ClinVar for MedGen (Select 6639) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076003	NM_002103.5(GYS1):c.989_992del (p.Gly330fs)	GYS1 (G266fs +1 more)	Microsatellite (frameshift variant +1 more)	Glycogen storage disease	GLikely 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 667422	NM_021957.4(GYS2):c.1081del (p.Thr361fs)	GYS2 (T361fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 658611	NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)	PYGM (G607R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease +1 more	GPathogenic
Select item 632192	NM_000289.6(PFKM):c.2003del (p.Pro668fs)	PFKM (P618fs +8 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 456508	NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	AGL (R1487* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 371305	NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	GAA (M439K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 280955	NM_000152.5(GAA):c.546G>A (p.Thr182=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 265160	NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	GAA (W746C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 208584	NM_000158.4(GBE1):c.691+2T>C	GBE1	Single nucleotide variant (splice donor variant)	GBE1-related condition +6 more	GPathogenic
Select item 162663	NM_004130.4(GYG1):c.304G>C (p.Asp102His)	GYG1 (D102H)	Single nucleotide variant (missense variant)	GYG1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 92483	NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	GAA (C103G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92480	NM_000152.5(GAA):c.2544del (p.Lys849fs)	GAA (K849fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 16049	NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	GYS2 (R246*)	Single nucleotide variant (nonsense)	GYS2-related condition +4 more	GPathogenic/Likely pathogenic
Select item 12000	NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	G6PC1 (Q347*)	Single nucleotide variant (nonsense +1 more)	G6PC1-related condition +3 more	GPathogenic
Select item 11998	NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	G6PC1 (R83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 6926	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	SLC37A4 (L275fs +2 more)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IIw +5 more	GPathogenic