"Clinical Genetics, Academic Medical Center"[submitter] AND "A2ML1"[ge - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384687	NM_144670.6(A2ML1):c.186C>T (p.Thr62=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 120253	NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly)	A2ML1, A2ML1-AS1 (R97G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 413819	NM_144670.6(A2ML1):c.463-9C>G	A2ML1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 120255	NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg)	A2ML1 (G207R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 120256	NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu)	A2ML1 (D287E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 413815	NM_144670.6(A2ML1):c.1101T>C (p.Asp367=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 120251	NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser)	A2ML1 (F370S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 384677	NM_144670.6(A2ML1):c.1275A>G (p.Val425=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 384672	NM_144670.6(A2ML1):c.1476+9G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 241886	NM_144670.6(A2ML1):c.1686T>G (p.Val562=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 241890	NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val)	A2ML1 (A751V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 383777	NM_144670.6(A2ML1):c.2367G>A (p.Pro789=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 413808	NM_144670.6(A2ML1):c.2749T>C (p.Leu917=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 384725	NM_144670.6(A2ML1):c.2868C>T (p.Ala956=)	A2ML1	Single nucleotide variant (synonymous variant)	Otitis media, susceptibility to +1 more	GBenign
Select item 241900	NM_144670.6(A2ML1):c.3252C>T (p.His1084=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related disorder +2 more	GBenign/Likely benign
Select item 241901	NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp)	A2ML1 (G1090D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 384669	NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)	A2ML1 (R1122W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 241904	NM_144670.6(A2ML1):c.3380C>T (p.Ser1127Leu)	A2ML1 (S1127L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 241905	NM_144670.6(A2ML1):c.3392C>T (p.Thr1131Met)	A2ML1 (T1131M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 384682	NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val)	A2ML1 (A1190V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1169146	NM_144670.6(A2ML1):c.3686A>G (p.His1229Arg)	A2ML1 (H1229R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 384670	NM_144670.6(A2ML1):c.3769A>G (p.Met1257Val)	A2ML1 (M1257V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 384726	NM_144670.6(A2ML1):c.3843T>C (p.Val1281=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 241908	NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile)	A2ML1 (V1294I +1 more)	Single nucleotide variant (missense variant)	A2ML1-related disorder +2 more	GBenign/Likely benign
Select item 384671	NM_144670.6(A2ML1):c.4020A>G (p.Gln1340=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 386368	NM_144670.6(A2ML1):c.4234A>G (p.Thr1412Ala)	A2ML1 (T1412A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 506375	NM_144670.6(A2ML1):c.4325-18A>T	A2ML1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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Items: 27