C0017921[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	GAA-related condition +7 more	GPathogenic/Likely pathogenic
Select item 188785	NM_000152.5(GAA):c.1A>G (p.Met1Val)	GAA (M1V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 837058	NM_000152.5(GAA):c.8T>C (p.Val3Ala)	GAA (V3A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 188475	NM_000152.5(GAA):c.11G>A (p.Arg4Lys)	GAA (R4K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499674	NM_000152.5(GAA):c.17C>T (p.Pro6Leu)	GAA (P6L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598195	NM_000152.5(GAA):c.18G>A (p.Pro6=)	GAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456419	NM_000152.5(GAA):c.31C>T (p.Arg11Trp)	GAA (R11W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1058137	NM_000152.5(GAA):c.32G>T (p.Arg11Leu)	GAA (R11L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 582226	NM_000152.5(GAA):c.43G>A (p.Val15Ile)	GAA (V15I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 456423	NM_000152.5(GAA):c.49G>A (p.Ala17Thr)	GAA (A17T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 657111	NM_000152.5(GAA):c.55G>A (p.Val19Met)	GAA (V19M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 290440	NM_000152.5(GAA):c.70G>A (p.Ala24Thr)	GAA (A24T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 593243	NM_000152.5(GAA):c.76C>T (p.Leu26Phe)	GAA (L26F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 570091	NM_000152.5(GAA):c.77T>G (p.Leu26Arg)	GAA (L26R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 579061	NM_000152.5(GAA):c.109C>G (p.Leu37Val)	GAA (L37V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426593	NM_000152.5(GAA):c.118C>T (p.Arg40Ter)	GAA (R40*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 325774	NM_000152.5(GAA):c.131G>T (p.Gly44Val)	GAA (G44V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 961363	NM_000152.5(GAA):c.133T>G (p.Ser45Ala)	GAA (S45A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 794137	NM_000152.5(GAA):c.138C>T (p.Ser46=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 854434	NM_000152.5(GAA):c.167A>T (p.His56Leu)	GAA (H56L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 188903	NM_000152.5(GAA):c.172C>T (p.Gln58Ter)	GAA (Q58*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 325775	NM_000152.5(GAA):c.197G>A (p.Arg66Gln)	GAA (R66Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 659623	NM_000152.5(GAA):c.205C>G (p.Gln69Glu)	GAA (Q69E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 500671	NM_000152.5(GAA):c.212A>G (p.His71Arg)	GAA (H71R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 968345	NM_000152.5(GAA):c.217G>A (p.Gly73Ser)	GAA (G73S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 967437	NM_000152.5(GAA):c.221G>A (p.Arg74His)	GAA (R74H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 567275	NM_000152.5(GAA):c.223C>T (p.Pro75Ser)	GAA (P75S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 580689	NM_000152.5(GAA):c.229G>T (p.Ala77Ser)	GAA (A77S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 938234	NM_000152.5(GAA):c.244T>C (p.Cys82Arg)	GAA (C82R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 290327	NM_000152.5(GAA):c.247G>A (p.Asp83Asn)	GAA (D83N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 282842	NM_000152.5(GAA):c.258dup (p.Asn87fs)	GAA (N87fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 325776	NM_000152.5(GAA):c.257C>G (p.Pro86Arg)	GAA (P86R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1009265	NM_000152.5(GAA):c.260A>G (p.Asn87Ser)	GAA (N87S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 456412	NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	GAA (R89C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 283219	NM_000152.5(GAA):c.266G>A (p.Arg89His)	GAA (R89H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 4020	NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	GAA (D91N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 840817	NM_000152.5(GAA):c.280C>A (p.Pro94Thr)	GAA (P94T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 568474	NM_000152.5(GAA):c.286A>G (p.Lys96Glu)	GAA (K96E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1004192	NM_000152.5(GAA):c.292A>T (p.Ile98Phe)	GAA (I98F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 92483	NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	GAA (C103G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 577338	NM_000152.5(GAA):c.309C>T (p.Cys103=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 892320	NM_000152.5(GAA):c.310G>C (p.Glu104Gln)	GAA (E104Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 498906	NM_000152.5(GAA):c.310G>A (p.Glu104Lys)	GAA (E104K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 1052542	NM_000152.5(GAA):c.314C>T (p.Ala105Val)	GAA (A105V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 971945	NM_000152.5(GAA):c.316C>T (p.Arg106Cys)	GAA (R106C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 286481	NM_000152.5(GAA):c.317G>A (p.Arg106His)	GAA (R106H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 526534	NM_000152.5(GAA):c.319G>A (p.Gly107Ser)	GAA (G107S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 92484	NM_000152.5(GAA):c.324T>C (p.Cys108=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 861916	NM_000152.5(GAA):c.328T>C (p.Tyr110His)	GAA (Y110H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 645805	NM_000152.5(GAA):c.347G>T (p.Gly116Val)	GAA (G116V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 456421	NM_000152.5(GAA):c.359C>G (p.Ala120Gly)	GAA (A120G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 284483	NM_000152.5(GAA):c.362A>G (p.Gln121Arg)	GAA (Q121R)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 972134	NM_000152.5(GAA):c.368G>T (p.Gly123Val)	GAA (G123V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 595995	NM_000152.5(GAA):c.370C>G (p.Gln124Glu)	GAA (Q124E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 325777	NM_000152.5(GAA):c.395G>C (p.Ser132Thr)	GAA (S132T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290299	NM_000152.5(GAA):c.412C>G (p.Leu138Val)	GAA (L138V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 845000	NM_000152.5(GAA):c.420C>A (p.Asn140Lys)	GAA (N140K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456422	NM_000152.5(GAA):c.425G>A (p.Ser142Asn)	GAA (S142N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1003172	NM_000152.5(GAA):c.426C>A (p.Ser142Arg)	GAA (S142R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1043255	NM_000152.5(GAA):c.446C>T (p.Thr149Met)	GAA (T149M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 129121	NM_000152.5(GAA):c.447G>A (p.Thr149=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 665217	NM_000152.5(GAA):c.448G>A (p.Ala150Thr)	GAA (A150T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 934505	NM_000152.5(GAA):c.461G>A (p.Arg154His)	GAA (R154H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 654430	NM_000152.5(GAA):c.487G>A (p.Asp163Asn)	GAA (D163N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 972389	NM_000152.5(GAA):c.488A>T (p.Asp163Val)	GAA (D163V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 842132	NM_000152.5(GAA):c.502C>T (p.Arg168Trp)	GAA (R168W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 325778	NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	GAA (R168Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 325779	NM_000152.5(GAA):c.511G>A (p.Val171Met)	GAA (V171M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 646375	NM_000152.5(GAA):c.514A>G (p.Met172Val)	GAA (M172V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 4033	NM_000152.5(GAA):c.525del (p.Glu176fs)	GAA (E176fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 526537	NM_000152.5(GAA):c.532C>T (p.Arg178Cys)	GAA (R178C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 554969	NM_000152.5(GAA):c.533G>A (p.Arg178His)	GAA (R178H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 851928	NM_000152.5(GAA):c.539A>G (p.His180Arg)	GAA (H180R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 499380	NM_000152.5(GAA):c.545C>G (p.Thr182Arg)	GAA (T182R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 281056	NM_000152.5(GAA):c.546G>C (p.Thr182=)	GAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280955	NM_000152.5(GAA):c.546G>A (p.Thr182=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 285456	NM_000152.5(GAA):c.546+3G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 557811	NM_000152.5(GAA):c.546+5G>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 284357	NM_000152.5(GAA):c.546+6C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 92485	NM_000152.5(GAA):c.547-4C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 1013770	NM_000152.5(GAA):c.569G>T (p.Arg190Leu)	GAA (R190L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 370276	NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)	GAA (Y191*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1052736	NM_000152.5(GAA):c.574G>A (p.Glu192Lys)	GAA (E192K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 286219	NM_000152.5(GAA):c.576G>C (p.Glu192Asp)	GAA (E192D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92486	NM_000152.5(GAA):c.596A>G (p.His199Arg)	GAA (H199R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 386960	NM_000152.5(GAA):c.607C>T (p.Arg203Trp)	GAA (R203W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 848561	NM_000152.5(GAA):c.608G>A (p.Arg203Gln)	GAA (R203Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 287137	NM_000152.5(GAA):c.614C>T (p.Pro205Leu)	GAA (P205L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196223	NM_000152.5(GAA):c.615G>A (p.Pro205=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 652721	NM_000152.5(GAA):c.631G>A (p.Val211Met)	GAA (V211M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456425	NM_000152.5(GAA):c.634G>A (p.Glu212Lys)	GAA (E212K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 92487	NM_000152.5(GAA):c.642C>T (p.Ser214=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 645053	NM_000152.5(GAA):c.643G>A (p.Glu215Lys)	GAA (E215K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 189065	NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	GAA (G219R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 255365	NM_000152.5(GAA):c.658G>T (p.Val220Leu)	GAA (V220L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 290223	NM_000152.5(GAA):c.664G>A (p.Val222Met)	GAA (V222M)	Single nucleotide variant (missense variant)	GAA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 92488	NM_000152.5(GAA):c.668G>A (p.Arg223His)	GAA (R223H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 189188	NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	GAA (R224W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 664582	NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	GAA (R224Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 188476	NM_000152.5(GAA):c.676C>G (p.Leu226Val)	GAA (L226V)	Single nucleotide variant (missense variant)	GAA-related condition +4 more	GBenign/Likely benign

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