Related gene-specific medical variations for Gene (Select 55252) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062134	NM_018263.6(ASXL2):c.3784G>T (p.Ala1262Ser)	ASXL2 (A1002S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 3062124	NM_018263.6(ASXL2):c.2594_2595delinsAC (p.Ile865Asn)	ASXL2 (I605N +2 more)	Indel (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 3062123	NM_018263.6(ASXL2):c.2591_2592insC (p.Ile865fs)	ASXL2 (I605fs +2 more)	Insertion (frameshift variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2688622	NM_018263.6(ASXL2):c.3706C>T (p.Pro1236Ser)	ASXL2 (P1178S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2688621	NM_018263.6(ASXL2):c.3869G>A (p.Ser1290Asn)	ASXL2 (S1030N +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2439279	NM_018263.6(ASXL2):c.2806A>G (p.Asn936Asp)	ASXL2 (N676D +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2439278	NM_018263.6(ASXL2):c.4061T>C (p.Val1354Ala)	ASXL2 (V1094A +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2439277	NM_018263.6(ASXL2):c.2157_2158del (p.Arg719fs)	ASXL2 (R459fs +2 more)	Microsatellite (frameshift variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2439276	NM_018263.6(ASXL2):c.1397C>T (p.Ser466Phe)	ASXL2 (S206F +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2439275	NM_018263.6(ASXL2):c.883C>A (p.Leu295Ile)	ASXL2 (L237I +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2429973	NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)	ASXL2 (T516P +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 1992351	NM_018263.6(ASXL2):c.1143-1G>T	ASXL2	Single nucleotide variant (splice acceptor variant)	Shashi-Pena syndrome	GLikely pathogenic
Select item 1342515	NM_018263.6(ASXL2):c.2845A>C (p.Asn949His)	ASXL2 (N689H +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 1319716	NM_018263.6(ASXL2):c.2990A>G (p.Asn997Ser)	ASXL2 (N737S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213734	NM_018263.6(ASXL2):c.2168C>T (p.Thr723Ile)	ASXL2 (T463I +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 1184384	NM_018263.6(ASXL2):c.4105G>T (p.Ala1369Ser)	ASXL2 (A1109S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 987075	NM_018263.6(ASXL2):c.1309C>T (p.Gln437Ter)	ASXL2 (Q177* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 931398	NM_018263.6(ASXL2):c.2847T>G (p.Asn949Lys)	ASXL2 (N689K +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 930582	NM_018263.6(ASXL2):c.620C>T (p.Pro207Leu)	ASXL2 (P149L +1 more)	Single nucleotide variant (missense variant +1 more)	Shashi-Pena syndrome	GUncertain significance