"Fulgent Genetics, Fulgent Genetics"[submitter] AND "G6PC1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323359	NM_000151.4(G6PC1):c.81G>C (p.Gln27His)	G6PC1 (Q27H)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +2 more	GUncertain significance
Select item 890127	NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)	G6PC1 (D28N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1077646	NM_000151.4(G6PC1):c.108C>T (p.Ile36=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 377897	NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)	G6PC1	Single nucleotide variant (synonymous variant)	G6PC1-related condition +2 more	GBenign/Likely benign
Select item 1682483	NM_000151.4(G6PC1):c.175A>G (p.Ile59Val)	G6PC1 (I59V)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1040468	NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)	G6PC1 (A65S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1682485	NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser)	G6PC1 (N72S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 549978	NM_000151.4(G6PC1):c.231-1G>A	G6PC1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 11998	NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	G6PC1 (R83C)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic
Select item 12005	NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	G6PC1 (E110K)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 11997	NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	G6PC1 (Y128fs)	Microsatellite (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GPathogenic
Select item 556681	NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)	G6PC1 (V166A)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 1682511	NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)	G6PC1 (C167Y)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 1682512	NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)	G6PC1 (S169*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 522204	NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)	G6PC1 (R170* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 929150	NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)	G6PC1 (R170Q)	Single nucleotide variant (missense variant +1 more)	G6PC1-related condition +1 more	GPathogenic
Select item 557149	NM_000151.4(G6PC1):c.558G>T (p.Leu186=)	G6PC1 (V161F)	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GLikely benign
Select item 214465	NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	G6PC1 (G188S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GPathogenic/Likely pathogenic
Select item 12008	NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	G6PC1 (G188R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 890708	NM_000151.4(G6PC1):c.634A>G (p.Ile212Val)	G6PC1 (I212V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 323362	NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile)	G6PC1 (T213I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 12003	NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 214459	NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)	G6PC1 (G222A)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GConflicting classifications of pathogenicity
Select item 739530	NM_000151.4(G6PC1):c.723C>T (p.Ala241=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 21061	NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	G6PC1 (Q242*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 722552	NM_000151.4(G6PC1):c.786C>T (p.Leu262=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1152333	NM_000151.4(G6PC1):c.804C>T (p.Leu268=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 21063	NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	G6PC1 (G270V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1126328	NM_000151.4(G6PC1):c.822T>C (p.Ala274=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 11999	NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	G6PC1 (R295C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 214463	NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)	G6PC1 (V304I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +2 more	GConflicting classifications of pathogenicity
Select item 390692	NM_000151.4(G6PC1):c.954C>T (p.Val318=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 188777	NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	G6PC1 (Y323*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371388	NM_000151.4(G6PC1):c.980_982del (p.Phe327del)	G6PC1 (F327del)	Deletion (3 prime UTR variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 377898	NM_000151.4(G6PC1):c.1002C>T (p.Pro334=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GBenign/Likely benign
Select item 188945	NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)	G6PC1 (V338F)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 12000	NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	G6PC1 (Q347*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 889516	NM_000151.4(G6PC1):c.*103C>T	G6PC1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance

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Items: 38