GAA[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2757

<< First< Prev

Page of 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 506864	NM_000152.5(GAA):c.-104C>T	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 669043	NM_000152.5(GAA):c.-103G>A	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 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 389474	NM_000152.5(GAA):c.-37A>G	GAA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 507758	NM_000152.5(GAA):c.-33+17C>T	GAA	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2745468	NM_000152.5(GAA):c.-32-385_143del	GAA	Deletion (splice acceptor variant +1 more)	Glycogen storage disease, type II	GPathogenic
Select item 677625	NM_000152.5(GAA):c.-32-181C>T	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196494	NM_000152.5(GAA):c.-32-84G>A	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 619189	NM_000152.5(GAA):c.-32-18C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease type II, infantile	GUncertain significance
Select item 3051987	NM_000152.5(GAA):c.-32-17G>A	GAA	Single nucleotide variant (intron variant)	GAA-related condition	GLikely benign
Select item 1980660	NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC	GAA	Indel (intron variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 1025528	NM_000152.5(GAA):c.-32-13T>C	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 647475	NC_000017.10:g.(?_78078341)_(78093140_?)dup	GAA	Duplication	Glycogen storage disease, type II	GUncertain significance
Select item 526558	NC_000017.10:g.(?_78078341)_(78093150_?)dup	GAA	Duplication	Glycogen storage disease, type II	GUncertain significance
Select item 526556	NC_000017.11:g.(?_80104542)_(80105914_?)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 1312131	NM_000152.5(GAA):c.-32-5C>G	GAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 507529	NM_000152.5(GAA):c.-32-5C>T	GAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382800	NM_000152.5(GAA):c.-32-4G>A	GAA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2070234	NM_000152.5(GAA):c.-32-3del	GAA	Deletion (intron variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1500801	NM_000152.5(GAA):c.-32-3C>T	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GUncertain significance
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 972817	NM_000152.5(GAA):c.-32-2A>G	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
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 671936	NM_000152.5(GAA):c.-18T>A	GAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 672170	NM_000152.5(GAA):c.-9T>C	GAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 283494	NM_000152.5(GAA):c.-2C>T	GAA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 984798	NM_000152.5(GAA):c.1A>T (p.Met1Leu)	GAA (M1L)	Single nucleotide variant (missense variant +1 more)	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 984802	NM_000152.5(GAA):c.2T>C (p.Met1Thr)	GAA (M1T)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1322969	NM_000152.5(GAA):c.3_4delinsTT (p.Met1_Gly2delinsIleTer)	GAA	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 972816	NM_000152.5(GAA):c.3G>A (p.Met1Ile)	GAA (M1I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
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 500929	NM_000152.5(GAA):c.5G>C (p.Gly2Ala)	GAA (G2A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GUncertain significance
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 1396416	NM_000152.5(GAA):c.16C>T (p.Pro6Ser)	GAA (P6S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 650517	NM_000152.5(GAA):c.17C>A (p.Pro6Gln)	GAA (P6Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	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 593230	NM_000152.5(GAA):c.18G>C (p.Pro6=)	GAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1629636	NM_000152.5(GAA):c.21C>T (p.Pro7=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 2190686	NM_000152.5(GAA):c.24C>T (p.Cys8=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 283636	NM_000152.5(GAA):c.25T>C (p.Ser9Pro)	GAA (S9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015157	NM_000152.5(GAA):c.26C>T (p.Ser9Phe)	GAA (S9F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 808325	NM_000152.5(GAA):c.26C>G (p.Ser9Cys)	GAA (S9C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976296	NM_000152.5(GAA):c.29A>T (p.His10Leu)	GAA (H10L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 2806496	NM_000152.5(GAA):c.30C>T (p.His10=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
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 456418	NM_000152.5(GAA):c.31C>G (p.Arg11Gly)	GAA (R11G)	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 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 526554	NM_000152.5(GAA):c.36C>T (p.Leu12=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2446461	NM_000152.5(GAA):c.40_47del (p.Ala14fs)	GAA (A14fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1433922	NM_000152.5(GAA):c.41C>T (p.Ala14Val)	GAA (A14V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1085752	NM_000152.5(GAA):c.42C>T (p.Ala14=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 797238	NM_000152.5(GAA):c.42C>G (p.Ala14=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
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 1620515	NM_000152.5(GAA):c.48C>T (p.Cys16=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1511437	NM_000152.5(GAA):c.49G>T (p.Ala17Ser)	GAA (A17S)	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 1720069	NM_000152.5(GAA):c.52C>T (p.Leu18Phe)	GAA (L18F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1453228	NM_000152.5(GAA):c.54C>G (p.Leu18=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
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 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 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 2147585	NM_000152.5(GAA):c.58T>A (p.Ser20Thr)	GAA (S20T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 391853	NM_000152.5(GAA):c.59C>G (p.Ser20Cys)	GAA (S20C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596014	NM_000152.5(GAA):c.67A>G (p.Thr23Ala)	GAA (T23A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 858963	NM_000152.5(GAA):c.68C>T (p.Thr23Ile)	GAA (T23I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1389670	NM_000152.5(GAA):c.69C>A (p.Thr23=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +1 more	GLikely benign
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 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 1089549	NM_000152.5(GAA):c.72T>C (p.Ala24=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 497169	NM_000152.5(GAA):c.74C>T (p.Ala25Val)	GAA (A25V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2041901	NM_000152.5(GAA):c.75A>T (p.Ala25=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1616906	NM_000152.5(GAA):c.75A>C (p.Ala25=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1123383	NM_000152.5(GAA):c.75A>G (p.Ala25=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
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 1159520	NM_000152.5(GAA):c.78C>T (p.Leu26=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1587246	NM_000152.5(GAA):c.79C>T (p.Leu27=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 2675792	NM_000152.5(GAA):c.84dup (p.His29fs)	GAA (H29fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2625360	NM_000152.5(GAA):c.81G>A (p.Leu27=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 283323	NM_000152.5(GAA):c.83G>T (p.Gly28Val)	GAA (G28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869033	NM_000152.5(GAA):c.84G>C (p.Gly28=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1123040	NM_000152.5(GAA):c.84G>A (p.Gly28=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 2156327	NM_000152.5(GAA):c.87C>T (p.His29=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1136277	NM_000152.5(GAA):c.91C>T (p.Leu31=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 526535	NM_000152.5(GAA):c.93_95del (p.Leu32del)	GAA (L32del)	Deletion (inframe_deletion)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 757934	NM_000152.5(GAA):c.96C>G (p.Leu32=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1382368	NM_000152.5(GAA):c.98A>G (p.His33Arg)	GAA (H33R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1652835	NM_000152.5(GAA):c.99T>C (p.His33=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 3013254	NM_000152.5(GAA):c.105C>T (p.Phe35=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1637467	NM_000152.5(GAA):c.108G>T (p.Leu36=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1136139	NM_000152.5(GAA):c.108G>A (p.Leu36=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 512288	NM_000152.5(GAA):c.108G>C (p.Leu36=)	GAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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

<< First< Prev

Page of 28