ClinVar for MedGen (Select 1656239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376311	NM_030632.3(ASXL3):c.4931C>T (p.Thr1644Ile)	ASXL3 (T1644I)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	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 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 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 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 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 3024543	NM_030632.3(ASXL3):c.1220_1226dup (p.Ser410fs)	ASXL3 (S410fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3024523	NM_030632.3(ASXL3):c.2127del (p.Leu710fs)	ASXL3 (L710fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 3024311	NM_030632.3(ASXL3):c.1498G>T (p.Glu500Ter)	ASXL3 (E500*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 3024270	NM_030632.3(ASXL3):c.1191_1192del (p.Gln397fs)	ASXL3 (Q397fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 3024236	NM_030632.3(ASXL3):c.2398C>T (p.Gln800Ter)	ASXL3 (Q800*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2692440	NM_030632.3(ASXL3):c.1609_1612del (p.Leu537fs)	ASXL3 (L537fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2688623	NM_030632.3(ASXL3):c.4336A>T (p.Arg1446Trp)	ASXL3 (R1446W)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2584673	NM_030632.3(ASXL3):c.6067C>T (p.Pro2023Ser)	ASXL3 (P2023S)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2579692	NM_030632.3(ASXL3):c.2617_2618del (p.Glu873fs)	ASXL3 (E873fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2573058	NM_030632.3(ASXL3):c.5414del (p.Pro1805fs)	ASXL3 (P1805fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2570608	NM_030632.3(ASXL3):c.1429dup (p.Ser477fs)	ASXL3 (S477fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 2505098	NM_030632.3(ASXL3):c.2951A>G (p.Asp984Gly)	ASXL3 (D984G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2504074	NM_030632.3(ASXL3):c.3076A>T (p.Lys1026Ter)	ASXL3 (K1026*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 2503411	NM_030632.3(ASXL3):c.1579C>T (p.Gln527Ter)	ASXL3 (Q527*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 2444182	NM_030632.3(ASXL3):c.4624del (p.Ala1542fs)	ASXL3 (A1542fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2442230	NM_030632.3(ASXL3):c.1377_1378del (p.Glu459fs)	ASXL3 (E459fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2439302	NM_030632.3(ASXL3):c.1716A>G (p.Ile572Met)	ASXL3 (I572M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439301	NM_030632.3(ASXL3):c.272A>G (p.Asp91Gly)	ASXL3 (D91G)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439300	NM_030632.3(ASXL3):c.2591_2597delinsT (p.Lys864_His866delinsIle)	ASXL3	Indel (inframe_indel)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439298	NM_030632.3(ASXL3):c.1003C>T (p.Arg335Trp)	ASXL3 (R335W)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439297	NM_030632.3(ASXL3):c.5854T>C (p.Ser1952Pro)	ASXL3 (S1952P)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439296	NM_030632.3(ASXL3):c.1768A>G (p.Ile590Val)	ASXL3 (I590V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2439295	NM_030632.3(ASXL3):c.6586C>G (p.Pro2196Ala)	ASXL3 (P2196A)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439294	NM_030632.3(ASXL3):c.394C>A (p.Arg132=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439293	NM_030632.3(ASXL3):c.4490G>C (p.Ser1497Thr)	ASXL3 (S1497T)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439292	NM_030632.3(ASXL3):c.4228C>T (p.His1410Tyr)	ASXL3 (H1410Y)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439291	NM_030632.3(ASXL3):c.4944C>G (p.Asn1648Lys)	ASXL3 (N1648K)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439290	NM_030632.3(ASXL3):c.4904A>G (p.Glu1635Gly)	ASXL3 (E1635G)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439289	NM_030632.3(ASXL3):c.5076TCC[1] (p.Pro1694del)	ASXL3 (P1694del)	Microsatellite (inframe_deletion)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439288	NM_030632.3(ASXL3):c.6251T>C (p.Leu2084Pro)	ASXL3 (L2084P)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439287	NM_030632.3(ASXL3):c.641T>C (p.Met214Thr)	ASXL3 (M214T)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439286	NM_030632.3(ASXL3):c.464A>G (p.Lys155Arg)	ASXL3 (K155R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439285	NM_030632.3(ASXL3):c.4265C>A (p.Thr1422Lys)	ASXL3 (T1422K)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2439284	NM_030632.3(ASXL3):c.4011G>T (p.Gln1337His)	ASXL3 (Q1337H)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439283	NM_030632.3(ASXL3):c.3526C>T (p.Arg1176Trp)	ASXL3 (R1176W)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439281	NM_030632.3(ASXL3):c.5468G>T (p.Arg1823Leu)	ASXL3 (R1823L)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2439280	NM_030632.3(ASXL3):c.6366C>A (p.Phe2122Leu)	ASXL3 (F2122L)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2435563	NM_030632.3(ASXL3):c.36G>A (p.Trp12Ter)	ASXL3 (W12*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2431626	NM_030632.3(ASXL3):c.1348A>T (p.Ile450Phe)	ASXL3 (I450F)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2431574	NM_030632.3(ASXL3):c.3511A>T (p.Lys1171Ter)	ASXL3 (K1171*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 2430862	NM_030632.3(ASXL3):c.1245G>C (p.Glu415Asp)	ASXL3 (E415D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430020	NM_030632.3(ASXL3):c.1628_1629del (p.Leu543fs)	ASXL3 (L543fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 2430018	NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)	ASXL3 (P1470fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2412756	NM_030632.3(ASXL3):c.1961_1962insA (p.Ser654_Ser655insTer)	ASXL3	Insertion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 2412680	NM_030632.3(ASXL3):c.902_911del (p.Arg301fs)	ASXL3 (R301fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 2306017	NM_030632.3(ASXL3):c.1381A>G (p.Ser461Gly)	ASXL3 (S461G)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GUncertain significance
Select item 2218052	NM_030632.3(ASXL3):c.3193C>T (p.Arg1065Trp)	ASXL3 (R1065W)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GUncertain significance
Select item 1992319	NM_030632.3(ASXL3):c.4356del (p.Lys1452fs)	ASXL3 (K1452fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1878611	NM_030632.3(ASXL3):c.1990C>T (p.Gln664Ter)	ASXL3 (Q664*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1805481	NM_030632.3(ASXL3):c.3433T>C (p.Ser1145Pro)	ASXL3 (S1145P)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1803990	NM_030632.3(ASXL3):c.1419dup (p.Pro474fs)	ASXL3 (P474fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1801819	NM_030632.3(ASXL3):c.3894dup (p.Cys1299fs)	ASXL3 (C1299fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1710071	NM_030632.3(ASXL3):c.1059C>A (p.Phe353Leu)	ASXL3 (F353L)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1709724	NM_030632.3(ASXL3):c.3275dup (p.Gly1094fs)	ASXL3 (G1094fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1709381	NM_030632.3(ASXL3):c.1853C>T (p.Pro618Leu)	ASXL3 (P618L)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1708256	NM_030632.3(ASXL3):c.4890_4893del (p.Lys1631fs)	ASXL3 (K1631fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1705636	NM_030632.3(ASXL3):c.6684_6687dup (p.Cys2230fs)	ASXL3 (C2230fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1705471	NM_030632.3(ASXL3):c.1243G>T (p.Glu415Ter)	ASXL3 (E415*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1701659	NM_030632.3(ASXL3):c.5309G>A (p.Gly1770Glu)	ASXL3 (G1770E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696910	NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter)	ASXL3 (R1823*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1685246	NM_030632.3(ASXL3):c.3807T>G (p.Ser1269Arg)	ASXL3 (S1269R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1679658	NM_030632.3(ASXL3):c.2002del (p.Thr668fs)	ASXL3 (T668fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1679328	NM_030632.3(ASXL3):c.3443dup (p.Pro1148_Glu1149insTer)	ASXL3	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1341743	NM_030632.3(ASXL3):c.6335T>A (p.Leu2112Ter)	ASXL3 (L2112*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1341713	NM_030632.3(ASXL3):c.4826G>A (p.Trp1609Ter)	ASXL3 (W1609*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1336759	NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser)	ASXL3 (R1615S)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1334032	NM_030632.3(ASXL3):c.5798A>G (p.Gln1933Arg)	ASXL3 (Q1933R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1328153	NM_030632.3(ASXL3):c.3039+1G>T	ASXL3	Single nucleotide variant (splice donor variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1325583	NM_030632.3(ASXL3):c.4465G>C (p.Val1489Leu)	ASXL3 (V1489L)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1325582	NM_030632.3(ASXL3):c.1898A>T (p.Gln633Leu)	ASXL3 (Q633L)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1325521	NM_030632.3(ASXL3):c.4054A>G (p.Asn1352Asp)	ASXL3 (N1352D)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1323950	NM_030632.3(ASXL3):c.2160dup (p.Asp721Ter)	ASXL3 (D721*)	Duplication (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1323561	NM_030632.3(ASXL3):c.1667_1668del (p.Thr556fs)	ASXL3 (T556fs)	Microsatellite (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1323555	NM_030632.3(ASXL3):c.3750_3753dup (p.His1252fs)	ASXL3 (H1252fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1320244	NM_030632.3(ASXL3):c.4899T>A (p.Tyr1633Ter)	ASXL3 (Y1633*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1320195	NM_030632.3(ASXL3):c.1402G>T (p.Glu468Ter)	ASXL3 (E468*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1320174	NM_030632.3(ASXL3):c.4403C>G (p.Ser1468Ter)	ASXL3 (S1468*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1320131	NM_030632.3(ASXL3):c.1864dup (p.Cys622fs)	ASXL3 (C622fs)	Duplication (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1320104	NM_030632.3(ASXL3):c.1269C>A (p.Cys423Ter)	ASXL3 (C423*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1319923	NM_030632.3(ASXL3):c.715+5G>C	ASXL3	Single nucleotide variant (intron variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1308656	NM_030632.3(ASXL3):c.3137_3144del (p.Gly1046fs)	ASXL3 (G1046fs)	Deletion (frameshift variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GPathogenic
Select item 1301788	NM_030632.3(ASXL3):c.1621G>A (p.Asp541Asn)	ASXL3 (D541N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1301787	NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del)	ASXL3	Deletion (inframe_deletion)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GConflicting classifications of pathogenicity
Select item 1298338	NM_030632.3(ASXL3):c.2801T>G (p.Leu934Ter)	ASXL3 (L934*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1296058	NM_030632.3(ASXL3):c.1083-75A>G	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290602	NM_030632.3(ASXL3):c.195G>A (p.Gly65=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

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