C0017924[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370492	NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)	PYGM	Single nucleotide variant (stop lost)	Glycogen storage disease, type V	GLikely pathogenic
Select item 558540	NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg)	PYGM	Single nucleotide variant (stop lost)	Glycogen storage disease, type V	GUncertain significance
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 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 371094	NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	PYGM (C784* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 553519	NM_005609.4(PYGM):c.2319del (p.Val774fs)	PYGM (V686fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 554419	NM_005609.4(PYGM):c.2312+3G>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GUncertain significance
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 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 553826	NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del)	PYGM (F751del +1 more)	Microsatellite (inframe_deletion)	Glycogen storage disease, type V	GUncertain significance
Select item 371165	NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)	PYGM (E744fs +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 371180	NM_005609.4(PYGM):c.2136dup (p.Gly713fs)	PYGM (G625fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
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 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 370572	NM_005609.4(PYGM):c.1970-1G>A	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 370996	NM_005609.4(PYGM):c.1969+1G>T	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 371654	NM_005609.4(PYGM):c.1827+1G>C	PYGM	Single nucleotide variant (splice donor 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 188807	NM_005609.4(PYGM):c.1797del (p.Phe599fs)	PYGM (F599fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
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 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 2314	NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)	PYGM (Y574* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GLikely 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 370134	NM_005609.4(PYGM):c.1680del (p.Asn561fs)	PYGM (N561fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely 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 424518	NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)	PYGM (P489S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555068	NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn)	PYGM (T488N +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
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 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 555202	NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup)	PYGM	Duplication (inframe_insertion)	Glycogen storage disease, type V	GUncertain significance
Select item 554926	NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys)	PYGM (R428C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
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 556047	NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)	PYGM (A384V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 556443	NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)	PYGM (N377Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 554437	NM_005609.4(PYGM):c.1093-1G>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 551186	NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)	PYGM (L292P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GConflicting classifications of pathogenicity
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 553848	NM_005609.4(PYGM):c.736T>C (p.Ser246Pro)	PYGM (S246P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 552142	NM_005609.4(PYGM):c.660+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 197777	NM_005609.4(PYGM):c.660G>A (p.Gln220=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +3 more	GConflicting classifications of pathogenicity
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 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 557060	NM_005609.4(PYGM):c.521G>A (p.Gly174Asp)	PYGM (G174D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
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 555738	NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)	PYGM (G159R)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V +1 more	GConflicting classifications of pathogenicity
Select item 371601	NM_005609.4(PYGM):c.445_448del (p.Ala149fs)	PYGM (A149fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type V	GLikely pathogenic
Select item 370481	NM_005609.4(PYGM):c.425-2A>G	PYGM	Single nucleotide variant (intron variant +1 more)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2316	NM_005609.4(PYGM):c.425-26A>G	PYGM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555716	NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	PYGM (R139W)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 189130	NM_005609.4(PYGM):c.407del (p.Gly136fs)	PYGM (G136fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 552845	NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)	PYGM (E124*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type V	GLikely pathogenic
Select item 551567	NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	PYGM (L116P)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 550178	NM_005609.4(PYGM):c.262_263del (p.Leu88fs)	PYGM (L88fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type V	GLikely pathogenic
Select item 370224	NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)	PYGM (Y84fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 139608	NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	PYGM (Y85*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 370614	NM_005609.4(PYGM):c.253del (p.Tyr85fs)	PYGM (Y85fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type V	GLikely pathogenic
Select item 371276	NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	PYGM (Y84*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 554047	NM_005609.4(PYGM):c.219_220del (p.His74fs)	PYGM (H74fs)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 371552	NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)	PYGM (Q73*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GLikely pathogenic
Select item 370250	NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)	PYGM (W68*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 550433	NM_005609.4(PYGM):c.198del (p.Arg67fs)	PYGM (R67fs)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 193317	NM_005609.4(PYGM):c.182G>A (p.Arg61His)	PYGM (R61H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558301	NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup)	PYGM	Microsatellite (inframe_insertion)	Glycogen storage disease, type V	GUncertain significance
Select item 2298	NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	PYGM (R50*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 188778	NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	PYGM (E27fs)	Deletion (frameshift variant)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 551114	NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)	PYGM	Deletion (inframe_deletion)	Glycogen storage disease, type V	GUncertain significance
Select item 371064	NM_005609.4(PYGM):c.13_14del (p.Leu5fs)	PYGM (L5fs)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 553271	NM_005609.4(PYGM):c.1A>T (p.Met1Leu)	PYGM (M1L)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V	GPathogenic
Select item 2309	NM_005609.4(PYGM):c.1A>G (p.Met1Val)	PYGM (M1V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic

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Items: 71