2538[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 889444	NM_000151.4(G6PC1):c.-77G>A	G6PC1	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GBenign/Likely benign
Select item 137405	NM_000151.4(G6PC1):c.-45G>A	G6PC1	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GConflicting classifications of pathogenicity
Select item 1682472	NM_000151.4(G6PC1):c.6_7delinsAA (p.Glu3Lys)	G6PC1 (E3K)	Indel (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1682473	NM_000151.4(G6PC1):c.9A>G (p.Glu3=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2128831	NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)	G6PC1 (M5K)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 555353	NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	G6PC1 (M5R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2757735	NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)	G6PC1 (M5I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2057407	NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)	G6PC1 (M5I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 2028876	NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)	G6PC1 (M5I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 1682474	NM_000151.4(G6PC1):c.18T>A (p.Asn6Lys)	G6PC1 (N6K)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 795472	NM_000151.4(G6PC1):c.18T>C (p.Asn6=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 1932452	NM_000151.4(G6PC1):c.27T>A (p.His9Gln)	G6PC1 (H9Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1154825	NM_000151.4(G6PC1):c.42G>A (p.Gln14=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1682475	NM_000151.4(G6PC1):c.45A>C (p.Ser15=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1103192	NM_000151.4(G6PC1):c.45A>G (p.Ser15=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2429132	NM_000151.4(G6PC1):c.46A>G (p.Thr16Ala)	G6PC1 (T16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 554430	NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg)	G6PC1 (T16R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2760293	NM_000151.4(G6PC1):c.48A>C (p.Thr16=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 550812	NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs)	G6PC1 (Y23fs)	Duplication (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 1682476	NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter)	G6PC1 (Y18*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2694510	NM_000151.4(G6PC1):c.57C>T (p.Leu19=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1030625	NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)	G6PC1 (Q20R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 973573	NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)	G6PC1	Deletion (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 1082623	NM_000151.4(G6PC1):c.66T>C (p.Asn22=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2999013	NM_000151.4(G6PC1):c.69C>T (p.Tyr23=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2821689	NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)	G6PC1 (Y23*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 1685830	NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter)	G6PC1 (Q24*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
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 +2 more	GPathogenic
Select item 370273	NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)	G6PC1 (Q27*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
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 2048597	NM_000151.4(G6PC1):c.85T>A (p.Trp29Arg)	G6PC1 (W29R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1935865	NM_000151.4(G6PC1):c.91A>T (p.Ile31Phe)	G6PC1 (I31F)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1682477	NM_000151.4(G6PC1):c.92T>A (p.Ile31Asn)	G6PC1 (I31N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1983717	NM_000151.4(G6PC1):c.93C>T (p.Ile31=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1682478	NM_000151.4(G6PC1):c.94T>C (p.Leu32=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2728583	NM_000151.4(G6PC1):c.98T>A (p.Val33Glu)	G6PC1 (V33E)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1682479	NM_000151.4(G6PC1):c.102C>T (p.Ser34=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2144799	NM_000151.4(G6PC1):c.103G>A (p.Val35Met)	G6PC1 (V35M)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	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 1682480	NM_000151.4(G6PC1):c.109G>A (p.Ala37Thr)	G6PC1 (A37T)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GUncertain significance
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 1682481	NM_000151.4(G6PC1):c.114C>T (p.Asp38=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2048140	NM_000151.4(G6PC1):c.121A>G (p.Asn41Asp)	G6PC1 (N41D)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1800699	NM_000151.4(G6PC1):c.125_133delinsACTTCTACA (p.Ala42_Val45delinsAspPheTyrIle)	G6PC1	Indel (missense variant)	not provided	GUncertain significance
Select item 2782610	NM_000151.4(G6PC1):c.126C>A (p.Ala42=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2747824	NM_000151.4(G6PC1):c.126C>T (p.Ala42=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2820616	NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu)	G6PC1 (F43L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2134393	NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)	G6PC1 (Y44*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 377897	NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GBenign/Likely benign
Select item 2917384	NM_000151.4(G6PC1):c.133G>C (p.Val45Leu)	G6PC1 (V45L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 890128	NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)	G6PC1 (V45I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2103543	NM_000151.4(G6PC1):c.135C>A (p.Val45=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 371379	NM_000151.4(G6PC1):c.136del (p.Leu46fs)	G6PC1 (L46fs)	Deletion (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 2186393	NM_000151.4(G6PC1):c.141C>G (p.Phe47Leu)	G6PC1 (F47L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1682482	NM_000151.4(G6PC1):c.141C>T (p.Phe47=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2008472	NM_000151.4(G6PC1):c.142C>T (p.Pro48Ser)	G6PC1 (P48S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1147798	NM_000151.4(G6PC1):c.144C>T (p.Pro48=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2696661	NM_000151.4(G6PC1):c.147C>T (p.Ile49=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 370671	NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)	G6PC1 (W50fs)	Deletion (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 2664192	NM_000151.4(G6PC1):c.155A>T (p.His52Leu)	G6PC1 (H52L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 1071784	NM_000151.4(G6PC1):c.160_224dup (p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer)	G6PC1	Duplication (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2116424	NM_000151.4(G6PC1):c.156T>C (p.His52=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely 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 2990317	NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp)	G6PC1 (A56D)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2041099	NM_000151.4(G6PC1):c.172G>A (p.Gly58Ser)	G6PC1 (G58S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
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 1800118	NM_000151.4(G6PC1):c.181C>T (p.Leu61Phe)	G6PC1 (L61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441597	NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)	G6PC1 (W63C)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
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 665757	NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro)	G6PC1 (A65P)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 2845677	NM_000151.4(G6PC1):c.195T>A (p.Ala65=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1682484	NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)	G6PC1 (G68R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 997956	NM_000151.4(G6PC1):c.208del (p.Trp70fs)	G6PC1 (W70fs)	Deletion (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 1210409	NM_000151.4(G6PC1):c.209G>C (p.Trp70Ser)	G6PC1 (W70S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 813495	NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)	G6PC1 (W70*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 1724158	NM_000151.4(G6PC1):c.211del (p.Leu71fs)	G6PC1 (L71fs)	Deletion (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
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 1682486	NM_000151.4(G6PC1):c.216C>T (p.Asn72=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1139398	NM_000151.4(G6PC1):c.219C>T (p.Leu73=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1096350	NM_000151.4(G6PC1):c.219C>A (p.Leu73=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1084143	NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)	G6PC1 (V74I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GConflicting classifications of pathogenicity
Select item 1080800	NM_000151.4(G6PC1):c.225T>C (p.Phe75=)	G6PC1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
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 3001187	NM_000151.4(G6PC1):c.230+1G>T	G6PC1	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 214464	NM_000151.4(G6PC1):c.230+1G>C	G6PC1	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 12002	NM_000151.4(G6PC1):c.230+4A>G	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic
Select item 2880032	NM_000151.4(G6PC1):c.230+8C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2830489	NM_000151.4(G6PC1):c.230+9C>A	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2790944	NM_000151.4(G6PC1):c.230+10A>G	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 890129	NM_000151.4(G6PC1):c.230+11T>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 2721816	NM_000151.4(G6PC1):c.230+13T>C	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1682487	NM_000151.4(G6PC1):c.230+14A>G	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 2805768	NM_000151.4(G6PC1):c.230+16A>G	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 1321744	NM_000151.4(G6PC1):c.230+30A>G	G6PC1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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