ClinVar for MedGen (Select 862808) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246041	NC_000006.11:g.(?_83881756)_(84086643_?)del	ME1, PGM3 +1 more	Deletion	Immunodeficiency 23	GPathogenic
Select item 3246040	NC_000006.11:g.(?_83888372)_(83889706_?)del	PGM3	Deletion	Immunodeficiency 23	GPathogenic
Select item 3023731	NM_015599.3(PGM3):c.1518A>G (p.Val506=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 3019667	NM_015599.3(PGM3):c.1198_1202dup (p.Ala402fs)	PGM3 (A402fs +2 more)	Duplication (frameshift variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 3019476	NM_015599.3(PGM3):c.525T>C (p.Tyr175=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 3018127	NM_015599.3(PGM3):c.189G>A (p.Ala63=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 3016238	NM_015599.3(PGM3):c.85C>T (p.Arg29Ter)	PGM3 (R57* +1 more)	Single nucleotide variant (nonsense +2 more)	Immunodeficiency 23	GPathogenic
Select item 3007410	NM_015599.3(PGM3):c.1365+17A>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 3006581	NM_015599.3(PGM3):c.756C>T (p.Asp252=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 3002905	NM_015599.3(PGM3):c.90G>A (p.Thr30=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 3000165	NM_015599.3(PGM3):c.226del (p.Val76fs)	PGM3 (V104fs +1 more)	Deletion (frameshift variant +2 more)	Immunodeficiency 23	GPathogenic
Select item 2992022	NM_015599.3(PGM3):c.750A>T (p.Gly250=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2989862	NM_015599.3(PGM3):c.927T>G (p.Leu309=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2988395	NM_015599.3(PGM3):c.310A>T (p.Arg104Ter)	PGM3 (R132* +2 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23	GPathogenic
Select item 2984847	NM_015599.3(PGM3):c.1365+17A>G	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2983990	NM_015599.3(PGM3):c.1539+16T>G	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2980224	NM_015599.3(PGM3):c.-2-198A>C	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2977511	NM_015599.3(PGM3):c.594T>G (p.Ala198=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2969315	NM_015599.3(PGM3):c.1296G>C (p.Leu432=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2968414	NM_015599.3(PGM3):c.-2-162C>G	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2968388	NM_015599.3(PGM3):c.-2-234A>G	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2967283	NM_015599.3(PGM3):c.945+13G>A	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2967265	NM_015599.3(PGM3):c.1242+10G>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2967039	NM_015599.3(PGM3):c.417T>A (p.Ser139=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2966354	NM_015599.3(PGM3):c.-2-155G>A	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2963591	NM_015599.3(PGM3):c.946-14T>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2960519	NM_015599.3(PGM3):c.946-20G>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2958725	NM_015599.3(PGM3):c.1005A>G (p.Thr335=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2954721	NM_015599.3(PGM3):c.1030-7G>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2919133	NM_015599.3(PGM3):c.1585C>T (p.Gln529Ter)	DOP1A, PGM3 (Q529* +2 more)	Single nucleotide variant (nonsense +2 more)	Immunodeficiency 23	GUncertain significance
Select item 2918570	NM_015599.3(PGM3):c.411A>T (p.Ser137=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2916618	NM_015599.3(PGM3):c.513G>A (p.Thr171=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2915564	NM_015599.3(PGM3):c.243A>G (p.Glu81=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2914049	NM_015599.3(PGM3):c.1129-18T>G	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2910202	NM_015599.3(PGM3):c.787+3A>G	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely pathogenic
Select item 2909893	NM_015599.3(PGM3):c.1119G>T (p.Gly373=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2907867	NM_015599.3(PGM3):c.379del (p.Arg127fs)	PGM3 (R155fs +2 more)	Deletion (frameshift variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 2905265	NM_015599.3(PGM3):c.563_564del (p.Leu187_Ser188insTer)	PGM3	Microsatellite (nonsense +1 more)	Immunodeficiency 23	GPathogenic
Select item 2901514	NM_015599.3(PGM3):c.946-6G>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2899787	NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)	DOP1A, PGM3 (N441fs +3 more)	Duplication (non-coding transcript variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 2898829	NM_015599.3(PGM3):c.384T>C (p.Asp128=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2897416	NM_015599.3(PGM3):c.-2-187G>A	PGM3 (G23E)	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 2896746	NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)	PGM3 (R318fs +2 more)	Microsatellite (frameshift variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 2896122	NM_015599.3(PGM3):c.1035T>A (p.Pro345=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2895936	NM_015599.3(PGM3):c.1131A>T (p.Ala377=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2895391	NM_015599.3(PGM3):c.276C>T (p.Thr92=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2895037	NM_015599.3(PGM3):c.498G>A (p.Val166=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2893402	NM_015599.3(PGM3):c.1398T>C (p.Asp466=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2892343	NM_015599.3(PGM3):c.522A>G (p.Arg174=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2891727	NM_015599.3(PGM3):c.780T>A (p.Pro260=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2889182	NM_015599.3(PGM3):c.1243-4G>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2888196	NM_015599.3(PGM3):c.1165_1166del (p.Gln389fs)	PGM3 (Q417fs +2 more)	Deletion (frameshift variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 2885997	NM_015599.3(PGM3):c.1167A>G (p.Gln389=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2880554	NM_015599.3(PGM3):c.64C>T (p.Gln22Ter)	PGM3 (Q22* +1 more)	Single nucleotide variant (nonsense +2 more)	Immunodeficiency 23	GPathogenic
Select item 2878435	NM_015599.3(PGM3):c.1365+20G>A	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2878136	NM_015599.3(PGM3):c.849T>C (p.Val283=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2877052	NM_015599.3(PGM3):c.66A>G (p.Gln22=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2874488	NM_015599.3(PGM3):c.1450C>T (p.Leu484=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2874107	NM_015599.3(PGM3):c.390-8T>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2872931	NM_015599.3(PGM3):c.-2-204G>A	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2872713	NM_015599.3(PGM3):c.787+12T>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2870199	NM_015599.3(PGM3):c.1242+10G>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2867882	NM_015599.3(PGM3):c.264G>A (p.Glu88=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2867318	NM_015599.3(PGM3):c.1377G>A (p.Arg459=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2865798	NM_015599.3(PGM3):c.1405A>C (p.Arg469=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2863985	NM_015599.3(PGM3):c.1041T>C (p.Tyr347=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2863785	NM_015599.3(PGM3):c.816C>A (p.Cys272Ter)	PGM3 (C300* +2 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23	GPathogenic
Select item 2862490	NM_015599.3(PGM3):c.457+13C>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2862257	NM_015599.3(PGM3):c.1143A>T (p.Thr381=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2861755	NM_015599.3(PGM3):c.1030-6T>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2861234	NM_015599.3(PGM3):c.-2-218G>T	PGM3 (E13*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23	GPathogenic
Select item 2860339	NM_015599.3(PGM3):c.273C>T (p.Ala91=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2858774	NM_015599.3(PGM3):c.458-16T>G	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2858481	NM_015599.3(PGM3):c.939G>T (p.Leu313=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2858478	NM_015599.3(PGM3):c.457+15T>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2857081	NM_015599.3(PGM3):c.1254T>C (p.Asp418=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2855863	NM_015599.3(PGM3):c.1548A>G (p.Ala516=)	DOP1A, PGM3 (R437G)	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2855599	NM_015599.3(PGM3):c.1242+17C>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2854765	NM_015599.3(PGM3):c.492C>T (p.Tyr164=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2854157	NM_015599.3(PGM3):c.1587G>A (p.Gln529=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2853812	NM_015599.3(PGM3):c.999T>C (p.Ser333=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2849716	NM_015599.3(PGM3):c.1275G>C (p.Val425=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2846230	NM_015599.3(PGM3):c.1303T>C (p.Leu435=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2846219	NM_015599.3(PGM3):c.1365+19_1365+23del	PGM3	Deletion (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2845622	NM_015599.3(PGM3):c.150A>G (p.Ser50=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2844534	NM_015599.3(PGM3):c.1485C>T (p.Val495=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2843873	NM_015599.3(PGM3):c.1129-20T>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2842668	NM_015599.3(PGM3):c.249G>A (p.Leu83=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2842444	NM_015599.3(PGM3):c.9A>G (p.Leu3=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2841502	NM_015599.3(PGM3):c.223T>C (p.Leu75=)	PGM3	Single nucleotide variant (non-coding transcript variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2840700	NM_015599.3(PGM3):c.592-4G>A	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2840231	NM_015599.3(PGM3):c.-2-210C>G	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2839660	NM_015599.3(PGM3):c.43_46dup (p.Pro16fs)	PGM3 (P44fs +1 more)	Duplication (frameshift variant +2 more)	Immunodeficiency 23	GPathogenic
Select item 2839320	NM_015599.3(PGM3):c.908del (p.Thr303fs)	PGM3 (T222fs +2 more)	Deletion (frameshift variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 2838623	NM_015599.3(PGM3):c.591+10T>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2838299	NM_015599.3(PGM3):c.1032A>G (p.Val344=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2837661	NM_015599.3(PGM3):c.-2-171T>A	PGM3	Single nucleotide variant (splice donor variant +1 more)	Immunodeficiency 23	GLikely pathogenic
Select item 2837278	NM_015599.3(PGM3):c.1030-13G>C	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2836292	NM_015599.3(PGM3):c.162dup (p.Ser55fs)	PGM3 (S55fs +1 more)	Duplication (frameshift variant +2 more)	Immunodeficiency 23	GPathogenic
Select item 2835851	NM_015599.3(PGM3):c.750A>C (p.Gly250=)	PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign

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