ClinVar for MedGen (Select 410166) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920948	NM_000291.4(PGK1):c.417+13A>T	PGK1	Single nucleotide variant (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GLikely benign
Select item 2689687	NM_000291.4(PGK1):c.352C>A (p.Leu118Met)	PGK1 (L118M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689686	NM_000291.4(PGK1):c.338_346del (p.Ala113_Ser115del)	PGK1	Deletion (inframe_deletion)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 2689685	NM_000291.4(PGK1):c.178C>T (p.Leu60Phe)	PGK1 (L60F)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 2637960	NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)	PGK1 (K192N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 2627609	NM_000291.4(PGK1):c.469C>A (p.Leu157Ile)	PGK1 (L157I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 2627096	NM_000291.4(PGK1):c.1195A>T (p.Ser399Cys)	PGK1 (S399C)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 2582547	NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)	PGK1 (L269R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 2573046	NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)	PGK1 (P182L)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GUncertain significance
Select item 2434674	NM_000291.4(PGK1):c.53G>C (p.Arg18Pro)	PGK1 (R18P)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 2430154	NM_000291.4(PGK1):c.427G>A (p.Glu143Lys)	PGK1 (E143K)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 1991749	NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)	PGK1 (N163S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +2 more	GUncertain significance
Select item 1922599	NM_000291.4(PGK1):c.278T>C (p.Val93Ala)	PGK1 (V93A)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GUncertain significance
Select item 1895850	NM_000291.4(PGK1):c.1152C>T (p.Asn384=)	PGK1	Single nucleotide variant (synonymous variant)	PGK1-related condition +2 more	GBenign/Likely benign
Select item 1805766	NM_000291.4(PGK1):c.418-7T>G	PGK1	Single nucleotide variant (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 1805130	NM_000291.4(PGK1):c.522C>T (p.Ser174=)	PGK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1698730	NM_000291.4(PGK1):c.164C>A (p.Ala55Asp)	PGK1 (A55D)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 1693792	NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)	PGK1 (G254A)	Single nucleotide variant (missense variant)	PGK1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1687119	NM_000291.4(PGK1):c.150C>G (p.Cys50Trp)	PGK1 (C50W)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GLikely pathogenic
Select item 1660405	NM_000291.4(PGK1):c.116+8C>T	PGK1	Single nucleotide variant (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GLikely benign
Select item 1630793	NM_000291.4(PGK1):c.937-8C>T	PGK1	Single nucleotide variant (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign/Likely benign
Select item 1608202	NM_000291.4(PGK1):c.129T>C (p.Ala43=)	PGK1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign/Likely benign
Select item 1578442	NM_000291.4(PGK1):c.642-20A>C	PGK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1524969	NM_000291.4(PGK1):c.909_910delinsTT (p.Ala304Ser)	PGK1 (A304S)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 1488170	NM_000291.4(PGK1):c.929G>A (p.Gly310Asp)	PGK1 (G310D)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1402278	NM_000291.4(PGK1):c.360G>T (p.Glu120Asp)	PGK1 (E120D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1330497	NM_000291.4(PGK1):c.320C>T (p.Ala107Val)	PGK1 (A107V)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 1311580	NM_000291.4(PGK1):c.575A>T (p.Lys192Met)	PGK1 (K192M)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GUncertain significance
Select item 1304039	NM_000291.4(PGK1):c.452G>A (p.Arg151Gln)	PGK1 (R151Q)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GUncertain significance
Select item 1301796	NM_000291.4(PGK1):c.1043T>G (p.Phe348Cys)	PGK1 (F348C)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 1217125	NM_000291.4(PGK1):c.44A>G (p.Lys15Arg)	PGK1 (K15R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163197	NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)	PGK1 (A398T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 973436	NM_000291.4(PGK1):c.238C>T (p.Pro80Ser)	PGK1 (P80S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 811321	NM_000291.4(PGK1):c.892A>G (p.Thr298Ala)	PGK1 (T298A)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 804040	NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys)	PGK1 (E358K)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 793410	NM_000291.4(PGK1):c.909G>C (p.Val303=)	PGK1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 793409	NM_000291.4(PGK1):c.390G>A (p.Gly130=)	PGK1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 725769	NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)	PGK1 (N180S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 716724	NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)	PGK1 (L282F)	Single nucleotide variant (missense variant)	PGK1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 716259	NM_000291.4(PGK1):c.171G>A (p.Ser57=)	PGK1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign
Select item 669319	NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp)	PGK1 (R350W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558818	NM_000291.4(PGK1):c.937-17dup	PGK1	Duplication (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign/Likely benign
Select item 558817	NM_000291.4(PGK1):c.522-24C>T	PGK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 547849	NM_000291.4(PGK1):c.248T>C (p.Val83Ala)	PGK1 (V83A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499279	NM_000291.4(PGK1):c.461T>C (p.Leu154Pro)	PGK1 (L154P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 493535	NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn)	PGK1 (D412N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 452151	NM_000291.4(PGK1):c.872A>G (p.Lys291Arg)	PGK1 (K291R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GUncertain significance
Select item 449821	NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)	PGK1 (S415G)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 167467	NM_000291.4(PGK1):c.1114G>A (p.Gly372Ser)	PGK1 (G372S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 9956	NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)	PGK1 (T378P)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9955	NM_000291.4(PGK1):c.756+5G>A	PGK1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 9954	NM_000291.4(PGK1):c.491A>T (p.Asp164Val)	PGK1 (D164V)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9953	NM_000291.4(PGK1):c.959G>A (p.Ser320Asn)	PGK1 (S320N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9952	NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)	PGK1 (I47N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9951	NM_000291.4(PGK1):c.854A>T (p.Asp285Val)	PGK1 (D285V)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9950	NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)	PGK1 (I253T)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GUncertain significance
Select item 9949	NM_000291.4(PGK1):c.571AAG[1] (p.Lys192del)	PGK1 (K192del)	Microsatellite (inframe_deletion)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9948	NM_000291.4(PGK1):c.946T>C (p.Cys316Arg)	PGK1 (C316R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9947	NM_000291.4(PGK1):c.473G>T (p.Gly158Val)	PGK1 (G158V)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9946	NM_000291.4(PGK1):c.263T>C (p.Leu88Pro)	PGK1 (L88P)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9944	NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met)	PGK1 (V266M)	Indel (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9943	NM_000291.4(PGK1):c.617G>C (p.Arg206Pro)	PGK1 (R206P)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic
Select item 9942	NM_000291.4(PGK1):c.802G>A (p.Asp268Asn)	PGK1 (D268N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GPathogenic

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Items: 63