ClinVar for Gene (Select 5105) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3305136	NM_002591.4(PCK1):c.1577T>C (p.Leu526Pro)	PCK1 (L526P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305135	NM_002591.4(PCK1):c.614C>G (p.Pro205Arg)	PCK1 (P205R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3305133	NM_002591.4(PCK1):c.103G>A (p.Ala35Thr)	PCK1 (A35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305132	NM_002591.4(PCK1):c.1154C>T (p.Ser385Phe)	PCK1 (S385F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305131	NM_002591.4(PCK1):c.775G>A (p.Gly259Arg)	PCK1 (G259R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305130	NM_002591.4(PCK1):c.1745A>G (p.Lys582Arg)	PCK1 (K582R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305128	NM_002591.4(PCK1):c.1565A>T (p.Glu522Val)	PCK1 (E522V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3210229	NM_002591.4(PCK1):c.955G>T (p.Ala319Ser)	PCK1 (A319S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3210226	NM_002591.4(PCK1):c.641C>T (p.Pro214Leu)	PCK1 (P214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3210222	NM_002591.4(PCK1):c.31C>T (p.Leu11Phe)	PCK1 (L11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3210220	NM_002591.4(PCK1):c.1319G>T (p.Gly440Val)	PCK1 (G440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210219	NM_002591.4(PCK1):c.1244T>A (p.Ile415Asn)	PCK1 (I415N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210218	NM_002591.4(PCK1):c.1073C>T (p.Thr358Ile)	PCK1 (T358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210217	NM_002591.4(PCK1):c.1009C>T (p.Pro337Ser)	PCK1 (P337S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055085	NM_002591.4(PCK1):c.999C>T (p.Phe333=)	PCK1	Single nucleotide variant (synonymous variant)	PCK1-related disorder	GLikely benign
Select item 3053552	NM_002591.4(PCK1):c.1107C>T (p.Tyr369=)	PCK1	Single nucleotide variant (synonymous variant)	PCK1-related disorder	GLikely benign
Select item 3050980	NM_002591.4(PCK1):c.684C>A (p.Ile228=)	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 3029840	NM_002591.4(PCK1):c.444G>A (p.Pro148=)	PCK1	Single nucleotide variant (synonymous variant)	PCK1-related disorder	GLikely benign
Select item 3020989	NM_002591.4(PCK1):c.1764G>A (p.Glu588=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010534	NM_002591.4(PCK1):c.504C>T (p.Ala168=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001001	NM_002591.4(PCK1):c.264C>T (p.Ile88=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993943	NM_002591.4(PCK1):c.1187-18C>T	PCK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918548	NM_002591.4(PCK1):c.1382G>A (p.Arg461Lys)	PCK1 (R461K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916080	NM_002591.4(PCK1):c.1095C>T (p.Asp365=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905290	NM_002591.4(PCK1):c.1083C>T (p.Ala361=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824635	NM_002591.4(PCK1):c.624C>T (p.Asn208=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2741661	NM_002591.4(PCK1):c.1125G>A (p.Glu375=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	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 2729046	NM_002591.4(PCK1):c.151G>A (p.Glu51Lys)	PCK1 (E51K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728162	NM_002591.4(PCK1):c.962-16G>A	PCK1	Single nucleotide variant (intron 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 2723912	NM_002591.4(PCK1):c.1148T>A (p.Ile383Asn)	PCK1 (I383N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714591	NM_002591.4(PCK1):c.225-17G>A	PCK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712076	NM_002591.4(PCK1):c.1319-11del	PCK1	Deletion (intron variant)	not provided	GBenign
Select item 2698616	NM_002591.4(PCK1):c.468C>T (p.Ile156=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652431	NM_002591.4(PCK1):c.525G>C (p.Arg175=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652430	NM_002591.4(PCK1):c.522G>C (p.Thr174=)	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 2652428	NM_002591.4(PCK1):c.483G>C (p.Thr161=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652427	NM_002591.4(PCK1):c.294G>A (p.Glu98=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629629	NM_002591.4(PCK1):c.148GAG[2] (p.Glu52del)	PCK1 (E52del)	Microsatellite (inframe_deletion)	PCK1-related disorder	GUncertain significance
Select item 2624137	NM_002591.4(PCK1):c.1580G>C (p.Trp527Ser)	PCK1 (W527S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2600398	NM_002591.4(PCK1):c.1831G>C (p.Glu611Gln)	PCK1 (E611Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2539059	NM_002591.4(PCK1):c.1388A>C (p.Glu463Ala)	PCK1 (E463A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525063	NM_002591.4(PCK1):c.1414+4A>C	PCK1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2515613	NM_002591.4(PCK1):c.1583C>T (p.Pro528Leu)	PCK1 (P528L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2512705	NM_002591.4(PCK1):c.1777G>A (p.Glu593Lys)	PCK1 (E593K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2498887	NM_002591.4(PCK1):c.709G>A (p.Gly237Arg)	PCK1 (G237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2490888	NM_002591.4(PCK1):c.586G>A (p.Val196Met)	PCK1 (V196M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487475	NM_002591.4(PCK1):c.679G>A (p.Glu227Lys)	PCK1 (E227K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483739	NM_002591.4(PCK1):c.758G>A (p.Arg253Gln)	PCK1 (R253Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2405689	NM_002591.4(PCK1):c.761T>G (p.Leu254Arg)	PCK1 (L254R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405497	NM_002591.4(PCK1):c.754A>C (p.Ser252Arg)	PCK1 (S252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397952	NM_002591.4(PCK1):c.1184A>G (p.Asp395Gly)	PCK1 (D395G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362394	NM_002591.4(PCK1):c.842C>T (p.Ala281Val)	PCK1 (A281V)	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 2313332	NM_002591.4(PCK1):c.1721T>C (p.Met574Thr)	PCK1 (M574T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308969	NM_002591.4(PCK1):c.1813C>G (p.Pro605Ala)	PCK1 (P605A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287674	NM_002591.4(PCK1):c.650C>T (p.Thr217Met)	PCK1 (T217M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259955	NM_002591.4(PCK1):c.1168G>A (p.Glu390Lys)	PCK1 (E390K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254697	NM_002591.4(PCK1):c.864C>G (p.Cys288Trp)	PCK1 (C288W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242684	NM_002591.4(PCK1):c.1115G>T (p.Gly372Val)	PCK1 (G372V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240517	NM_002591.4(PCK1):c.1296C>G (p.Ile432Met)	PCK1 (I432M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234739	NM_002591.4(PCK1):c.1375G>A (p.Ala459Thr)	PCK1 (A459T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232192	NM_002591.4(PCK1):c.673C>T (p.Arg225Cys)	PCK1 (R225C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227997	NM_002591.4(PCK1):c.1234C>T (p.Gln412Ter)	PCK1 (Q412*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2214550	NM_002591.4(PCK1):c.1664T>C (p.Ile555Thr)	PCK1 (I555T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193726	NM_002591.4(PCK1):c.1592G>A (p.Gly531Glu)	PCK1 (G531E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175529	NM_002591.4(PCK1):c.84G>A (p.Arg28=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2162901	NM_002591.4(PCK1):c.249G>T (p.Arg83Ser)	PCK1 (R83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159940	NM_002591.4(PCK1):c.1092C>T (p.Ser364=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156043	NM_002591.4(PCK1):c.495C>T (p.Tyr165=)	PCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144083	NM_002591.4(PCK1):c.916G>A (p.Glu306Lys)	PCK1 (E306K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2139305	NM_002591.4(PCK1):c.1096G>A (p.Gly366Arg)	PCK1 (G366R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110246	NM_002591.4(PCK1):c.1705C>A (p.Leu569Met)	PCK1 (L569M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103797	NM_002591.4(PCK1):c.1186+8C>G	PCK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080600	NM_002591.4(PCK1):c.971G>A (p.Arg324Lys)	PCK1 (R324K)	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 2074047	NM_002591.4(PCK1):c.43G>T (p.Val15Phe)	PCK1 (V15F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2069176	NM_002591.4(PCK1):c.496G>A (p.Val166Met)	PCK1 (V166M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068799	NM_002591.4(PCK1):c.962-5T>C	PCK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050011	NM_002591.4(PCK1):c.913G>T (p.Val305Phe)	PCK1 (V305F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043973	NM_002591.4(PCK1):c.1307G>A (p.Arg436His)	PCK1 (R436H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006082	NM_002591.4(PCK1):c.1015A>G (p.Thr339Ala)	PCK1 (T339A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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