"GeneDx"[submitter] AND "A2ML1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561801	NM_144670.4(A2ML1):c.-433T>C	A2ML1, A2ML1-AS1	Single nucleotide variant	not provided	GBenign
Select item 1317920	NC_000012.12:g.8822235C>T	A2ML1, A2ML1-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 513335	NM_144670.5(A2ML1):c.-50C>G	A2ML1, A2ML1-AS1	Single nucleotide variant	not specified	GLikely benign
Select item 506741	NM_144670.5(A2ML1):c.-42T>A	A2ML1, A2ML1-AS1	Single nucleotide variant	not specified	GBenign
Select item 514943	NM_144670.6(A2ML1):c.-16T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 241912	NM_144670.6(A2ML1):c.9T>A (p.Ala3=)	A2ML1-AS1, A2ML1	Single nucleotide variant (synonymous variant)	Otitis media, susceptibility to +2 more	GBenign/Likely benign
Select item 561550	NM_144670.6(A2ML1):c.63-173A>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 695806	NM_144670.6(A2ML1):c.105C>T (p.Ser35=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 413807	NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg)	A2ML1, A2ML1-AS1 (T53R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 515640	NM_144670.6(A2ML1):c.159G>A (p.Thr53=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 372642	NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp)	A2ML1, A2ML1-AS1 (E57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 284739	NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)	A2ML1, A2ML1-AS1 (K59fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 224929	NM_144670.6(A2ML1):c.196C>T (p.Leu66=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 241887	NM_144670.6(A2ML1):c.200A>T (p.Glu67Val)	A2ML1, A2ML1-AS1 (E67V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 561671	NM_144670.6(A2ML1):c.246+139A>G	A2ML1-AS1, A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317396	NM_144670.6(A2ML1):c.246+149A>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 120253	NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly)	A2ML1, A2ML1-AS1 (R97G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 561804	NM_144670.6(A2ML1):c.409+286A>G	A2ML1-AS1, A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561805	NM_144670.6(A2ML1):c.409+302T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317447	NM_144670.6(A2ML1):c.410-52_410-51dup	A2ML1, A2ML1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1259076	NM_144670.6(A2ML1):c.410-51dup	A2ML1, A2ML1-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1317618	NM_144670.6(A2ML1):c.410-52_410-51del	A2ML1, A2ML1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1296522	NM_144670.6(A2ML1):c.410-51del	A2ML1, A2ML1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1228010	NM_144670.6(A2ML1):c.410-54_410-51del	A2ML1, A2ML1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 561948	NM_144670.6(A2ML1):c.462+2T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 1318037	NM_144670.6(A2ML1):c.462+29G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291261	NM_144670.6(A2ML1):c.462+130C>T	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318236	NM_144670.6(A2ML1):c.462+131G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317511	NM_144670.6(A2ML1):c.462+139G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318317	NM_144670.6(A2ML1):c.462+190G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561670	NM_144670.6(A2ML1):c.462+202A>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 413819	NM_144670.6(A2ML1):c.463-9C>G	A2ML1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 241910	NM_144670.6(A2ML1):c.483+7G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178074	NM_144670.6(A2ML1):c.483+139A>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561806	NM_144670.6(A2ML1):c.483+272T>C	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561572	NM_144670.6(A2ML1):c.484-181T>C	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561573	NM_144670.6(A2ML1):c.484-179A>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250847	NM_144670.6(A2ML1):c.484-32C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 241911	NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile)	A2ML1 (T197I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 224925	NM_144670.6(A2ML1):c.621T>C (p.Gly207=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 561776	NM_144670.6(A2ML1):c.630T>G (p.Ser210Arg)	A2ML1 (S210R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413813	NM_144670.6(A2ML1):c.633G>A (p.Val211=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 561551	NM_144670.6(A2ML1):c.643+141A>C	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317844	NM_144670.6(A2ML1):c.643+189T>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280499	NM_144670.6(A2ML1):c.643+208G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561807	NM_144670.6(A2ML1):c.643+280C>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316452	NM_144670.6(A2ML1):c.644-286C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273957	NM_144670.6(A2ML1):c.644-243C>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237886	NM_144670.6(A2ML1):c.644-221dup	A2ML1	Duplication (intron variant)	not provided	GBenign
Select item 1316255	NM_144670.6(A2ML1):c.644-222_644-221del	A2ML1	Deletion (intron variant)	not provided	GLikely benign
Select item 1232829	NM_144670.6(A2ML1):c.644-221del	A2ML1	Deletion (intron variant)	not provided	GBenign
Select item 561574	NM_144670.6(A2ML1):c.644-206G>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247117	NM_144670.6(A2ML1):c.644-187A>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561539	NM_144670.6(A2ML1):c.644-74A>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561682	NM_144670.6(A2ML1):c.650C>T (p.Pro217Leu)	A2ML1 (P217L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1317760	NM_144670.6(A2ML1):c.692C>T (p.Thr231Met)	A2ML1 (T231M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1284067	NM_144670.6(A2ML1):c.728+161dup	A2ML1	Duplication (intron variant)	not provided	GBenign
Select item 1231791	NM_144670.6(A2ML1):c.728+161del	A2ML1	Deletion (intron variant)	not provided	GBenign
Select item 1316417	NM_144670.6(A2ML1):c.728+206G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561552	NM_144670.6(A2ML1):c.729-120A>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280274	NM_144670.6(A2ML1):c.787A>C (p.Asn263His)	A2ML1 (N263H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561710	NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)	A2ML1 (R272W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 970215	NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg)	A2ML1 (P276R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 700149	NM_144670.6(A2ML1):c.855+9A>G	A2ML1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1316418	NM_144670.6(A2ML1):c.855+34G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276717	NM_144670.6(A2ML1):c.855+65C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317676	NM_144670.6(A2ML1):c.855+212G>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225391	NM_144670.6(A2ML1):c.855+237C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296525	NM_144670.6(A2ML1):c.855+239G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316604	NM_144670.6(A2ML1):c.855+343del	A2ML1	Deletion (intron variant)	not provided	GLikely benign
Select item 1181893	NM_144670.6(A2ML1):c.855+342_855+343del	A2ML1	Deletion (intron variant)	not provided	GBenign
Select item 561533	NM_144670.6(A2ML1):c.856-119A>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 697935	NM_144670.6(A2ML1):c.861C>T (p.Asp287=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 120256	NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu)	A2ML1 (D287E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 413809	NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg)	A2ML1 (K288R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 217314	NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)	A2ML1 (V296A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 561553	NM_144670.6(A2ML1):c.970+200C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180258	NM_144670.6(A2ML1):c.970+245G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316850	NM_144670.6(A2ML1):c.970+318C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561808	NM_144670.6(A2ML1):c.971-282C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320571	NM_144670.6(A2ML1):c.971-211G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1331192	NM_144670.6(A2ML1):c.971-177dup	A2ML1	Duplication (intron variant)	not provided	GBenign
Select item 1245555	NM_144670.6(A2ML1):c.971-177del	A2ML1	Deletion (intron variant)	not provided	GBenign
Select item 1249032	NM_144670.6(A2ML1):c.971-179A>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 152932	GRCh38/hg38 12p13.31(chr12:8839030-9134304)x3	A2M, A2M-AS1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 390434	NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter)	A2ML1 (E326*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 390945	NM_144670.6(A2ML1):c.1050T>C (p.Phe350=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1055931	NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser)	A2ML1 (P356S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1320561	NM_144670.6(A2ML1):c.1080+143A>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561534	NM_144670.6(A2ML1):c.1080+152G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561535	NM_144670.6(A2ML1):c.1080+180C>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561809	NM_144670.6(A2ML1):c.1080+304_1080+305insT	A2ML1	Insertion (intron variant)	not provided	GBenign
Select item 561810	NM_144670.6(A2ML1):c.1080+318_1080+320del	A2ML1	Microsatellite (intron variant)	not provided	GBenign
Select item 413815	NM_144670.6(A2ML1):c.1101T>C (p.Asp367=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 120251	NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser)	A2ML1 (F370S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 511218	NM_144670.6(A2ML1):c.1236C>T (p.Asp412=)	A2ML1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 406202	NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile)	A2ML1 (V413I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1316236	NM_144670.6(A2ML1):c.1248+29A>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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