ClinVar for Gene (Select 80816) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371700	NM_030632.3(ASXL3):c.6722G>A (p.Cys2241Tyr)	ASXL3 (C2241Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371679	NM_030632.3(ASXL3):c.3424T>A (p.Leu1142Ile)	ASXL3 (L1142I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371150	NM_030632.3(ASXL3):c.3007C>A (p.Pro1003Thr)	ASXL3 (P1003T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369795	NM_030632.3(ASXL3):c.1339G>A (p.Glu447Lys)	ASXL3 (E447K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369612	NM_030632.3(ASXL3):c.1366dup (p.Glu456fs)	ASXL3 (E456fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3369115	NM_030632.3(ASXL3):c.3007C>T (p.Pro1003Ser)	ASXL3 (P1003S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368215	NM_030632.3(ASXL3):c.6197G>T (p.Arg2066Ile)	ASXL3 (R2066I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367917	NM_030632.3(ASXL3):c.4609T>A (p.Ser1537Thr)	ASXL3 (S1537T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367601	NM_030632.3(ASXL3):c.3170T>C (p.Ile1057Thr)	ASXL3 (I1057T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367573	NM_030632.3(ASXL3):c.2488A>G (p.Asn830Asp)	ASXL3 (N830D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365842	NM_030632.3(ASXL3):c.6315G>C (p.Gln2105His)	ASXL3 (Q2105H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365650	NM_030632.3(ASXL3):c.35G>C (p.Trp12Ser)	ASXL3 (W12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364561	NM_030632.3(ASXL3):c.539del (p.Pro180fs)	ASXL3 (P180fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3364262	NM_030632.3(ASXL3):c.4915C>G (p.Pro1639Ala)	ASXL3 (P1639A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363324	NM_030632.3(ASXL3):c.3155G>C (p.Arg1052Thr)	ASXL3 (R1052T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361797	NM_030632.3(ASXL3):c.2573C>G (p.Thr858Ser)	ASXL3 (T858S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361712	NM_030632.3(ASXL3):c.4610C>A (p.Ser1537Tyr)	ASXL3 (S1537Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361421	NM_030632.3(ASXL3):c.1980C>G (p.Asp660Glu)	ASXL3 (D660E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361398	NM_030632.3(ASXL3):c.2310G>C (p.Lys770Asn)	ASXL3 (K770N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361368	NM_030632.3(ASXL3):c.1597G>C (p.Val533Leu)	ASXL3 (V533L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361339	NM_030632.3(ASXL3):c.6373T>C (p.Tyr2125His)	ASXL3 (Y2125H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361137	NM_030632.3(ASXL3):c.5563A>G (p.Lys1855Glu)	ASXL3 (K1855E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360446	NM_030632.3(ASXL3):c.2339C>A (p.Ser780Tyr)	ASXL3 (S780Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359668	NM_030632.3(ASXL3):c.100T>A (p.Leu34Met)	ASXL3 (L34M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358968	NM_030632.3(ASXL3):c.4365_4389del (p.Pro1456_Pro1457insTer)	ASXL3	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 3358304	NM_030632.3(ASXL3):c.1706C>A (p.Thr569Asn)	ASXL3 (T569N)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GLikely benign
Select item 3357728	NM_030632.3(ASXL3):c.4266A>G (p.Thr1422=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 3356118	NM_030632.3(ASXL3):c.356-8G>C	ASXL3	Single nucleotide variant (intron variant)	ASXL3-related disorder	GLikely benign
Select item 3350097	NM_030632.3(ASXL3):c.6221G>C (p.Gly2074Ala)	ASXL3 (G2074A)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 3350052	NM_030632.3(ASXL3):c.976+5A>G	ASXL3	Single nucleotide variant (intron variant)	ASXL3-related disorder	GLikely benign
Select item 3347840	NM_030632.3(ASXL3):c.5608C>T (p.His1870Tyr)	ASXL3 (H1870Y)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 3347416	NM_030632.3(ASXL3):c.6131C>T (p.Pro2044Leu)	ASXL3 (P2044L)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 3344196	NM_030632.3(ASXL3):c.1626dup (p.Leu543fs)	ASXL3 (L543fs)	Duplication (frameshift variant)	ASXL3-related disorder	GLikely pathogenic
Select item 3343672	NM_030632.3(ASXL3):c.6137C>G (p.Pro2046Arg)	ASXL3 (P2046R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343279	NM_030632.3(ASXL3):c.5234C>T (p.Ala1745Val)	ASXL3 (A1745V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342603	NM_030632.3(ASXL3):c.4871_4874del (p.His1624fs)	ASXL3 (H1624fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3342602	NM_030632.3(ASXL3):c.964C>T (p.Arg322Ter)	ASXL3 (R322*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3341888	NM_030632.3(ASXL3):c.169A>G (p.Met57Val)	ASXL3 (M57V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341882	NM_030632.3(ASXL3):c.6062C>T (p.Pro2021Leu)	ASXL3 (P2021L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3340861	NM_030632.3(ASXL3):c.5141G>T (p.Ser1714Ile)	ASXL3 (S1714I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340386	NM_030632.3(ASXL3):c.3178dup (p.Arg1060fs)	ASXL3 (R1060fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3340377	NM_030632.3(ASXL3):c.542G>A (p.Arg181His)	ASXL3 (R181H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338587	NM_030632.3(ASXL3):c.1558G>A (p.Glu520Lys)	ASXL3 (E520K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336622	NM_030632.3(ASXL3):c.2099T>G (p.Leu700Ter)	ASXL3 (L700*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 3319583	NM_030632.3(ASXL3):c.2033C>T (p.Ser678Leu)	ASXL3 (S678L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319574	NM_030632.3(ASXL3):c.4258A>G (p.Met1420Val)	ASXL3 (M1420V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319564	NM_030632.3(ASXL3):c.1468C>T (p.Pro490Ser)	ASXL3 (P490S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319553	NM_030632.3(ASXL3):c.3541G>C (p.Val1181Leu)	ASXL3 (V1181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319546	NM_030632.3(ASXL3):c.3119G>A (p.Ser1040Asn)	ASXL3 (S1040N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319536	NM_030632.3(ASXL3):c.4667G>C (p.Cys1556Ser)	ASXL3 (C1556S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319526	NM_030632.3(ASXL3):c.1931C>G (p.Ser644Cys)	ASXL3 (S644C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319516	NM_030632.3(ASXL3):c.3116C>T (p.Thr1039Ile)	ASXL3 (T1039I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319505	NM_030632.3(ASXL3):c.1996A>G (p.Asn666Asp)	ASXL3 (N666D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319474	NM_030632.3(ASXL3):c.2962A>G (p.Thr988Ala)	ASXL3 (T988A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257392	NM_030632.3(ASXL3):c.1043C>T (p.Pro348Leu)	ASXL3 (P348L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257197	NM_030632.3(ASXL3):c.6218C>T (p.Thr2073Met)	ASXL3 (T2073M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3257124	NM_030632.3(ASXL3):c.3462T>C (p.Gly1154=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256775	NM_030632.3(ASXL3):c.1102G>T (p.Glu368Ter)	ASXL3 (E368*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3255197	NM_030632.3(ASXL3):c.4958C>G (p.Ser1653Ter)	ASXL3 (S1653*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 3255111	NM_030632.3(ASXL3):c.1526T>G (p.Leu509Ter)	ASXL3 (L509*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 3253186	NM_030632.3(ASXL3):c.6512_6517del (p.Ile2171_Glu2172del)	ASXL3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3252600	NM_030632.3(ASXL3):c.911C>A (p.Thr304Asn)	ASXL3 (T304N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251799	NM_030632.3(ASXL3):c.6094C>T (p.Pro2032Ser)	ASXL3 (P2032S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3250946	NM_030632.3(ASXL3):c.5920G>A (p.Glu1974Lys)	ASXL3 (E1974K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3250791	NM_030632.3(ASXL3):c.666T>C (p.Thr222=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250762	NM_030632.3(ASXL3):c.4842G>A (p.Met1614Ile)	ASXL3 (M1614I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250502	NM_030632.3(ASXL3):c.6536G>A (p.Gly2179Glu)	ASXL3 (G2179E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239377	NM_030632.3(ASXL3):c.3834T>C (p.Asn1278=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239272	NM_030632.3(ASXL3):c.3384G>A (p.Arg1128=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235810	NM_030632.3(ASXL3):c.1552_1555del (p.Val517_Lys518insTer)	ASXL3	Deletion (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3234674	NM_030632.3(ASXL3):c.2557C>G (p.Pro853Ala)	ASXL3 (P853A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234568	NM_030632.3(ASXL3):c.3293C>T (p.Thr1098Ile)	ASXL3 (T1098I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233629	NM_030632.3(ASXL3):c.67C>T (p.His23Tyr)	ASXL3 (H23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130630	NM_030632.3(ASXL3):c.803A>G (p.Asn268Ser)	ASXL3 (N268S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130629	NM_030632.3(ASXL3):c.6266G>A (p.Gly2089Asp)	ASXL3 (G2089D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130627	NM_030632.3(ASXL3):c.5015T>C (p.Leu1672Pro)	ASXL3 (L1672P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130625	NM_030632.3(ASXL3):c.4715C>T (p.Pro1572Leu)	ASXL3 (P1572L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130624	NM_030632.3(ASXL3):c.4679G>A (p.Arg1560Gln)	ASXL3 (R1560Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130623	NM_030632.3(ASXL3):c.4544C>T (p.Ala1515Val)	ASXL3 (A1515V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130622	NM_030632.3(ASXL3):c.4456T>C (p.Ser1486Pro)	ASXL3 (S1486P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130621	NM_030632.3(ASXL3):c.4366C>G (p.Pro1456Ala)	ASXL3 (P1456A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130620	NM_030632.3(ASXL3):c.4286C>T (p.Pro1429Leu)	ASXL3 (P1429L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130619	NM_030632.3(ASXL3):c.4205C>T (p.Ala1402Val)	ASXL3 (A1402V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130618	NM_030632.3(ASXL3):c.4087A>G (p.Met1363Val)	ASXL3 (M1363V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130617	NM_030632.3(ASXL3):c.3962A>T (p.Lys1321Met)	ASXL3 (K1321M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130616	NM_030632.3(ASXL3):c.3653C>T (p.Ser1218Leu)	ASXL3 (S1218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130615	NM_030632.3(ASXL3):c.2899G>T (p.Ala967Ser)	ASXL3 (A967S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130614	NM_030632.3(ASXL3):c.2535G>C (p.Glu845Asp)	ASXL3 (E845D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130613	NM_030632.3(ASXL3):c.2431A>G (p.Ile811Val)	ASXL3 (I811V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130611	NM_030632.3(ASXL3):c.2351A>C (p.Asp784Ala)	ASXL3 (D784A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130610	NM_030632.3(ASXL3):c.2312C>T (p.Ser771Leu)	ASXL3 (S771L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075960	NM_030632.3(ASXL3):c.3457G>T (p.Glu1153Ter)	ASXL3 (E1153*)	Single nucleotide variant (nonsense)	Rare syndromic intellectual disability	GLikely pathogenic
Select item 3075714	NM_030632.3(ASXL3):c.2902G>T (p.Glu968Ter)	ASXL3 (E968*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3066157	NM_030632.3(ASXL3):c.1744C>T (p.Gln582Ter)	ASXL3 (Q582*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3065510	NM_030632.3(ASXL3):c.4724C>G (p.Pro1575Arg)	ASXL3 (P1575R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 3065054	NM_030632.3(ASXL3):c.1609_1612dup (p.Glu538fs)	ASXL3 (E538fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 3064980	NM_030632.3(ASXL3):c.1606_1607del (p.Gln536fs)	ASXL3 (Q536fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 3064375	NM_030632.3(ASXL3):c.2047_2048insATAA (p.Ile683fs)	ASXL3 (I683fs)	Insertion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3061746	NM_030632.3(ASXL3):c.3039+66_3997delinsAGAAGCCTAGGTGTAC	ASXL3	Indel (splice acceptor variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 3061681	NM_030632.3(ASXL3):c.6250C>A (p.Leu2084Ile)	ASXL3 (L2084I)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance

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