"Baylor Genetics"[submitter] AND "PMM2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 656718	NC_000016.10:g.8797716G>T	PMM2	Single nucleotide variant	PMM2-congenital disorder of glycosylation +1 more	GPathogenic
Select item 1393525	NM_000303.3(PMM2):c.16_22del (p.Pro6fs)	PMM2 (P6fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 188744	NM_000303.3(PMM2):c.24del (p.Cys9fs)	PMM2 (C9fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 7720	NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	PMM2 (C9Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2677895	NM_000303.3(PMM2):c.28del (p.Leu10fs)	PMM2 (L10fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 557455	NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	PMM2 (G15R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553249	NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	PMM2 (G15A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 521048	NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	PMM2 (T18S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 659079	NM_000303.3(PMM2):c.55del (p.Ala19fs)	PMM2 (A19fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2677898	NM_000303.3(PMM2):c.61dup (p.Arg21fs)	PMM2 (R21fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 1284906	NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)	PMM2 (R21G)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 193080	NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	PMM2 (R21W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2677886	NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)	PMM2 (Q22*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 550661	NM_000303.3(PMM2):c.66+1del	PMM2	Deletion (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 632948	NM_000303.3(PMM2):c.66+1G>T	PMM2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2094293	NM_000303.3(PMM2):c.67-1G>C	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1070199	NM_000303.3(PMM2):c.72del (p.Thr25fs)	PMM2 (T25fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2677889	NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)	PMM2 (E27*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 425093	NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)	PMM2 (F31L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 7721	NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)	PMM2 (L32R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 803211	NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)	PMM2 (Q33*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550940	NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	PMM2 (L35*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 632947	NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	PMM2 (Q37*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 555844	NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	PMM2 (G42R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 7725	NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	PMM2 (V44A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2161073	NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)	PMM2 (S47L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379715	NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)	PMM2 (Q53*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929131	NM_000303.3(PMM2):c.160dup (p.Glu54fs)	PMM2 (E54fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic
Select item 2677892	NM_000303.3(PMM2):c.173del (p.Asn58fs)	PMM2 (N58fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 530390	NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	PMM2 (V60L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 929132	NM_000303.3(PMM2):c.178+1G>A	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677902	NM_000303.3(PMM2):c.179-25A>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677899	NM_000303.3(PMM2):c.179-1G>C	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 554804	NM_000303.3(PMM2):c.190del (p.Tyr64fs)	PMM2 (Y64fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 2677890	NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)	PMM2 (Y64*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 7710	NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)	PMM2 (D65Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 2019866	NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)	PMM2 (D65G)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 1966607	NM_000303.3(PMM2):c.196dup (p.Tyr66fs)	PMM2 (Y66fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 1076104	NM_000303.3(PMM2):c.201_202del (p.Phe68fs)	PMM2 (F68fs)	Microsatellite (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 371307	NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	PMM2 (P69S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1724656	NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)	PMM2 (Y76*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 1069079	NM_000303.3(PMM2):c.243_244del (p.Leu82fs)	PMM2 (L82fs)	Microsatellite (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 2677887	NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)	PMM2 (Q85*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 986866	NM_000303.3(PMM2):c.255G>A (p.Gln85=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 417920	NM_000303.3(PMM2):c.255+1G>A	PMM2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 321216	NM_000303.3(PMM2):c.255+2T>C	PMM2	Single nucleotide variant (splice donor variant)	Intellectual disability +3 more	GPathogenic
Select item 2677891	NM_000303.3(PMM2):c.256-1G>A	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 7727	NM_000303.3(PMM2):c.256-1G>C	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 632265	NM_000303.3(PMM2):c.284del (p.Leu95fs)	PMM2 (L95fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 3240154	NM_000303.3(PMM2):c.317A>G (p.Tyr106Cys)	PMM2 (Y106C)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 92800	NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	PMM2 (A108V)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 2677900	NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)	PMM2 (I110fs)	Insertion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 7723	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	PMM2 (P113L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 370776	NM_000303.3(PMM2):c.345dup (p.Arg116fs)	PMM2 (R116fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 3240157	NM_000303.3(PMM2):c.347+2T>C	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2031800	NM_000303.3(PMM2):c.348-2A>G	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1349452	NM_000303.3(PMM2):c.348-2del	PMM2	Deletion (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 7711	NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	PMM2 (F119L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 555161	NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	PMM2 (I120T)	Single nucleotide variant (missense variant)	PMM2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2677901	NM_000303.3(PMM2):c.365del (p.Phe122fs)	PMM2 (F122fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2442175	NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)	PMM2 (F122L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 429981	NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)	PMM2 (R123*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 265255	NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	PMM2 (R123Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 7708	NM_000303.3(PMM2):c.385G>A (p.Val129Met)	PMM2 (V129M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2137778	NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)	PMM2 (P131A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 7718	NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)	PMM2 (I132T)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 370287	NM_000303.3(PMM2):c.414del (p.Glu139fs)	PMM2 (E139fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 550780	NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	PMM2 (R141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type I +4 more	GPathogenic/Likely pathogenic
Select item 197658	NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	PMM2 (F144L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 197659	NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	PMM2 (D148N)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +3 more	GPathogenic/Likely pathogenic
Select item 1066423	NM_000303.3(PMM2):c.448-2A>G	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 966839	NM_000303.3(PMM2):c.448-1_448del	PMM2	Deletion (splice acceptor variant)	PMM2-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 558721	NM_000303.3(PMM2):c.451_454del	PMM2	Microsatellite (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1072868	NM_000303.3(PMM2):c.458_462del (p.Ile153fs)	PMM2 (I153fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 371406	NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	PMM2 (I153T)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 188763	NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	PMM2 (F157S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 7709	NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	PMM2 (R162W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 970523	NM_000303.3(PMM2):c.488_491del (p.Lys163fs)	PMM2 (K163fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2677888	NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)	PMM2 (G175*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2445693	NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)	PMM2 (G175R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 552492	NM_000303.3(PMM2):c.523+3A>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 651739	NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)	PMM2 (F183S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 854121	NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)	PMM2 (W187*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1333359	NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	PMM2 (Y191*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 225443	NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	PMM2 (R194*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2112724	NM_000303.3(PMM2):c.584_585del (p.His195fs)	PMM2 (H195fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 3240155	NM_000303.3(PMM2):c.599_603del (p.Gly200fs)	PMM2 (G200fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 1066355	NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter)	PMM2 (Y201*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 551959	NM_000303.3(PMM2):c.617del (p.Phe206fs)	PMM2 (F206fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 189141	NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	PMM2 (F207S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 92804	NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	PMM2 (G208A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 371325	NM_000303.3(PMM2):c.639+1G>A	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 550704	NM_000303.3(PMM2):c.640-15479C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1090749	NM_000303.3(PMM2):c.640-23A>G	PMM2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632945	NM_000303.3(PMM2):c.640-9T>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 198713	NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	PMM2 (N216S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 7707	NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	PMM2 (N216I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2429140	NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)	PMM2 (D223N)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 2677894	NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)	PMM2 (D223E)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic

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