C1865145[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2676661	NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)	MPI	Deletion (nonsense +1 more)	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 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 2676665	NM_002435.3(MPI):c.251C>A (p.Ser84Ter)	MPI (S34* +2 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 1405458	NM_002435.3(MPI):c.251C>G (p.Ser84Ter)	MPI (S34* +2 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 14346	NM_002435.3(MPI):c.305C>T (p.Ser102Leu)	MPI (S102L +2 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676653	NM_002435.3(MPI):c.319del (p.Leu107fs)	MPI (L107fs +2 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 1324729	NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)	MPI (K115* +2 more)	Duplication (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2676654	NM_002435.3(MPI):c.391G>A (p.Asp131Asn)	MPI (D111N +2 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 14347	NM_002435.3(MPI):c.413T>C (p.Met138Thr)	MPI (M138T +2 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676652	NM_002435.3(MPI):c.419T>C (p.Ile140Thr)	MPI (I120T +2 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676667	NM_002435.3(MPI):c.432del (p.Phe145fs)	MPI (F125fs +2 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2503985	NM_002435.3(MPI):c.455G>A (p.Arg152Gln)	MPI (R102Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2676659	NM_002435.3(MPI):c.487+1G>A	MPI	Single nucleotide variant (splice donor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 370515	NM_002435.3(MPI):c.487+2del	MPI	Deletion (splice donor variant)	MPI-related condition +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 2676656	NM_002435.3(MPI):c.530dup (p.His178fs)	MPI (H128fs +2 more)	Duplication (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 843069	NM_002435.3(MPI):c.631del (p.Glu211fs)	MPI (E191fs +2 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic
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 2676657	NM_002435.3(MPI):c.679G>T (p.Gly227Ter)	MPI (G166* +3 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1452353	NM_002435.3(MPI):c.713del (p.Leu238fs)	MPI (L177fs +3 more)	Deletion (frameshift variant)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1456895	NM_002435.3(MPI):c.718C>T (p.Gln240Ter)	MPI (Q220* +3 more)	Single nucleotide variant (nonsense)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2676668	NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)	MPI (Y194C +3 more)	Single nucleotide variant (missense variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676670	NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)	MPI (N212fs +3 more)	Indel (frameshift variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676651	NM_002435.3(MPI):c.844+2T>C	MPI	Single nucleotide variant (splice donor variant)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 834890	NM_002435.3(MPI):c.845-2A>G	MPI	Single nucleotide variant (splice acceptor variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676664	NM_002435.3(MPI):c.875_879dup (p.Val294fs)	MPI (V233fs +3 more)	Duplication (frameshift 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 14349	NM_002435.3(MPI):c.884G>A (p.Arg295His)	MPI (R295H +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676666	NM_002435.3(MPI):c.973del (p.Leu325fs)	MPI (L264fs +3 more)	Deletion (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 1030556	NM_002435.3(MPI):c.992A>C (p.Glu331Ala)	MPI (E281A +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 1368178	NM_002435.3(MPI):c.1022dup (p.Val342fs)	MPI (V292fs +3 more)	Duplication (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2676655	NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)	MPI (D278fs +3 more)	Indel (frameshift variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
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 552932	NM_002435.3(MPI):c.1054del	MPI	Deletion (splice acceptor variant)	MPI-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2582340	NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)	MPI (G293D +4 more)	Single nucleotide variant (nonsense +1 more)	MPI-congenital disorder of glycosylation	GUncertain significance
Select item 1066557	NM_002435.3(MPI):c.1087del (p.Ala363fs)	MPI (A302fs +3 more)	Deletion (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1030555	NM_002435.3(MPI):c.1124G>A (p.Gly375Glu)	MPI (G325E +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676662	NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)	MPI (T315fs +3 more)	Deletion (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 2676669	NM_002435.3(MPI):c.1134del (p.Ile378fs)	MPI (I317fs +3 more)	Deletion (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GLikely pathogenic
Select item 317143	NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)	MPI (G393A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 860729	NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	MPI (I378T +3 more)	Single nucleotide variant (missense variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 218095	NM_002435.3(MPI):c.1253G>A (p.Arg418His)	MPI (R418H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	MPI-congenital disorder of glycosylation	GPathogenic/Likely pathogenic

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Items: 50