ClinVar for Gene (Select 55252) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242174	NM_018263.6(ASXL2):c.1207A>T (p.Lys403Ter)	ASXL2 (K143* +2 more)	Single nucleotide variant (nonsense)	Shashi-Pena syndrome	GLikely pathogenic
Select item 3234480	NM_018263.6(ASXL2):c.3962C>A (p.Thr1321Asn)	ASXL2 (T1061N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3130609	NM_018263.6(ASXL2):c.664A>G (p.Thr222Ala)	ASXL2 (T222A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130607	NM_018263.6(ASXL2):c.3994A>T (p.Asn1332Tyr)	ASXL2 (N1072Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130605	NM_018263.6(ASXL2):c.3770A>G (p.Asp1257Gly)	ASXL2 (D1199G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130604	NM_018263.6(ASXL2):c.3623G>T (p.Gly1208Val)	ASXL2 (G1150V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130603	NM_018263.6(ASXL2):c.3545A>G (p.Asp1182Gly)	ASXL2 (D1124G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130602	NM_018263.6(ASXL2):c.3461G>C (p.Ser1154Thr)	ASXL2 (S1096T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130601	NM_018263.6(ASXL2):c.3436C>G (p.Pro1146Ala)	ASXL2 (P886A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130600	NM_018263.6(ASXL2):c.3319A>T (p.Met1107Leu)	ASXL2 (M1107L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130599	NM_018263.6(ASXL2):c.2362G>A (p.Ala788Thr)	ASXL2 (A730T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130598	NM_018263.6(ASXL2):c.2098G>T (p.Gly700Cys)	ASXL2 (G642C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130596	NM_018263.6(ASXL2):c.1559C>G (p.Ser520Cys)	ASXL2 (S260C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130595	NM_018263.6(ASXL2):c.144T>C (p.Ser48=)	ASXL2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3130594	NM_018263.6(ASXL2):c.1340G>A (p.Cys447Tyr)	ASXL2 (C389Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066241	NM_018263.6(ASXL2):c.4262G>C (p.Cys1421Ser)	ASXL2 (C1161S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 3063836	NM_018263.6(ASXL2):c.*10A>G	ASXL2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3063746	NM_018263.6(ASXL2):c.4170G>C (p.Glu1390Asp)	ASXL2 (E1130D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062643	GRCh37/hg19 2p23.3(chr2:25929370-26572068)x1	ADGRF3, ASXL2 +6 more	Copy number loss	not specified	GUncertain significance
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 3055042	NM_018263.6(ASXL2):c.3747G>C (p.Leu1249=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related disorder	GLikely benign
Select item 3047093	NM_018263.6(ASXL2):c.3162C>T (p.Tyr1054=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related disorder	GLikely benign
Select item 3039355	NM_018263.6(ASXL2):c.141-2A>G	ASXL2	Single nucleotide variant (splice acceptor variant)	ASXL2-related disorder	GLikely benign
Select item 3026836	NM_018263.6(ASXL2):c.2698C>T (p.Pro900Ser)	ASXL2 (P640S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026071	NM_018263.6(ASXL2):c.3427T>C (p.Ser1143Pro)	ASXL2 (S1085P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3011988	NM_018263.6(ASXL2):c.2345C>T (p.Thr782Ile)	ASXL2 (T522I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002582	NM_018263.6(ASXL2):c.2471C>T (p.Pro824Leu)	ASXL2 (P564L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3002025	NM_018263.6(ASXL2):c.1884C>G (p.Pro628=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000530	NM_018263.6(ASXL2):c.632-8dup	ASXL2	Duplication (intron variant)	not provided	GBenign
Select item 3000498	NM_018263.6(ASXL2):c.3358A>G (p.Met1120Val)	ASXL2 (M1062V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998456	NM_018263.6(ASXL2):c.3087C>T (p.Leu1029=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989554	NM_018263.6(ASXL2):c.1531A>C (p.Asn511His)	ASXL2 (N453H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987048	NM_018263.6(ASXL2):c.1942A>G (p.Ser648Gly)	ASXL2 (S388G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2974719	NM_018263.6(ASXL2):c.1182T>C (p.Ala394=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974268	NM_018263.6(ASXL2):c.3707C>T (p.Pro1236Leu)	ASXL2 (P976L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971199	NM_018263.6(ASXL2):c.1036+17A>G	ASXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970158	NM_018263.6(ASXL2):c.2033C>T (p.Ala678Val)	ASXL2 (A418V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966962	NM_018263.6(ASXL2):c.939+17C>T	ASXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957026	NM_018263.6(ASXL2):c.1352G>A (p.Gly451Asp)	ASXL2 (G191D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918370	NM_018263.6(ASXL2):c.375G>T (p.Glu125Asp)	ASXL2 (E67D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2902488	NM_018263.6(ASXL2):c.3553A>G (p.Ser1185Gly)	ASXL2 (S1127G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899693	NM_018263.6(ASXL2):c.2294C>T (p.Pro765Leu)	ASXL2 (P765L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2897890	NM_018263.6(ASXL2):c.2076A>G (p.Gly692=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893014	NM_018263.6(ASXL2):c.1626A>G (p.Ala542=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891401	NM_018263.6(ASXL2):c.2694G>C (p.Lys898Asn)	ASXL2 (K638N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890294	NM_018263.6(ASXL2):c.3270C>T (p.Phe1090=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887894	NM_018263.6(ASXL2):c.2724A>G (p.Thr908=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2878519	NM_018263.6(ASXL2):c.3890C>T (p.Pro1297Leu)	ASXL2 (P1239L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861777	NM_018263.6(ASXL2):c.4224C>G (p.Ile1408Met)	ASXL2 (I1350M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857919	NM_018263.6(ASXL2):c.3240C>T (p.Leu1080=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846629	NM_018263.6(ASXL2):c.2498C>G (p.Pro833Arg)	ASXL2 (P833R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840586	NM_018263.6(ASXL2):c.3815A>T (p.Gln1272Leu)	ASXL2 (Q1272L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2832217	NM_018263.6(ASXL2):c.334G>A (p.Glu112Lys)	ASXL2 (E112K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831919	NM_018263.6(ASXL2):c.1442A>C (p.Lys481Thr)	ASXL2 (K423T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2821593	NM_018263.6(ASXL2):c.3029G>A (p.Arg1010Lys)	ASXL2 (R1010K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801919	NM_018263.6(ASXL2):c.4042A>G (p.Ser1348Gly)	ASXL2 (S1290G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796532	NM_018263.6(ASXL2):c.3975A>G (p.Pro1325=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794572	NM_018263.6(ASXL2):c.2143C>T (p.Pro715Ser)	ASXL2 (P455S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791960	NM_018263.6(ASXL2):c.404-15C>T	ASXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780003	NM_018263.6(ASXL2):c.4232A>G (p.Lys1411Arg)	ASXL2 (K1151R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778736	NM_018263.6(ASXL2):c.712G>A (p.Val238Met)	ASXL2 (V238M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777985	NM_018263.6(ASXL2):c.531G>A (p.Lys177=)	ASXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777484	NM_018263.6(ASXL2):c.1890G>A (p.Pro630=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751052	NM_018263.6(ASXL2):c.1250C>A (p.Ala417Asp)	ASXL2 (A157D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733850	NM_018263.6(ASXL2):c.890G>A (p.Gly297Glu)	ASXL2 (G297E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718999	NM_018263.6(ASXL2):c.1640A>C (p.Gln547Pro)	ASXL2 (Q547P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716289	NM_018263.6(ASXL2):c.2687T>C (p.Leu896Ser)	ASXL2 (L636S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704274	NM_018263.6(ASXL2):c.811G>T (p.Val271Phe)	ASXL2 (V11F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701540	NM_018263.6(ASXL2):c.2125A>G (p.Thr709Ala)	ASXL2 (T449A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693743	NM_018263.6(ASXL2):c.3627C>T (p.Asp1209=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2685851	GRCh37/hg19 2p23.3(chr2:25878353-26157646)x3	ASXL2, DTNB +1 more	Copy number gain	not provided	GUncertain significance
Select item 2663591	NM_018263.6(ASXL2):c.1088A>T (p.Glu363Val)	ASXL2 (E103V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662511	NM_018263.6(ASXL2):c.4232A>T (p.Lys1411Ile)	ASXL2 (K1151I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650737	NM_018263.6(ASXL2):c.507G>A (p.Ala169=)	ASXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650736	NM_018263.6(ASXL2):c.1234A>G (p.Met412Val)	ASXL2 (M152V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650735	NM_018263.6(ASXL2):c.1595G>A (p.Gly532Glu)	ASXL2 (G272E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650734	NM_018263.6(ASXL2):c.2866C>T (p.Leu956=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2650733	NM_018263.6(ASXL2):c.4167A>G (p.Glu1389=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650732	NM_018263.6(ASXL2):c.4281G>C (p.Leu1427=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637590	NM_018263.6(ASXL2):c.632-19A>C	ASXL2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2637050	NM_018263.6(ASXL2):c.1775A>G (p.Gln592Arg)	ASXL2 (Q332R +2 more)	Single nucleotide variant (missense variant)	ASXL2-related disorder	GUncertain significance
Select item 2637020	NM_018263.6(ASXL2):c.1462C>A (p.Leu488Ile)	ASXL2 (L228I +2 more)	Single nucleotide variant (missense variant)	ASXL2-related disorder	GUncertain significance
Select item 2630684	NM_018263.6(ASXL2):c.2950G>T (p.Ala984Ser)	ASXL2 (A724S +2 more)	Single nucleotide variant (missense variant)	ASXL2-related disorder	GUncertain significance
Select item 2630531	NM_018263.6(ASXL2):c.122_124del (p.Glu41del)	ASXL2 (E41del)	Deletion (inframe_deletion)	ASXL2-related disorder	GUncertain significance
Select item 2628886	NM_018263.6(ASXL2):c.1549A>C (p.Ser517Arg)	ASXL2 (S257R +2 more)	Single nucleotide variant (missense variant)	ASXL2-related disorder	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 disorder	GUncertain significance
Select item 2627817	NM_018263.6(ASXL2):c.2851C>T (p.Pro951Ser)	ASXL2 (P691S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2623051	NM_018263.6(ASXL2):c.416C>G (p.Ser139Cys)	ASXL2 (S81C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613866	NM_018263.6(ASXL2):c.1817A>T (p.Asn606Ile)	ASXL2 (N346I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613394	NM_018263.6(ASXL2):c.3941C>T (p.Pro1314Leu)	ASXL2 (P1314L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2609735	NM_018263.6(ASXL2):c.2154C>A (p.Asp718Glu)	ASXL2 (D458E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608912	NM_018263.6(ASXL2):c.3904A>G (p.Thr1302Ala)	ASXL2 (T1244A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608255	NM_018263.6(ASXL2):c.4030G>A (p.Ala1344Thr)	ASXL2 (A1084T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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