"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PYGM"[gene] - ClinVar

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Items: 28

	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 281389	NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)	PYGM (R816C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +3 more	GConflicting classifications of pathogenicity
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 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 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 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 573482	NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)	PYGM (M693T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 194748	NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	PYGM (A670V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +2 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)	Glycogen storage disease, type V +1 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)	not provided +1 more	GUncertain significance
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 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 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 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 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 451844	NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)	PYGM (A448T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 95300	NM_005609.4(PYGM):c.661-5C>G	PYGM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 990055	NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)	PYGM (Q132K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
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 591687	NM_005609.4(PYGM):c.395_408del (p.Leu132fs)	PYGM (L132fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type V	GPathogenic/Likely 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 456518	NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)	PYGM (R94W)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type V +1 more	GPathogenic
Select item 990059	NM_005609.4(PYGM):c.193G>A (p.Val65Met)	PYGM (V65M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 580278	NM_005609.4(PYGM):c.160T>G (p.Phe54Val)	PYGM (F54V)	Single nucleotide variant (missense variant)	not specified +3 more	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 421496	NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)	PYGM (G21S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance

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Items: 28