ClinVar for MedGen (Select 462104) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246935	NC_000003.11:g.(?_148709428)_(148709454_?)del	GYG1	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 2953065	NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)	GYG1 (Q164*)	Single nucleotide variant (nonsense)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2952529	NM_004130.4(GYG1):c.240G>A (p.Leu80=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2952434	NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)	GYG1 (L74*)	Single nucleotide variant (nonsense)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2950674	NM_004130.4(GYG1):c.234A>G (p.Pro78=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2950028	NM_004130.4(GYG1):c.880-17T>C	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2949894	NM_004130.4(GYG1):c.93dup (p.Thr32fs)	GYG1 (T32fs)	Duplication (frameshift variant)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2940837	NM_004130.4(GYG1):c.144-16G>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2940275	NM_004130.4(GYG1):c.814T>C (p.Ser272Pro)	GYG1 (S272P)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2938241	NM_004130.4(GYG1):c.201C>A (p.Gly67=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2936110	NM_004130.4(GYG1):c.105G>A (p.Leu35=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2935601	NM_004130.4(GYG1):c.482-1G>C	GYG1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease XV +1 more	GLikely pathogenic
Select item 2935204	NM_004130.4(GYG1):c.555T>C (p.Phe185=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2935143	NM_004130.4(GYG1):c.829-5T>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2934233	NM_004130.4(GYG1):c.705C>T (p.Ala235=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2933611	NM_004130.4(GYG1):c.590A>G (p.Tyr197Cys)	GYG1 (Y197C)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2933376	NM_004130.4(GYG1):c.609-15dup	GYG1	Duplication (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2931161	NM_004130.4(GYG1):c.144-11T>G	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2929759	NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)	GYG1 (W128*)	Single nucleotide variant (nonsense)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2927986	NM_004130.4(GYG1):c.657A>G (p.Pro219=)	GYG1	Single nucleotide variant (intron variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2927980	NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)	GYG1 (Y282*)	Insertion (nonsense +1 more)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2926801	NM_004130.4(GYG1):c.108C>T (p.Val36=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2926234	NM_004130.4(GYG1):c.765C>T (p.Thr255=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2926005	NM_004130.4(GYG1):c.26dup (p.Thr10fs)	GYG1 (T10fs)	Duplication (frameshift variant)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2924388	NM_004130.4(GYG1):c.25C>T (p.Leu9=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2923859	NM_004130.4(GYG1):c.738C>T (p.Leu246=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2637494	NM_004130.4(GYG1):c.7+2T>C	GYG1, LOC129937737	Single nucleotide variant (splice donor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 2200336	NM_004130.4(GYG1):c.769G>A (p.Val257Ile)	GYG1 (V257I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2197883	NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)	GYG1 (D346Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2196052	NM_004130.4(GYG1):c.183A>G (p.Val61=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2195478	NM_004130.4(GYG1):c.332T>C (p.Ile111Thr)	GYG1 (I111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2186267	NM_004130.4(GYG1):c.429T>C (p.Val143=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2183486	NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)	GYG1 (E294Q +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 2172787	NM_004130.4(GYG1):c.672T>C (p.Tyr224=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2172764	NM_004130.4(GYG1):c.482G>A (p.Gly161Asp)	GYG1 (G161D)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2169617	NM_004130.4(GYG1):c.7+17C>G	GYG1, LOC129937737	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2163192	NM_004130.4(GYG1):c.597G>A (p.Pro199=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2162754	NM_004130.4(GYG1):c.916G>T (p.Gly306Trp)	GYG1 (L215F +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2159308	NM_004130.4(GYG1):c.375C>T (p.Asp125=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2153227	NM_004130.4(GYG1):c.880-7T>C	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2146741	NM_004130.4(GYG1):c.491A>G (p.Gln164Arg)	GYG1 (Q164R)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2145171	NM_004130.4(GYG1):c.633G>A (p.Val211=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2140867	NM_004130.4(GYG1):c.609-13G>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2130752	NM_004130.4(GYG1):c.318+20T>G	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2129738	NM_004130.4(GYG1):c.597G>T (p.Pro199=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2125246	NM_004130.4(GYG1):c.501G>A (p.Leu167=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2113826	NM_004130.4(GYG1):c.953C>T (p.Ser318Leu)	GYG1 (R228W +2 more)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2093928	NM_004130.4(GYG1):c.56C>T (p.Ala19Val)	GYG1 (A19V)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2087638	NM_004130.4(GYG1):c.879+14A>G	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 2084267	NM_004130.4(GYG1):c.318+6T>A	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2081385	NC_000003.12:g.148996742del	GYG1	Deletion	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2079553	NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)	GYG1 (L84P)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 2079311	NM_004130.4(GYG1):c.272C>T (p.Ser91Leu)	GYG1 (S91L)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2077016	NM_004130.4(GYG1):c.411C>T (p.Phe137=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2076470	NM_004130.4(GYG1):c.851T>G (p.Leu284Arg)	GYG1 (L284R)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2064028	NM_004130.4(GYG1):c.8-13T>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2062490	NM_004130.4(GYG1):c.440A>G (p.Asn147Ser)	GYG1 (N147S)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2052606	NM_004130.4(GYG1):c.954G>A (p.Ser318=)	GYG1 (R228Q)	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2052125	NM_004130.4(GYG1):c.875G>C (p.Arg292Thr)	GYG1 (R292T)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2050904	NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)	GYG1 (A39T)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 2048341	NM_004130.4(GYG1):c.352_353del (p.Glu118fs)	GYG1 (E118fs)	Microsatellite (frameshift variant)	Glycogen storage disease XV +1 more	GPathogenic
Select item 2045936	NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)	GYG1 (Q28*)	Single nucleotide variant (nonsense)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 2041802	NM_004130.4(GYG1):c.896C>T (p.Ala299Val)	GYG1 (A282V +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2032993	NM_004130.4(GYG1):c.829-9T>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2023724	NM_004130.4(GYG1):c.668C>T (p.Thr223Ile)	GYG1 (T223I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2023572	NM_004130.4(GYG1):c.261C>T (p.Leu87=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 2020923	NM_004130.4(GYG1):c.934_942del (p.Ala312_Pro314del)	GYG1	Deletion (inframe_deletion +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 2014704	NM_004130.4(GYG1):c.901T>C (p.Ser301Pro)	GYG1 (S284P +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 2007595	NM_004130.4(GYG1):c.844dup (p.Tyr282fs)	GYG1 (Y282fs)	Duplication (frameshift variant +1 more)	Glycogen storage disease XV +1 more	GPathogenic
Select item 1990146	NM_004130.4(GYG1):c.529A>G (p.Thr177Ala)	GYG1 (T177A)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1982897	NM_004130.4(GYG1):c.971G>A (p.Arg324Gln)	GYG1 (D234N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1982680	NM_004130.4(GYG1):c.820G>A (p.Val274Ile)	GYG1 (V274I)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1977751	NM_004130.4(GYG1):c.160G>T (p.Val54Phe)	GYG1 (V54F)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1955602	NM_004130.4(GYG1):c.810C>G (p.Thr270=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1953666	NM_004130.4(GYG1):c.880-19A>G	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1953054	NM_004130.4(GYG1):c.112C>T (p.Leu38Phe)	GYG1 (L38F)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1947569	NM_004130.4(GYG1):c.752A>T (p.Asn251Ile)	GYG1 (N251I)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1946636	NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)	GYG1 (Q4*)	Single nucleotide variant (nonsense)	Glycogen storage disease XV +1 more	GPathogenic
Select item 1944937	NM_004130.4(GYG1):c.442C>A (p.Gln148Lys)	GYG1 (Q148K)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1943737	NM_004130.4(GYG1):c.609-11T>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1941274	NM_004130.4(GYG1):c.5C>G (p.Thr2Arg)	GYG1, LOC129937737 (T2R)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1938555	NM_004130.4(GYG1):c.143+3G>T	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1937752	NM_004130.4(GYG1):c.828+9T>C	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1935545	NM_004130.4(GYG1):c.273G>A (p.Ser91=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1934847	NM_004130.4(GYG1):c.607G>A (p.Val203Met)	GYG1 (V203M)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1910163	NM_004130.4(GYG1):c.599C>T (p.Ala200Val)	GYG1 (A200V)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1906546	NM_004130.4(GYG1):c.143+19C>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1906288	NM_004130.4(GYG1):c.683del (p.Thr228fs)	GYG1 (T228fs)	Deletion (frameshift variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1897320	NM_004130.4(GYG1):c.615T>G (p.Gly205=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1897319	NM_004130.4(GYG1):c.609-10C>T	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1879594	NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)	GYG1 (R216*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1713638	NM_004130.4(GYG1):c.750G>T (p.Trp250Cys)	GYG1 (W250C)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GUncertain significance
Select item 1696244	NM_004130.4(GYG1):c.788A>C (p.Gln263Pro)	GYG1 (Q263P)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 1659419	NM_004130.4(GYG1):c.499C>T (p.Leu167=)	GYG1	Single nucleotide variant (synonymous variant)	Glycogen storage disease XV +1 more	GBenign
Select item 1647878	NM_004130.4(GYG1):c.482-14T>A	GYG1	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1640508	NM_004130.4(GYG1):c.129C>T (p.Val43=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1632432	NM_004130.4(GYG1):c.46G>A (p.Ala16Thr)	GYG1 (A16T)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1622920	NM_004130.4(GYG1):c.144-19C>A	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1619968	NM_004130.4(GYG1):c.879+16A>G	GYG1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign
Select item 1618361	NM_004130.4(GYG1):c.60G>T (p.Leu20=)	GYG1	Single nucleotide variant (synonymous variant)	Polyglucosan body myopathy type 2 +1 more	GLikely benign

<< First< Prev

Page of 3