C0017921[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - 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)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 560377	NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	GAA (G2*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 1640052	NM_000152.5(GAA):c.138C>G (p.Ser46=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
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 1057790	NM_000152.5(GAA):c.206A>G (p.Gln69Arg)	GAA (Q69R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	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 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 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 654482	NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	GAA (C92*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 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 286481	NM_000152.5(GAA):c.317G>A (p.Arg106His)	GAA (R106H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
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 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 +1 more	GUncertain significance
Select item 498074	NM_000152.5(GAA):c.460C>T (p.Arg154Cys)	GAA (R154C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 934505	NM_000152.5(GAA):c.461G>A (p.Arg154His)	GAA (R154H)	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 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 1199276	NM_000152.5(GAA):c.545C>T (p.Thr182Met)	GAA (T182M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 284357	NM_000152.5(GAA):c.546+6C>T	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 188809	NM_000152.5(GAA):c.569G>A (p.Arg190His)	GAA (R190H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +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 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 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 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)	not specified +2 more	GConflicting classifications of pathogenicity
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 1055449	NM_000152.5(GAA):c.683G>A (p.Gly228Asp)	GAA (G228D)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 660473	NM_000152.5(GAA):c.686G>A (p.Arg229His)	GAA (R229H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440838	NM_000152.5(GAA):c.688G>C (p.Val230Leu)	GAA (V230L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 196222	NM_000152.5(GAA):c.688G>A (p.Val230Met)	GAA (V230M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 558393	NM_000152.5(GAA):c.711_712dup (p.Pro238fs)	GAA (P238fs)	Microsatellite (frameshift variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 642648	NM_000152.5(GAA):c.725C>A (p.Ala242Glu)	GAA (A242E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 456434	NM_000152.5(GAA):c.725C>T (p.Ala242Val)	GAA (A242V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 972791	NM_000152.5(GAA):c.743T>C (p.Leu248Pro)	GAA (L248P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 509666	NM_000152.5(GAA):c.762G>A (p.Ser254=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +2 more	GLikely benign
Select item 456438	NM_000152.5(GAA):c.781G>A (p.Ala261Thr)	GAA (A261T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 456439	NM_000152.5(GAA):c.783C>T (p.Ala261=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
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 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 456440	NM_000152.5(GAA):c.851C>G (p.Ala284Gly)	GAA (A284G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 968497	NM_000152.5(GAA):c.857C>T (p.Thr286Met)	GAA (T286M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 572952	NM_000152.5(GAA):c.858G>A (p.Thr286=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 511794	NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT	GAA	Indel (intron variant)	Glycogen storage disease, type II +1 more	GLikely 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 456441	NM_000152.5(GAA):c.862G>A (p.Gly288Ser)	GAA (G288S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 956209	NM_000152.5(GAA):c.871C>T (p.Leu291Phe)	GAA (L291F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 370577	NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	GAA (Y292C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 4036	NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	GAA (G293R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 953728	NM_000152.5(GAA):c.883C>A (p.His295Asn)	GAA (H295N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456444	NM_000152.5(GAA):c.922C>T (p.His308Tyr)	GAA (H308Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 1040582	NM_000152.5(GAA):c.956-3C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance
Select item 555998	NM_000152.5(GAA):c.1048G>A (p.Val350Met)	GAA (V350M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance 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 423925	NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)	GAA (Y354*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1414905	NM_000152.5(GAA):c.1076-3C>T	GAA	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1353052	NM_000152.5(GAA):c.1076-1G>C	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 403712	NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	GAA (P361L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
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 843921	NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)	GAA (Y378C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 966297	NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)	GAA (S379Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	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 198392	NM_000152.5(GAA):c.1147A>G (p.Ile383Val)	GAA (I383V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
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 657348	NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	GAA (D404N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 167112	NM_000152.5(GAA):c.1219T>C (p.Tyr407His)	GAA (Y407H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 991138	NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)	GAA (R411W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 657459	NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)	GAA (R411Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 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 501777	NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)	GAA (E430K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 1519545	NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)	GAA (R436Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 456374	NM_000152.5(GAA):c.1310G>A (p.Arg437His)	GAA (R437H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 281299	NM_000152.5(GAA):c.1320G>T (p.Met440Ile)	GAA (M440I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1397247	NM_000152.5(GAA):c.1326+20G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance
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 1445404	NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)	GAA (S454N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	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 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 657737	NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)	GAA (T469I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 932895	NM_000152.5(GAA):c.1408_1410del (p.Asn470del)	GAA (N470del)	Deletion (inframe_deletion)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 526525	NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)	GAA (N470T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance 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 1583244	NM_000152.5(GAA):c.1437+15C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign
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 1067574	NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)	GAA (P482R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 379593	NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)	GAA (P493L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database

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