PYGL[Gene Name] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 360

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 58308	GRCh38/hg38 14q22.1(chr14:50713909-50954844)x3	ABHD12B, LOC105370489 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1711371	NC_000014.9:g.50858108A>T	PYGL	Single nucleotide variant	not provided	GUncertain significance
Select item 3024734	NM_001206673.2(ABHD12B):c.486+1G>T	ABHD12B, PYGL	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 313317	NM_002863.5(PYGL):c.*129T>C	PYGL	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 882388	NM_002863.5(PYGL):c.*78G>A	PYGL	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type VI	GUncertain significance
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 258828	NM_002863.5(PYGL):c.*11del	PYGL	Deletion (3 prime UTR variant)	not provided +2 more	GBenign
Select item 258829	NM_002863.5(PYGL):c.*7G>C	PYGL	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type VI +2 more	GBenign
Select item 1038832	NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)	PYGL (N847I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 258843	NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser)	PYGL (N845S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely 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 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 313318	NM_002863.5(PYGL):c.2481C>T (p.Asn827=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 632215	NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)	PYGL (Q823* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GConflicting classifications of pathogenicity
Select item 21336	NM_002863.5(PYGL):c.2461T>C (p.Tyr821His)	PYGL (Y821H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	Gnot provided
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 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 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 653702	NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)	PYGL (S775L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic/Likely pathogenic
Select item 258841	NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)	PYGL (I806L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 258840	NM_002863.5(PYGL):c.2380-9T>C	PYGL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 313319	NM_002863.5(PYGL):c.2380-15A>G	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 258839	NM_002863.5(PYGL):c.2380-41G>A	PYGL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229223	NM_002863.5(PYGL):c.2380-59T>C	PYGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292137	NM_002863.5(PYGL):c.2379+131del	PYGL	Deletion (intron variant)	not provided	GBenign
Select item 1259815	NM_002863.5(PYGL):c.2379+129_2379+131del	PYGL	Deletion (intron variant)	not provided	GBenign
Select item 1118065	NM_002863.5(PYGL):c.2358T>C (p.Asp786=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 756228	NM_002863.5(PYGL):c.2343T>C (p.Tyr781=)	PYGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3150210	NM_002863.5(PYGL):c.2335G>A (p.Glu779Lys)	PYGL (E745K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644235	NM_002863.5(PYGL):c.2334C>T (p.Tyr778=)	PYGL	Single nucleotide variant (synonymous variant)	not provided	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 1707226	NM_002863.5(PYGL):c.2313-72A>G	PYGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254907	NM_002863.5(PYGL):c.2313-195C>A	PYGL	Single nucleotide variant (intron variant)	not provided	GBenign
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 2380570	NM_002863.5(PYGL):c.2219A>G (p.Lys740Arg)	PYGL (K740R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 313320	NM_002863.5(PYGL):c.2215C>A (p.Leu739Met)	PYGL (L739M +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 638850	NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser)	PYGL (P737S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1350039	NM_002863.5(PYGL):c.2204C>T (p.Ala735Val)	PYGL (A701V +1 more)	Single nucleotide variant (missense variant)	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 3048004	NM_002863.5(PYGL):c.2187A>G (p.Ala729=)	PYGL	Single nucleotide variant (synonymous variant)	PYGL-related disorder	GLikely benign
Select item 1306880	NM_002863.5(PYGL):c.2185G>A (p.Ala729Thr)	PYGL (A695T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398593	NM_002863.5(PYGL):c.2182G>A (p.Glu728Lys)	PYGL (E728K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
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 791696	NM_002863.5(PYGL):c.2178-4A>C	PYGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 726506	NM_002863.5(PYGL):c.2178-10T>A	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 258838	NM_002863.5(PYGL):c.2178-33dup	PYGL	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1291026	NM_002863.5(PYGL):c.2178-124A>C	PYGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279533	NM_002863.5(PYGL):c.2178-153A>G	PYGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258837	NM_002863.5(PYGL):c.2177+34T>C	PYGL	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 932090	NM_002863.5(PYGL):c.2177+2T>C	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GLikely pathogenic
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 2298353	NM_002863.5(PYGL):c.2155G>A (p.Val719Met)	PYGL (V685M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 194735	NM_002863.5(PYGL):c.2112T>C (p.Ala704=)	PYGL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 570678	NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr)	PYGL (A704T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1007321	NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del)	PYGL	Deletion (inframe_deletion)	Glycogen storage disease, type VI	GUncertain significance
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 1029650	NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg)	PYGL (G695R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
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 655030	NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)	PYGL (G657R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic/Likely pathogenic
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 3027047	NM_002863.5(PYGL):c.2068A>T (p.Ile690Phe)	PYGL (I656F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1054229	NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile)	PYGL (T655I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2080829	NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)	PYGL (L654V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 998113	NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg)	PYGL (G652R +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 21335	NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr)	PYGL (K681T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 21334	NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)	PYGL (S675L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 21333	NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr)	PYGL (S675T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	Gnot provided
Select item 21332	NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys)	PYGL (E673K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 258836	NM_002863.5(PYGL):c.2016C>T (p.Thr672=)	PYGL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1363739	NM_002863.5(PYGL):c.2014A>C (p.Thr672Pro)	PYGL (T638P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1091709	NM_002863.5(PYGL):c.1995G>A (p.Glu665=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI	GLikely benign
Select item 1103947	NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)	PYGL (T627A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1246411	NM_002863.5(PYGL):c.1970-60A>G	PYGL	Single nucleotide variant (intron variant)	not provided	GBenign
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 2148422	NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA	PYGL	Indel (splice donor variant)	Glycogen storage disease, type VI +1 more	GPathogenic
Select item 50885	NM_002863.5(PYGL):c.1969+1_1969+4del	PYGL	Deletion (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 38368	NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]	PYGL	Deletion (splice donor variant +1 more)	Glycogen storage disease, type VI	GPathogenic
Select item 870860	NM_002863.5(PYGL):c.1969+1del	PYGL	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 50886	NM_002863.5(PYGL):c.1964_1969inv (p.Glu655_Val657delinsAlaPhePhe)	PYGL	Inversion (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 194626	NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)	PYGL (Y649* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 313321	NM_002863.5(PYGL):c.1920G>A (p.Lys640=)	PYGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type VI +1 more	GConflicting classifications of pathogenicity
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 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 21331	NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	PYGL (D634H +1 more)	Single nucleotide variant (missense variant)	PYGL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 21330	NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile)	PYGL (N632I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	Gnot provided

<< First< Prev

Page of 4