ClinVar for MedGen (Select 934667) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234903	NM_024818.6(UBA5):c.297+2T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 44	GLikely pathogenic
Select item 3024304	NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)	NPHP3-ACAD11, UBA5 (C125Y +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44 +1 more	GLikely pathogenic
Select item 2573082	NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)	UBA5, NPHP3-ACAD11 (I41T +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44	GUncertain significance
Select item 2500792	NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)	NPHP3-ACAD11, UBA5 (R38G +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44	GLikely pathogenic
Select item 1686287	NM_024818.6(UBA5):c.36_37del (p.Gln13fs)	NPHP3-ACAD11, UBA5 (Q13fs)	Deletion (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 1686286	NM_024818.6(UBA5):c.1A>G (p.Met1Val)	NPHP3-ACAD11, UBA5 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 1684231	NM_024818.6(UBA5):c.1024+32T>C	NPHP3-ACAD11, UBA5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 44 +1 more	GBenign
Select item 1251993	NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr)	NPHP3-ACAD11, UBA5 (D11Y +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44	GLikely pathogenic
Select item 1048516	NM_024818.6(UBA5):c.761T>C (p.Leu254Pro)	NPHP3-ACAD11, UBA5 (L142P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 1030879	NM_032169.5(ACAD11):c.37G>T (p.Glu13Ter)	ACAD11, NPHP3-ACAD11 +1 more (E13*)	Single nucleotide variant (5 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 982589	NM_024818.6(UBA5):c.460G>A (p.Val154Met)	NPHP3-ACAD11, UBA5 (V154M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44 +1 more	GUncertain significance
Select item 973257	NM_024818.6(UBA5):c.160dup (p.Ser54fs)	LOC129937585, NPHP3-ACAD11 +1 more (S54fs)	Duplication (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 809545	NM_024818.6(UBA5):c.215G>A (p.Arg72His)	NPHP3-ACAD11, UBA5 (R16H +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 44 +1 more	GConflicting classifications of pathogenicity
Select item 522846	NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)	NPHP3-ACAD11, UBA5 (C303R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44	GConflicting classifications of pathogenicity
Select item 489201	NM_024818.6(UBA5):c.684G>A (p.Ala228=)	NPHP3-ACAD11, UBA5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 44 +1 more	GLikely pathogenic
Select item 488630	NM_024818.6(UBA5):c.910G>A (p.Asp304Asn)	NPHP3-ACAD11, UBA5 (D304N +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44 +1 more	GConflicting classifications of pathogenicity
Select item 265755	NM_024818.6(UBA5):c.169A>G (p.Met57Val)	NPHP3-ACAD11, UBA5 (M57V +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 44 +1 more	GConflicting classifications of pathogenicity
Select item 265754	NM_024818.6(UBA5):c.503G>A (p.Gly168Glu)	NPHP3-ACAD11, UBA5 (G168E +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 265753	NM_024818.6(UBA5):c.1165G>T (p.Asp389Tyr)	NPHP3-ACAD11, UBA5 (D389Y +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 265752	NM_024818.6(UBA5):c.778G>A (p.Val260Met)	NPHP3-ACAD11, UBA5 (V260M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 265751	NM_024818.6(UBA5):c.971_972insC (p.Lys324fs)	NPHP3-ACAD11, UBA5 (K212fs +3 more)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 265750	NM_024818.6(UBA5):c.904C>T (p.Gln302Ter)	NPHP3-ACAD11, UBA5 (Q302* +3 more)	Single nucleotide variant (nonsense)	UBA5-related disorder	GLikely pathogenic
Select item 265749	NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)	NPHP3-ACAD11, UBA5 (R188* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 265748	NM_024818.6(UBA5):c.181C>T (p.Arg61Ter)	UBA5, NPHP3-ACAD11 (R61* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 265747	NM_024818.6(UBA5):c.855C>A (p.Tyr285Ter)	UBA5, NPHP3-ACAD11 (Y285* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 265746	NM_024818.6(UBA5):c.164G>A (p.Arg55His)	NPHP3-ACAD11, UBA5 (R55H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 265745	NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	NPHP3-ACAD11, UBA5 (A371T +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance

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Items: 27