ClinVar for MedGen (Select 162898) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679677	NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr)	NAA10 (D125Y +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome +1 more	GUncertain significance
Select item 1648582	NM_003491.4(NAA10):c.179+20G>A	NAA10	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1337408	NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr)	BCOR, LOC126863239 (H360Y)	Single nucleotide variant (missense variant)	Microphthalmia, syndromic 1 +2 more	GUncertain significance
Select item 1065122	NM_003491.4(NAA10):c.455_458del (p.Thr152fs)	NAA10 (T137fs +2 more)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 973227	NM_003491.4(NAA10):c.257T>G (p.Leu86Arg)	NAA10 (L80R +1 more)	Single nucleotide variant (missense variant)	Microphthalmia, syndromic 1 +1 more	GPathogenic
Select item 916544	NM_003491.4(NAA10):c.47A>C (p.His16Pro)	NAA10 (H16P)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 760314	NM_001123385.2(BCOR):c.2423T>A (p.Leu808His)	BCOR (L808H)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GBenign/Likely benign
Select item 696167	NM_001123385.2(BCOR):c.482C>T (p.Ala161Val)	BCOR, LOC126863239 (A161V)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +3 more	GBenign/Likely benign
Select item 617463	NM_003491.4(NAA10):c.*43A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, syndromic 1	GLikely pathogenic
Select item 617462	NM_003491.4(NAA10):c.*39A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 617458	NM_003491.4(NAA10):c.*40A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 591128	NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)	BCOR (L808H)	Indel (missense variant)	Microphthalmia, syndromic 1 +2 more	GBenign/Likely benign
Select item 434506	NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=)	BCOR	Single nucleotide variant (synonymous variant)	Oculofaciocardiodental syndrome +2 more	GBenign/Likely benign
Select item 210518	NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)	BCOR (V679I)	Single nucleotide variant (missense variant)	Oculofaciocardiodental syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133688	NM_001123385.2(BCOR):c.409G>A (p.Val137Ile)	BCOR, LOC126863239 (V137I)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 102423	NM_003491.4(NAA10):c.471+2T>A	NAA10	Single nucleotide variant (splice donor variant)	Microphthalmia, syndromic 1	GPathogenic
Select item 95768	NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser)	BCOR (G709S)	Single nucleotide variant (missense variant)	Microphthalmia, syndromic 1 +2 more	GUncertain significance