ClinVar for PubMed (Select 21484825) - ClinVar

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

Links from PubMed

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2882160	NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)	GAA (R660G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 1483894	NM_000152.5(GAA):c.1376A>T (p.Asp459Val)	GAA (D459V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 1459200	NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn)	GAA (D459N)	Indel (missense variant)	Glycogen storage disease, type II	GPathogenic
Select item 1331497	NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)	GAA (S583F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 1013770	NM_000152.5(GAA):c.569G>T (p.Arg190Leu)	GAA (R190L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GConflicting classifications of pathogenicity
Select item 972803	NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)	GAA (R608*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 972797	NM_000152.5(GAA):c.2041-1G>A	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GPathogenic/Likely pathogenic
Select item 968057	NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)	GAA (R585K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 572725	NM_000152.5(GAA):c.1124G>A (p.Arg375His)	GAA (R375H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 570655	NM_000152.5(GAA):c.1195-8G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II +1 more	GUncertain significance
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 558604	NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	GAA (R660C)	Single nucleotide variant (missense 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 497673	NM_000152.5(GAA):c.1375G>C (p.Asp459His)	GAA (D459H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 371126	NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	GAA (R672Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 370651	NM_000152.5(GAA):c.2242dup (p.Glu748fs)	GAA (E748fs)	Duplication (frameshift 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 290616	NM_000152.5(GAA):c.952A>T (p.Met318Leu)	GAA (M318L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286469	NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	GAA (T614M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
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 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 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 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 280954	NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	GAA (G638W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 280063	NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)	GAA (W746*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 225114	NM_000152.5(GAA):c.854C>G (p.Pro285Arg)	GAA (P285R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 188809	NM_000152.5(GAA):c.569G>A (p.Arg190His)	GAA (R190H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188773	NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	GAA (R672W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic 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 167113	NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)	GAA (T614K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4034	NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	GAA (R854*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4021	NM_000152.5(GAA):c.953T>C (p.Met318Thr)	GAA (M318T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from PubMed

Items: 34