"Department of Molecular and Human Genetics, Baylor College of Medicin - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217307	NM_144670.6(A2ML1):c.763C>T (p.Gln255Ter)	A2ML1 (Q255*)	Single nucleotide variant (nonsense)	Nonsyndromic otitis media	GUncertain significance
Select item 217314	NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)	A2ML1 (V296A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 217308	NM_144670.6(A2ML1):c.1067C>G (p.Pro356Arg)	A2ML1 (P356R)	Single nucleotide variant (missense variant)	Nonsyndromic otitis media	GUncertain significance
Select item 217309	NM_144670.6(A2ML1):c.2428G>A (p.Ala810Thr)	A2ML1 (A810T +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic otitis media	GUncertain significance
Select item 217306	NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs)	A2ML1 (S829fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 217310	NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)	A2ML1 (R893* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217311	NM_144670.6(A2ML1):c.2914G>T (p.Glu972Ter)	A2ML1 (E972* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic otitis media	GUncertain significance
Select item 217312	NM_144670.6(A2ML1):c.3001C>T (p.Arg1001Trp)	A2ML1 (R1001W +1 more)	Single nucleotide variant (missense variant)	A2ML1-related condition	GUncertain significance
Select item 217313	NM_144670.6(A2ML1):c.4292C>T (p.Ala1431Val)	A2ML1 (A1431V +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic otitis media	GUncertain significance