ClinVar for MedGen (Select 419308) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243500	NC_000016.9:g.(?_5127426)_(5129828_?)del	ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243499	NC_000016.9:g.(?_5127426)_(5134882_?)del	EEF2KMT, ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243498	NC_000016.9:g.(?_5133663)_(5134882_?)del	ALG1, EEF2KMT	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243497	NC_000016.9:g.(?_5132540)_(5134882_?)del	EEF2KMT, ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243496	NC_000016.9:g.(?_5121851)_(5123277_?)del	ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243495	NC_000016.9:g.(?_5125369)_(5125557_?)del	ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243492	NC_000016.9:g.(?_5121851)_(5122078_?)del	ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3023754	NM_019109.5(ALG1):c.540-2A>T	ALG1	Single nucleotide variant (splice acceptor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3021392	NM_019109.5(ALG1):c.901+13C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3020456	NM_019109.5(ALG1):c.286+8G>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3020219	NM_019109.5(ALG1):c.534C>T (p.Ala178=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3018852	NM_019109.5(ALG1):c.1144A>G (p.Met382Val)	ALG1 (M382V +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3018036	NM_019109.5(ALG1):c.901+17G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3017599	NM_019109.5(ALG1):c.930C>T (p.His310=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3017509	NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)	ALG1 (K106T)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3016188	NM_019109.5(ALG1):c.91del (p.Ala31fs)	ALG1 (A31fs)	Deletion (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3015639	NM_019109.5(ALG1):c.729G>A (p.Pro243=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3014793	NM_019109.5(ALG1):c.208+1G>A	ALG1, LOC130058384	Single nucleotide variant (splice donor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3013041	NM_019109.5(ALG1):c.629+17T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3011944	NM_019109.5(ALG1):c.741-12dup	ALG1	Duplication (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3010990	NM_019109.5(ALG1):c.629+16A>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3009423	NM_019109.5(ALG1):c.612G>A (p.Ala204=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3009189	NM_019109.5(ALG1):c.1062C>G (p.Pro354=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3006822	NM_019109.5(ALG1):c.164dup (p.Leu56fs)	ALG1, LOC130058384 (L56fs)	Duplication (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3005983	NM_019109.5(ALG1):c.740+20C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3004372	NM_019109.5(ALG1):c.921T>C (p.Leu307=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2999944	NM_019109.5(ALG1):c.1072+12G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2997354	NM_019109.5(ALG1):c.183C>T (p.Phe61=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2996365	NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)	ALG1 (P98S)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2994265	NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)	ALG1, EEF2KMT (P348L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2992592	NM_019109.5(ALG1):c.1086G>C (p.Leu362=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2992591	NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)	ALG1 (P226R +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2991143	NM_019109.5(ALG1):c.819C>G (p.Leu273=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2987696	NM_019109.5(ALG1):c.987T>C (p.Tyr329=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2987439	NM_019109.5(ALG1):c.396C>T (p.Pro132=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2984991	NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)	ALG1 (C254* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 2983905	NM_019109.5(ALG1):c.699C>G (p.Leu233=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2983904	NM_019109.5(ALG1):c.213C>G (p.Ser71=)	ALG1	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2977188	NM_019109.5(ALG1):c.160C>T (p.Leu54=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2974589	NM_019109.5(ALG1):c.390+11G>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2972144	NM_019109.5(ALG1):c.12A>G (p.Ser4=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2971818	NM_019109.5(ALG1):c.741-9C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2969813	NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)	ALG1 (S71C)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2969358	NM_019109.5(ALG1):c.244A>C (p.Arg82=)	ALG1	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2968421	NM_019109.5(ALG1):c.1200G>T (p.Leu400=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2965104	NM_019109.5(ALG1):c.1264-17T>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2961164	NM_019109.5(ALG1):c.539+20G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2957507	NM_019109.5(ALG1):c.1072+13C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2956035	NM_019109.5(ALG1):c.55C>T (p.Leu19=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2954573	NM_019109.5(ALG1):c.630-16C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2920388	NM_019109.5(ALG1):c.27G>A (p.Leu9=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2919263	NM_019109.5(ALG1):c.851C>T (p.Thr284Met)	ALG1 (T173M +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2918234	NM_019109.5(ALG1):c.1263+9G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2917289	NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)	ALG1 (Y70* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 2916800	NM_019109.5(ALG1):c.372T>C (p.Gly124=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2916406	NM_019109.5(ALG1):c.630-20C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2915044	NM_019109.5(ALG1):c.30G>C (p.Ala10=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2907929	NM_019109.5(ALG1):c.768G>A (p.Glu256=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2901968	NM_019109.5(ALG1):c.1117C>T (p.Leu373=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2901358	NM_019109.5(ALG1):c.287-19G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2900453	NM_019109.5(ALG1):c.123C>T (p.Gly41=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2900435	NM_019109.5(ALG1):c.21C>G (p.Val7=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2898777	NM_019109.5(ALG1):c.1203G>A (p.Val401=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2897993	NM_019109.5(ALG1):c.208+19G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2897735	NM_019109.5(ALG1):c.539+10T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2897691	NM_019109.5(ALG1):c.1188-10C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2896901	NM_019109.5(ALG1):c.231C>G (p.Leu77=)	ALG1	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2896565	NM_019109.5(ALG1):c.1062C>A (p.Pro354=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2895255	NM_019109.5(ALG1):c.512dup (p.Asn171fs)	ALG1 (N60fs +1 more)	Duplication (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 2894861	NM_019109.5(ALG1):c.286+10C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2894851	NM_019109.5(ALG1):c.901+18G>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2894777	NM_019109.5(ALG1):c.629+17_629+32dup	ALG1	Duplication (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2893847	NM_019109.5(ALG1):c.1038C>T (p.Pro346=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2891834	NM_019109.5(ALG1):c.969G>A (p.Gly323=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2890007	NM_019109.5(ALG1):c.624C>T (p.His208=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2888488	NM_019109.5(ALG1):c.927A>G (p.Gly309=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2887926	NM_019109.5(ALG1):c.835C>T (p.Leu279=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2887337	NM_019109.5(ALG1):c.43C>T (p.Leu15=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2887090	NM_019109.5(ALG1):c.539+1G>A	ALG1	Single nucleotide variant (splice donor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2886585	NM_019109.5(ALG1):c.209-4T>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2882851	NM_019109.5(ALG1):c.16T>C (p.Leu6=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2878831	NM_019109.5(ALG1):c.609G>C (p.Leu203=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2877498	NM_019109.5(ALG1):c.1188-8C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2877182	NM_019109.5(ALG1):c.962-12T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2876485	NM_019109.5(ALG1):c.954G>C (p.Val318=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2875228	NM_019109.5(ALG1):c.1314G>C (p.Arg438=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2872839	NM_019109.5(ALG1):c.741-8T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2872584	NM_019109.5(ALG1):c.208+14G>A	ALG1, LOC130058384	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GBenign
Select item 2872492	NM_019109.5(ALG1):c.961+16C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2871559	NM_019109.5(ALG1):c.40C>T (p.Leu14=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2871103	NM_019109.5(ALG1):c.539+7G>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2870280	NM_019109.5(ALG1):c.1264-5dup	ALG1, EEF2KMT	Duplication (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GBenign
Select item 2868854	NM_019109.5(ALG1):c.630-18G>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2867649	NM_019109.5(ALG1):c.1264-17del	ALG1, EEF2KMT	Deletion (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2861857	NM_019109.5(ALG1):c.1263+13G>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2861187	NM_019109.5(ALG1):c.739del (p.Arg247fs)	ALG1 (R247fs +1 more)	Deletion (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 2858881	NM_019109.5(ALG1):c.1264-12A>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2858879	NM_019109.5(ALG1):c.393C>T (p.Asn131=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2858202	NM_019109.5(ALG1):c.687G>A (p.Leu229=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2857535	NM_019109.5(ALG1):c.961+14C>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign

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