ClinVar for OMIM (Select 232200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067900	NM_000151.4(G6PC1):c.352G>C (p.Gly118Arg)	G6PC1 (G118R)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 3065231	NM_000151.4(G6PC1):c.575C>T (p.Ala192Val)	G6PC1 (A192V +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 3024059	NM_000151.4(G6PC1):c.771C>T (p.Pro257=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 3021867	NM_000151.4(G6PC1):c.450C>T (p.Cys150=)	G6PC1 (L125F)	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 3019853	NM_000151.4(G6PC1):c.1003C>T (p.Leu335=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 3019300	NM_000151.4(G6PC1):c.446+19G>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 3001814	NM_000151.4(G6PC1):c.562+25_562+28del	G6PC1	Microsatellite (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 3001187	NM_000151.4(G6PC1):c.230+1G>T	G6PC1	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2999013	NM_000151.4(G6PC1):c.69C>T (p.Tyr23=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2995044	NM_000151.4(G6PC1):c.231-17G>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2992383	NM_000151.4(G6PC1):c.446+19G>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2991872	NM_000151.4(G6PC1):c.957G>A (p.Glu319=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2990317	NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp)	G6PC1 (A56D)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2981356	NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)	G6PC1 (W244*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2977907	NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)	G6PC1 (T255N)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2969773	NM_000151.4(G6PC1):c.446+17G>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2968225	NM_000151.4(G6PC1):c.446+20G>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2917384	NM_000151.4(G6PC1):c.133G>C (p.Val45Leu)	G6PC1 (V45L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2916182	NM_000151.4(G6PC1):c.340+14C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2909101	NM_000151.4(G6PC1):c.562+11A>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2905900	NM_000151.4(G6PC1):c.1020C>T (p.Val340=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2897527	NM_000151.4(G6PC1):c.855G>A (p.Lys285=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2896184	NM_000151.4(G6PC1):c.341-18C>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2894371	NM_000151.4(G6PC1):c.678G>C (p.Leu226=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2890083	NM_000151.4(G6PC1):c.231-20C>G	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2880032	NM_000151.4(G6PC1):c.230+8C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2860082	NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)	G6PC1 (W77*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2858426	NM_000151.4(G6PC1):c.960G>A (p.Leu320=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2856850	NM_000151.4(G6PC1):c.562+19C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2856849	NM_000151.4(G6PC1):c.396A>G (p.Thr132=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2852708	NM_000151.4(G6PC1):c.471G>A (p.Leu157=)	G6PC1 (G132R)	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2850110	NM_000151.4(G6PC1):c.693T>C (p.Gly231=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2845677	NM_000151.4(G6PC1):c.195T>A (p.Ala65=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2845667	NM_000151.4(G6PC1):c.563-8C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2845292	NM_000151.4(G6PC1):c.341-8C>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2844918	NM_000151.4(G6PC1):c.231-7T>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2844621	NM_000151.4(G6PC1):c.918G>A (p.Leu306=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2842078	NM_000151.4(G6PC1):c.341-8C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2835593	NM_000151.4(G6PC1):c.662dup (p.Gly222fs)	G6PC1 (G222fs)	Duplication (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2834737	NM_000151.4(G6PC1):c.633C>T (p.Leu211=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2832753	NM_000151.4(G6PC1):c.1056G>T (p.Pro352=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2830489	NM_000151.4(G6PC1):c.230+9C>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2823142	NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)	G6PC1 (W236G)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2823106	NM_000151.4(G6PC1):c.1023C>T (p.Ile341=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2821689	NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)	G6PC1 (Y23*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2820616	NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu)	G6PC1 (F43L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2814251	NM_000151.4(G6PC1):c.673C>T (p.Leu225=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2813981	NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)	G6PC1 (C245*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2813742	NM_000151.4(G6PC1):c.702C>T (p.Leu234=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2811391	NM_000151.4(G6PC1):c.1042del (p.Val348fs)	G6PC1 (V348fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2805768	NM_000151.4(G6PC1):c.230+16A>G	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2802711	NM_000151.4(G6PC1):c.447-1G>C	G6PC1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2790944	NM_000151.4(G6PC1):c.230+10A>G	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2789352	NM_000151.4(G6PC1):c.340+7G>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2784905	NM_000151.4(G6PC1):c.1004del (p.Leu335fs)	G6PC1 (L335fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2782610	NM_000151.4(G6PC1):c.126C>A (p.Ala42=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2779247	NM_000151.4(G6PC1):c.948C>T (p.Ser316=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2772434	NM_000151.4(G6PC1):c.341-7_356del	G6PC1	Deletion (splice acceptor variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2768567	NM_000151.4(G6PC1):c.1056G>C (p.Pro352=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2763130	NM_000151.4(G6PC1):c.340+9C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2760293	NM_000151.4(G6PC1):c.48A>C (p.Thr16=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2759599	NM_000151.4(G6PC1):c.432G>C (p.Pro144=)	G6PC1 (D119H)	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2759070	NM_000151.4(G6PC1):c.783C>T (p.Leu261=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2758199	NM_000151.4(G6PC1):c.435C>T (p.Thr145=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2757735	NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)	G6PC1 (M5I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2755796	NM_000151.4(G6PC1):c.250C>T (p.Pro84Ser)	G6PC1 (P84S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2751487	NM_000151.4(G6PC1):c.486G>A (p.Val162=)	G6PC1 (A137T)	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2749911	NM_000151.4(G6PC1):c.261G>A (p.Trp87Ter)	G6PC1 (W87*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2747824	NM_000151.4(G6PC1):c.126C>T (p.Ala42=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2745671	NM_000151.4(G6PC1):c.786C>G (p.Leu262=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2739469	NM_000151.4(G6PC1):c.563-18A>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2736588	NM_000151.4(G6PC1):c.462_466del (p.Ile154fs)	G6PC1 (I154fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2734470	NM_000151.4(G6PC1):c.747A>G (p.Glu249=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2733310	NM_000151.4(G6PC1):c.446+20G>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2728583	NM_000151.4(G6PC1):c.98T>A (p.Val33Glu)	G6PC1 (V33E)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2728468	NM_000151.4(G6PC1):c.231-15T>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2721816	NM_000151.4(G6PC1):c.230+13T>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2719519	NM_000151.4(G6PC1):c.325T>C (p.Cys109Arg)	G6PC1 (C109R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2716659	NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)	G6PC1 (F322L)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2708738	NM_000151.4(G6PC1):c.231-10T>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2706278	NM_000151.4(G6PC1):c.792C>T (p.Asn264=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2697288	NM_000151.4(G6PC1):c.810C>G (p.Gly270=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2696661	NM_000151.4(G6PC1):c.147C>T (p.Ile49=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2694510	NM_000151.4(G6PC1):c.57C>T (p.Leu19=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2664192	NM_000151.4(G6PC1):c.155A>T (p.His52Leu)	G6PC1 (H52L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2663832	NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)	G6PC1 (I102K)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2581673	NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)	G6PC1 (R83S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2441598	NM_000151.4(G6PC1):c.338C>T (p.Pro113Leu)	G6PC1 (P113L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2441597	NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)	G6PC1 (W63C)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2436309	NM_000151.4(G6PC1):c.742_745del (p.Pro248fs)	G6PC1 (P248fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2422474	NC_000017.10:g.(?_41052894)_(41056246_?)del	G6PC1	Deletion	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2422473	NC_000017.10:g.(?_41059520)_(41063443_?)dup	G6PC1	Duplication	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2422472	NC_000017.10:g.(?_41061310)_(41061445_?)dup	G6PC1	Duplication	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2422471	NC_000017.10:g.(?_41052894)_(41053143_?)dup	G6PC1	Duplication	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2422470	NC_000017.10:g.(?_41052894)_(41059665_?)del	G6PC1	Deletion	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2422469	NC_000017.10:g.(?_41055928)_(41056246_?)del	G6PC1	Deletion	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2422468	NC_000017.10:g.(?_41052894)_(41063443_?)del	G6PC1	Deletion	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2418026	NM_000151.4(G6PC1):c.1036G>A (p.Ala346Thr)	G6PC1 (A346T)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2198941	NM_000151.4(G6PC1):c.977C>G (p.Ser326Cys)	G6PC1 (S326C)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GUncertain significance
Select item 2197137	NM_000151.4(G6PC1):c.788del (p.Lys263fs)	G6PC1 (K263fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic

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