PCK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	ADCY4, AKAP6 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 559129	NM_004563.4(PCK2):c.6C>T (p.Ala2=)	PCK2, NRL	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2165082	NM_004563.4(PCK2):c.11T>G (p.Leu4Trp)	NRL, PCK2 (L4W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2721282	NM_004563.4(PCK2):c.12G>C (p.Leu4Phe)	NRL, PCK2 (L4F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2611645	NM_004563.4(PCK2):c.17G>A (p.Arg6His)	NRL, PCK2 (R6H)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3020349	NM_004563.4(PCK2):c.18C>A (p.Arg6=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3065586	NM_001354768.3(NRL):c.-27-11564C>T	NRL, PCK2	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa 27	GUncertain significance
Select item 2894000	NM_004563.4(PCK2):c.30-20T>C	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995460	NM_004563.4(PCK2):c.30-13G>A	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 374449	NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)	NRL, PCK2 (S23*)	Single nucleotide variant (nonsense +2 more)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial +2 more	GConflicting classifications of pathogenicity
Select item 1368796	NM_004563.4(PCK2):c.74G>A (p.Arg25His)	NRL, PCK2 (R25H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2068310	NM_004563.4(PCK2):c.92G>A (p.Arg31Gln)	NRL, PCK2 (R31Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2396840	NM_004563.4(PCK2):c.94G>A (p.Val32Met)	NRL, PCK2 (V32M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2731744	NM_004563.4(PCK2):c.121C>T (p.Pro41Ser)	NRL, PCK2 (P41S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1634621	NM_004563.4(PCK2):c.150C>T (p.His50=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1524621	NM_004563.4(PCK2):c.157C>A (p.Arg53Ser)	NRL, PCK2 (R53S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1032912	NM_004563.4(PCK2):c.157C>T (p.Arg53Cys)	NRL, PCK2 (R53C)	Single nucleotide variant (missense variant +2 more)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial +2 more	GUncertain significance
Select item 2699332	NM_004563.4(PCK2):c.162G>T (p.Leu54=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016853	NM_004563.4(PCK2):c.179T>C (p.Ile60Thr)	NRL, PCK2 (I60T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2330800	NM_004563.4(PCK2):c.187T>G (p.Cys63Gly)	NRL, PCK2 (C63G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 559130	NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)	NRL, PCK2 (D64N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2052577	NM_004563.4(PCK2):c.197C>G (p.Thr66Ser)	NRL, PCK2 (T66S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2248937	NM_004563.4(PCK2):c.218C>T (p.Thr73Ile)	NRL, PCK2 (T73I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1931087	NM_004563.4(PCK2):c.231G>A (p.Leu77=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2718337	NM_004563.4(PCK2):c.250C>T (p.Arg84Ter)	NRL, PCK2 (R84*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1980085	NM_004563.4(PCK2):c.251G>A (p.Arg84Gln)	NRL, PCK2 (R84Q)	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GUncertain significance
Select item 618264	NM_004563.4(PCK2):c.260C>G (p.Pro87Arg)	NRL, PCK2 (P87R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2279068	NM_004563.4(PCK2):c.269A>G (p.Asn90Ser)	NRL, PCK2 (N90S)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2042878	NM_004563.4(PCK2):c.273C>A (p.Asn91Lys)	NRL, PCK2 (N91K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2419963	NM_004563.4(PCK2):c.275+1G>A	NRL, PCK2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2072700	NM_004563.4(PCK2):c.276-3C>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2761941	NM_004563.4(PCK2):c.287G>T (p.Arg96Leu)	NRL, PCK2 (R96L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1032911	NM_004563.4(PCK2):c.287G>A (p.Arg96His)	NRL, PCK2 (R96H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1991589	NM_004563.4(PCK2):c.297del (p.Lys100fs)	NRL, PCK2 (K100fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2163728	NM_004563.4(PCK2):c.303_309del (p.Val102fs)	NRL, PCK2 (V102fs)	Deletion (intron variant +2 more)	not provided	GUncertain significance
Select item 393237	NM_004563.4(PCK2):c.310C>T (p.Arg104Ter)	NRL, PCK2 (R104*)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1614652	NM_004563.4(PCK2):c.327G>A (p.Thr109=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 803011	NM_004563.4(PCK2):c.362= (p.Pro121=)	PCK2, NRL	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2042931	NM_004563.4(PCK2):c.368C>T (p.Pro123Leu)	NRL, PCK2 (P123L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 559131	NM_004563.4(PCK2):c.372T>C (p.Pro124=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2152773	NM_004563.4(PCK2):c.383G>A (p.Arg128His)	NRL, PCK2 (R128H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1432827	NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)	NRL, PCK2 (R8* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 559132	NM_004563.4(PCK2):c.451_452dup (p.Met152fs)	NRL, PCK2 (M152fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 559133	NM_004563.4(PCK2):c.453C>G (p.Cys151Trp)	NRL, PCK2 (C151W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 559134	NM_004563.4(PCK2):c.457del (p.Gln153fs)	NRL, PCK2 (Q153fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1686014	NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs)	NRL, PCK2 (G154fs +1 more)	Insertion (frameshift variant +1 more)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial	GPathogenic
Select item 559135	NM_004563.4(PCK2):c.459_460insA (p.Gly154fs)	NRL, PCK2 (G20fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 559136	NM_001354768.3(NRL):c.-27-15516_-27-15515inv	NRL, PCK2	Inversion (intron variant)	not provided	GLikely benign
Select item 1562993	NM_001354768.3(NRL):c.-27-15580C>T	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2766192	NM_004563.4(PCK2):c.461-8C>T	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1435014	NM_004563.4(PCK2):c.463C>T (p.Arg155Cys)	NRL, PCK2 (R155C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3031325	NM_004563.4(PCK2):c.483A>G (p.Pro161=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related condition	GLikely benign
Select item 2079788	NM_004563.4(PCK2):c.494G>A (p.Gly165Asp)	NRL, PCK2 (G165D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2148479	NM_004563.4(PCK2):c.509C>T (p.Pro170Leu)	NRL, PCK2 (P36L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1585182	NM_004563.4(PCK2):c.510G>A (p.Pro170=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2142987	NM_004563.4(PCK2):c.520A>T (p.Ile174Phe)	NRL, PCK2 (I174F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041800	NM_004563.4(PCK2):c.523G>A (p.Gly175Arg)	NRL, PCK2 (G175R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1432900	NM_004563.4(PCK2):c.565C>T (p.Arg189Cys)	NRL, PCK2 (R55C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451808	NM_004563.4(PCK2):c.577C>T (p.Arg193Ter)	NRL, PCK2 (R193* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2713587	NM_004563.4(PCK2):c.644G>A (p.Gly215Asp)	NRL, PCK2 (G81D +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2849268	NM_004563.4(PCK2):c.664G>A (p.Gly222Arg)	NRL, PCK2 (G222R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1628956	NM_001354768.3(NRL):c.-27-15812G>C	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983731	NM_004563.4(PCK2):c.664+16G>A	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2260724	NM_004563.4(PCK2):c.674T>G (p.Val225Gly)	NRL, PCK2 (V225G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1447213	NM_004563.4(PCK2):c.706_707del (p.Leu236fs)	NRL, PCK2 (L102fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2046057	NM_004563.4(PCK2):c.707_708insA (p.Ile237fs)	NRL, PCK2 (I103fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 716781	NM_004563.4(PCK2):c.708G>A (p.Leu236=)	PCK2, NRL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1968928	NM_004563.4(PCK2):c.717C>T (p.His239=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2916202	NM_004563.4(PCK2):c.718G>A (p.Val240Met)	NRL, PCK2 (V240M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1635161	NM_004563.4(PCK2):c.730C>T (p.Arg244Trp)	NRL, PCK2 (R110W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2747882	NM_004563.4(PCK2):c.731G>A (p.Arg244Gln)	NRL, PCK2 (R244Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2547523	NM_004563.4(PCK2):c.734A>C (p.Glu245Ala)	NRL, PCK2 (E245A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 559137	NM_004563.4(PCK2):c.747C>T (p.Phe249=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2960181	NM_004563.4(PCK2):c.748G>C (p.Gly250Arg)	PCK2, NRL (G116R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3055845	NM_004563.4(PCK2):c.753C>T (p.Ser251=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related condition	GLikely benign
Select item 2032543	NM_004563.4(PCK2):c.764G>A (p.Gly255Asp)	NRL, PCK2 (G255D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2153079	NM_004563.4(PCK2):c.779G>A (p.Gly260Asp)	NRL, PCK2 (G126D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2051233	NM_004563.4(PCK2):c.781A>C (p.Lys261Gln)	NRL, PCK2 (K261Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423168	NM_004563.4(PCK2):c.792del (p.Phe264fs)	PCK2, NRL (F130fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2180843	NM_004563.4(PCK2):c.799C>T (p.Arg267Cys)	NRL, PCK2 (R267C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2064927	NM_004563.4(PCK2):c.799C>G (p.Arg267Gly)	NRL, PCK2 (R133G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423170	NM_004563.4(PCK2):c.802A>G (p.Ile268Val)	NRL, PCK2 (I268V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2194727	NM_004563.4(PCK2):c.805G>A (p.Ala269Thr)	NRL, PCK2 (A135T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183740	NM_004563.4(PCK2):c.806C>T (p.Ala269Val)	PCK2, NRL (A269V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052763	NM_004563.4(PCK2):c.811C>T (p.Arg271Trp)	NRL, PCK2 (R137W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2725140	NM_004563.4(PCK2):c.812G>A (p.Arg271Gln)	NRL, PCK2 (R137Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884023	NM_004563.4(PCK2):c.820C>T (p.Arg274Trp)	NRL, PCK2 (R274W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1978578	NM_004563.4(PCK2):c.853-16T>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722813	NM_004563.4(PCK2):c.853-8A>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 791702	NM_004563.4(PCK2):c.885G>A (p.Lys295=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2884456	NM_004563.4(PCK2):c.886C>T (p.Arg296Cys)	NRL, PCK2 (R296C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365006	NM_004563.4(PCK2):c.898_899delinsAA (p.Ala300Asn)	NRL, PCK2 (A166N +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance

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