ClinVar for MedGen (Select 1804308) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375345	NM_005499.3(UBA2):c.336dup (p.Met113fs)	UBA2 (M113fs +1 more)	Duplication (frameshift variant)	ACCES syndrome	GPathogenic
Select item 3370512	NM_005499.3(UBA2):c.319C>T (p.Arg107Ter)	UBA2 (R107* +1 more)	Single nucleotide variant (nonsense)	ACCES syndrome	GLikely pathogenic
Select item 3257742	NM_005499.3(UBA2):c.18del (p.Leu7fs)	LOC130064190, UBA2 (L7fs)	Deletion (5 prime UTR variant +1 more)	ACCES syndrome	GPathogenic
Select item 3254931	NM_005499.3(UBA2):c.472T>C (p.Cys158Arg)	UBA2 (C158R +1 more)	Single nucleotide variant (missense variant)	ACCES syndrome	GUncertain significance
Select item 3238810	NM_005499.3(UBA2):c.1834A>T (p.Arg612Trp)	UBA2 (R516W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3064270	NM_005499.3(UBA2):c.460-2A>G	UBA2	Single nucleotide variant (splice acceptor variant)	ACCES syndrome	GPathogenic
Select item 3024531	NM_005499.3(UBA2):c.649+1G>A	UBA2	Single nucleotide variant (splice donor variant)	ACCES syndrome	GPathogenic
Select item 2672153	NM_005499.3(UBA2):c.175A>G (p.Arg59Gly)	UBA2 (R59G)	Single nucleotide variant (5 prime UTR variant +1 more)	ACCES syndrome	GUncertain significance
Select item 2662966	NM_005499.3(UBA2):c.920T>C (p.Leu307Pro)	UBA2 (L211P +1 more)	Single nucleotide variant (missense variant)	ACCES syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1801368	NM_005499.3(UBA2):c.1118del (p.Arg373fs)	UBA2 (R373fs)	Deletion (frameshift variant)	ACCES syndrome	GPathogenic
Select item 1696429	NM_005499.3(UBA2):c.612del (p.Glu205fs)	UBA2 (E205fs)	Deletion (frameshift variant)	ACCES syndrome	GPathogenic
Select item 1696428	NM_005499.3(UBA2):c.327del (p.Phe109fs)	UBA2 (F109fs)	Deletion (frameshift variant)	ACCES syndrome	GPathogenic
Select item 1696427	NM_005499.3(UBA2):c.1324dup (p.Tyr442fs)	UBA2 (Y442fs)	Duplication (frameshift variant)	ACCES syndrome	GPathogenic
Select item 979178	NM_005499.3(UBA2):c.1447G>A (p.Glu483Lys)	UBA2 (E483K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 979175	NM_005499.3(UBA2):c.71G>T (p.Gly24Val)	LOC130064190, UBA2 (G24V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 978773	NM_005499.3(UBA2):c.364C>G (p.Arg122Gly)	UBA2 (R122G)	Single nucleotide variant (missense variant)	Ectrodactyly	GUncertain significance
Select item 654989	NM_005499.3(UBA2):c.364C>T (p.Arg122Ter)	UBA2 (R122*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 521193	NM_005499.3(UBA2):c.816_817del (p.Trp273fs)	UBA2 (W273fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic