"Baylor Genetics"[submitter] AND "PYGM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95297	NM_005609.4(PYGM):c.2447G>A (p.Arg816His)	PYGM (R816H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 526617	NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)	PYGM (W798R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GPathogenic
Select item 2312	NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	PYGM (W798R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1066872	NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)	PYGM (E709fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 553507	NM_005609.4(PYGM):c.2380-1G>A	PYGM	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323509	NM_005609.4(PYGM):c.2379+2_2379+3delinsAT	PYGM	Indel (splice donor variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2678138	NM_005609.4(PYGM):c.2379+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 1074725	NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)	PYGM (V700fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 3240247	NM_005609.4(PYGM):c.2356G>T (p.Glu786Ter)	PYGM (E698* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678136	NM_005609.4(PYGM):c.2313-1G>A	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 430153	NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	PYGM (R771Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2678132	NM_005609.4(PYGM):c.2274del (p.Phe759fs)	PYGM (F671fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 95296	NM_005609.4(PYGM):c.2262del (p.Lys754fs)	PYGM (K754fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 970522	NM_005609.4(PYGM):c.2259dup (p.Lys754fs)	PYGM (K666fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 941671	NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)	PYGM (Y645* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic
Select item 3240239	NM_005609.4(PYGM):c.2181C>G (p.Tyr727Ter)	PYGM (Y639* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GLikely pathogenic
Select item 449668	NM_005609.4(PYGM):c.2178-1G>A	PYGM	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678122	NM_005609.4(PYGM):c.2177+1G>T	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 1467892	NM_005609.4(PYGM):c.2177+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2848436	NM_005609.4(PYGM):c.2146dup (p.Val716fs)	PYGM (V716fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 3240246	NM_005609.4(PYGM):c.2125_2143del (p.Phe709fs)	PYGM (F621fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 555145	NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	PYGM (R715W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 139609	NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	PYGM (F710del +1 more)	Microsatellite (inframe_deletion)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 935807	NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)	PYGM (A616V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2306	NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	PYGM (G598R +1 more)	Single nucleotide variant (missense variant)	PYGM-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2678123	NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)	PYGM (A572D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678131	NM_005609.4(PYGM):c.1969+1G>C	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 1981159	NM_005609.4(PYGM):c.1969+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2302	NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	PYGM (E655K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 433147	NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)	PYGM (R650* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic
Select item 2678145	NM_005609.4(PYGM):c.1828-1G>A	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678124	NM_005609.4(PYGM):c.1828-1G>T	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2313	NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	PYGM	Single nucleotide variant (synonymous variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 592764	NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	PYGM (R602Q +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait +2 more	GConflicting classifications of pathogenicity
Select item 1677203	NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)	PYGM (R514W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 2137130	NM_005609.4(PYGM):c.1769G>A (p.Arg590His)	PYGM (R502H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 371363	NM_005609.4(PYGM):c.1768+2T>G	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 194389	NM_005609.4(PYGM):c.1768+1G>A	PYGM	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 934449	NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)	PYGM (L499P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2307	NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	PYGM (R576* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370762	NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)	PYGM (E573* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 1520760	NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	PYGM (R482Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 807666	NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)	PYGM (R570W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2678142	NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)	PYGM (F458fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 1324978	NM_005609.4(PYGM):c.1620+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 857352	NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)	PYGM (L428fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 370590	NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)	PYGM (D423fs +1 more)	Indel (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678127	NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)	PYGM (W404* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic
Select item 2637160	NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)	PYGM (R402W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 280234	NM_005609.4(PYGM):c.1466dup (p.Arg490fs)	PYGM (R402fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 95291	NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	PYGM (P489R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 2678129	NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)	PYGM (K395fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 992141	NM_005609.4(PYGM):c.1403+5G>A	PYGM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1070312	NM_005609.4(PYGM):c.1403+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GPathogenic
Select item 2678121	NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)	PYGM	Deletion	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 3240242	NM_005609.4(PYGM):c.1379_1383dup (p.Glu462fs)	PYGM (E374fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 95290	NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	PYGM (V456M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1069632	NM_005609.4(PYGM):c.1353dup (p.Ala452fs)	PYGM (A364fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 283418	NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)	PYGM (S450L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 546103	NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	PYGM (G449R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454981	NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)	PYGM (S430fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2678116	NM_005609.4(PYGM):c.1275dup (p.Leu426fs)	PYGM (L338fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 658866	NM_005609.4(PYGM):c.1240-2A>G	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 569514	NM_005609.4(PYGM):c.1239+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GPathogenic
Select item 552430	NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)	PYGM (P398L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 856628	NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	PYGM (L397P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 967512	NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)	PYGM (W300fs +1 more)	Indel (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 430154	NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	PYGM (E383K +1 more)	Single nucleotide variant (missense variant)	PYGM-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2671931	NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala)	PYGM (P294A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1069239	NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)	PYGM (C285* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 3240237	NM_005609.4(PYGM):c.1098G>A (p.Trp366Ter)	PYGM (W278* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic
Select item 203394	NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	PYGM (A365V +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait +2 more	GConflicting classifications of pathogenicity
Select item 3240244	NM_005609.4(PYGM):c.1093-1G>C	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678126	NM_005609.4(PYGM):c.1093-2A>T	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 370110	NM_005609.4(PYGM):c.1092+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678120	NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)	PYGM (E261K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GPathogenic
Select item 2678139	NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)	PYGM (Q249R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GPathogenic
Select item 2678144	NM_005609.4(PYGM):c.999+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678128	NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)	PYGM (E209* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678140	NM_005609.4(PYGM):c.839_843del (p.Leu280fs)	PYGM (L192fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 188824	NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	PYGM (R270* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 2678137	NM_005609.4(PYGM):c.772+2_772+3del	PYGM	Microsatellite (splice donor variant)	Glycogen storage disease, type V	GPathogenic
Select item 2678125	NM_005609.4(PYGM):c.772+2T>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678117	NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)	PYGM (W157* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2678143	NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)	PYGM (D140fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 861525	NM_005609.4(PYGM):c.682del (p.Asp228fs)	PYGM (D140fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2315	NM_005609.4(PYGM):c.661-601G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 1193689	NM_005609.4(PYGM):c.658_659del (p.Gln220fs)	PYGM (Q132fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2976133	NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)	PYGM (Q132* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 95299	NM_005609.4(PYGM):c.645G>A (p.Lys215=)	PYGM	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1452880	NM_005609.4(PYGM):c.632del (p.Ser211fs)	PYGM (S123fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V +1 more	GPathogenic
Select item 2299	NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)	PYGM (G205S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2678135	NM_005609.4(PYGM):c.580del (p.Arg194fs)	PYGM (R106fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 1407712	NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)	PYGM (W95* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 370414	NM_005609.4(PYGM):c.528+2T>G	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 1440473	NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)	PYGM (K170del)	Microsatellite (inframe_deletion)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2678141	NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)	PYGM (Q169*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type V	GPathogenic
Select item 496892	NM_005609.4(PYGM):c.501dup (p.Asn168Ter)	PYGM (N168*)	Duplication (nonsense +1 more)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 551832	NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)	PYGM (R161C)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 2678118	NM_005609.4(PYGM):c.472dup (p.Tyr158fs)	PYGM (Y158fs)	Duplication (frameshift variant +1 more)	Glycogen storage disease, type V	GLikely pathogenic

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