C1865145[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 556169	NM_002435.3(MPI):c.345+1G>A	MPI	Single nucleotide variant (splice donor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 94068	NM_002435.3(MPI):c.345+16C>T	MPI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 549910	NM_002435.3(MPI):c.345+26G>A	MPI	Single nucleotide variant (intron variant)	MPI-congenital disorder of glycosylation	GLikely benign
Select item 370515	NM_002435.3(MPI):c.487+2del	MPI	Deletion (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 371556	NM_002435.3(MPI):c.488-1G>C	MPI	Single nucleotide variant (splice acceptor variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 371308	NM_002435.3(MPI):c.488-1G>A	MPI	Single nucleotide variant (splice acceptor variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 555330	NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)	MPI	Deletion (nonsense +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 558595	NM_002435.3(MPI):c.629del (p.Val210fs)	MPI (V190fs +2 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 370355	NM_002435.3(MPI):c.652A>T (p.Lys218Ter)	MPI (K218* +2 more)	Single nucleotide variant (nonsense +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 14345	NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	MPI (R219Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 370615	NM_002435.3(MPI):c.727C>T (p.Gln243Ter)	MPI (Q243* +3 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 371237	NM_002435.3(MPI):c.740del (p.Gly247fs)	MPI (G186fs +3 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 500792	NM_002435.3(MPI):c.748G>A (p.Gly250Ser)	MPI (G250S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 551638	NM_002435.3(MPI):c.802_803del (p.Met268fs)	MPI (M268fs +3 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 554263	NM_002435.3(MPI):c.844+1G>A	MPI	Single nucleotide variant (splice donor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 553083	NM_002435.3(MPI):c.845-2del	MPI	Deletion (splice acceptor variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 550519	NM_002435.3(MPI):c.880dup (p.Val294fs)	MPI (V233fs +3 more)	Duplication (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 550816	NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del)	MPI	Deletion (inframe_deletion +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 556997	NM_002435.3(MPI):c.991del (p.Glu331fs)	MPI (E331fs +3 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 557056	NM_002435.3(MPI):c.1023del (p.Val342fs)	MPI (V292fs +3 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 557663	NM_002435.3(MPI):c.1053+6_1053+9del	MPI	Microsatellite (splice donor variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 557651	NM_002435.3(MPI):c.1054-34_1054-11del	MPI	Deletion (intron variant)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 552932	NM_002435.3(MPI):c.1054del	MPI	Deletion (splice acceptor variant)	MPI-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 551434	NM_002435.3(MPI):c.1260C>A (p.Cys420Ter)	MPI (C420* +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance

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Items: 32