C0271742[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5040	NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)	AAAS (R478* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +2 more	GPathogenic
Select item 264994	NM_015665.6(AAAS):c.1331+1G>A	AAAS	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 5039	NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)	AAAS (R312* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323506	NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)	AAAS (K268* +1 more)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 2690789	NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)	AAAS (S267I +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 1323528	NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)	AAAS (W251* +1 more)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 1323792	NM_015665.6(AAAS):c.781_782del (p.Ala262fs)	AAAS (A229fs +1 more)	Microsatellite (frameshift variant)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 1027994	NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)	AAAS (R258W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1323789	NM_015665.6(AAAS):c.762del (p.Ser255fs)	AAAS (S222fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5044	NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	AAAS (Q15K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic