ClinVar for Gene (Select 5837) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367845	NM_005609.4(PYGM):c.209G>A (p.Arg70His)	PYGM (R70H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367240	NM_005609.4(PYGM):c.1692C>G (p.Phe564Leu)	PYGM (F476L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364936	NM_005609.4(PYGM):c.931C>T (p.Arg311Cys)	PYGM (R223C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362481	NM_005609.4(PYGM):c.613G>T (p.Gly205Cys)	PYGM (G117C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 3339925	NM_005609.4(PYGM):c.407G>T (p.Gly136Val)	PYGM (G136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339678	NM_005609.4(PYGM):c.1629G>T (p.Lys543Asn)	PYGM (K455N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338886	NM_005609.4(PYGM):c.46delinsTT (p.Val16fs)	PYGM (V16fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 3336042	NM_005609.4(PYGM):c.2430C>T (p.Gly810=)	PYGM	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3311887	NM_005609.4(PYGM):c.1775A>G (p.Lys592Arg)	PYGM (K504R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311886	NM_005609.4(PYGM):c.1286T>C (p.Met429Thr)	PYGM (M341T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311885	NM_005609.4(PYGM):c.1811T>C (p.Val604Ala)	PYGM (V604A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311882	NM_005609.4(PYGM):c.1003G>T (p.Ala335Ser)	PYGM (A247S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244789	NC_000011.9:g.(?_64497214)_(64518075_?)del	PYGM, RASGRP2	Deletion	not provided	GPathogenic
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244537	NC_000011.9:g.(?_64517828)_(64523631_?)dup	PYGM	Duplication	Glycogen storage disease, type V	GLikely pathogenic
Select item 3244536	NC_000011.9:g.(?_64520971)_(64526196_?)del	PYGM	Deletion	Glycogen storage disease, type V	GPathogenic
Select item 3244535	NC_000011.9:g.(?_64518135)_(64519387_?)del	PYGM	Deletion	Glycogen storage disease, type V	GPathogenic
Select item 3244534	NC_000011.9:g.(?_64522725)_(64527370_?)del	PYGM	Deletion	Glycogen storage disease, type V	GPathogenic
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 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 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 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 3240241	NM_005609.4(PYGM):c.134del (p.Asn45fs)	PYGM (N45fs)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 3240240	NM_005609.4(PYGM):c.67del (p.Glu23fs)	PYGM (E23fs)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely pathogenic
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 3240238	NM_005609.4(PYGM):c.47_57del (p.Val16fs)	PYGM (V16fs)	Deletion (frameshift variant)	Glycogen storage disease, type V	GLikely 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 3234462	NM_005609.4(PYGM):c.190C>T (p.Leu64Phe)	PYGM (L64F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3150216	NM_005609.4(PYGM):c.99C>G (p.Asn33Lys)	PYGM (N33K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150215	NM_005609.4(PYGM):c.2468G>A (p.Arg823Gln)	PYGM (R823Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150214	NM_005609.4(PYGM):c.184G>A (p.Asp62Asn)	PYGM (D62N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3150212	NM_005609.4(PYGM):c.1456G>C (p.Gly486Arg)	PYGM (G398R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067330	NM_005609.4(PYGM):c.2211T>G (p.Pro737=)	PYGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024970	NM_005609.4(PYGM):c.959G>A (p.Arg320His)	PYGM (R232H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023927	NM_005609.4(PYGM):c.1620+17T>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3023781	NM_005609.4(PYGM):c.2178-16A>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3023653	NM_005609.4(PYGM):c.244-18A>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3021905	NM_005609.4(PYGM):c.880C>T (p.Leu294=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3021900	NM_005609.4(PYGM):c.345+17G>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3021478	NM_005609.4(PYGM):c.2151G>A (p.Glu717=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3019480	NM_005609.4(PYGM):c.1752C>T (p.Val584=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3018786	NM_005609.4(PYGM):c.528+13G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3017629	NM_005609.4(PYGM):c.2398C>A (p.Arg800=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3017078	NM_005609.4(PYGM):c.624G>A (p.Glu208=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3016459	NM_005609.4(PYGM):c.1827+17C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3012951	NM_005609.4(PYGM):c.1371G>T (p.Ala457=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3009241	NM_005609.4(PYGM):c.2379+11C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3008962	NM_005609.4(PYGM):c.660+18G>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3008568	NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)	PYGM (G607W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 3004049	NM_005609.4(PYGM):c.106C>T (p.Leu36=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3003626	NM_005609.4(PYGM):c.244-9T>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3002705	NM_005609.4(PYGM):c.1764C>T (p.Tyr588=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3002564	NM_005609.4(PYGM):c.114C>T (p.Phe38=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3002412	NM_005609.4(PYGM):c.999+16A>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3001563	NM_005609.4(PYGM):c.1828-5C>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 3001316	NM_005609.4(PYGM):c.1365C>G (p.Gly455=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2998697	NM_005609.4(PYGM):c.2244T>C (p.Ser748=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2997899	NM_005609.4(PYGM):c.579C>T (p.Ala193=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2996328	NM_005609.4(PYGM):c.856-17C>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2995430	NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)	PYGM (Q578* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GPathogenic
Select item 2995190	NM_005609.4(PYGM):c.1275G>T (p.Arg425=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2994118	NM_005609.4(PYGM):c.1093-18G>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2992870	NM_005609.4(PYGM):c.424+8G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2991591	NM_005609.4(PYGM):c.667C>T (p.Leu223=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2990435	NM_005609.4(PYGM):c.1206G>A (p.Gln402=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2989683	NM_005609.4(PYGM):c.243+14G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2989480	NM_005609.4(PYGM):c.243+14G>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2987358	NM_005609.4(PYGM):c.1768+17C>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2984242	NM_005609.4(PYGM):c.409C>T (p.Leu137=)	PYGM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type V	GLikely benign
Select item 2983674	NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)	PYGM (I468V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2983265	NM_005609.4(PYGM):c.855+14T>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2983102	NM_005609.4(PYGM):c.346-5T>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2981762	NM_005609.4(PYGM):c.213G>T (p.Thr71=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2980908	NM_005609.4(PYGM):c.1519-13C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2980403	NM_005609.4(PYGM):c.2127C>T (p.Phe709=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2977450	NM_005609.4(PYGM):c.456C>G (p.Gly152=)	PYGM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type V	GLikely benign
Select item 2976165	NM_005609.4(PYGM):c.856-6C>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
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 2975052	NM_005609.4(PYGM):c.1403+15C>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2974394	NM_005609.4(PYGM):c.1515T>C (p.Ala505=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2970502	NM_005609.4(PYGM):c.642C>T (p.Ala214=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2967954	NM_005609.4(PYGM):c.1768+13C>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2957803	NM_005609.4(PYGM):c.346-13C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2955702	NM_005609.4(PYGM):c.856-9T>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2955546	NM_005609.4(PYGM):c.1776G>A (p.Lys592=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2955496	NM_005609.4(PYGM):c.2307T>C (p.His769=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2920442	NM_005609.4(PYGM):c.2312+17G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2920134	NM_005609.4(PYGM):c.772+16G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2918252	NM_005609.4(PYGM):c.345+12G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2917036	NM_005609.4(PYGM):c.2380-11T>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2916751	NM_005609.4(PYGM):c.1519-13C>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2916090	NM_005609.4(PYGM):c.1093-20C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2914596	NM_005609.4(PYGM):c.529-12C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2913396	NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)	PYGM (R44C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2912847	NM_005609.4(PYGM):c.1828-19C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2912008	NM_005609.4(PYGM):c.609C>T (p.Phe203=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2911464	NM_005609.4(PYGM):c.2380-16T>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2911440	NM_005609.4(PYGM):c.2380-15C>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2911411	NM_005609.4(PYGM):c.1621-15C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign

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