jan 14, 2019)	criteria provided, single submitter
Select item 61746210.	NM_003491.4(NAA10):c.*39A>G GRCh37: ChrX:153195401 GRCh38: ChrX:153929948	NAA10		Microphthalmia, syndromic 1, not provided	Pathogenic/Likely pathogenic (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61745811.	NM_003491.4(NAA10):c.*40A>G GRCh37: ChrX:153195400 GRCh38: ChrX:153929947	NAA10		Microphthalmia, syndromic 1, not provided	Conflicting interpretations of pathogenicity (Feb 15, 2022)	criteria provided, conflicting interpretations
Select item 59112812.	NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) GRCh37: ChrX:39932175-39932176 GRCh38: ChrX:40072922-40072923	BCOR	L808H	not provided, Oculofaciocardiodental syndrome, Microphthalmia, syndromic 1, Oculofaciocardiodental syndrome	Benign/Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43450613.	NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) GRCh37: ChrX:39914682 GRCh38: ChrX:40055429	BCOR		Oculofaciocardiodental syndrome, Microphthalmia, syndromic 1, not specified, Oculofaciocardiodental syndrome	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21051814.	NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) GRCh37: ChrX:39932564 GRCh38: ChrX:40073311	BCOR	V679I	not specified, Oculofaciocardiodental syndrome, Microphthalmia, syndromic 1	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 13368815.	NM_001123385.2(BCOR):c.409G>A (p.Val137Ile) GRCh37: ChrX:39934190 GRCh38: ChrX:40074937	BCOR, LOC126863239	V137I	Microphthalmia, syndromic 1, Oculofaciocardiodental syndrome, not specified, Oculofaciocardiodental syndrome	Likely benign (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10242316.	NM_003491.4(NAA10):c.471+2T>A GRCh37: ChrX:153196214 GRCh38: ChrX:153930761	NAA10		Microphthalmia, syndromic 1	Pathogenic (Mar 1, 2014)	no assertion criteria provided
Select item 9576817.	NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) GRCh37: ChrX:39932474 GRCh38: ChrX:40073221	BCOR	G709S	not provided, Microphthalmia, syndromic 1, Oculofaciocardiodental syndrome	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts