ClinVar for MedGen (Select 477078) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705306	NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)	NAA10 (Y43C)	Single nucleotide variant (missense variant)	Ogden syndrome	GLikely pathogenic
Select item 1687400	NM_003491.4(NAA10):c.112T>G (p.Trp38Gly)	NAA10 (W38G)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
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)	Ogden syndrome +2 more	GBenign/Likely benign
Select item 1334422	NM_003491.4(NAA10):c.30C>G (p.Asp10Glu)	NAA10 (D10E)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
Select item 1327568	NM_003491.4(NAA10):c.469G>A (p.Glu157Lys)	NAA10 (E142K +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GLikely pathogenic
Select item 1326724	NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)	NAA10 (R110Q +1 more)	Single nucleotide variant (missense variant +1 more)	Ogden syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1321834	NM_003491.4(NAA10):c.190C>T (p.Pro64Ser)	NAA10 (P58S +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GLikely benign
Select item 1300158	NM_003491.4(NAA10):c.16G>C (p.Ala6Pro)	LOC130068840, NAA10 (A6P)	Single nucleotide variant (missense variant)	Ogden syndrome	GPathogenic
Select item 1028123	NM_003491.4(NAA10):c.534C>A (p.Asn178Lys)	NAA10 (N172K +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
Select item 1028122	NM_003491.4(NAA10):c.472-2A>C	NAA10	Single nucleotide variant (splice acceptor variant)	Ogden syndrome	GPathogenic
Select item 985001	NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)	NAA10 (R134W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 983066	NM_003491.4(NAA10):c.430G>A (p.Ala144Thr)	NAA10 (A129T +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
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 929440	NM_003491.4(NAA10):c.303C>A (p.Asn101Lys)	NAA10 (N101K +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome +1 more	GConflicting classifications of pathogenicity
Select item 870098	NM_003491.4(NAA10):c.303C>G (p.Asn101Lys)	NAA10 (N101K +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
Select item 843535	NM_003491.4(NAA10):c.386A>C (p.Gln129Pro)	NAA10 (Q129P +1 more)	Single nucleotide variant (missense variant +1 more)	Ogden syndrome +1 more	GConflicting classifications of pathogenicity
Select item 804122	NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)	NAA10 (P39L)	Single nucleotide variant (missense variant)	Ogden syndrome	GLikely pathogenic
Select item 804121	NM_003491.4(NAA10):c.377T>G (p.Leu126Arg)	NAA10 (L126R +1 more)	Single nucleotide variant (missense variant +1 more)	Ogden syndrome	GLikely pathogenic
Select item 637034	NM_003491.4(NAA10):c.115C>A (p.Pro39Thr)	NAA10 (P39T)	Single nucleotide variant (missense variant)	Ogden syndrome	GLikely pathogenic
Select item 561061	NM_003491.4(NAA10):c.494_495del (p.Lys165fs)	NAA10 (K150fs +2 more)	Deletion (frameshift variant)	Ogden syndrome	GPathogenic
Select item 520542	NM_003491.4(NAA10):c.332T>G (p.Val111Gly)	NAA10 (V111G +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GPathogenic
Select item 488558	NM_003491.4(NAA10):c.259G>T (p.Ala87Ser)	NAA10 (A87S +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GLikely pathogenic
Select item 431708	NM_003491.4(NAA10):c.361C>G (p.Leu121Val)	NAA10 (L121V +1 more)	Single nucleotide variant (missense variant +1 more)	Ogden syndrome	GLikely pathogenic
Select item 391316	NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)	NAA10 (R79C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 375388	NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)	NAA10 (I72T +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome +1 more	GLikely pathogenic
Select item 280237	NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)	NAA10 (F128L +1 more)	Single nucleotide variant (missense variant +1 more)	Ogden syndrome +1 more	GPathogenic
Select item 236259	NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)	NAA10 (F128I +1 more)	Single nucleotide variant (missense variant +1 more)	Ogden syndrome +1 more	GPathogenic/Likely pathogenic
Select item 236258	NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)	NAA10 (F128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 218104	NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser)	NAA10 (Y43S)	Single nucleotide variant (missense variant)	Ogden syndrome	GPathogenic
Select item 208664	NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)	NAA10 (R83C +1 more)	Single nucleotide variant (missense variant)	NAA10-related disorder +5 more	GPathogenic
Select item 139644	NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	NAA10 (R116W +1 more)	Single nucleotide variant (missense variant +1 more)	NAA10-related condition +3 more	GPathogenic/Likely pathogenic
Select item 139643	NM_003491.4(NAA10):c.319G>T (p.Val107Phe)	NAA10 (V107F +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GPathogenic
Select item 29927	NM_003491.4(NAA10):c.109T>C (p.Ser37Pro)	NAA10 (S37P)	Single nucleotide variant (missense variant)	Ogden syndrome	GPathogenic

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Items: 34