ClinVar for MedGen (Select 6643) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 255

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065459	NM_002863.5(PYGL):c.1902_1914dup (p.Ser639fs)	PYGL (S605fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 3064706	NM_002863.5(PYGL):c.1240-2A>G	PYGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 3064702	NM_002863.5(PYGL):c.1220dup (p.Asn408fs)	PYGL (N374fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 3018402	NM_002863.5(PYGL):c.661-20G>C	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2973802	NM_002863.5(PYGL):c.1715A>G (p.His572Arg)	PYGL (H538R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2971675	NM_002863.5(PYGL):c.390T>C (p.Ala130=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2912801	NM_002863.5(PYGL):c.166C>T (p.Leu56=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2910567	NM_002863.5(PYGL):c.1925A>C (p.Lys642Thr)	PYGL (K608T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2889116	NM_002863.5(PYGL):c.1970-7C>G	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GConflicting classifications of pathogenicity
Select item 2835449	NM_002863.5(PYGL):c.592A>C (p.Met198Leu)	PYGL (M198L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2819494	NM_002863.5(PYGL):c.2042A>G (p.Lys681Arg)	PYGL (K647R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2815716	NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)	PYGL (K410* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GPathogenic
Select item 2800997	NM_002863.5(PYGL):c.2163T>C (p.Ala721=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2795849	NM_002863.5(PYGL):c.2502G>A (p.Lys834=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2772981	NM_002863.5(PYGL):c.1605C>T (p.Leu535=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2736111	NM_002863.5(PYGL):c.229_231del (p.Asp77del)	PYGL (D77del)	Deletion (inframe_deletion)	Glycogen storage disease, type VI	GUncertain significance
Select item 2727646	NM_002863.5(PYGL):c.1252T>C (p.Leu418=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2723647	NM_002863.5(PYGL):c.1093-16C>A	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GBenign
Select item 2720734	NM_002863.5(PYGL):c.2181C>T (p.Tyr727=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2716012	NM_002863.5(PYGL):c.825C>T (p.Asn275=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI +1 more	GLikely benign
Select item 2714745	NM_002863.5(PYGL):c.1969+7C>A	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2689848	NM_002863.5(PYGL):c.2446C>T (p.Arg816Ter)	PYGL (R782* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GUncertain significance
Select item 2671688	NM_002863.5(PYGL):c.2178-8_2178-7insT	PYGL	Insertion (intron variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2664176	NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)	PYGL (Y540* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 2627510	NM_002863.5(PYGL):c.528+1G>A	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 2627506	NM_002863.5(PYGL):c.715_716del (p.Val239fs)	PYGL (V205fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 2584882	NM_002863.5(PYGL):c.1286T>A (p.Met429Lys)	PYGL (M429K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2584825	NM_002863.5(PYGL):c.407dup (p.Leu137fs)	PYGL (L103fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 2584811	NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)	PYGL (Q272* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 2442209	NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)	PYGL (E333K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2432902	NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)	PYGL (E121* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 2201561	NM_002863.5(PYGL):c.2447G>A (p.Arg816Gln)	PYGL (R816Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2199430	NM_002863.5(PYGL):c.2380-12T>C	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GBenign
Select item 2195186	NM_002863.5(PYGL):c.1389C>T (p.Ile463=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2194713	NM_002863.5(PYGL):c.660+16G>A	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2191089	NM_002863.5(PYGL):c.2177+17T>C	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2187311	NM_002863.5(PYGL):c.1093-7C>G	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2187008	NM_002863.5(PYGL):c.49C>T (p.Arg17Cys)	PYGL (R17C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2181478	NM_002863.5(PYGL):c.117G>T (p.Thr39=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2163724	NM_002863.5(PYGL):c.1090A>G (p.Lys364Glu)	PYGL (K330E +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2163197	NM_002863.5(PYGL):c.1404-10C>T	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2158167	NM_002863.5(PYGL):c.281G>A (p.Arg94Gln)	PYGL (R94Q)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VI	GUncertain significance
Select item 2148422	NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA	PYGL	Indel (splice donor variant)	Glycogen storage disease, type VI +1 more	GPathogenic
Select item 2140637	NM_002863.5(PYGL):c.1137A>G (p.Thr379=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2106097	NM_002863.5(PYGL):c.528+15T>A	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2080829	NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)	PYGL (L654V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2079091	NM_002863.5(PYGL):c.2313-20T>C	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 2075738	NM_002863.5(PYGL):c.179_197del (p.Val60fs)	PYGL (V60fs)	Deletion (frameshift variant)	Glycogen storage disease, type VI	GPathogenic
Select item 2064013	NM_002863.5(PYGL):c.2544_*12del (p.Ter848CysextTer?)	PYGL	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VI	GUncertain significance
Select item 2057969	NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)	PYGL (Y699H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GConflicting classifications of pathogenicity
Select item 2054483	NM_002863.5(PYGL):c.1365C>T (p.Gly455=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI +1 more	GLikely benign
Select item 2047942	NM_002863.5(PYGL):c.2312+12T>C	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GBenign
Select item 2046541	NM_002863.5(PYGL):c.393A>G (p.Gly131=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI +1 more	GLikely benign
Select item 2018805	NM_002863.5(PYGL):c.1093-16C>T	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1988522	NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)	PYGL (R172* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GPathogenic
Select item 1987284	NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)	PYGL (W216* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GPathogenic
Select item 1981942	NM_002863.5(PYGL):c.1902C>G (p.Asp634Glu)	PYGL (D634E +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1980744	NM_002863.5(PYGL):c.2430G>A (p.Gly810=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1976023	NM_002863.5(PYGL):c.211A>C (p.Thr71Pro)	PYGL (T71P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1941070	NM_002863.5(PYGL):c.1827+19A>G	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1935779	NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)	PYGL (W458* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GPathogenic
Select item 1929536	NM_002863.5(PYGL):c.258C>A (p.Leu86=)	PYGL	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VI	GLikely benign
Select item 1920040	NM_002863.5(PYGL):c.1160G>A (p.Arg387His)	PYGL (R387H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1899758	NM_002863.5(PYGL):c.1403+7C>G	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1899167	NM_002863.5(PYGL):c.2142G>A (p.Met714Ile)	PYGL (M680I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1799526	NM_002863.5(PYGL):c.472T>C (p.Tyr158His)	PYGL (Y124H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 1799525	NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)	PYGL (V828G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 1799524	NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)	PYGL (G661E +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 1799523	NM_002863.5(PYGL):c.198del (p.Arg67fs)	PYGL (R67fs)	Deletion (frameshift variant)	Glycogen storage disease, type VI	GPathogenic
Select item 1799522	NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)	PYGL (G607V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 1722303	NM_002863.5(PYGL):c.1160G>T (p.Arg387Leu)	PYGL (R353L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1705540	NM_002863.5(PYGL):c.777T>A (p.Asn259Lys)	PYGL (N225K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1686118	NM_002863.5(PYGL):c.1404-1G>A	PYGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 1685053	NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)	PYGL (G657R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI +1 more	GUncertain significance
Select item 1655866	NM_002863.5(PYGL):c.1970-15T>A	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI +1 more	GLikely benign
Select item 1649882	NM_002863.5(PYGL):c.1038G>T (p.Ala346=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1645511	NM_002863.5(PYGL):c.24G>A (p.Gln8=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1623526	NM_002863.5(PYGL):c.2070C>T (p.Ile690=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1604166	NM_002863.5(PYGL):c.1668G>A (p.Val556=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1582778	NM_002863.5(PYGL):c.1029T>G (p.Pro343=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1557363	NM_002863.5(PYGL):c.309C>G (p.Leu103=)	PYGL	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VI	GLikely benign
Select item 1555979	NM_002863.5(PYGL):c.1769-15C>T	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1540064	NM_002863.5(PYGL):c.2178-11del	PYGL	Deletion (intron variant)	Glycogen storage disease, type VI	GBenign
Select item 1533379	NM_002863.5(PYGL):c.1827+11T>A	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GBenign
Select item 1532514	NM_002863.5(PYGL):c.660+12_660+33del	PYGL	Deletion (intron variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1524769	NM_002863.5(PYGL):c.329A>T (p.Asp110Val)	PYGL (D110V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VI	GUncertain significance
Select item 1517591	NM_002863.5(PYGL):c.406G>C (p.Gly136Arg)	PYGL (G102R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1517588	NM_002863.5(PYGL):c.607T>G (p.Phe203Val)	PYGL (F169V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1510583	NM_002863.5(PYGL):c.1598G>A (p.Arg533Gln)	PYGL (R499Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1483972	NM_002863.5(PYGL):c.1396A>G (p.Thr466Ala)	PYGL (T432A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1475540	NM_002863.5(PYGL):c.865G>A (p.Gly289Arg)	PYGL (G255R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1474471	NM_002863.5(PYGL):c.1463C>G (p.Thr488Ser)	PYGL (T488S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1470510	NC_000014.8:g.(?_51379727)_(51387805_?)dup	PYGL	Duplication	Glycogen storage disease, type VI	GUncertain significance
Select item 1470202	NM_002863.5(PYGL):c.2341T>C (p.Tyr781His)	PYGL (Y747H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1434570	NM_002863.5(PYGL):c.1006A>G (p.Ile336Val)	PYGL (I336V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1422338	NM_002863.5(PYGL):c.809G>A (p.Arg270Gln)	PYGL (R270Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1420679	NM_002863.5(PYGL):c.743G>A (p.Arg248Gln)	PYGL (R214Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1418533	NM_002863.5(PYGL):c.1195C>G (p.Arg399Gly)	PYGL (R365G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1414437	NM_002863.5(PYGL):c.1731G>C (p.Gln577His)	PYGL (Q577H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1411469	NM_002863.5(PYGL):c.1597C>T (p.Arg533Trp)	PYGL (R533W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance

<< First< Prev

Page of 3