C4310700[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 265750	NM_024818.6(UBA5):c.904C>T (p.Gln302Ter)	NPHP3-ACAD11, UBA5 (Q302* +3 more)	Single nucleotide variant (nonsense)	UBA5-related condition	GLikely pathogenic
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 265745	NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	NPHP3-ACAD11, UBA5 (A371T +3 more)	Single nucleotide variant (missense variant)	UBA5-Related Disorders +5 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
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