ClinVar for MedGen (Select 477078) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17053061.	NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys) GRCh37: ChrX:153199447 GRCh38: ChrX:153933994	NAA10	Y43C	Ogden syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16874002.	NM_003491.4(NAA10):c.112T>G (p.Trp38Gly) GRCh37: ChrX:153199838 GRCh38: ChrX:153934385	NAA10	W38G	Ogden syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16796773.	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 16485824.	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 13344225.	NM_003491.4(NAA10):c.30C>G (p.Asp10Glu) GRCh37: ChrX:153199920 GRCh38: ChrX:153934467	NAA10	D10E	Ogden syndrome	Uncertain significance (May 6, 2021)	no assertion criteria provided
Select item 13275686.	NM_003491.4(NAA10):c.469G>A (p.Glu157Lys) GRCh37: ChrX:153196218 GRCh38: ChrX:153930765	NAA10	E142K, E151K, E157K	Ogden syndrome	Likely pathogenic	criteria provided, single submitter
Select item 13267247.	NM_003491.4(NAA10):c.347G>A (p.Arg116Gln) GRCh37: ChrX:153197563 GRCh38: ChrX:153932110	NAA10	R110Q, R116Q	Ogden syndrome, not provided	Conflicting interpretations of pathogenicity (May 20, 2022)	criteria provided, conflicting interpretations
Select item 13218348.	NM_003491.4(NAA10):c.190C>T (p.Pro64Ser) GRCh37: ChrX:153198027 GRCh38: ChrX:153932574	NAA10	P58S, P64S	Ogden syndrome	Likely benign (Sep 5, 2021)	criteria provided, single submitter
Select item 13001589.	NM_003491.4(NAA10):c.16G>C (p.Ala6Pro) GRCh37: ChrX:153200342 GRCh38: ChrX:153934889	NAA10	A6P	Ogden syndrome	Pathogenic	criteria provided, single submitter
Select item 102812310.	NM_003491.4(NAA10):c.534C>A (p.Asn178Lys) GRCh37: ChrX:153195614 GRCh38: ChrX:153930161	NAA10	N172K, N178K, N163K	Ogden syndrome	Uncertain significance (Aug 3, 2019)	criteria provided, single submitter
Select item 102812211.	NM_003491.4(NAA10):c.472-2A>C GRCh37: ChrX:153195678 GRCh38: ChrX:153930225	NAA10		Ogden syndrome	Pathogenic (May 5, 2020)	criteria provided, single submitter
Select item 98500112.	NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) GRCh37: ChrX:153196242 GRCh38: ChrX:153930789	NAA10	R134W, R143W, R149W	Ogden syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 98306613.	NM_003491.4(NAA10):c.430G>A (p.Ala144Thr) GRCh37: ChrX:153196257 GRCh38: ChrX:153930804	NAA10	A129T, A138T, A144T	Ogden syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97322714.	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 92944015.	NM_003491.4(NAA10):c.303C>A (p.Asn101Lys) GRCh37: ChrX:153197807 GRCh38: ChrX:153932354	NAA10	N101K, N95K	Ogden syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2022)	criteria provided, conflicting interpretations
Select item 87009816.	NM_003491.4(NAA10):c.303C>G (p.Asn101Lys) GRCh37: ChrX:153197807 GRCh38: ChrX:153932354	NAA10	N101K, N95K	Ogden syndrome	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 84353517.	NM_003491.4(NAA10):c.386A>C (p.Gln129Pro) GRCh37: ChrX:153197524 GRCh38: ChrX:153932071	NAA10	Q129P, Q123P	Ogden syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 31, 2021)	criteria provided, conflicting interpretations
Select item 80412218.	NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) GRCh37: ChrX:153199834 GRCh38: ChrX:153934381	NAA10	P39L	Ogden syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80412119.	NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) GRCh37: ChrX:153197533 GRCh38: ChrX:153932080	NAA10	L126R, L120R	Ogden syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 63703420.	NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) GRCh37: ChrX:153199835 GRCh38: ChrX:153934382	NAA10	P39T	Ogden syndrome	Likely pathogenic (May 17, 2018)	criteria provided, single submitter
Select item 56106121.	NM_003491.4(NAA10):c.494_495del (p.Lys165fs) GRCh37: ChrX:153195653-153195654 GRCh38: ChrX:153930200-153930201	NAA10	K150fs, K159fs, K165fs	Ogden syndrome	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 52054222.	NM_003491.4(NAA10):c.332T>G (p.Val111Gly) GRCh37: ChrX:153197778 GRCh38: ChrX:153932325	NAA10	V111G, V105G	Ogden syndrome	Pathogenic (Feb 16, 2018)	no assertion criteria provided
Select item 48855823.	NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) GRCh37: ChrX:153197851 GRCh38: ChrX:153932398	NAA10	A87S, A81S	Ogden syndrome	Likely pathogenic (Dec 13, 2017)	criteria provided, single submitter
Select item 43170824.	NM_003491.4(NAA10):c.361C>G (p.Leu121Val) GRCh37: ChrX:153197549 GRCh38: ChrX:153932096	NAA10	L121V, L115V	Ogden syndrome	Likely pathogenic	criteria provided, single submitter
Select item 39131625.	NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) GRCh37: ChrX:153197875 GRCh38: ChrX:153932422	NAA10	R79C, R73C	Ogden syndrome, Intellectual disability, not specified, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 37538826.	NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) GRCh37: ChrX:153198002 GRCh38: ChrX:153932549	NAA10	I72T, I66T	Ogden syndrome	Likely pathogenic (Mar 21, 2016)	criteria provided, single submitter
Select item 28023727.	NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) GRCh37: ChrX:153197526 GRCh38: ChrX:153932073	NAA10	F128L, F122L	Ogden syndrome, not provided	Pathogenic (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23625928.	NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) GRCh37: ChrX:153197528 GRCh38: ChrX:153932075	NAA10	F128I, F122I	Ogden syndrome, Intellectual disability	Pathogenic/Likely pathogenic (Mar 31, 2016)	criteria provided, multiple submitters, no conflicts
Select item 23625829.	NM_003491.4(NAA10):c.384T>A (p.Phe128Leu) GRCh37: ChrX:153197526 GRCh38: ChrX:153932073	NAA10	F128L, F122L	not provided, Ogden syndrome	Pathogenic (Oct 9, 2019)	criteria provided, multiple submitters, no conflicts
Select item 21810430.	NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) GRCh37: ChrX:153199447 GRCh38: ChrX:153933994	NAA10	Y43S	Ogden syndrome	Pathogenic (Nov 2, 2015)	no assertion criteria provided
Select item 20866431.	NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) GRCh37: ChrX:153197863 GRCh38: ChrX:153932410	NAA10	R83C, R77C	Ogden syndrome, Inborn genetic diseases, not provided, Intellectual disability, See cases	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13964432.	NM_003491.4(NAA10):c.346C>T (p.Arg116Trp) GRCh37: ChrX:153197564 GRCh38: ChrX:153932111	NAA10	R116W, R110W	not provided, Ogden syndrome	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13964333.	NM_003491.4(NAA10):c.319G>T (p.Val107Phe) GRCh37: ChrX:153197791 GRCh38: ChrX:153932338	NAA10	V107F, V101F	Ogden syndrome	Pathogenic (May 1, 2015)	no assertion criteria provided
Select item 2992734.	NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) GRCh37: ChrX:153199841 GRCh38: ChrX:153934388	NAA10	S37P	Ogden syndrome	Pathogenic (Jul 15, 2011)	no assertion criteria provided

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Items: 34