ClinVar for Gene (Select 79868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3365093	NM_001099922.3(ALG13):c.1155T>G (p.Ile385Met)	ALG13 (I281M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362043	NM_001099922.3(ALG13):c.3113G>T (p.Arg1038Ile)	ALG13 (R1038I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361619	NM_001099922.3(ALG13):c.2630C>G (p.Thr877Ser)	ALG13 (T715S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359814	NM_001099922.3(ALG13):c.430G>C (p.Gly144Arg)	ALG13 (G144R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359605	NM_001099922.3(ALG13):c.896G>A (p.Gly299Asp)	ALG13 (G195D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345074	NM_001099922.3(ALG13):c.794G>T (p.Cys265Phe)	ALG13 (C161F +2 more)	Single nucleotide variant (missense variant +1 more)	ALG13-related disorder	GUncertain significance
Select item 3343828	NM_001099922.3(ALG13):c.2479T>C (p.Cys827Arg)	ALG13 (C665R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343472	NM_001099922.3(ALG13):c.2702C>G (p.Ala901Gly)	ALG13 (A823G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340788	NM_001099922.3(ALG13):c.304G>A (p.Glu102Lys)	ALG13 (E102K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3338246	NM_001099922.3(ALG13):c.2795_2796insCCT (p.Pro932_Pro933insLeu)	ALG13	Insertion (inframe_insertion +1 more)	Developmental and epileptic encephalopathy, 36	GBenign
Select item 3338245	NM_001099922.3(ALG13):c.2752_2753insACC (p.Ser917_Leu918insHis)	ALG13	Insertion (inframe_insertion +1 more)	Developmental and epileptic encephalopathy, 36	GBenign
Select item 3338244	NM_001099922.3(ALG13):c.383+2786C>T	ALG13 (T129M +3 more)	Single nucleotide variant (synonymous variant +4 more)	Developmental and epileptic encephalopathy, 36	GBenign
Select item 3252961	NM_001099922.3(ALG13):c.856A>G (p.Lys286Glu)	ALG13 (K182E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245548	NC_000023.10:g.(?_110973603)_(110973828_?)dup	ALG13	Duplication	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 3242594	NM_001099922.3(ALG13):c.412dup (p.Ser138fs)	ALG13 (S138fs +2 more)	Duplication (frameshift variant +1 more)	Seizure	GLikely pathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3052216	NM_001099922.3(ALG13):c.383+2810T>C	ALG13 (M137T +3 more)	Single nucleotide variant (synonymous variant +4 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3019056	NM_001099922.3(ALG13):c.3012G>A (p.Val1004=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3017004	NM_001099922.3(ALG13):c.245-10A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3015710	NM_001099922.3(ALG13):c.384-15C>T	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3015647	NM_001099922.3(ALG13):c.432G>A (p.Gly144=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3015163	NM_001099922.3(ALG13):c.2799T>C (p.Pro933=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3014790	NM_001099922.3(ALG13):c.1326+22del	ALG13	Deletion (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3014529	NM_001099922.3(ALG13):c.2670A>G (p.Val890=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3013488	NM_001099922.3(ALG13):c.834+14A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GBenign
Select item 3012363	NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)	ALG13 (F206L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 36 +1 more	GUncertain significance
Select item 3010280	NM_001099922.3(ALG13):c.3148+7G>C	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3009618	NM_001099922.3(ALG13):c.1143G>C (p.Leu381Phe)	ALG13 (L303F +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 3009297	NM_001099922.3(ALG13):c.312G>C (p.Leu104Phe)	ALG13 (L104F +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 3009084	NM_001099922.3(ALG13):c.2440G>A (p.Ala814Thr)	ALG13 (A652T +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 3006805	NM_001099922.3(ALG13):c.1098C>T (p.Tyr366=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3003761	NM_001099922.3(ALG13):c.2108A>G (p.His703Arg)	ALG13 (H703R +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 3001004	NM_001099922.3(ALG13):c.383+8A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GBenign
Select item 2997520	NM_001099922.3(ALG13):c.870G>A (p.Arg290=)	ALG13	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2997000	NM_001099922.3(ALG13):c.2193T>G (p.Thr731=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2996264	NM_001099922.3(ALG13):c.3066A>G (p.Pro1022=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2995395	NM_001099922.3(ALG13):c.2436A>G (p.Thr812=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2990756	NM_001099922.3(ALG13):c.1006-16G>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2989196	NM_001099922.3(ALG13):c.383+17T>C	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2988450	NM_001099922.3(ALG13):c.2090+20_2090+23del	ALG13	Deletion (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2986363	NM_001099922.3(ALG13):c.1365G>A (p.Lys455=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2985992	NM_001099922.3(ALG13):c.1250+14A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2984598	NM_001099922.3(ALG13):c.2814T>A (p.Pro938=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2983492	NM_001099922.3(ALG13):c.2796_2810del (p.Pro941_Pro945del)	ALG13	Deletion (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2979571	NM_001099922.3(ALG13):c.2802T>C (p.Pro934=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2978709	NM_001099922.3(ALG13):c.2536G>A (p.Gly846Arg)	ALG13 (G846R +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2975030	NM_001099922.3(ALG13):c.377C>A (p.Thr126Asn)	ALG13 (T128N +4 more)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2968625	NM_001099922.3(ALG13):c.81+16G>A	ALG13	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2962032	NM_001099922.3(ALG13):c.751T>C (p.Leu251=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2961626	NM_001099922.3(ALG13):c.805A>G (p.Met269Val)	ALG13 (M191V +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2961292	NM_001099922.3(ALG13):c.932+13C>T	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2960428	NM_001099922.3(ALG13):c.1005+13G>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2955812	NM_001099922.3(ALG13):c.383+16ATT[2]	ALG13	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2920140	NM_001099922.3(ALG13):c.362A>G (p.His121Arg)	ALG13 (H123R +3 more)	Single nucleotide variant (synonymous variant +2 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2919668	NM_001099922.3(ALG13):c.1974C>T (p.Pro658=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2919106	NM_001099922.3(ALG13):c.1530T>C (p.Tyr510=)	ALG13	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2917765	NM_001099922.3(ALG13):c.3123C>T (p.Gly1041=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2916382	NM_001099922.3(ALG13):c.1844T>G (p.Leu615Arg)	ALG13 (L453R +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2915189	NM_001099922.3(ALG13):c.2369-15_2369-11del	ALG13	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2914904	NM_001099922.3(ALG13):c.518C>G (p.Ala173Gly)	ALG13 (A173G +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2914826	NM_001099922.3(ALG13):c.2530-15C>T	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2914822	NM_001099922.3(ALG13):c.1536T>C (p.Ala512=)	ALG13	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2913062	NM_001099922.3(ALG13):c.2695+15G>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2912499	NM_001099922.3(ALG13):c.2358G>T (p.Gln786His)	ALG13 (Q624H +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2911640	NM_001099922.3(ALG13):c.2598C>T (p.Asn866=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2911194	NM_001099922.3(ALG13):c.2402-14G>T	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2910312	NM_001099922.3(ALG13):c.2458-4A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2910253	NM_001099922.3(ALG13):c.2530-16T>C	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2908150	NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)	ALG13 (S755N +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GBenign
Select item 2907430	NM_001099922.3(ALG13):c.933-20C>T	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2906454	NM_001099922.3(ALG13):c.165G>A (p.Ser55=)	ALG13	Single nucleotide variant (synonymous variant +3 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2904343	NM_001099922.3(ALG13):c.2705C>T (p.Ser902Leu)	ALG13 (S902L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2903531	NM_001099922.3(ALG13):c.3148+7G>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2903243	NM_001099922.3(ALG13):c.2247+16C>T	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2902845	NM_001099922.3(ALG13):c.1691G>T (p.Gly564Val)	ALG13 (G460V +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2898378	NM_001099922.3(ALG13):c.1946C>T (p.Pro649Leu)	ALG13 (P649L +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2894899	NM_001099922.3(ALG13):c.2053T>A (p.Cys685Ser)	ALG13 (C523S +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2894827	NM_001099922.3(ALG13):c.2124T>C (p.Cys708=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2893707	NM_001099922.3(ALG13):c.1976+14A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2893361	NM_001099922.3(ALG13):c.2529+12A>T	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2893310	NM_001099922.3(ALG13):c.1005+10T>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2892672	NM_001099922.3(ALG13):c.81+18G>A	ALG13	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2891852	NM_001099922.3(ALG13):c.2932+16G>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2891847	NM_001099922.3(ALG13):c.2304G>A (p.Arg768=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2890952	NM_001099922.3(ALG13):c.2458-10T>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2890653	NM_001099922.3(ALG13):c.729C>T (p.Leu243=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2890332	NM_001099922.3(ALG13):c.1722G>A (p.Pro574=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2889902	NM_001099922.3(ALG13):c.2442A>G (p.Ala814=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2888345	NM_001099922.3(ALG13):c.1977-17T>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2887885	NM_001099922.3(ALG13):c.3131C>T (p.Ala1044Val)	ALG13 (A803V +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2887760	NM_001099922.3(ALG13):c.2547A>T (p.Ala849=)	ALG13	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2884182	NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)	ALG13 (S31N)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2883363	NM_001099922.3(ALG13):c.1019A>G (p.Tyr340Cys)	ALG13 (Y262C +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2883180	NM_001099922.3(ALG13):c.2369-20G>A	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2881414	NM_001099922.3(ALG13):c.1500+13T>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2881413	NM_001099922.3(ALG13):c.1500+12del	ALG13	Deletion (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 2879036	NM_001099922.3(ALG13):c.885+13A>G	ALG13	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 36	GLikely benign

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