Related gene-specific medical variations for Gene (Select 144568) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296214	NM_144670.6(A2ML1):c.410T>C (p.Val137Ala)	A2ML1, A2ML1-AS1 (V137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244440	NC_000012.11:g.(?_8975248)_(9027607_?)dup	A2ML1	Duplication	not provided	GUncertain significance
Select item 3244439	NC_000012.11:g.(?_9009740)_(9013913_?)del	A2ML1	Deletion	not provided	GUncertain significance
Select item 3244438	NC_000012.11:g.(?_8982303)_(8982395_?)del	A2ML1	Deletion	not provided	GUncertain significance
Select item 3229213	NM_144670.6(A2ML1):c.420C>T (p.Arg140=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3229211	NM_144670.6(A2ML1):c.400G>A (p.Gly134Arg)	A2ML1, A2ML1-AS1 (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229202	NM_144670.6(A2ML1):c.337G>T (p.Val113Phe)	A2ML1, A2ML1-AS1 (V113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229200	NM_144670.6(A2ML1):c.332A>G (p.Lys111Arg)	A2ML1, A2ML1-AS1 (K111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3229192	NM_144670.6(A2ML1):c.233G>T (p.Cys78Phe)	A2ML1, A2ML1-AS1 (C78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3004296	NM_144670.6(A2ML1):c.462+17A>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974710	NM_144670.6(A2ML1):c.223C>A (p.His75Asn)	A2ML1, A2ML1-AS1 (H75N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965507	NM_144670.6(A2ML1):c.62+9T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905191	NM_144670.6(A2ML1):c.143G>C (p.Ser48Thr)	A2ML1, A2ML1-AS1 (S48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887133	NM_144670.6(A2ML1):c.279G>A (p.Val93=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825909	NM_144670.6(A2ML1):c.126C>T (p.Asp42=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2782830	NM_144670.6(A2ML1):c.218A>G (p.Lys73Arg)	A2ML1, A2ML1-AS1 (K73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747531	NM_144670.6(A2ML1):c.247-6G>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741316	NM_144670.6(A2ML1):c.410-15C>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716857	NM_144670.6(A2ML1):c.296C>T (p.Ser99Leu)	A2ML1, A2ML1-AS1 (S99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714190	NM_144670.6(A2ML1):c.462+19_462+21del	A2ML1, A2ML1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2690788	NM_144670.6(A2ML1):c.2630_2633del (p.Ser877fs)	A2ML1 (S386fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2690787	NM_144670.6(A2ML1):c.1949C>G (p.Pro650Arg)	A2ML1 (P159R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690786	NM_144670.6(A2ML1):c.1476+1G>T	A2ML1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2690785	NM_144670.6(A2ML1):c.313A>G (p.Ile105Val)	A2ML1, A2ML1-AS1 (I105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690784	NM_144670.6(A2ML1):c.3074C>T (p.Ala1025Val)	A2ML1 (A1025V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690783	NM_144670.6(A2ML1):c.1481T>C (p.Ile494Thr)	A2ML1 (I3T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690782	NM_144670.6(A2ML1):c.792_793del (p.Tyr265fs)	A2ML1 (Y265fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2564141	NM_144670.6(A2ML1):c.127C>G (p.Leu43Val)	A2ML1, A2ML1-AS1 (L43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506102	NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)	A2ML1, A2ML1-AS1 (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501288	NM_144670.6(A2ML1):c.409+13T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2449344	NM_144670.6(A2ML1):c.133C>T (p.Pro45Ser)	A2ML1, A2ML1-AS1 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449327	NM_144670.6(A2ML1):c.376A>G (p.Thr126Ala)	A2ML1, A2ML1-AS1 (T126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449325	NM_144670.6(A2ML1):c.159G>T (p.Thr53=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449320	NM_144670.6(A2ML1):c.55G>A (p.Glu19Lys)	A2ML1, A2ML1-AS1 (E19K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2415364	NM_144670.6(A2ML1):c.411del (p.Tyr138fs)	A2ML1, A2ML1-AS1 (Y138fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2234565	NM_144670.6(A2ML1):c.148G>T (p.Val50Phe)	A2ML1, A2ML1-AS1 (V50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2173272	NM_144670.6(A2ML1):c.462+1G>T	A2ML1-AS1, A2ML1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2172987	NM_144670.6(A2ML1):c.225C>T (p.His75=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166052	NM_144670.6(A2ML1):c.272AAG[1] (p.Glu92del)	A2ML1, A2ML1-AS1 (E92del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2146094	NM_144670.6(A2ML1):c.129G>C (p.Leu43=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144109	NM_144670.6(A2ML1):c.393C>T (p.Tyr131=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2127897	NM_144670.6(A2ML1):c.247-3C>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2120402	NM_144670.6(A2ML1):c.69C>G (p.Tyr23Ter)	A2ML1, A2ML1-AS1 (Y23*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2106497	NM_144670.6(A2ML1):c.97T>C (p.Phe33Leu)	A2ML1, A2ML1-AS1 (F33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100645	NM_144670.6(A2ML1):c.74T>C (p.Val25Ala)	A2ML1, A2ML1-AS1 (V25A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081802	NM_144670.6(A2ML1):c.36A>G (p.Leu12=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081446	NM_144670.6(A2ML1):c.68dup (p.Tyr23Ter)	A2ML1, A2ML1-AS1 (Y23*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2079830	NM_144670.6(A2ML1):c.97T>G (p.Phe33Val)	A2ML1, A2ML1-AS1 (F33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073821	NM_144670.6(A2ML1):c.431T>C (p.Met144Thr)	A2ML1, A2ML1-AS1 (M144T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2057951	NM_144670.6(A2ML1):c.61C>A (p.Pro21Thr)	A2ML1, A2ML1-AS1 (P21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055894	NM_144670.6(A2ML1):c.340C>G (p.Leu114Val)	A2ML1, A2ML1-AS1 (L114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055109	NM_144670.6(A2ML1):c.62+1G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2045700	NM_144670.6(A2ML1):c.250C>G (p.Pro84Ala)	A2ML1, A2ML1-AS1 (P84A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043310	NM_144670.6(A2ML1):c.88C>T (p.Arg30Trp)	A2ML1, A2ML1-AS1 (R30W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2042917	NM_144670.6(A2ML1):c.52GAA[1] (p.Glu19del)	A2ML1-AS1, A2ML1 (E19del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2028316	NM_144670.6(A2ML1):c.246+5G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1930187	NM_144670.6(A2ML1):c.169G>A (p.Glu57Lys)	A2ML1, A2ML1-AS1 (E57K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804856	NM_144670.6(A2ML1):c.462+16G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1797566	NM_144670.6(A2ML1):c.290G>A (p.Arg97Gln)	A2ML1, A2ML1-AS1 (R97Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1796145	NM_144670.6(A2ML1):c.279G>T (p.Val93=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1794915	NM_144670.6(A2ML1):c.26T>C (p.Met9Thr)	A2ML1, A2ML1-AS1 (M9T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1794644	NM_144670.6(A2ML1):c.110A>G (p.Gln37Arg)	A2ML1, A2ML1-AS1 (Q37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793352	NM_144670.6(A2ML1):c.257C>T (p.Pro86Leu)	A2ML1, A2ML1-AS1 (P86L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1792510	NM_144670.6(A2ML1):c.251C>T (p.Pro84Leu)	A2ML1, A2ML1-AS1 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756561	NM_144670.6(A2ML1):c.69C>T (p.Tyr23=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1736091	NM_144670.6(A2ML1):c.390C>G (p.Leu130=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1733482	NM_144670.6(A2ML1):c.363C>T (p.Gly121=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1733198	NM_144670.6(A2ML1):c.360C>T (p.Asn120=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1704622	NM_144670.6(A2ML1):c.462+19A>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1696020	NM_144670.6(A2ML1):c.409+1G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 1673231	NM_144670.6(A2ML1):c.247-12T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652481	NM_144670.6(A2ML1):c.342A>C (p.Leu114=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625259	NM_144670.6(A2ML1):c.288C>A (p.Ile96=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1614910	NM_144670.6(A2ML1):c.127C>T (p.Leu43=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1595153	NM_144670.6(A2ML1):c.63-14T>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569499	NM_144670.6(A2ML1):c.240C>T (p.Ser80=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568915	NM_144670.6(A2ML1):c.201A>G (p.Glu67=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1543073	NM_144670.6(A2ML1):c.84A>T (p.Pro28=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542948	NM_144670.6(A2ML1):c.231T>C (p.His77=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495940	NM_144670.6(A2ML1):c.112_114del (p.Lys38del)	A2ML1, A2ML1-AS1 (K38del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1472211	NM_144670.6(A2ML1):c.409+12A>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1462146	NM_144670.6(A2ML1):c.292_294del (p.Val98del)	A2ML1, A2ML1-AS1 (V98del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1449391	NM_144670.6(A2ML1):c.374A>G (p.Gln125Arg)	A2ML1, A2ML1-AS1 (Q125R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439180	NM_144670.6(A2ML1):c.407A>G (p.Gln136Arg)	A2ML1, A2ML1-AS1 (Q136R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1434881	NM_144670.6(A2ML1):c.335A>G (p.Lys112Arg)	A2ML1, A2ML1-AS1 (K112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412250	NM_144670.6(A2ML1):c.70C>G (p.Leu24Val)	A2ML1, A2ML1-AS1 (L24V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1397370	NM_144670.6(A2ML1):c.158C>T (p.Thr53Met)	A2ML1, A2ML1-AS1 (T53M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389581	NM_144670.6(A2ML1):c.73G>A (p.Val25Met)	A2ML1, A2ML1-AS1 (V25M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1381882	NM_144670.6(A2ML1):c.137G>T (p.Gly46Val)	A2ML1, A2ML1-AS1 (G46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1318236	NM_144670.6(A2ML1):c.462+131G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1317618	NM_144670.6(A2ML1):c.410-52_410-51del	A2ML1, A2ML1-AS1	Deletion (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 1317447	NM_144670.6(A2ML1):c.410-52_410-51dup	A2ML1, A2ML1-AS1	Duplication (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 1301380	NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter)	A2ML1, A2ML1-AS1 (L10*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1297720	NM_144670.6(A2ML1):c.21A>G (p.Leu7=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign/Likely benign
Select item 1296522	NM_144670.6(A2ML1):c.410-51del	A2ML1, A2ML1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1291261	NM_144670.6(A2ML1):c.462+130C>T	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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