PCK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 338866	NM_002591.4(PCK1):c.-64C>T	PCK1	Single nucleotide variant (5 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338867	NM_002591.4(PCK1):c.-54C>T	PCK1	Single nucleotide variant (5 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896027	NM_002591.4(PCK1):c.-40-14G>A	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896028	NM_002591.4(PCK1):c.-40-12T>C	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 896029	NM_002591.4(PCK1):c.-3G>A	PCK1	Single nucleotide variant (5 prime UTR variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 788182	NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)	PCK1 (P3S)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 777600	NM_002591.4(PCK1):c.12G>A (p.Gln4=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 3305137	NM_002591.4(PCK1):c.18A>C (p.Gln6His)	PCK1 (Q6H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1565869	NM_002591.4(PCK1):c.21C>T (p.Asn7=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465273	NM_002591.4(PCK1):c.22G>A (p.Gly8Ser)	PCK1 (G8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210222	NM_002591.4(PCK1):c.31C>T (p.Leu11Phe)	PCK1 (L11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1566834	NM_002591.4(PCK1):c.35C>T (p.Ser12Leu)	PCK1 (S12L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2074047	NM_002591.4(PCK1):c.43G>T (p.Val15Phe)	PCK1 (V15F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 896030	NM_002591.4(PCK1):c.64A>G (p.Ser22Gly)	PCK1 (S22G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 338868	NM_002591.4(PCK1):c.69A>G (p.Leu23=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 2175529	NM_002591.4(PCK1):c.84G>A (p.Arg28=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3210228	NM_002591.4(PCK1):c.94G>A (p.Glu32Lys)	PCK1 (E32K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 338869	NM_002591.4(PCK1):c.102C>T (p.Asn34=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 3305133	NM_002591.4(PCK1):c.103G>A (p.Ala35Thr)	PCK1 (A35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719836	NM_002591.4(PCK1):c.111G>A (p.Leu37=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3305134	NM_002591.4(PCK1):c.121G>T (p.Asp41Tyr)	PCK1 (D41Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423014	NM_002591.4(PCK1):c.131A>G (p.His44Arg)	PCK1 (H44R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440851	NM_002591.4(PCK1):c.134T>C (p.Ile45Thr)	PCK1 (I45T)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 338870	NM_002591.4(PCK1):c.141C>T (p.Asp47=)	PCK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2629629	NM_002591.4(PCK1):c.148GAG[2] (p.Glu52del)	PCK1 (E52del)	Microsatellite (inframe_deletion)	PCK1-related disorder	GUncertain significance
Select item 2729046	NM_002591.4(PCK1):c.151G>A (p.Glu51Lys)	PCK1 (E51K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311389	NM_002591.4(PCK1):c.163C>T (p.Arg55Trp)	PCK1 (R55W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163723	NM_002591.4(PCK1):c.164G>A (p.Arg55Gln)	PCK1 (R55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 338871	NM_002591.4(PCK1):c.179T>C (p.Met60Thr)	PCK1 (M60T)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GLikely benign
Select item 2730183	NM_002591.4(PCK1):c.193A>G (p.Ile65Val)	PCK1 (I65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2591589	NM_002591.4(PCK1):c.202C>T (p.Arg68Trp)	PCK1 (R68W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339899	NM_002591.4(PCK1):c.203G>A (p.Arg68Gln)	PCK1 (R68Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 338872	NM_002591.4(PCK1):c.203G>T (p.Arg68Leu)	PCK1 (R68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1349777	NM_002591.4(PCK1):c.208A>C (p.Lys70Gln)	PCK1 (K70Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590232	NM_002591.4(PCK1):c.219C>T (p.Asp73=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3048517	NM_002591.4(PCK1):c.224+10G>T	PCK1	Single nucleotide variant (intron variant)	PCK1-related disorder	GLikely benign
Select item 1265747	NM_002591.4(PCK1):c.225-173G>C	PCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278248	NM_002591.4(PCK1):c.225-134T>C	PCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244405	NM_002591.4(PCK1):c.225-117C>G	PCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270342	NM_002591.4(PCK1):c.225-66C>T	PCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2714591	NM_002591.4(PCK1):c.225-17G>A	PCK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 338873	NM_002591.4(PCK1):c.228G>T (p.Trp76Cys)	PCK1 (W76C)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase (GTP) deficiency +1 more	GUncertain significance
Select item 2162901	NM_002591.4(PCK1):c.249G>T (p.Arg83Ser)	PCK1 (R83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001001	NM_002591.4(PCK1):c.264C>T (p.Ile88=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513582	NM_002591.4(PCK1):c.265G>A (p.Glu89Lys)	PCK1 (E89K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074025	NM_002591.4(PCK1):c.275C>T (p.Thr92Met)	PCK1 (T92M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075531	NM_002591.4(PCK1):c.276G>A (p.Thr92=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338874	NM_002591.4(PCK1):c.282C>T (p.Ile94=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 2652427	NM_002591.4(PCK1):c.294G>A (p.Glu98=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986477	NM_002591.4(PCK1):c.317C>T (p.Pro106Leu)	PCK1 (P106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1405085	NM_002591.4(PCK1):c.328C>T (p.Leu110Phe)	PCK1 (L110F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530202	NM_002591.4(PCK1):c.339C>T (p.Leu113=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895711	NM_002591.4(PCK1):c.343C>T (p.Arg115Cys)	PCK1 (R115C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224911	NM_002591.4(PCK1):c.407-65A>C	PCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1634701	NM_002591.4(PCK1):c.407-15C>T	PCK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 897621	NM_002591.4(PCK1):c.407-11G>A	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GUncertain significance
Select item 1217619	NM_002591.4(PCK1):c.410G>A (p.Arg137His)	PCK1 (R137H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 789357	NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)	PCK1 (T138I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897622	NM_002591.4(PCK1):c.414C>A (p.Thr138=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 2606442	NM_002591.4(PCK1):c.416T>C (p.Met139Thr)	PCK1 (M139T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727623	NM_002591.4(PCK1):c.426C>T (p.Ile142=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029840	NM_002591.4(PCK1):c.444G>A (p.Pro148=)	PCK1	Single nucleotide variant (synonymous variant)	PCK1-related disorder	GLikely benign
Select item 2492250	NM_002591.4(PCK1):c.452C>T (p.Ser151Leu)	PCK1 (S151L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 338875	NM_002591.4(PCK1):c.453G>A (p.Ser151=)	PCK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338876	NM_002591.4(PCK1):c.462A>G (p.Ser154=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 3210223	NM_002591.4(PCK1):c.466A>T (p.Ile156Phe)	PCK1 (I156F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2698616	NM_002591.4(PCK1):c.468C>T (p.Ile156=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898782	NM_002591.4(PCK1):c.474C>T (p.Ile158=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GConflicting classifications of pathogenicity
Select item 2652428	NM_002591.4(PCK1):c.483G>C (p.Thr161=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693070	NM_002591.4(PCK1):c.484G>T (p.Asp162Tyr)	PCK1 (D162Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 338877	NM_002591.4(PCK1):c.489A>G (p.Ser163=)	PCK1	Single nucleotide variant (synonymous variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 2156043	NM_002591.4(PCK1):c.495C>T (p.Tyr165=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069176	NM_002591.4(PCK1):c.496G>A (p.Val166Met)	PCK1 (V166M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010534	NM_002591.4(PCK1):c.504C>T (p.Ala168=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652429	NM_002591.4(PCK1):c.513G>C (p.Arg171=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898783	NM_002591.4(PCK1):c.521C>T (p.Thr174Met)	PCK1 (T174M)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GUncertain significance
Select item 2652430	NM_002591.4(PCK1):c.522G>C (p.Thr174=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368065	NM_002591.4(PCK1):c.524G>A (p.Arg175Gln)	PCK1 (R175Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652431	NM_002591.4(PCK1):c.525G>C (p.Arg175=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728049	NM_002591.4(PCK1):c.537C>T (p.Pro179=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338878	NM_002591.4(PCK1):c.538G>A (p.Val180Ile)	PCK1 (V180I)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +2 more	GUncertain significance
Select item 1589628	NM_002591.4(PCK1):c.540C>T (p.Val180=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338879	NM_002591.4(PCK1):c.550G>C (p.Val184Leu)	PCK1 (V184L)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign
Select item 338880	NM_002591.4(PCK1):c.556G>A (p.Asp186Asn)	PCK1 (D186N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2502278	NM_002591.4(PCK1):c.574T>C (p.Cys192Arg)	PCK1 (C192R)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	GPathogenic
Select item 895814	NM_002591.4(PCK1):c.577C>T (p.Leu193Phe)	PCK1 (L193F)	Single nucleotide variant (missense variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +2 more	GUncertain significance
Select item 2793892	NM_002591.4(PCK1):c.584C>A (p.Ser195Tyr)	PCK1 (S195Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490888	NM_002591.4(PCK1):c.586G>A (p.Val196Met)	PCK1 (V196M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380489	NM_002591.4(PCK1):c.609A>G (p.Gln203=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 743262	NM_002591.4(PCK1):c.610+7G>A	PCK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234699	NM_002591.4(PCK1):c.611-44G>C	PCK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1600211	NM_002591.4(PCK1):c.611-16G>A	PCK1	Single nucleotide variant (intron variant)	Phosphoenolpyruvate carboxykinase deficiency, cytosolic +1 more	GBenign/Likely benign

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