"Natera, Inc."[submitter] AND "G6PC1"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137405	NM_000151.4(G6PC1):c.-45G>A	G6PC1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 555353	NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	G6PC1 (M5R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 21062	NM_000151.4(G6PC1):c.79del (p.Gln27fs)	G6PC1 (Q27fs)	Deletion (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +3 more	GPathogenic
Select item 12004	NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	G6PC1 (D38V)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 377897	NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)	G6PC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 371101	NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)	G6PC1 (Q54P)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 188966	NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)	G6PC1 (W63*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 1040468	NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)	G6PC1 (A65S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GUncertain significance
Select item 855275	NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)	G6PC1 (K76N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12001	NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)	G6PC1 (W77R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
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)	Short stature +5 more	GPathogenic
Select item 38300	NM_000151.4(G6PC1):c.248G>A (p.Arg83His)	G6PC1 (R83H)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 543553	NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)	G6PC1 (Y85*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 643470	NM_000151.4(G6PC1):c.262del (p.Val88fs)	G6PC1 (V88fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 948256	NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)	G6PC1 (Q104*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 990471	NM_000151.4(G6PC1):c.340+7G>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 285532	NM_000151.4(G6PC1):c.340+10C>A	G6PC1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255351	NM_000151.4(G6PC1):c.340+42C>T	G6PC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1076798	NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	G6PC1 (G122D)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 990472	NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)	G6PC1 (T123I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 933836	NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)	G6PC1 (T123K)	Single nucleotide variant (intron variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
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 841886	NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)	G6PC1 (Y128*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 214458	NM_000151.4(G6PC1):c.432G>A (p.Pro144=)	G6PC1 (D119N)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 557154	NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)	G6PC1 (W156L)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 928928	NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)	G6PC1 (W160*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely 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)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GPathogenic
Select item 558339	NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)	G6PC1 (P147T +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
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 289099	NM_000151.4(G6PC1):c.562+10G>A	G6PC1	Single nucleotide variant (intron variant)	G6PC1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 890707	NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)	G6PC1 (N168S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1169173	NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)	G6PC1 (A204S)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GBenign
Select item 709507	NM_000151.4(G6PC1):c.615C>T (p.Ser205=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GBenign
Select item 543555	NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe)	G6PC1 (I212F)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 990473	NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)	G6PC1 (F215L)	Single nucleotide variant (missense variant +1 more)	not provided	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 961497	NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)	G6PC1 (G222R)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
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 214457	NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)	G6PC1 (V232I)	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 951655	NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)	G6PC1 (W236R)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
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 1090474	NM_000151.4(G6PC1):c.726G>A (p.Gln242=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 507866	NM_000151.4(G6PC1):c.765C>T (p.Thr255=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	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 738913	NM_000151.4(G6PC1):c.879A>G (p.Pro293=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GConflicting classifications of pathogenicity
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 725044	NM_000151.4(G6PC1):c.888C>G (p.Leu296=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 516364	NM_000151.4(G6PC1):c.909C>T (p.Leu303=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	G6PC1-related disorder +3 more	GConflicting classifications of pathogenicity
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 723357	NM_000151.4(G6PC1):c.942C>G (p.Pro314=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GLikely benign
Select item 725429	NM_000151.4(G6PC1):c.948C>A (p.Ser316=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
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 793212	NM_000151.4(G6PC1):c.960G>T (p.Leu320=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 568776	NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)	G6PC1 (F322V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
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 724190	NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	G6PC1 (A331V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
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)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +3 more	GPathogenic
Select item 378938	NM_000151.4(G6PC1):c.1068G>A (p.Ser356=)	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 212778	NM_000151.4(G6PC1):c.*3G>A	G6PC1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 255350	NM_000151.4(G6PC1):c.*23T>C	G6PC1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign

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Items: 65