"Illumina Laboratory Services, Illumina"[submitter] AND "GAA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178711	NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 162852	NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 890468	NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)	CCDC40, GAA (R1071H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 95880	NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)	CCDC40, GAA (V1114M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 178712	NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +4 more	GBenign
Select item 162853	NM_017950.4(CCDC40):c.*15T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign
Select item 325752	NM_017950.4(CCDC40):c.*149T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 325753	NM_017950.4(CCDC40):c.*186A>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 325758	NM_017950.4(CCDC40):c.*265C>T	GAA, CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 325765	NM_017950.4(CCDC40):c.*654A>C	GAA, CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 325767	NM_000152.5(GAA):c.-338C>G	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 890550	NM_000152.5(GAA):c.-325C>T	GAA, LOC130061897 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 325768	NM_000152.5(GAA):c.-312C>T	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	GAA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 325769	NM_000152.5(GAA):c.-260G>C	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 325770	NM_000152.5(GAA):c.-236C>T	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type II	GUncertain significance
Select item 325771	NM_000152.5(GAA):c.-178G>A	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 384414	NM_000152.5(GAA):c.-116C>T	GAA	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 891115	NM_000152.5(GAA):c.-75C>G	CCDC40, GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 325772	NM_000152.5(GAA):c.-62A>C	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	Glycogen storage disease, type II	GUncertain significance
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +6 more	GPathogenic/Likely pathogenic
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 526554	NM_000152.5(GAA):c.36C>T (p.Leu12=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 325773	NM_000152.5(GAA):c.54C>T (p.Leu18=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GUncertain significance
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 891116	NM_000152.5(GAA):c.196C>T (p.Arg66Trp)	GAA (R66W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
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 573784	NM_000152.5(GAA):c.250G>A (p.Val84Ile)	GAA (V84I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 892321	NM_000152.5(GAA):c.435A>T (p.Glu145Asp)	GAA (E145D)	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 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 280956	NM_000152.5(GAA):c.510C>T (p.Asp170=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
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 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 325780	NM_000152.5(GAA):c.531C>T (p.Asn177=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
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 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 92486	NM_000152.5(GAA):c.596A>G (p.His199Arg)	GAA (H199R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
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 890619	NM_000152.5(GAA):c.630C>T (p.Ser210=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 92487	NM_000152.5(GAA):c.642C>T (p.Ser214=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 288634	NM_000152.5(GAA):c.667C>T (p.Arg223Cys)	GAA (R223C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 286250	NM_000152.5(GAA):c.685C>T (p.Arg229Cys)	GAA (R229C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456428	NM_000152.5(GAA):c.687C>T (p.Arg229=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 282633	NM_000152.5(GAA):c.705G>A (p.Thr235=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GConflicting classifications of pathogenicity
Select item 285366	NM_000152.5(GAA):c.726G>A (p.Ala242=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 325781	NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	GAA (S251L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 325782	NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	GAA (S254L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 891171	NM_000152.5(GAA):c.840C>G (p.Asn280Lys)	GAA (N280K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 188477	NM_000152.5(GAA):c.852G>A (p.Ala284=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 129122	NM_000152.5(GAA):c.858+8G>A	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 325783	NM_000152.5(GAA):c.858+10C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 284775	NM_000152.5(GAA):c.861C>T (p.Pro287=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 188478	NM_000152.5(GAA):c.915G>A (p.Gly305=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 197633	NM_000152.5(GAA):c.917C>T (p.Ser306Leu)	GAA (S306L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92490	NM_000152.5(GAA):c.921A>T (p.Ala307=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92491	NM_000152.5(GAA):c.955+12G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 325784	NM_000152.5(GAA):c.955+14C>A	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 325785	NM_000152.5(GAA):c.1075+12T>G	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 92460	NM_000152.5(GAA):c.1075+13C>T	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 892372	NM_000152.5(GAA):c.1076-15G>C	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 325786	NM_000152.5(GAA):c.1195-15G>A	GAA	Single nucleotide variant (intron variant)	GAA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 92461	NM_000152.5(GAA):c.1203G>A (p.Gln401=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 526553	NM_000152.5(GAA):c.1245G>A (p.Thr415=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 284246	NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)	GAA (R422Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456372	NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)	GAA (P425L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 284497	NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)	GAA (Q429R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 456374	NM_000152.5(GAA):c.1310G>A (p.Arg437His)	GAA (R437H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 325787	NM_000152.5(GAA):c.1320G>C (p.Met440Ile)	GAA (M440I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 286018	NM_000152.5(GAA):c.1332T>C (p.Pro444=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 286268	NM_000152.5(GAA):c.1356C>T (p.Ala452=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 92463	NM_000152.5(GAA):c.1374C>T (p.Tyr458=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 325788	NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)	GAA (R463Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 432217	NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)	GAA (R464S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 889665	NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)	GAA (L476P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 889666	NM_000152.5(GAA):c.1448G>T (p.Gly483Val)	GAA (G483V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 439746	NM_000152.5(GAA):c.1504A>G (p.Met502Val)	GAA (M502V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 506367	NM_000152.5(GAA):c.1552-14C>T	GAA	Single nucleotide variant (intron variant)	GAA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 255353	NM_000152.5(GAA):c.1552-13G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 92466	NM_000152.5(GAA):c.1581G>A (p.Arg527=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 891229	NM_000152.5(GAA):c.1638G>A (p.Gly546=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 92467	NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)	GAA (G576S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity; other
Select item 891230	NM_000152.5(GAA):c.1734C>T (p.Thr578=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 92468	NM_000152.5(GAA):c.1754+12G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 391582	NM_000152.5(GAA):c.1758G>A (p.Ala586=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GConflicting classifications of pathogenicity
Select item 290266	NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)	GAA (R608Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282242	NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	GAA (A610T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 255356	NM_000152.5(GAA):c.1830C>T (p.Ala610=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 194321	NM_000152.5(GAA):c.1889-5C>T	GAA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255358	NM_000152.5(GAA):c.1920T>G (p.Pro640=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 188728	NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)	GAA (D645N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 892419	NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)	GAA (F667L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance

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