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

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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)	Erythrocytosis, familial, 3 +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)	not specified +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)	Erythrocytosis, familial, 3 +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)	not specified +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)	LOC129932769, EGLN1 (K291R)	Single nucleotide variant (missense variant)	not specified +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)	Erythrocytosis, familial, 3 +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)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 65