ClinVar for MedGen (Select 45253) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626345	NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val)	A2ML1 (A1164V +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626344	NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro)	A2ML1 (A991P +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626343	NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr)	A2ML1 (D849Y +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626342	NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu)	A2ML1 (P743L +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626341	NM_144670.6(A2ML1):c.2189G>A (p.Arg730His)	A2ML1 (R730H +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to +1 more	GUncertain significance
Select item 626340	NM_144670.6(A2ML1):c.1683G>C (p.Gln561His)	A2ML1 (Q561H +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 626339	NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile)	A2ML1, A2ML1-AS1 (T55I)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to +1 more	GUncertain significance
Select item 617559	NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg)	A2ML1 (G777R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 617558	NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro)	A2ML1 (L671P +1 more)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 617557	NM_144670.6(A2ML1):c.1308A>C (p.Gln436His)	A2ML1 (Q436H)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to	GUncertain significance
Select item 617556	NM_144670.6(A2ML1):c.971-8C>T	A2ML1	Single nucleotide variant (intron variant)	Otitis media, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 617555	NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter)	A2ML1, A2ML1-AS1 (Q4*)	Single nucleotide variant (nonsense)	Otitis media, susceptibility to	GLikely pathogenic
Select item 617554	NM_144670.6(A2ML1):c.4061+1G>C	A2ML1	Single nucleotide variant (splice donor variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 413822	NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs)	A2ML1 (A1226fs +1 more)	Deletion (frameshift variant)	not specified +1 more	GBenign
Select item 384690	NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)	A2ML1 (F733L +1 more)	Single nucleotide variant (missense variant)	A2ML1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 241896	NM_144670.6(A2ML1):c.2713-8C>A	A2ML1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity