ClinVar for MedGen (Select 400692) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243800	NC_000015.9:g.(?_75189332)_(75190071_?)del	MPI	Deletion	MPI-congenital disorder of glycosylation	GPathogenic
Select item 3239743	NM_002435.3(MPI):c.634C>T (p.Gln212Ter)	MPI (Q162* +2 more)	Single nucleotide variant (nonsense +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239742	NM_002435.3(MPI):c.287del (p.Phe96fs)	MPI (F46fs +2 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239741	NM_002435.3(MPI):c.1154del (p.Gln385fs)	MPI (Q324fs +3 more)	Deletion (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239740	NM_002435.3(MPI):c.17-2A>C	MPI	Single nucleotide variant (5 prime UTR variant +2 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239739	NM_002435.3(MPI):c.1051G>T (p.Glu351Ter)	MPI (E290* +3 more)	Single nucleotide variant (nonsense +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239738	NM_002435.3(MPI):c.130_133dup (p.Pro45fs)	MPI (P25fs +1 more)	Duplication (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239737	NM_002435.3(MPI):c.991_1053+17del	MPI	Deletion (splice donor variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239736	NM_002435.3(MPI):c.436C>T (p.Gln146Ter)	MPI (Q126* +2 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3239735	NM_002435.3(MPI):c.16+2T>C	MPI	Single nucleotide variant (splice donor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3069177	NM_002435.3(MPI):c.1030G>C (p.Asp344His)	MPI (D283H +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3021831	NM_002435.3(MPI):c.16+17G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3019955	NM_002435.3(MPI):c.346-15C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3018391	NM_002435.3(MPI):c.627G>A (p.Val209=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3017304	NM_002435.3(MPI):c.231G>A (p.Glu77=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3016477	NM_002435.3(MPI):c.777G>A (p.Leu259=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3016439	NM_002435.3(MPI):c.122del (p.Ala41fs)	MPI (A41fs +1 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 3014850	NM_002435.3(MPI):c.987T>C (p.Ser329=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3014286	NM_002435.3(MPI):c.141A>G (p.Ala47=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3013400	NM_002435.3(MPI):c.346-16C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3011037	NM_002435.3(MPI):c.1053+14T>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3008152	NM_002435.3(MPI):c.17-12C>G	MPI	Single nucleotide variant (5 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2997441	NM_002435.3(MPI):c.471T>C (p.Ile157=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2994645	NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)	MPI (Q313* +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2994194	NM_002435.3(MPI):c.630G>A (p.Val210=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2994162	NM_002435.3(MPI):c.670+8_670+9del	MPI	Microsatellite (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2993793	NM_002435.3(MPI):c.145-13C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2992341	NM_002435.3(MPI):c.17-13T>C	MPI	Single nucleotide variant (5 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2992330	NM_002435.3(MPI):c.1188C>G (p.Leu396=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2992098	NM_002435.3(MPI):c.144+2T>C	MPI	Single nucleotide variant (splice donor variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2986554	NM_002435.3(MPI):c.1062C>T (p.Gly354=)	MPI (L285F)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2982834	NM_002435.3(MPI):c.810G>A (p.Leu270=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2978010	NM_002435.3(MPI):c.670+15A>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2974390	NM_002435.3(MPI):c.303C>G (p.Leu101=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2972549	NM_002435.3(MPI):c.774C>T (p.Asn258=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2966784	NM_002435.3(MPI):c.346-12G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2966171	NM_002435.3(MPI):c.844+14C>G	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2963517	NM_002435.3(MPI):c.249C>T (p.Gly83=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2962987	NM_002435.3(MPI):c.16+15G>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2956398	NM_002435.3(MPI):c.16+18dup	MPI	Duplication (intron variant)	MPI-congenital disorder of glycosylation	GBenign
Select item 2955039	NM_002435.3(MPI):c.487+12A>G	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2918242	NM_002435.3(MPI):c.1173A>G (p.Gln391=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2916123	NM_002435.3(MPI):c.487+17G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2915380	NM_002435.3(MPI):c.487+14A>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2914448	NM_002435.3(MPI):c.36G>C (p.Ala12=)	MPI	Single nucleotide variant (synonymous variant +2 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2910780	NM_002435.3(MPI):c.345+17G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2909904	NM_002435.3(MPI):c.144+19T>G	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2909580	NM_002435.3(MPI):c.671-13_671-12del	MPI	Microsatellite (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2908160	NM_002435.3(MPI):c.845-14G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2901337	NM_002435.3(MPI):c.1008A>C (p.Ser336=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2900537	NM_002435.3(MPI):c.830_831del (p.Ala277fs)	MPI (A277fs +3 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2898133	NM_002435.3(MPI):c.792T>C (p.Pro264=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2897769	NM_002435.3(MPI):c.845-14_845-12del	MPI	Microsatellite (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2897686	NM_002435.3(MPI):c.1053+16T>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2897684	NM_002435.3(MPI):c.477C>T (p.Thr159=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2897238	NM_002435.3(MPI):c.16+17G>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2896452	NM_002435.3(MPI):c.144+1G>A	MPI	Single nucleotide variant (splice donor variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2893608	NM_002435.3(MPI):c.315A>T (p.Thr105=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2892260	NM_002435.3(MPI):c.845-15C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2892086	NM_002435.3(MPI):c.671-15C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2881240	NM_002435.3(MPI):c.346-18C>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2880266	NM_002435.3(MPI):c.346-10C>G	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2877933	NM_002435.3(MPI):c.844+10A>G	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2877692	NM_002435.3(MPI):c.1054-17_1054-15del	MPI	Deletion (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2877430	NM_002435.3(MPI):c.144+13C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2875673	NM_002435.3(MPI):c.1224T>A (p.Leu408=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2874100	NM_002435.3(MPI):c.16+18G>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2873478	NM_002435.3(MPI):c.1017C>T (p.Asp339=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2873392	NM_002435.3(MPI):c.1083C>T (p.Val361=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2868223	NM_002435.3(MPI):c.1122G>A (p.Gln374=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2864564	NM_002435.3(MPI):c.914T>A (p.Val305Glu)	MPI (V285E +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 2864202	NM_002435.3(MPI):c.671-8A>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2863794	NM_002435.3(MPI):c.180G>A (p.Lys60=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2861192	NM_002435.3(MPI):c.792dup (p.Gly265fs)	MPI (G215fs +3 more)	Duplication (frameshift variant)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2860517	NM_002435.3(MPI):c.593dup (p.Ser199fs)	MPI (S199fs +2 more)	Duplication (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2859220	NM_002435.3(MPI):c.841G>T (p.Gly281Ter)	MPI (G231* +3 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2858484	NM_002435.3(MPI):c.246G>A (p.Leu82=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2856920	NM_002435.3(MPI):c.16+7C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2854573	NM_002435.3(MPI):c.845-18dup	MPI	Duplication (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2850509	NM_002435.3(MPI):c.488-12G>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2849939	NM_002435.3(MPI):c.834C>T (p.Tyr278=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2846870	NM_002435.3(MPI):c.1053+20G>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2843030	NM_002435.3(MPI):c.16+15G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2839155	NM_002435.3(MPI):c.675T>C (p.Ala225=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2837872	NM_002435.3(MPI):c.44del (p.Gln15fs)	MPI (Q15fs)	Deletion (frameshift variant +2 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2837078	NM_002435.3(MPI):c.507C>T (p.Phe169=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2833874	NM_002435.3(MPI):c.426C>G (p.Leu142=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2833501	NM_002435.3(MPI):c.1098T>G (p.Ser366=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2830951	NM_002435.3(MPI):c.1152C>G (p.Thr384=)	MPI	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2828507	NM_002435.3(MPI):c.16+15G>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2824025	NM_002435.3(MPI):c.222G>A (p.Trp74Ter)	MPI (W54* +2 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2823076	NM_002435.3(MPI):c.370dup (p.Gln124fs)	MPI (Q104fs +2 more)	Duplication (frameshift variant)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2817912	NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)	MPI (L335fs +3 more)	Duplication (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2817891	NM_002435.3(MPI):c.751del (p.Cys251fs)	MPI (C190fs +3 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2815886	NM_002435.3(MPI):c.670+13A>G	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2813645	NM_002435.3(MPI):c.177C>A (p.Ala59=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2813171	NM_002435.3(MPI):c.381G>A (p.Gln127=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2809284	NM_002435.3(MPI):c.471T>A (p.Ile157=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2802835	NM_002435.3(MPI):c.459A>G (p.Pro153=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2802194	NM_002435.3(MPI):c.1058del (p.Pro353fs)	MPI (P333fs +4 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GPathogenic

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