Related gene-specific medical variations for Gene (Select 54583) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3274784	NM_022051.3(EGLN1):c.861G>C (p.Leu287=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3274761	NM_022051.3(EGLN1):c.858G>T (p.Lys286Asn)	EGLN1, LOC129932769 (K286N)	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 2876425	NM_022051.3(EGLN1):c.848G>C (p.Cys283Ser)	EGLN1, LOC129932769 (C283S)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 2866385	NM_022051.3(EGLN1):c.871A>G (p.Lys291Glu)	EGLN1, LOC129932769 (K291E)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 2805511	NM_022051.3(EGLN1):c.891+8T>C	EGLN1, LOC129932769	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 2739887	NM_022051.3(EGLN1):c.855G>A (p.Gly285=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 2737786	NM_022051.3(EGLN1):c.791C>T (p.Pro264Leu)	EGLN1, LOC129932769 (P264L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 2730997	NM_022051.3(EGLN1):c.834C>T (p.Asp278=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 2723609	NM_022051.3(EGLN1):c.824G>A (p.Ser275Asn)	EGLN1, LOC129932769 (S275N)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 2497589	NM_022051.3(EGLN1):c.814C>T (p.Leu272Phe)	EGLN1, LOC129932769 (L272F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457100	NM_022051.3(EGLN1):c.852C>T (p.Asn284=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2450380	NM_022051.3(EGLN1):c.815T>C (p.Leu272Pro)	EGLN1, LOC129932769 (L272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183341	NM_022051.3(EGLN1):c.891+17G>A	EGLN1, LOC129932769	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 2151920	NM_022051.3(EGLN1):c.826A>G (p.Met276Val)	EGLN1, LOC129932769 (M276V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1973949	NM_022051.3(EGLN1):c.891+10T>C	EGLN1, LOC129932769	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 1764991	NM_022051.3(EGLN1):c.888G>C (p.Thr296=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764877	NM_022051.3(EGLN1):c.884G>T (p.Arg295Leu)	EGLN1, LOC129932769 (R295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764836	NM_022051.3(EGLN1):c.883C>G (p.Arg295Gly)	EGLN1, LOC129932769 (R295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764797	NM_022051.3(EGLN1):c.882C>T (p.Gly294=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764694	NM_022051.3(EGLN1):c.879T>C (p.Asn293=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764654	NM_022051.3(EGLN1):c.878A>G (p.Asn293Ser)	EGLN1, LOC129932769 (N293S)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 1764331	NM_022051.3(EGLN1):c.869A>G (p.Tyr290Cys)	EGLN1, LOC129932769 (Y290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764321	NM_022051.3(EGLN1):c.868T>G (p.Tyr290Asp)	EGLN1, LOC129932769 (Y290D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764167	NM_022051.3(EGLN1):c.864C>T (p.Gly288=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1763784	NM_022051.3(EGLN1):c.853G>C (p.Gly285Arg)	EGLN1, LOC129932769 (G285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1763449	NM_022051.3(EGLN1):c.845A>G (p.His282Arg)	EGLN1, LOC129932769 (H282R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1763426	NM_022051.3(EGLN1):c.844C>T (p.His282Tyr)	EGLN1, LOC129932769 (H282Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1763384	NM_022051.3(EGLN1):c.843C>G (p.Arg281=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1763271	NM_022051.3(EGLN1):c.840A>G (p.Ile280Met)	EGLN1, LOC129932769 (I280M)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 1763077	NM_022051.3(EGLN1):c.835C>T (p.Leu279=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1762961	NM_022051.3(EGLN1):c.832G>T (p.Asp278Tyr)	EGLN1, LOC129932769 (D278Y)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 1762910	NM_022051.3(EGLN1):c.831C>T (p.Asp277=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 1762764	NM_022051.3(EGLN1):c.828G>A (p.Met276Ile)	EGLN1, LOC129932769 (M276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1762541	NM_022051.3(EGLN1):c.822C>G (p.Ser274Arg)	EGLN1, LOC129932769 (S274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1762464	NM_022051.3(EGLN1):c.820A>T (p.Ser274Cys)	EGLN1, LOC129932769 (S274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1762459	NM_022051.3(EGLN1):c.820A>C (p.Ser274Arg)	EGLN1, LOC129932769 (S274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1762224	NM_022051.3(EGLN1):c.815T>G (p.Leu272Arg)	EGLN1, LOC129932769 (L272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1762160	NM_022051.3(EGLN1):c.813G>A (p.Leu271=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +2 more	GLikely benign
Select item 1762075	NM_022051.3(EGLN1):c.811C>T (p.Leu271=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1762072	NM_022051.3(EGLN1):c.811C>G (p.Leu271Val)	EGLN1, LOC129932769 (L271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761911	NM_022051.3(EGLN1):c.807T>C (p.Ile269=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1761876	NM_022051.3(EGLN1):c.806T>C (p.Ile269Thr)	EGLN1, LOC129932769 (I269T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1761833	NM_022051.3(EGLN1):c.805A>T (p.Ile269Phe)	EGLN1, LOC129932769 (I269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761495	NM_022051.3(EGLN1):c.798C>T (p.Cys266=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1761269	NM_022051.3(EGLN1):c.792C>T (p.Pro264=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 1761169	NM_022051.3(EGLN1):c.790C>G (p.Pro264Ala)	EGLN1, LOC129932769 (P264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761095	NM_022051.3(EGLN1):c.789G>A (p.Glu263=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 1760911	NM_022051.3(EGLN1):c.785A>T (p.Lys262Met)	EGLN1, LOC129932769 (K262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1717826	NM_022051.3(EGLN1):c.866G>T (p.Ser289Ile)	EGLN1, LOC129932769 (S289I)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 1607572	NM_022051.3(EGLN1):c.816C>T (p.Leu272=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 1604340	NM_022051.3(EGLN1):c.780G>A (p.Glu260=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 1558629	NM_022051.3(EGLN1):c.891+17G>C	EGLN1, LOC129932769	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 3	GBenign
Select item 1058205	NM_022051.3(EGLN1):c.825C>T (p.Ser275=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 936285	NM_022051.3(EGLN1):c.872A>G (p.Lys291Arg)	EGLN1, LOC129932769 (K291R)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 860638	NM_022051.3(EGLN1):c.817A>G (p.Met273Val)	EGLN1, LOC129932769 (M273V)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 698428	NM_022051.3(EGLN1):c.843C>T (p.Arg281=)	EGLN1, LOC129932769	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 407208	NM_022051.3(EGLN1):c.833A>G (p.Asp278Gly)	EGLN1, LOC129932769 (D278G)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 407207	NM_022051.3(EGLN1):c.867C>G (p.Ser289Arg)	EGLN1, LOC129932769 (S289R)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 296189	NM_022051.3(EGLN1):c.832G>A (p.Asp278Asn)	EGLN1, LOC129932769 (D278N)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 3 +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65