"ITMI"[submitter] AND "ASXL1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133601	NM_015338.6(ASXL1):c.656G>T (p.Gly219Val)	ASXL1 (G219V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 133600	NM_015338.6(ASXL1):c.683C>T (p.Ala228Val)	ASXL1 (A228V)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133575	NM_015338.6(ASXL1):c.999G>T (p.Met333Ile)	ASXL1 (M333I +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133576	NM_015338.6(ASXL1):c.1388G>A (p.Ser463Asn)	ASXL1 (S463N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133577	NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln)	ASXL1 (E477Q +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 133591	NM_015338.6(ASXL1):c.1817G>A (p.Arg606Gln)	ASXL1 (R606Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133592	NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser)	ASXL1 (G652S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 133593	NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile)	ASXL1 (V751I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 133594	NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr)	ASXL1 (D799Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 133599	NM_015338.6(ASXL1):c.2444= (p.Pro815=)	ASXL1	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 133578	NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg)	ASXL1 (K838R +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 133579	NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser)	ASXL1 (N986S +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +2 more	GBenign/Likely benign
Select item 133582	NM_015338.6(ASXL1):c.3083C>T (p.Ser1028Leu)	ASXL1 (S1028L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 133595	NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp)	ASXL1 (E1102D +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 133583	NM_015338.6(ASXL1):c.3442C>T (p.Arg1148Cys)	ASXL1 (R1148C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133584	NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg)	ASXL1 (S1166R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 133596	NM_015338.6(ASXL1):c.3503G>C (p.Ser1168Thr)	ASXL1 (S1168T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133585	NM_015338.6(ASXL1):c.3662C>A (p.Thr1221Lys)	ASXL1 (T1221K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133586	NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe)	ASXL1 (S1231F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 133580	NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val)	ASXL1 (M1249V +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GBenign
Select item 133581	NM_015338.6(ASXL1):c.3761A>G (p.Asn1254Ser)	ASXL1 (N1254S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133587	NM_015338.6(ASXL1):c.3817C>T (p.Arg1273Cys)	ASXL1 (R1273C +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133597	NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile)	ASXL1 (V1297I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 133588	NM_015338.6(ASXL1):c.3935C>T (p.Ala1312Val)	ASXL1 (A1312V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133589	NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe)	ASXL1 (L1325F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 133598	NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser)	ASXL1 (G1397S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 133590	NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met)	ASXL1 (T1498M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 27