"ASXL3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630606	NM_030632.3(ASXL3):c.137+9017_137+9018del	ASXL3	Deletion (intron variant)	ASXL3-related disorder	GUncertain significance
Select item 1290602	NM_030632.3(ASXL3):c.195G>A (p.Gly65=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +3 more	GBenign/Likely benign
Select item 3029592	NM_030632.3(ASXL3):c.246+10A>G	ASXL3	Single nucleotide variant (intron variant)	ASXL3-related disorder	GLikely benign
Select item 3031913	NM_030632.3(ASXL3):c.258G>A (p.Ser86=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 1289415	NM_030632.3(ASXL3):c.621A>T (p.Ala207=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder +1 more	GBenign/Likely benign
Select item 1302815	NM_030632.3(ASXL3):c.990A>G (p.Pro330=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1272235	NM_030632.3(ASXL3):c.1245G>T (p.Glu415Asp)	ASXL3 (E415D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2632180	NM_030632.3(ASXL3):c.1419A>G (p.Ile473Met)	ASXL3 (I473M)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 210366	NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr)	ASXL3 (H552Y)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +3 more	GBenign/Likely benign
Select item 210367	NM_030632.3(ASXL3):c.1707C>T (p.Thr569=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 975645	NM_030632.3(ASXL3):c.1733C>T (p.Ser578Phe)	ASXL3 (S578F)	Single nucleotide variant (missense variant)	ASXL3-related disorder +1 more	GLikely benign
Select item 210368	NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu)	ASXL3 (P642L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1236928	NM_030632.3(ASXL3):c.1995A>G (p.Arg665=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3042056	NM_030632.3(ASXL3):c.2070del (p.Glu691fs)	ASXL3 (E691fs)	Deletion (frameshift variant)	ASXL3-related disorder	GLikely pathogenic
Select item 3032494	NM_030632.3(ASXL3):c.2075C>A (p.Ala692Glu)	ASXL3 (A692E)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 2637403	NM_030632.3(ASXL3):c.2231C>G (p.Ser744Cys)	ASXL3 (S744C)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 210369	NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu)	ASXL3 (P781L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1286293	NM_030632.3(ASXL3):c.2537A>G (p.Lys846Arg)	ASXL3 (K846R)	Single nucleotide variant (missense variant)	ASXL3-related disorder +2 more	GBenign/Likely benign
Select item 1050188	NM_030632.3(ASXL3):c.2579T>A (p.Met860Lys)	ASXL3 (M860K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1235673	NM_030632.3(ASXL3):c.2583A>T (p.Ile861=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3047815	NM_030632.3(ASXL3):c.2586A>G (p.Lys862=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1261189	NM_030632.3(ASXL3):c.2731G>A (p.Val911Met)	ASXL3 (V911M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 389938	NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly)	ASXL3 (R989G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 522818	NM_030632.3(ASXL3):c.3039+1G>A	ASXL3	Single nucleotide variant (splice donor variant)	ASXL3-related disorder +2 more	GPathogenic
Select item 1259829	NM_030632.3(ASXL3):c.3124T>C (p.Ser1042Pro)	ASXL3 (S1042P)	Single nucleotide variant (missense variant)	ASXL3-related disorder +1 more	GBenign/Likely benign
Select item 2352949	NM_030632.3(ASXL3):c.3130A>G (p.Ser1044Gly)	ASXL3 (S1044G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1174209	NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2632112	NM_030632.3(ASXL3):c.3382C>T (p.Arg1128Trp)	ASXL3 (R1128W)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 445597	NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg)	ASXL3 (P1130R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign/Likely benign
Select item 1284112	NM_030632.3(ASXL3):c.3391C>T (p.Pro1131Ser)	ASXL3 (P1131S)	Single nucleotide variant (missense variant)	ASXL3-related disorder +1 more	GBenign/Likely benign
Select item 3030208	NM_030632.3(ASXL3):c.3498A>G (p.Arg1166=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 3033787	NM_030632.3(ASXL3):c.3789C>A (p.Val1263=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 3036316	NM_030632.3(ASXL3):c.3985A>G (p.Ser1329Gly)	ASXL3 (S1329G)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GLikely benign
Select item 1266822	NM_030632.3(ASXL3):c.4036A>G (p.Ile1346Val)	ASXL3 (I1346V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1229069	NM_030632.3(ASXL3):c.4470C>T (p.Ser1490=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder +1 more	GBenign/Likely benign
Select item 3037095	NM_030632.3(ASXL3):c.4717A>G (p.Thr1573Ala)	ASXL3 (T1573A)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 3047080	NM_030632.3(ASXL3):c.4953C>T (p.Asn1651=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 1246475	NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=)	ASXL3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 377349	NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met)	ASXL3 (V1668M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 434424	NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn)	ASXL3 (D1725N)	Single nucleotide variant (missense variant)	ASXL3-related disorder +3 more	GBenign/Likely benign
Select item 3040981	NM_030632.3(ASXL3):c.5649C>T (p.Ser1883=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 2628871	NM_030632.3(ASXL3):c.5894G>C (p.Arg1965Thr)	ASXL3 (R1965T)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 1238262	NM_030632.3(ASXL3):c.5985C>T (p.Pro1995=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2634786	NM_030632.3(ASXL3):c.6056C>T (p.Pro2019Leu)	ASXL3 (P2019L)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 3053547	NM_030632.3(ASXL3):c.6066T>C (p.Pro2022=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 2231722	NM_030632.3(ASXL3):c.6107C>T (p.Pro2036Leu)	ASXL3 (P2036L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3029861	NM_030632.3(ASXL3):c.6114A>C (p.Pro2038=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 218805	NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)	ASXL3 (L2067R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 3061681	NM_030632.3(ASXL3):c.6250C>A (p.Leu2084Ile)	ASXL3 (L2084I)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 3061359	NM_030632.3(ASXL3):c.6282T>G (p.Cys2094Trp)	ASXL3 (C2094W)	Single nucleotide variant (missense variant)	ASXL3-related disorder	GUncertain significance
Select item 3051468	NM_030632.3(ASXL3):c.6309T>C (p.Tyr2103=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 3047517	NM_030632.3(ASXL3):c.6345C>T (p.Phe2115=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 975647	NM_030632.3(ASXL3):c.6346G>A (p.Ala2116Thr)	ASXL3 (A2116T)	Single nucleotide variant (missense variant)	ASXL3-related disorder +1 more	GBenign/Likely benign
Select item 975646	NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val)	ASXL3 (A2120V)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign/Likely benign
Select item 2443242	NM_030632.3(ASXL3):c.6477T>C (p.Phe2159=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 3038766	NM_030632.3(ASXL3):c.6610A>G (p.Ser2204Gly)	ASXL3 (S2204G)	Single nucleotide variant (missense variant)	ASXL3-related disorder +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56