MPI[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 885951	NM_002435.3(MPI):c.-5C>T	MPI	Single nucleotide variant (5 prime UTR variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 553275	NM_002435.3(MPI):c.-1_3del (p.Met1fs)	MPI (M1fs)	Deletion (frameshift variant +2 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 429891	NM_002435.3(MPI):c.1A>G (p.Met1Val)	MPI (M1V)	Single nucleotide variant (missense variant +2 more)	MPI-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2728795	NM_002435.3(MPI):c.6C>G (p.Ala2=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1156850	NM_002435.3(MPI):c.6C>T (p.Ala2=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 793540	NM_002435.3(MPI):c.6C>A (p.Ala2=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 468471	NM_002435.3(MPI):c.7G>A (p.Ala3Thr)	MPI (A3T)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 282926	NM_002435.3(MPI):c.10C>T (p.Pro4Ser)	MPI (P4S)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 554184	NM_002435.3(MPI):c.13C>T (p.Arg5Ter)	MPI (R5*)	Single nucleotide variant (nonsense +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 3202248	NM_002435.3(MPI):c.14G>T (p.Arg5Leu)	MPI (R5L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1466269	NM_002435.3(MPI):c.15_16+5del	MPI	Deletion (splice donor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2780303	NM_002435.3(MPI):c.16+1G>A	MPI	Single nucleotide variant (splice donor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676658	NM_002435.3(MPI):c.16+1G>T	MPI	Single nucleotide variant (splice donor variant)	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 2856920	NM_002435.3(MPI):c.16+7C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1908589	NM_002435.3(MPI):c.16+8A>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 764372	NM_002435.3(MPI):c.16+8A>G	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1453279	NM_002435.3(MPI):c.16+9T>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2693174	NM_002435.3(MPI):c.16+11G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2739077	NM_002435.3(MPI):c.16+13C>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 2962987	NM_002435.3(MPI):c.16+15G>T	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 2828507	NM_002435.3(MPI):c.16+15G>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 682551	NM_002435.3(MPI):c.16+16G>T	MPI	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 2897238	NM_002435.3(MPI):c.16+17G>C	MPI	Single nucleotide variant (intron variant)	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 1326424	NM_002435.3(MPI):c.16+94G>A	MPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254720	NM_002435.3(MPI):c.17-37G>A	MPI	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 506778	NM_002435.3(MPI):c.17-7C>T	MPI	Single nucleotide variant (5 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2094417	NM_002435.3(MPI):c.17-4C>G	MPI	Single nucleotide variant (5 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
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 2676660	NM_002435.3(MPI):c.17-2A>G	MPI	Single nucleotide variant (5 prime UTR variant +2 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 1632871	NM_002435.3(MPI):c.18A>G (p.Val6=)	MPI	Single nucleotide variant (synonymous variant +2 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1529220	NM_002435.3(MPI):c.27T>G (p.Leu9=)	MPI	Single nucleotide variant (synonymous variant +2 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 940345	NM_002435.3(MPI):c.33T>G (p.Cys11Trp)	MPI (C11W)	Single nucleotide variant (missense variant +2 more)	MPI-congenital disorder of glycosylation	GUncertain significance
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 2506279	NM_002435.3(MPI):c.42G>T (p.Gln14His)	MPI (Q14H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2769293	NM_002435.3(MPI):c.43C>T (p.Gln15Ter)	MPI (Q15*)	Single nucleotide variant (nonsense +2 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 2744685	NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)	MPI (Q15fs)	Insertion (frameshift variant +2 more)	MPI-congenital disorder of glycosylation	GPathogenic
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 578568	NM_002435.3(MPI):c.45G>C (p.Gln15His)	MPI (Q15H)	Single nucleotide variant (missense variant +2 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 2676663	NM_002435.3(MPI):c.56_65del (p.Gly19fs)	MPI (G19fs +1 more)	Deletion (frameshift variant +2 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 1569500	NM_002435.3(MPI):c.60G>A (p.Lys20=)	MPI	Single nucleotide variant (synonymous variant +2 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 663264	NM_002435.3(MPI):c.61A>G (p.Met21Val)	MPI (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2772652	NM_002435.3(MPI):c.65del (p.Gly22fs)	MPI (G22fs +1 more)	Deletion (frameshift variant +2 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 758064	NM_002435.3(MPI):c.69C>T (p.Ser23=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1140760	NM_002435.3(MPI):c.78A>G (p.Glu26=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 969962	NM_002435.3(MPI):c.84_88del (p.Arg29fs)	MPI (R29fs +1 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 556580	NM_002435.3(MPI):c.89_113del (p.Leu30fs)	MPI (L10fs +1 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 1083502	NM_002435.3(MPI):c.90G>A (p.Leu30=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1157760	NM_002435.3(MPI):c.91T>C (p.Leu31=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1033919	NM_002435.3(MPI):c.95C>T (p.Ala32Val)	MPI (A32V +1 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 1134265	NM_002435.3(MPI):c.96C>T (p.Ala32=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 370410	NM_002435.3(MPI):c.120del (p.Ile40fs)	MPI (I20fs +1 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 552682	NM_002435.3(MPI):c.121G>A (p.Ala41Thr)	MPI (A41T +1 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
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 1135279	NM_002435.3(MPI):c.123A>G (p.Ala41=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1918818	NM_002435.3(MPI):c.124G>C (p.Glu42Gln)	MPI (E22Q +1 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 2739341	NM_002435.3(MPI):c.126G>A (p.Glu42=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3342453	NM_002435.3(MPI):c.127G>C (p.Asp43His)	MPI (D23H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1119030	NM_002435.3(MPI):c.129C>T (p.Asp43=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 317137	NM_002435.3(MPI):c.132G>A (p.Lys44=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2676661	NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)	MPI	Deletion (nonsense +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 1158428	NM_002435.3(MPI):c.138T>C (p.Tyr46=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2165446	NM_002435.3(MPI):c.140C>G (p.Ala47Gly)	MPI (A47G +1 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
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 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 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 2130463	NM_002435.3(MPI):c.144+7C>T	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1654033	NM_002435.3(MPI):c.144+10G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1050260	NM_002435.3(MPI):c.144+12G>T	MPI	Single nucleotide variant (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 2742600	NM_002435.3(MPI):c.144+15G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1329556	NM_002435.3(MPI):c.144+16T>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 420364	NM_002435.3(MPI):c.144+16_144+20inv	MPI	Inversion (intron variant)	not provided	GLikely benign
Select item 1329704	NM_002435.3(MPI):c.144+18T>A	MPI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 2771299	NM_002435.3(MPI):c.144+20T>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1329546	NM_002435.3(MPI):c.144+20T>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation +1 more	GBenign/Likely 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 885952	NM_002435.3(MPI):c.145-11T>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2758809	NM_002435.3(MPI):c.145-10G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1556599	NM_002435.3(MPI):c.145-9T>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2146030	NM_002435.3(MPI):c.145-5T>C	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 1066765	NM_002435.3(MPI):c.145-1G>C	MPI	Single nucleotide variant (splice acceptor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 370541	NM_002435.3(MPI):c.145-1G>A	MPI	Single nucleotide variant (splice acceptor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 3035984	NM_002435.3(MPI):c.145T>C (p.Leu49=)	MPI	Single nucleotide variant (synonymous variant +1 more)	MPI-related disorder	GLikely benign
Select item 1376774	NM_002435.3(MPI):c.150G>A (p.Trp50Ter)	MPI (W30* +1 more)	Single nucleotide variant (nonsense +1 more)	MPI-congenital disorder of glycosylation	GPathogenic
Select item 1124452	NM_002435.3(MPI):c.156G>A (p.Gly52=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 2083063	NM_002435.3(MPI):c.159T>C (p.Thr53=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 188967	NM_002435.3(MPI):c.166dup (p.Arg56fs)	MPI (R36fs +2 more)	Duplication (frameshift variant)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1111191	NM_002435.3(MPI):c.162C>T (p.His54=)	MPI	Single nucleotide variant (synonymous variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 3051870	NM_002435.3(MPI):c.163C>T (p.Pro55Ser)	MPI (P35S +2 more)	Single nucleotide variant (missense variant)	MPI-related disorder	GUncertain significance
Select item 851479	NM_002435.3(MPI):c.166C>T (p.Arg56Ter)	MPI (R36* +2 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 966402	NM_002435.3(MPI):c.167G>A (p.Arg56Gln)	MPI (R6Q +2 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GUncertain significance

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