"Natera, Inc."[submitter] AND "PYGM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 950481	NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)	PYGM (R744C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95297	NM_005609.4(PYGM):c.2447G>A (p.Arg816His)	PYGM (R816H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 953980	NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)	PYGM (S813P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 305264	NM_005609.4(PYGM):c.2412G>A (p.Arg804=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 878936	NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)	PYGM (T799M +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	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 195499	NM_005609.4(PYGM):c.2382C>T (p.Asn794=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 652494	NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys)	PYGM (Y704C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 305267	NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp)	PYGM (R771W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 305268	NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)	PYGM (N764D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 669400	NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)	PYGM (I674M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 305269	NM_005609.4(PYGM):c.2268C>T (p.Pro756=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
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 992134	NM_005609.4(PYGM):c.2204G>A (p.Arg735His)	PYGM (R647H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 992135	NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)	PYGM (N640D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449668	NM_005609.4(PYGM):c.2178-1G>A	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 305270	NM_005609.4(PYGM):c.2177+7G>A	PYGM	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 992136	NM_005609.4(PYGM):c.2143C>A (p.Arg715=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GUncertain significance
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 992137	NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys)	PYGM (E615K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 658611	NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)	PYGM (G607R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GPathogenic
Select item 573482	NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)	PYGM (M693T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GUncertain significance
Select item 992138	NM_005609.4(PYGM):c.2047A>G (p.Met683Val)	PYGM (M595V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 194748	NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	PYGM (A670V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 95295	NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)	PYGM (L653V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 760684	NM_005609.4(PYGM):c.1926T>C (p.Arg642=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 449805	NM_005609.4(PYGM):c.1925G>A (p.Arg642His)	PYGM (R642H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 281045	NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)	PYGM (R642C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 282583	NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)	PYGM (R640C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 496875	NM_005609.4(PYGM):c.1888G>A (p.Val630Met)	PYGM (V630M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1179912	NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr)	PYGM (D541Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259833	NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)	PYGM (V624I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
Select item 877372	NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)	PYGM (I620T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 95294	NM_005609.4(PYGM):c.1827+7A>G	PYGM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 291069	NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)	PYGM (N596S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877373	NM_005609.4(PYGM):c.1769-7T>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 194389	NM_005609.4(PYGM):c.1768+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	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 992139	NM_005609.4(PYGM):c.1629G>A (p.Lys543=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GUncertain significance
Select item 992140	NM_005609.4(PYGM):c.1620+6G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GUncertain significance
Select item 432455	NM_005609.4(PYGM):c.1620+3G>T	PYGM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 95293	NM_005609.4(PYGM):c.1569C>G (p.Leu523=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 194233	NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)	PYGM (I513V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 386091	NM_005609.4(PYGM):c.1527G>T (p.Gly509=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 972013	NM_005609.4(PYGM):c.1520G>A (p.Arg507His)	PYGM (R419H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 95292	NM_005609.4(PYGM):c.1494C>T (p.Pro498=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +2 more	GBenign
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 570557	NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)	PYGM (K479R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 424032	NM_005609.4(PYGM):c.1433A>G (p.His478Arg)	PYGM (H478R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 761821	NM_005609.4(PYGM):c.1395G>A (p.Lys465=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 992142	NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)	PYGM (E374K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 640074	NM_005609.4(PYGM):c.1357G>A (p.Val453Ile)	PYGM (V365I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 546103	NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	PYGM (G449R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 451844	NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)	PYGM (A448T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GUncertain significance
Select item 305271	NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)	PYGM (I447L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GLikely benign
Select item 992143	NM_005609.4(PYGM):c.1247C>T (p.Ala416Val)	PYGM (A328V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 95289	NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)	PYGM (R414G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GBenign
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 720321	NM_005609.4(PYGM):c.1239+9G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 305274	NM_005609.4(PYGM):c.1239+8C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
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 193681	NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	PYGM (N413Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992144	NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)	PYGM (E318K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 509669	NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 193682	NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)	PYGM (T395M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 992145	NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys)	PYGM (W300C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
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 556443	NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)	PYGM (N377Y +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GConflicting classifications of pathogenicity
Select item 992146	NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)	PYGM (T288A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 719046	NM_005609.4(PYGM):c.1110G>A (p.Val370=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 203394	NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	PYGM (A365V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
Select item 259829	NM_005609.4(PYGM):c.1092+6dup	PYGM	Duplication (intron variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
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 285213	NM_005609.4(PYGM):c.1083C>T (p.Asp361=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 711512	NM_005609.4(PYGM):c.999+9C>T	PYGM	Single nucleotide variant (intron variant)	PYGM-related disorder +1 more	GLikely benign
Select item 966843	NM_005609.4(PYGM):c.982G>C (p.Asp328His)	PYGM (D328H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 841867	NM_005609.4(PYGM):c.967G>T (p.Val323Leu)	PYGM (V235L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 738831	NM_005609.4(PYGM):c.951C>T (p.Phe317=)	PYGM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 992147	NM_005609.4(PYGM):c.928C>T (p.Arg310Cys)	PYGM (R222C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 198831	NM_005609.4(PYGM):c.924C>T (p.Ile308=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
Select item 305277	NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)	PYGM (R293W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
Select item 1065967	NM_005609.4(PYGM):c.855+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 167552	NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	PYGM (N283S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
Select item 546669	NM_005609.4(PYGM):c.818C>T (p.Ala273Val)	PYGM (A273V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 188824	NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	PYGM (R270* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 990052	NM_005609.4(PYGM):c.780C>T (p.Val260=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 451964	NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)	PYGM (N259S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 573495	NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)	PYGM (W245C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 388280	NM_005609.4(PYGM):c.723C>T (p.Thr241=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +2 more	GLikely benign
Select item 731880	NM_005609.4(PYGM):c.681C>T (p.Tyr227=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 990053	NM_005609.4(PYGM):c.667C>G (p.Leu223Val)	PYGM (L135V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 95300	NM_005609.4(PYGM):c.661-5C>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V +1 more	GBenign/Likely benign
Select item 990054	NM_005609.4(PYGM):c.661-599G>T	PYGM	Single nucleotide variant (intron variant)	PYGM-related disorder	GLikely benign

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