p.Glu294Lys[varname] - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126938	NM_001145210.3(ANKRD65):c.880G>A (p.Glu294Lys)	ANKRD65 (E294K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1712632	NM_015215.4(CAMTA1):c.3751G>A (p.Glu1251Lys)	CAMTA1, LOC126805603 (E1221K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2208151	NM_001009566.3(CLSTN1):c.880G>A (p.Glu294Lys)	CLSTN1 (E284K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1456678	NM_001286.5(CLCN6):c.946G>A (p.Glu316Lys)	CLCN6 (E294K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1464585	NM_006279.5(ST3GAL3):c.835G>A (p.Glu279Lys)	ST3GAL3 (E186K +8 more)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3202426	NM_199044.4(NSUN4):c.952G>A (p.Glu318Lys)	NSUN4 (E269K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1971253	NM_000098.3(CPT2):c.880G>A (p.Glu294Lys)	CPT2 (E294K)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2604617	NM_000565.4(IL6R):c.886G>A (p.Glu296Lys)	IL6R (E296K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391109	NM_020524.4(PBXIP1):c.880G>A (p.Glu294Lys)	PBXIP1 (E294K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362887	NM_001105669.4(TTC24):c.880G>A (p.Glu294Lys)	TTC24 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764753	NM_002432.3(MNDA):c.880G>A (p.Glu294Lys)	MNDA (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 294547	NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)	CFHR5 (E294K)	Single nucleotide variant (missense variant)	CFHR5 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2312588	NM_001684.5(ATP2B4):c.880G>A (p.Glu294Lys)	ATP2B4 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443381	NM_001034116.2(EIF2B4):c.880G>A (p.Glu294Lys)	EIF2B4, GTF3C2-AS2 (E294K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 471167	NM_001365536.1(SCN9A):c.880G>A (p.Glu294Lys)	SCN9A (E294K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 992952	NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)	LARS2 (E294K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1523578	NM_001377540.1(SLMAP):c.880G>A (p.Glu294Lys)	SLMAP (E294K)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +1 more	GUncertain significance
Select item 3266380	NM_182628.3(CFAP100):c.880G>A (p.Glu294Lys)	CFAP100 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211347	NM_001199201.2(ZBBX):c.880G>A (p.Glu294Lys)	ZBBX (E265K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 642803	NM_014476.6(PDLIM3):c.1024G>A (p.Glu342Lys)	PDLIM3 (E294K +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1898794	NM_000163.5(GHR):c.950G>A (p.Gly317Glu)	GHR (G317E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356435	NM_001042406.2(HMGCLL1):c.880G>A (p.Glu294Lys)	HMGCLL1 (E191K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 908494	NM_177924.5(ASAH1):c.898G>A (p.Glu300Lys)	ASAH1 (E300K +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +1 more	GUncertain significance
Select item 2310078	NM_173833.6(SCARA5):c.1009G>A (p.Glu337Lys)	LOC105379342, SCARA5 (E294K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517665	NM_023110.3(FGFR1):c.880G>A (p.Glu294Lys)	FGFR1 (E294K +5 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GPathogenic
Select item 1466361	NM_033402.5(LRRCC1):c.880G>A (p.Glu294Lys)	LRRCC1 (E201K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 361900	NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys)	DNAAF11 (E434K +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2634194	NM_025103.4(IFT74):c.880G>A (p.Glu294Lys)	IFT74 (E294K)	Single nucleotide variant (missense variant)	IFT74-related disorder	GUncertain significance
Select item 2390869	NM_014397.6(NEK6):c.826G>A (p.Glu276Lys)	NEK6 (E294K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223899	NM_001330988.2(SLC25A25):c.982G>A (p.Glu328Lys)	SLC25A25 (E314K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2152360	NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)	NOTCH1 (E294K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 3128573	NM_020824.4(ARHGAP21):c.1519G>A (p.Glu507Lys)	ARHGAP21 (E294K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 432780	NM_020975.6(RET):c.1009G>A (p.Glu337Lys)	RET (E337K +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 409013	NM_013266.4(CTNNA3):c.880G>A (p.Glu294Lys)	CTNNA3 (E294K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GUncertain significance
Select item 3127322	NM_001156.5(ANXA7):c.814G>A (p.Glu272Lys)	ANXA7 (E232K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1981990	NM_002599.5(PDE2A):c.901G>A (p.Glu301Lys)	PDE2A (E292K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3309465	NM_001040118.3(ARAP1):c.1615G>A (p.Glu539Lys)	ARAP1 (E294K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437177	NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	TYR (E294K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 3218339	NM_199437.2(PRDM10):c.946G>A (p.Glu316Lys)	PRDM10 (E316K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485564	NM_002281.4(KRT81):c.880G>A (p.Glu294Lys)	KRT81, KRT86 (E294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590868	NM_001320198.2(KRT86):c.880G>A (p.Glu294Lys)	KRT81, KRT86 (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184897	NM_017612.5(ZCCHC8):c.880G>A (p.Glu294Lys)	ZCCHC8 (E195K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3154334	NM_001393629.1(RIMBP2):c.931G>A (p.Glu311Lys)	RIMBP2 (E202K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 918109	NM_000059.4(BRCA2):c.880G>A (p.Glu294Lys)	BRCA2 (E294K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 724606	NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys)	DACT1 (E294K +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2 +1 more	GBenign/Likely benign
Select item 2511105	NM_147188.3(FBXO22):c.880G>A (p.Glu294Lys)	FBXO22 (E294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277852	NM_032039.4(FAM234A):c.880G>A (p.Glu294Lys)	FAM234A (E294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091501	NM_024306.5(FA2H):c.880G>A (p.Glu294Lys)	FA2H (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1001614	NM_000546.6(TP53):c.880G>A (p.Glu294Lys)	TP53 (E135K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 948520	NM_144997.7(FLCN):c.880G>A (p.Glu294Lys)	FLCN (E294K +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
Select item 1517417	NM_003079.5(SMARCE1):c.880G>A (p.Glu294Lys)	SMARCE1 (E294K)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 2480533	NM_002275.4(KRT15):c.880G>A (p.Glu294Lys)	KRT15 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 216670	NM_007294.4(BRCA1):c.4693G>A (p.Glu1565Lys)	BRCA1 (E1565K +77 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 54179	NM_007294.4(BRCA1):c.1261G>A (p.Glu421Lys)	BRCA1 (E421K +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 262560	NM_145020.5(CFAP53):c.880G>A (p.Glu294Lys)	CFAP53 (E294K)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 6, autosomal +2 more	GBenign
Select item 1995510	NM_003839.4(TNFRSF11A):c.1717G>A (p.Glu573Lys)	TNFRSF11A (E256K +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2891272	NM_002067.5(GNA11):c.880G>A (p.Glu294Lys)	GNA11 (E294K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 956441	NM_006949.4(STXBP2):c.847G>A (p.Glu283Lys)	STXBP2 (E283K +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 2086358	NM_030957.4(ADAMTS10):c.2419G>A (p.Glu807Lys)	ADAMTS10 (E807K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 863226	NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys)	RNASEH2A (E294K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4 +1 more	GUncertain significance
Select item 1301663	NM_000175.5(GPI):c.880G>A (p.Glu294Lys)	GPI (E266K +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 590621	NM_000540.3(RYR1):c.880G>A (p.Glu294Lys)	RYR1 (E294K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +4 more	GUncertain significance
Select item 1043443	NM_004706.4(ARHGEF1):c.880G>A (p.Glu294Lys)	ARHGEF1 (E261K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480732	NM_001394376.1(POU2F2):c.649G>A (p.Glu217Lys)	POU2F2 (E179K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1312270	NM_001386298.1(CIC):c.3607G>A (p.Glu1203Lys)	CIC (E1203K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1764754	NM_000400.4(ERCC2):c.880G>A (p.Glu294Lys)	ERCC2 (E270K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335755	NM_006247.4(PPP5C):c.946G>A (p.Glu316Lys)	PPP5C (E294K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 953164	NM_001364171.2(ODAD1):c.991G>A (p.Glu331Lys)	ODAD1 (E294K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2357086	NM_023074.4(ZNF649):c.880G>A (p.Glu294Lys)	ZNF649, ZNF649-AS1 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3028533	NM_006899.5(IDH3B):c.880G>A (p.Glu294Lys)	IDH3B (E294K)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 2284124	NM_080627.4(MTCL2):c.880G>A (p.Glu294Lys)	MTCL2 (E56K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231994	NM_020433.5(JPH2):c.880G>A (p.Glu294Lys)	JPH2 (E294K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 543533	NM_000744.7(CHRNA4):c.880G>A (p.Glu294Lys)	CHRNA4 (E294K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1195949	NM_000071.3(CBS):c.1195G>A (p.Glu399Lys)	CBS (E294K +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 2452587	NM_003073.5(SMARCB1):c.853G>A (p.Glu285Lys)	SMARCB1 (E294K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1037917	NM_000268.4(NF2):c.1003G>A (p.Glu335Lys)	NF2 (E335K +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2512842	NM_013385.5(CYTH4):c.1051G>A (p.Glu351Lys)	CYTH4, LOC126863142 (E294K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161248	NM_018957.6(SH3BP1):c.880G>A (p.Glu294Lys)	PDXP-DT, SH3BP1 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412466	NM_015374.3(SUN2):c.817G>A (p.Glu273Lys)	GTPBP1, SUN2 (E243K +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2653368	NM_031454.2(SELENOO):c.880G>A (p.Glu294Lys)	SELENOO, SELENOO-AS1 (E294K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 445919	NM_000381.4(MID1):c.757-5745G>A	MID1 (E294K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2588076	NM_001168474.2(TAF7L):c.1102G>A (p.Glu368Lys)	TAF7L (E368K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2097590	NM_001183.6(ATP6AP1):c.880G>A (p.Glu294Lys)	ATP6AP1 (E294K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 83