ClinVar for Gene (Select 7317) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370379	GRCh38/hg38 Xp11.3(chrX:46270996-47571920)x2	ARAF, CDK16 +67 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3361681	NM_003334.4(UBA1):c.2069C>G (p.Ala690Gly)	UBA1 (A690G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360885	NM_003334.4(UBA1):c.2542G>A (p.Asp848Asn)	UBA1 (D848N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360838	NM_003334.4(UBA1):c.1319C>G (p.Thr440Arg)	UBA1 (T440R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350937	NM_003334.4(UBA1):c.977C>G (p.Pro326Arg)	UBA1 (P326R)	Single nucleotide variant (missense variant)	UBA1-related disorder	GUncertain significance
Select item 3253481	NM_003334.4(UBA1):c.1651C>T (p.Arg551Cys)	UBA1 (R551C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3185371	NM_003334.4(UBA1):c.1763G>C (p.Cys588Ser)	UBA1 (C588S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185370	NM_003334.4(UBA1):c.1002G>C (p.Gln334His)	UBA1 (Q334H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3185369	NM_003334.4(UBA1):c.1001A>C (p.Gln334Pro)	UBA1 (Q334P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068023	NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)	UBA1 (R119W)	Single nucleotide variant (missense variant)	VEXAS syndrome	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3036997	NM_003334.4(UBA1):c.2646+3G>A	UBA1	Single nucleotide variant (intron variant)	UBA1-related disorder	GLikely benign
Select item 3030186	NM_003334.4(UBA1):c.2275-5_2275-3del	UBA1	Deletion (intron variant)	UBA1-related disorder	GLikely benign
Select item 3023472	NM_003334.4(UBA1):c.1939-18T>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 3020639	NM_003334.4(UBA1):c.3144C>T (p.Val1048=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 3018445	NM_003334.4(UBA1):c.1939-14_1939-13delinsAT	UBA1	Indel (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 3018124	NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)	UBA1 (T682S)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 3016772	NM_003334.4(UBA1):c.2274+10C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 3016207	NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)	UBA1 (A819I)	Indel (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 3015062	NM_003334.4(UBA1):c.909+11C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 3014456	NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)	UBA1 (T981K)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 3011689	NM_003334.4(UBA1):c.1939-10C>G	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2999234	NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)	UBA1 (R880W)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2993832	NM_003334.4(UBA1):c.15G>A (p.Pro5=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 2992963	NM_003334.4(UBA1):c.2646+19_2646+20del	UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2991318	NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)	UBA1 (S305C)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2987153	NM_003334.4(UBA1):c.2464+7G>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2986301	NM_003334.4(UBA1):c.679-16C>G	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2975865	NM_003334.4(UBA1):c.2859A>G (p.Thr953=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2975088	NM_003334.4(UBA1):c.2701G>A (p.Val901Met)	UBA1 (V901M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2973295	NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)	UBA1 (R348W)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2972834	NM_003334.4(UBA1):c.264T>C (p.Ala88=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2968676	NM_003334.4(UBA1):c.545G>A (p.Arg182His)	UBA1 (R182H)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2960334	NM_003334.4(UBA1):c.572C>T (p.Thr191Met)	UBA1 (T191M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2918457	NM_003334.4(UBA1):c.1233+9G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2917433	NM_003334.4(UBA1):c.2274+14C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2914866	NM_003334.4(UBA1):c.2274+14C>G	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2913490	NM_003334.4(UBA1):c.3090C>T (p.His1030=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2908866	NM_003334.4(UBA1):c.2340C>T (p.Gly780=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2906607	NM_003334.4(UBA1):c.2004-6T>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2904618	NM_003334.4(UBA1):c.1742-19C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2904177	NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)	UBA1 (P168L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2901903	NM_003334.4(UBA1):c.2119G>A (p.Val707Met)	UBA1 (V707M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2901755	NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)	UBA1 (T789A)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2901517	NM_003334.4(UBA1):c.2554-6T>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2901428	NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)	UBA1 (I641V)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2901087	NM_003334.4(UBA1):c.2604C>G (p.Leu868=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2897951	NM_003334.4(UBA1):c.2839-20C>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2895159	NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)	UBA1 (A831V)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2894583	NM_003334.4(UBA1):c.2078G>A (p.Arg693His)	UBA1 (R693H)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2891544	NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)	UBA1 (V691L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2888818	NM_003334.4(UBA1):c.2003+10T>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 2887454	NM_003334.4(UBA1):c.2700C>T (p.Ala900=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2887412	NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)	UBA1 (A136T)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2865608	NM_003334.4(UBA1):c.1233+15G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2857156	NM_003334.4(UBA1):c.2465-5T>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2856682	NM_003334.4(UBA1):c.1668G>A (p.Thr556=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2853909	NM_003334.4(UBA1):c.384C>T (p.Ala128=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2852368	NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)	UBA1 (V1031L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2845926	NM_003334.4(UBA1):c.153C>T (p.Asp51=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2845484	NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)	UBA1 (S460P)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2842330	NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)	LOC126863253, UBA1 (R69W)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2836980	NM_003334.4(UBA1):c.2199+8C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2834948	NM_003334.4(UBA1):c.636T>C (p.Asn212=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2828669	NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)	UBA1 (H712Y)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 2813336	NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)	UBA1 (S620P)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2811693	NM_003334.4(UBA1):c.678+4A>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2809570	NM_003334.4(UBA1):c.345+11C>T	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2807885	NM_003334.4(UBA1):c.1252A>G (p.Met418Val)	UBA1 (M418V)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2807604	NM_003334.4(UBA1):c.811+17G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2803235	NM_003334.4(UBA1):c.2685C>T (p.Ala895=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2799852	NM_003334.4(UBA1):c.484G>T (p.Val162Leu)	UBA1 (V162L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2799011	NM_003334.4(UBA1):c.1741+15G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2798883	NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)	UBA1	Single nucleotide variant (stop lost)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2787674	NM_003334.4(UBA1):c.840C>G (p.Thr280=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2785221	NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)	LOC126863253, UBA1 (A26T)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2783742	NM_003334.4(UBA1):c.1686C>T (p.Asp562=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2783554	NM_003334.4(UBA1):c.118-10C>G	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2783480	NM_003334.4(UBA1):c.2484G>A (p.Glu828=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2765148	NM_003334.4(UBA1):c.2003+11C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2764017	NM_003334.4(UBA1):c.2433C>T (p.Asp811=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2760713	NM_003334.4(UBA1):c.1742-3C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2748658	NM_003334.4(UBA1):c.2554-6_2554-5del	UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2742212	NM_003334.4(UBA1):c.786T>C (p.Asn262=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2741792	NM_003334.4(UBA1):c.587+21del	UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 2737547	NM_003334.4(UBA1):c.1089G>T (p.Gln363His)	UBA1 (Q363H)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2732952	NM_003334.4(UBA1):c.1234-19_1234-16del	UBA1	Microsatellite (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2732900	NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)	UBA1 (A372G)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2730417	NM_003334.4(UBA1):c.345+20T>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2728029	NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)	UBA1 (Y388C)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2727551	NM_003334.4(UBA1):c.1056+20A>G	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2725842	NM_003334.4(UBA1):c.829A>G (p.Ile277Val)	UBA1 (I277V)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2725018	NM_003334.4(UBA1):c.588-13C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2718074	NM_003334.4(UBA1):c.75T>G (p.Pro25=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2715934	NM_003334.4(UBA1):c.2250C>T (p.His750=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2710464	NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)	UBA1 (R1032Q)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2700289	NM_003334.4(UBA1):c.2274+10_2274+14del	UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign

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