C0017921[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371622	NM_000152.5(GAA):c.-32-3C>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 557429	NM_000152.5(GAA):c.-32-1G>C	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 555040	NM_000152.5(GAA):c.55del (p.Val19fs)	GAA (V19fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 370124	NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	GAA (Q57*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
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 371302	NM_000152.5(GAA):c.236_246del (p.Pro79fs)	GAA (P79fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 557360	NM_000152.5(GAA):c.241C>T (p.Gln81Ter)	GAA (Q81*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 551592	NM_000152.5(GAA):c.258del (p.Asn87fs)	GAA (N87fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 370458	NM_000152.5(GAA):c.281_282del (p.Pro94fs)	GAA (P94fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 188996	NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	GAA (Q115*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 553894	NM_000152.5(GAA):c.352C>T (p.Gln118Ter)	GAA (Q118*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189059	NM_000152.5(GAA):c.365del (p.Met122fs)	GAA (M122fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 556716	NM_000152.5(GAA):c.376del (p.Trp126fs)	GAA (W126fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 552747	NM_000152.5(GAA):c.379_380del (p.Cys127fs)	GAA (C127fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 550713	NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])	GAA	Microsatellite (inframe_insertion)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 371580	NM_000152.5(GAA):c.393del (p.Ser132fs)	GAA (S132fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 550397	NM_000152.5(GAA):c.421C>A (p.Leu141Met)	GAA (L141M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 554096	NM_000152.5(GAA):c.437del (p.Met146fs)	GAA (M146fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 551530	NM_000152.5(GAA):c.448dup (p.Ala150fs)	GAA (A150fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 551306	NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)	GAA	Deletion (inframe_deletion)	Glycogen storage disease, type II	GUncertain significance
Select item 371501	NM_000152.5(GAA):c.471del (p.Thr158fs)	GAA (T158fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 189057	NM_000152.5(GAA):c.525_526del (p.Asn177fs)	GAA (N177fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 554969	NM_000152.5(GAA):c.533G>A (p.Arg178His)	GAA (R178H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 370637	NM_000152.5(GAA):c.546G>T (p.Thr182=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
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 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 188809	NM_000152.5(GAA):c.569G>A (p.Arg190His)	GAA (R190H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
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 552847	NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del)	GAA	Deletion (inframe_deletion)	Glycogen storage disease, type II	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 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 553874	NM_000152.5(GAA):c.692+2T>C	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 558393	NM_000152.5(GAA):c.711_712dup (p.Pro238fs)	GAA (P238fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4035	NM_000152.5(GAA):c.710C>T (p.Ala237Val)	GAA (A237V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 556853	NM_000152.5(GAA):c.716del (p.Leu239fs)	GAA (L239fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 288505	NM_000152.5(GAA):c.736del (p.Leu246fs)	GAA (L246fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic 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 553981	NM_000152.5(GAA):c.755dup (p.Pro253fs)	GAA (P253fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
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 550104	NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)	GAA (Y256fs)	Insertion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 188880	NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)	GAA (Y256fs)	Indel (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 556534	NM_000152.5(GAA):c.768dup (p.Ile257fs)	GAA (I257fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 188806	NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	GAA (E262K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 556117	NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	GAA (P266S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 283894	NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	GAA (R281W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 281052	NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	GAA (P285S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 556789	NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC	GAA	Insertion (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 556352	NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC	GAA	Insertion (intron variant)	Glycogen storage disease, type II	GLikely benign
Select item 370577	NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	GAA (Y292C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188797	NM_000152.5(GAA):c.925G>A (p.Gly309Arg)	GAA (G309R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 558700	NM_000152.5(GAA):c.953T>A (p.Met318Lys)	GAA (M318K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 431990	NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	GAA (P324L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 550355	NM_000152.5(GAA):c.989G>A (p.Trp330Ter)	GAA (W330*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 188841	NM_000152.5(GAA):c.1051del (p.Val351fs)	GAA (V351fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 284093	NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)	GAA (L355P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 370278	NM_000152.5(GAA):c.1076-22T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 370173	NM_000152.5(GAA):c.1076-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551193	NM_000152.5(GAA):c.1076-1G>A	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 555820	NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	GAA (W367R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 370810	NM_000152.5(GAA):c.1099del (p.Trp367fs)	GAA (W367fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 370483	NM_000152.5(GAA):c.1115A>T (p.His372Leu)	GAA (H372L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 283230	NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	GAA (R375L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 189041	NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)	GAA (W376fs)	Indel (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 551351	NM_000152.5(GAA):c.1129G>A (p.Gly377Ser)	GAA (G377S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 370263	NM_000152.5(GAA):c.1143del (p.Ala382fs)	GAA (A382fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 188858	NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)	GAA (Q386*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 557684	NM_000152.5(GAA):c.1165del (p.Glu389fs)	GAA (E389fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 370510	NM_000152.5(GAA):c.1192dup (p.Leu398fs)	GAA (L398fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 371457	NM_000152.5(GAA):c.1193del (p.Leu398fs)	GAA (L398fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 370077	NM_000152.5(GAA):c.1194+2T>C	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 549946	NM_000152.5(GAA):c.1195-1G>A	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 552776	NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)	GAA (D406N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 371235	NM_000152.5(GAA):c.1222A>G (p.Met408Val)	GAA (M408V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 552665	NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu)	GAA	Deletion (inframe_indel)	Glycogen storage disease, type II	GUncertain significance
Select item 550859	NM_000152.5(GAA):c.1280T>C (p.Met427Thr)	GAA (M427T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 552165	NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)	GAA (Q433fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189082	NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	GAA (R437C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 371305	NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	GAA (M439K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 497377	NM_000152.5(GAA):c.1324G>A (p.Val442Met)	GAA (V442M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 554895	NM_000152.5(GAA):c.1326+2T>C	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 556985	NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup)	GAA	Duplication (inframe_insertion)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 188480	NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	GAA (D459N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 430460	NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)	GAA (E460K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 285589	NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	GAA (I468F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 188874	NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)	GAA (E471fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 551295	NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)	GAA (G478R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 555864	NM_000152.5(GAA):c.1437+1G>A	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 526521	NM_000152.5(GAA):c.1438-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189184	NM_000152.5(GAA):c.1438-1G>C	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189007	NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	GAA (W481R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 285157	NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)	GAA (G483R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92465	NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)	GAA (D489N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 556959	NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)	GAA (W499*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189025	NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	GAA (W516*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 555986	NM_000152.5(GAA):c.1551+1G>T	GAA	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 554983	NM_000152.5(GAA):c.1551+1G>C	GAA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550010	NM_000152.5(GAA):c.1552-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 189124	NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	GAA (M519T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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