ClinVar for Gene (Select 54583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337070	NM_022051.3(EGLN1):c.1183G>A (p.Glu395Lys)	EGLN1 (E395K)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3274804	NM_022051.3(EGLN1):c.565C>T (p.Pro189Ser)	EGLN1 (P189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274803	NM_022051.3(EGLN1):c.1112G>T (p.Arg371Leu)	EGLN1 (R371L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274802	NM_022051.3(EGLN1):c.1161T>C (p.Thr387=)	EGLN1 (C342R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3274801	NM_022051.3(EGLN1):c.616G>A (p.Gly206Ser)	EGLN1 (G206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274800	NM_022051.3(EGLN1):c.467T>G (p.Phe156Cys)	EGLN1 (F156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274799	NM_022051.3(EGLN1):c.673G>A (p.Glu225Lys)	EGLN1 (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274798	NM_022051.3(EGLN1):c.205G>A (p.Val69Met)	EGLN1 (V69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274797	NM_022051.3(EGLN1):c.33G>C (p.Pro11=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274796	NM_022051.3(EGLN1):c.1142C>G (p.Ala381Gly)	EGLN1 (A381G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274795	NM_022051.3(EGLN1):c.387G>T (p.Ala129=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274794	NM_022051.3(EGLN1):c.1225G>C (p.Gly409Arg)	EGLN1 (G409R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274793	NM_022051.3(EGLN1):c.39G>C (p.Pro13=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274792	NM_022051.3(EGLN1):c.884G>A (p.Arg295Gln)	EGLN1, LOC129932769 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274791	NM_022051.3(EGLN1):c.69G>A (p.Leu23=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274790	NM_022051.3(EGLN1):c.534C>A (p.Gly178=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274789	NM_022051.3(EGLN1):c.278C>G (p.Pro93Arg)	EGLN1 (P93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274788	NM_022051.3(EGLN1):c.418G>A (p.Ala140Thr)	EGLN1 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274787	NM_022051.3(EGLN1):c.682G>A (p.Ala228Thr)	EGLN1 (A228T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274786	NM_022051.3(EGLN1):c.77A>G (p.Lys26Arg)	EGLN1 (K26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274785	NM_022051.3(EGLN1):c.88C>G (p.Leu30Val)	EGLN1 (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274784	NM_022051.3(EGLN1):c.861G>C (p.Leu287=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274783	NM_022051.3(EGLN1):c.384T>C (p.Arg128=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274782	NM_022051.3(EGLN1):c.410C>T (p.Ala137Val)	EGLN1 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274781	NM_022051.3(EGLN1):c.995_1000del (p.Lys332_Trp334delinsArg)	EGLN1	Deletion (inframe_indel)	not specified	GUncertain significance
Select item 3274780	NM_022051.3(EGLN1):c.216C>G (p.His72Gln)	EGLN1 (H72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274779	NM_022051.3(EGLN1):c.341C>G (p.Ala114Gly)	EGLN1 (A114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274778	NM_022051.3(EGLN1):c.753C>T (p.Ile251=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274776	NM_022051.3(EGLN1):c.256C>T (p.Pro86Ser)	EGLN1 (P86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274775	NM_022051.3(EGLN1):c.26G>C (p.Gly9Ala)	EGLN1 (G9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274774	NM_022051.3(EGLN1):c.249G>A (p.Val83=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274773	NM_022051.3(EGLN1):c.579G>A (p.Leu193=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274772	NM_022051.3(EGLN1):c.468C>T (p.Phe156=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274771	NM_022051.3(EGLN1):c.369C>A (p.Ala123=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274770	NM_022051.3(EGLN1):c.953A>G (p.Asn318Ser)	EGLN1 (N318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274769	NM_022051.3(EGLN1):c.731A>G (p.Lys244Arg)	EGLN1 (K244R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274768	NM_022051.3(EGLN1):c.518T>A (p.Leu173Gln)	EGLN1 (L173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274767	NM_022051.3(EGLN1):c.131A>C (p.Lys44Thr)	EGLN1 (K44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274766	NM_022051.3(EGLN1):c.40A>T (p.Ser14Cys)	EGLN1 (S14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274764	NM_022051.3(EGLN1):c.799G>A (p.Glu267Lys)	EGLN1, LOC129932769 (E267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274763	NM_022051.3(EGLN1):c.159G>A (p.Lys53=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274762	NM_022051.3(EGLN1):c.722T>C (p.Val241Ala)	EGLN1 (V241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274761	NM_022051.3(EGLN1):c.858G>T (p.Lys286Asn)	EGLN1, LOC129932769 (K286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274760	NM_022051.3(EGLN1):c.452C>T (p.Ala151Val)	EGLN1 (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274757	NM_022051.3(EGLN1):c.456C>G (p.Arg152=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274756	NM_022051.3(EGLN1):c.393C>G (p.Ala131=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274755	NM_022051.3(EGLN1):c.562C>A (p.Leu188Met)	EGLN1 (L188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256514	NM_022051.3(EGLN1):c.1111C>T (p.Arg371Cys)	EGLN1 (R371C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227749	NM_022051.3(EGLN1):c.979A>G (p.Ile327Val)	EGLN1 (I327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227747	NM_022051.3(EGLN1):c.825C>A (p.Ser275Arg)	EGLN1, LOC129932769 (S275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227746	NM_022051.3(EGLN1):c.818T>A (p.Met273Lys)	EGLN1, LOC129932769 (M273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227745	NM_022051.3(EGLN1):c.803C>T (p.Thr268Ile)	EGLN1, LOC129932769 (T268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227744	NM_022051.3(EGLN1):c.781G>A (p.Gly261Ser)	EGLN1, LOC129932769 (G261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227743	NM_022051.3(EGLN1):c.740C>T (p.Ser247Leu)	EGLN1 (S247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227742	NM_022051.3(EGLN1):c.711C>A (p.Asp237Glu)	EGLN1 (D237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227741	NM_022051.3(EGLN1):c.707C>A (p.Thr236Lys)	EGLN1 (T236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227740	NM_022051.3(EGLN1):c.705C>T (p.Phe235=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227739	NM_022051.3(EGLN1):c.702G>C (p.Lys234Asn)	EGLN1 (K234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227738	NM_022051.3(EGLN1):c.684C>T (p.Ala228=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227737	NM_022051.3(EGLN1):c.66G>A (p.Glu22=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227735	NM_022051.3(EGLN1):c.663G>T (p.Gln221His)	EGLN1 (Q221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227734	NM_022051.3(EGLN1):c.662_663delinsGT (p.Gln221Arg)	EGLN1 (Q221R)	Indel (missense variant)	not specified	GUncertain significance
Select item 3227733	NM_022051.3(EGLN1):c.64G>C (p.Glu22Gln)	EGLN1 (E22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227732	NM_022051.3(EGLN1):c.639C>T (p.Phe213=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227731	NM_022051.3(EGLN1):c.609C>G (p.Asn203Lys)	EGLN1 (N203K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3227730	NM_022051.3(EGLN1):c.608A>T (p.Asn203Ile)	EGLN1 (N203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227729	NM_022051.3(EGLN1):c.54G>A (p.Arg18=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227728	NM_022051.3(EGLN1):c.543C>T (p.Pro181=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227727	NM_022051.3(EGLN1):c.539G>T (p.Arg180Leu)	EGLN1 (R180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227725	NM_022051.3(EGLN1):c.510G>C (p.Gly170=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227724	NM_022051.3(EGLN1):c.508G>A (p.Gly170Arg)	EGLN1 (G170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227723	NM_022051.3(EGLN1):c.504G>A (p.Thr168=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227722	NM_022051.3(EGLN1):c.494C>T (p.Pro165Leu)	EGLN1 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227721	NM_022051.3(EGLN1):c.490C>G (p.Pro164Ala)	EGLN1 (P164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227720	NM_022051.3(EGLN1):c.459A>T (p.Ser153=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227719	NM_022051.3(EGLN1):c.447G>T (p.Pro149=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227718	NM_022051.3(EGLN1):c.443A>G (p.Glu148Gly)	EGLN1 (E148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227717	NM_022051.3(EGLN1):c.438G>C (p.Lys146Asn)	EGLN1 (K146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227716	NM_022051.3(EGLN1):c.429G>C (p.Glu143Asp)	EGLN1 (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227715	NM_022051.3(EGLN1):c.401A>T (p.Gln134Leu)	EGLN1 (Q134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227713	NM_022051.3(EGLN1):c.368C>T (p.Ala123Val)	EGLN1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227712	NM_022051.3(EGLN1):c.367G>C (p.Ala123Pro)	EGLN1 (A123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227711	NM_022051.3(EGLN1):c.366G>T (p.Ala122=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227710	NM_022051.3(EGLN1):c.360A>G (p.Pro120=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227709	NM_022051.3(EGLN1):c.336A>G (p.Val112=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227708	NM_022051.3(EGLN1):c.32C>A (p.Pro11Gln)	EGLN1 (P11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227707	NM_022051.3(EGLN1):c.317A>T (p.Asp106Val)	EGLN1 (D106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227706	NM_022051.3(EGLN1):c.285G>A (p.Lys95=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227705	NM_022051.3(EGLN1):c.271C>G (p.Arg91Gly)	EGLN1 (R91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227704	NM_022051.3(EGLN1):c.269C>A (p.Ala90Asp)	EGLN1 (A90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227703	NM_022051.3(EGLN1):c.258C>T (p.Pro86=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227702	NM_022051.3(EGLN1):c.255G>A (p.Pro85=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227701	NM_022051.3(EGLN1):c.239C>G (p.Pro80Arg)	EGLN1 (P80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227700	NM_022051.3(EGLN1):c.236C>A (p.Pro79Gln)	EGLN1 (P79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227699	NM_022051.3(EGLN1):c.231C>T (p.Pro77=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227698	NM_022051.3(EGLN1):c.189C>G (p.Gly63=)	EGLN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227696	NM_022051.3(EGLN1):c.176A>G (p.Gln59Arg)	EGLN1 (Q59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227695	NM_022051.3(EGLN1):c.143G>A (p.Arg48His)	EGLN1 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227694	NM_022051.3(EGLN1):c.133G>C (p.Glu45Gln)	EGLN1 (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227693	NM_022051.3(EGLN1):c.1270G>A (p.Asp424Asn)	EGLN1 (D424N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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