"PreventionGenetics, part of Exact Sciences"[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 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 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 3030825	NM_000152.5(GAA):c.-311G>C	GAA, LOC130061897	Single nucleotide variant (5 prime UTR variant +1 more)	GAA-related condition	GLikely benign
Select item 3036795	NM_000152.5(GAA):c.-44G>A	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	GAA-related condition	GLikely benign
Select item 3051987	NM_000152.5(GAA):c.-32-17G>A	GAA	Single nucleotide variant (intron variant)	GAA-related condition	GLikely benign
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 255362	NM_000152.5(GAA):c.32G>A (p.Arg11Gln)	GAA (R11Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 456431	NM_000152.5(GAA):c.69C>T (p.Thr23=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 740639	NM_000152.5(GAA):c.240A>G (p.Thr80=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 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 195019	NM_000152.5(GAA):c.318C>T (p.Arg106=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 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 255363	NM_000152.5(GAA):c.547-39T>G	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 255364	NM_000152.5(GAA):c.600C>T (p.Val200=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 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 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 188476	NM_000152.5(GAA):c.676C>G (p.Leu226Val)	GAA (L226V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +5 more	GBenign/Likely benign
Select item 255366	NM_000152.5(GAA):c.693-49C>T	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 456432	NM_000152.5(GAA):c.711G>A (p.Ala237=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GConflicting classifications of pathogenicity
Select item 642648	NM_000152.5(GAA):c.725C>A (p.Ala242Glu)	GAA (A242E)	Single nucleotide variant (missense variant)	not provided +2 more	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 92489	NM_000152.5(GAA):c.858+7_858+8insAGCGGGC	GAA	Insertion (intron variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 3036847	NM_000152.5(GAA):c.858+7_858+8insAGCG	GAA	Insertion (intron variant)	GAA-related condition	GLikely benign
Select item 167111	NM_000152.5(GAA):c.858+30T>C	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255367	NM_000152.5(GAA):c.859-18G>A	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 255368	NM_000152.5(GAA):c.876C>T (p.Tyr292=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 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 382672	NM_000152.5(GAA):c.972G>A (p.Pro324=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GLikely benign
Select item 597962	NM_000152.5(GAA):c.1047C>T (p.Ser349=)	GAA	Single nucleotide variant (synonymous variant)	not provided +3 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 383995	NM_000152.5(GAA):c.1194+17G>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +2 more	GLikely benign
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 657459	NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)	GAA (R411Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity
Select item 456371	NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)	GAA (R422W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 92462	NM_000152.5(GAA):c.1327-18A>G	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 288681	NM_000152.5(GAA):c.1347G>A (p.Ser449=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 281330	NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)	GAA (P451R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
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 456378	NM_000152.5(GAA):c.1437+8G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92464	NM_000152.5(GAA):c.1438-19G>C	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 744401	NM_000152.5(GAA):c.1438-10C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GLikely benign
Select item 456379	NM_000152.5(GAA):c.1438-9G>A	GAA	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 286163	NM_000152.5(GAA):c.1482A>G (p.Thr494=)	GAA	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 255352	NM_000152.5(GAA):c.1551+49C>A	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 255354	NM_000152.5(GAA):c.1599C>T (p.Cys533=)	GAA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 510672	NM_000152.5(GAA):c.1629C>T (p.Tyr543=)	GAA	Single nucleotide variant (synonymous variant)	GAA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 255355	NM_000152.5(GAA):c.1636+43G>T	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 526547	NM_000152.5(GAA):c.1743C>T (p.Ile581=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	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 3032870	NM_000152.5(GAA):c.1770T>C (p.Ala590=)	GAA	Single nucleotide variant (synonymous variant)	GAA-related condition	GLikely benign
Select item 721439	NM_000152.5(GAA):c.1800C>T (p.Arg600=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 499822	NM_000152.5(GAA):c.1860C>T (p.Ser620=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GConflicting classifications of pathogenicity
Select item 506725	NM_000152.5(GAA):c.1872C>T (p.Leu624=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GLikely benign
Select item 3054203	NM_000152.5(GAA):c.1888+8C>G	GAA	Single nucleotide variant (intron variant)	GAA-related condition	GLikely benign
Select item 422879	NM_000152.5(GAA):c.1888+10_1888+11insC	GAA	Insertion (intron variant)	Glycogen storage disease, type II +3 more	GConflicting classifications of pathogenicity
Select item 3054685	NM_000152.5(GAA):c.1888+11A>C	GAA	Single nucleotide variant (intron variant)	GAA-related condition	GLikely benign
Select item 2805530	NM_000152.5(GAA):c.1888+20G>C	GAA	Single nucleotide variant (intron variant)	GAA-related condition +1 more	GLikely benign
Select item 255357	NM_000152.5(GAA):c.1888+21G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 556386	NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)	GAA (D645Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 189172	NM_000152.5(GAA):c.1979G>A (p.Arg660His)	GAA (R660H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92470	NM_000152.5(GAA):c.2040+20A>G	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 285821	NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)	GAA (P684L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 4030	NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	GAA (E689K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity; other
Select item 426278	NM_000152.5(GAA):c.2105G>A (p.Arg702His)	GAA (R702H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 291223	NM_000152.5(GAA):c.2109C>T (p.Tyr703=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GConflicting classifications of pathogenicity
Select item 92473	NM_000152.5(GAA):c.2133A>G (p.Thr711=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 325790	NM_000152.5(GAA):c.2151C>T (p.His717=)	GAA	Single nucleotide variant (synonymous variant)	GAA-related condition +1 more	GConflicting classifications of pathogenicity
Select item 456393	NM_000152.5(GAA):c.2190-4G>A	GAA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 265160	NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	GAA (W746C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 456397	NM_000152.5(GAA):c.2274C>T (p.Ala758=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 92474	NM_000152.5(GAA):c.2331+20G>A	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255359	NM_000152.5(GAA):c.2331+24T>C	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 92475	NM_000152.5(GAA):c.2332-12A>T	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92476	NM_000152.5(GAA):c.2338G>A (p.Val780Ile)	GAA (V780I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 282388	NM_000152.5(GAA):c.2391C>T (p.Ala797=)	GAA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 167115	NM_000152.5(GAA):c.2400C>T (p.Ser800=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GBenign/Likely benign
Select item 92477	NM_000152.5(GAA):c.2446G>A (p.Val816Ile)	GAA (V816I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92478	NM_000152.5(GAA):c.2481+16G>A	GAA	Single nucleotide variant (intron variant)	GAA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 255360	NM_000152.5(GAA):c.2526C>G (p.Ala842=)	GAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1157164	NM_000152.5(GAA):c.2553G>C (p.Gly851=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GLikely benign
Select item 92481	NM_000152.5(GAA):c.2553G>A (p.Gly851=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database

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