"ASXL2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2906015	NM_018263.6(ASXL2):c.4299C>G (p.Val1433=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 799516	NM_018263.6(ASXL2):c.4284C>T (p.Cys1428=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 732358	NM_018263.6(ASXL2):c.4188G>A (p.Thr1396=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 736445	NM_018263.6(ASXL2):c.4164C>T (p.Ser1388=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related condition +1 more	GLikely benign
Select item 2071249	NM_018263.6(ASXL2):c.3830T>C (p.Val1277Ala)	ASXL2 (V1219A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3055042	NM_018263.6(ASXL2):c.3747G>C (p.Leu1249=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related condition	GLikely benign
Select item 1455264	NM_018263.6(ASXL2):c.3597C>T (p.Pro1199=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 771125	NM_018263.6(ASXL2):c.3224G>A (p.Arg1075Gln)	ASXL2 (R1017Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3047093	NM_018263.6(ASXL2):c.3162C>T (p.Tyr1054=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related condition	GLikely benign
Select item 2166440	NM_018263.6(ASXL2):c.3053A>G (p.Gln1018Arg)	ASXL2 (Q1018R +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 797763	NM_018263.6(ASXL2):c.2976G>A (p.Ala992=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related condition +1 more	GLikely benign
Select item 2630684	NM_018263.6(ASXL2):c.2950G>T (p.Ala984Ser)	ASXL2 (A724S +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition	GUncertain significance
Select item 2044003	NM_018263.6(ASXL2):c.2838C>T (p.Ile946=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related condition +1 more	GLikely benign
Select item 749383	NM_018263.6(ASXL2):c.2220G>A (p.Thr740=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 729663	NM_018263.6(ASXL2):c.2050G>A (p.Ala684Thr)	ASXL2 (A626T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1563779	NM_018263.6(ASXL2):c.1823G>A (p.Gly608Glu)	ASXL2 (G348E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2637050	NM_018263.6(ASXL2):c.1775A>G (p.Gln592Arg)	ASXL2 (Q332R +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition	GUncertain significance
Select item 714109	NM_018263.6(ASXL2):c.1772G>A (p.Arg591His)	ASXL2 (R331H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 787000	NM_018263.6(ASXL2):c.1609A>G (p.Ile537Val)	ASXL2 (I277V +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition +1 more	GLikely benign
Select item 2628886	NM_018263.6(ASXL2):c.1549A>C (p.Ser517Arg)	ASXL2 (S257R +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition	GUncertain significance
Select item 2628462	NM_018263.6(ASXL2):c.1522A>G (p.Thr508Ala)	ASXL2 (T248A +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition	GUncertain significance
Select item 777989	NM_018263.6(ASXL2):c.1489G>A (p.Ala497Thr)	ASXL2 (A237T +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition +2 more	GBenign/Likely benign
Select item 2637020	NM_018263.6(ASXL2):c.1462C>A (p.Leu488Ile)	ASXL2 (L228I +2 more)	Single nucleotide variant (missense variant)	ASXL2-related condition	GUncertain significance
Select item 724335	NM_018263.6(ASXL2):c.1388C>G (p.Pro463Arg)	ASXL2 (P463R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2155353	NM_018263.6(ASXL2):c.498A>G (p.Leu166=)	ASXL2	Single nucleotide variant (synonymous variant +1 more)	ASXL2-related condition +1 more	GLikely benign
Select item 721222	NM_018263.6(ASXL2):c.258T>A (p.Asp86Glu)	ASXL2 (D86E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3039355	NM_018263.6(ASXL2):c.141-2A>G	ASXL2	Single nucleotide variant (splice acceptor variant)	ASXL2-related condition	GLikely benign
Select item 2630531	NM_018263.6(ASXL2):c.122_124del (p.Glu41del)	ASXL2 (E41del)	Deletion (inframe_deletion)	ASXL2-related condition	GUncertain significance

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Items: 28