"Athena Diagnostics"[submitter] AND "SNHG14"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96262	NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 418562	NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)	SNHG14, UBE3A (T787A +8 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance FDA Recognized database
Select item 96260	NM_130839.5(UBE3A):c.2124+9T>C	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome	GBenign FDA Recognized database
Select item 137886	NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 437190	NM_130839.5(UBE3A):c.1754-4A>G	SNHG14, UBE3A	Single nucleotide variant (intron variant)	Angelman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 96256	NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GBenign FDA Recognized database
Select item 137884	NM_130839.5(UBE3A):c.1185A>G (p.Glu395=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome +3 more	GBenign
Select item 156678	NM_130839.5(UBE3A):c.901A>G (p.Met301Val)	SNHG14, UBE3A (M281V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 500854	NM_130839.5(UBE3A):c.582A>G (p.Ala194=)	SNHG14, UBE3A	Single nucleotide variant (synonymous variant +2 more)	Angelman syndrome	GLikely benign FDA Recognized database