ClinVar for MedGen (Select 443952) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247797	NC_000001.10:g.(?_63881705)_(63885042_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 3247796	NC_000001.10:g.(?_63867905)_(63870232_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 3247795	NC_000001.10:g.(?_63881524)_(63885131_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 3247794	NC_000001.10:g.(?_63862164)_(63862288_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 3241485	NM_013339.4(ALG6):c.536_537del (p.Leu179fs)	ALG6 (L179fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 3241474	NM_013339.4(ALG6):c.680+1G>T	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 3241424	NM_013339.4(ALG6):c.1013del (p.Leu338fs)	ALG6 (L338fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 3024040	NM_013339.4(ALG6):c.1128-15A>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3023531	NM_013339.4(ALG6):c.1058+16T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3020609	NM_013339.4(ALG6):c.138A>G (p.Glu46=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3019794	NM_013339.4(ALG6):c.988-14_988-13del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3019242	NM_013339.4(ALG6):c.1127+14A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3018184	NM_013339.4(ALG6):c.257+19A>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3017702	NM_013339.4(ALG6):c.988-13T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3015257	NM_013339.4(ALG6):c.988-15C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 3010203	NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)	ALG6 (L334fs)	Indel (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2998678	NM_013339.4(ALG6):c.123G>A (p.Gln41=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2995931	NM_013339.4(ALG6):c.769C>T (p.Leu257=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2992772	NM_013339.4(ALG6):c.82+18G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2992261	NM_013339.4(ALG6):c.60A>G (p.Thr20=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2990220	NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)	ALG6 (S366F)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2989782	NM_013339.4(ALG6):c.651G>A (p.Lys217=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2986096	NM_013339.4(ALG6):c.681-17C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2983835	NM_013339.4(ALG6):c.988-16C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2981930	NM_013339.4(ALG6):c.144T>A (p.Thr48=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2979925	NM_013339.4(ALG6):c.680+19C>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2972127	NM_013339.4(ALG6):c.984A>C (p.Thr328=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2968176	NM_013339.4(ALG6):c.714del (p.Val239fs)	ALG6 (V239fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2967423	NM_013339.4(ALG6):c.346+12A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2963947	NM_013339.4(ALG6):c.1041C>G (p.Ser347=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2959032	NM_013339.4(ALG6):c.443dup (p.Leu148fs)	ALG6 (L148fs)	Duplication (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2955979	NM_013339.4(ALG6):c.1048T>C (p.Leu350=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2920244	NM_013339.4(ALG6):c.1127+20A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2918282	NM_013339.4(ALG6):c.430-18C>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2918268	NM_013339.4(ALG6):c.903-11T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2917093	NM_013339.4(ALG6):c.999G>T (p.Ala333=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2910852	NM_013339.4(ALG6):c.546T>G (p.Ser182=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2909682	NM_013339.4(ALG6):c.1137T>A (p.Pro379=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2904415	NM_013339.4(ALG6):c.346+20T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2902150	NM_013339.4(ALG6):c.1327-12T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2901642	NM_013339.4(ALG6):c.988-14C>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2897994	NM_013339.4(ALG6):c.988-16C>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2887267	NM_013339.4(ALG6):c.82+17G>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2883389	NM_013339.4(ALG6):c.636C>T (p.Cys212=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2883224	NM_013339.4(ALG6):c.903-16T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2882728	NM_013339.4(ALG6):c.346+13T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2882406	NM_013339.4(ALG6):c.774G>A (p.Gln258=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2871869	NM_013339.4(ALG6):c.988-7C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2865910	NM_013339.4(ALG6):c.167+7del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2865366	NM_013339.4(ALG6):c.82+13T>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2862454	NM_013339.4(ALG6):c.83-20C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2861045	NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)	ALG6 (W4*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2860894	NM_013339.4(ALG6):c.454C>T (p.Leu152=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2860634	NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)	ALG6 (K410fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2856651	NM_013339.4(ALG6):c.258-18A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2854979	NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)	ALG6 (V358fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2848847	NM_013339.4(ALG6):c.723C>G (p.Ser241=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2846596	NM_013339.4(ALG6):c.680+8del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2846020	NM_013339.4(ALG6):c.1206A>G (p.Val402=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2845301	NM_013339.4(ALG6):c.1428T>C (p.Phe476=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2844510	NM_013339.4(ALG6):c.988-7dup	ALG6	Duplication (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2843918	NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)	ALG6 (S322A)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2842115	NM_013339.4(ALG6):c.1467T>C (p.Phe489=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2841239	NM_013339.4(ALG6):c.257+14del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2834002	NM_013339.4(ALG6):c.1326+10A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2833916	NM_013339.4(ALG6):c.167+14A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2833409	NM_013339.4(ALG6):c.984A>G (p.Thr328=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2826298	NM_013339.4(ALG6):c.1227A>G (p.Glu409=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2822411	NM_013339.4(ALG6):c.258-9G>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2821772	NM_013339.4(ALG6):c.1327-17C>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2819732	NM_013339.4(ALG6):c.442T>C (p.Leu148=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2819231	NM_013339.4(ALG6):c.562C>T (p.Leu188=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2816183	NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)	ALG6 (G269*)	Duplication (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2814628	NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT	ALG6	Microsatellite (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2810427	NM_013339.4(ALG6):c.1260C>T (p.Ser420=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2809974	NM_013339.4(ALG6):c.681-1G>T	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2808413	NM_013339.4(ALG6):c.258-18A>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2802430	NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)	ALG6 (Y166*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2802284	NM_013339.4(ALG6):c.257+10del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GBenign
Select item 2799271	NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)	ALG6 (W94*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2796711	NM_013339.4(ALG6):c.600A>G (p.Lys200=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2795498	NM_013339.4(ALG6):c.1449G>C (p.Leu483=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2792411	NM_013339.4(ALG6):c.346+11A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2791444	NM_013339.4(ALG6):c.1327-16C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2790012	NM_013339.4(ALG6):c.1058+16del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2785217	NM_013339.4(ALG6):c.552C>T (p.Asp184=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2784039	NM_013339.4(ALG6):c.699G>A (p.Lys233=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2781848	NM_013339.4(ALG6):c.347-14A>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2781818	NM_013339.4(ALG6):c.27A>C (p.Val9=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2781081	NM_013339.4(ALG6):c.1281A>G (p.Lys427=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2773072	NM_013339.4(ALG6):c.1058+19A>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2772318	NM_013339.4(ALG6):c.352del (p.Ile118fs)	ALG6 (I118fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2769860	NM_013339.4(ALG6):c.902+12A>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2769799	NM_013339.4(ALG6):c.622T>C (p.Leu208=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2769748	NM_013339.4(ALG6):c.1144T>C (p.Leu382=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2768470	NM_013339.4(ALG6):c.226dup (p.Thr76fs)	ALG6 (T76fs)	Duplication (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2768261	NM_013339.4(ALG6):c.1188A>G (p.Ala396=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2761497	NM_013339.4(ALG6):c.1327-13T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2760855	NM_013339.4(ALG6):c.1308del (p.Arg437fs)	ALG6 (R437fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2760687	NM_013339.4(ALG6):c.1059-20T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign

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