C2919796[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557173	NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	ASS1 (E270Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 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 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 12004	NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	G6PC1 (D38V)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
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 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 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 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 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 502134	NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)	G6PC1 (W86*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 12005	NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	G6PC1 (E110K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 516270	NM_000151.4(G6PC1):c.340+20C>T	G6PC1	Single nucleotide variant (intron variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GLikely benign
Select item 552906	NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu)	G6PC1 (G114E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 557664	NM_000151.4(G6PC1):c.361A>G (p.Met121Val)	G6PC1 (M121V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 553272	NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter)	G6PC1 (Y127*)	Single nucleotide variant (intron variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 553158	NM_000151.4(G6PC1):c.447-1G>A	G6PC1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 558315	NM_000151.4(G6PC1):c.447G>A (p.Arg149=)	G6PC1 (V124M)	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 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 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 370616	NM_000151.4(G6PC1):c.499dup (p.Cys167fs)	G6PC1 (S142fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 558339	NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)	G6PC1 (P147T +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
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 553822	NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)	G6PC1 (S187*)	Single nucleotide variant (nonsense +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 558022	NM_000151.4(G6PC1):c.606T>C (p.Tyr202=)	G6PC1	Single nucleotide variant (stop lost +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely benign
Select item 554980	NM_000151.4(G6PC1):c.646C>T (p.Leu216=)	G6PC1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
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 550615	NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)	G6PC1 (L225P)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 553443	NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter)	G6PC1 (W236*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 551425	NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter)	G6PC1 (W244*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 557793	NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del)	G6PC1 (L262del)	Microsatellite (inframe_deletion +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance
Select item 555193	NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)	G6PC1 (N264K)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GConflicting classifications of pathogenicity
Select item 371652	NM_000151.4(G6PC1):c.798del (p.Thr267fs)	G6PC1 (T267fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 21063	NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	G6PC1 (G270V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GPathogenic/Likely pathogenic
Select item 370907	NM_000151.4(G6PC1):c.858del (p.Lys287fs)	G6PC1 (K287fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
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 214461	NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)	G6PC1 (P315A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 556906	NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs)	G6PC1 (V318fs)	Insertion (frameshift variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GLikely pathogenic
Select item 214462	NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)	G6PC1 (F322Y)	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 188777	NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	G6PC1 (Y323*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA +1 more	GPathogenic/Likely pathogenic
Select item 371388	NM_000151.4(G6PC1):c.980_982del (p.Phe327del)	G6PC1 (F327del)	Deletion (inframe_deletion +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GPathogenic/Likely pathogenic
Select item 188945	NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)	G6PC1 (V338F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554562	NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter)	G6PC1 (S356*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	GUncertain significance

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Items: 46