"Illumina Laboratory Services, Illumina"[submitter] AND "EPAS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336218	NM_001430.5(EPAS1):c.-472G>A	EPAS1, LOC129933654	Single nucleotide variant (5 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 336219	NM_001430.5(EPAS1):c.-471C>T	EPAS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 336220	NM_001430.5(EPAS1):c.-452A>C	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 895789	NM_001430.5(EPAS1):c.-401G>A	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 895790	NM_001430.5(EPAS1):c.-357G>C	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336221	NM_001430.5(EPAS1):c.-341dup	EPAS1	Duplication (5 prime UTR variant)	Familial erythrocytosis	GBenign
Select item 336222	NM_001430.5(EPAS1):c.-347T>G	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336223	NM_001430.5(EPAS1):c.-316C>A	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336224	NM_001430.5(EPAS1):c.-255G>T	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 895791	NM_001430.5(EPAS1):c.-237C>G	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336225	NM_001430.5(EPAS1):c.-231C>G	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336226	NM_001430.5(EPAS1):c.-200A>C	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336227	NM_001430.5(EPAS1):c.-140G>A	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 336228	NM_001430.5(EPAS1):c.-138G>T	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336229	NM_001430.5(EPAS1):c.-111G>C	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336230	NM_001430.5(EPAS1):c.-102C>G	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 896076	NM_001430.5(EPAS1):c.-92G>A	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336231	NM_001430.5(EPAS1):c.-86C>T	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336232	NM_001430.5(EPAS1):c.-58dup	EPAS1, LOC129933655	Duplication (5 prime UTR variant)	not provided +1 more	GBenign
Select item 336233	NM_001430.5(EPAS1):c.-4G>A	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 896077	NM_001430.5(EPAS1):c.26+7G>C	EPAS1, LOC129933655	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4	GBenign
Select item 336234	NM_001430.5(EPAS1):c.26+8G>A	EPAS1, LOC129933655	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 897664	NM_001430.5(EPAS1):c.41G>A (p.Arg14Lys)	EPAS1 (R14K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +2 more	GBenign/Likely benign
Select item 336235	NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr)	EPAS1 (S49Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 897665	NM_001430.5(EPAS1):c.192G>T (p.Leu64=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 336236	NM_001430.5(EPAS1):c.218-14_218-13insG	EPAS1	Insertion (intron variant)	Familial erythrocytosis +1 more	GLikely benign
Select item 336238	NM_001430.5(EPAS1):c.218-12C>T	EPAS1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4	GBenign
Select item 336237	NM_001430.5(EPAS1):c.218-12C>A	EPAS1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 336242	NM_001430.5(EPAS1):c.218-11C>T	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 336241	NM_001430.5(EPAS1):c.218-11C>G	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 336240	NM_001430.5(EPAS1):c.218-11_218-10insG	EPAS1	Insertion (intron variant)	Familial erythrocytosis	GUncertain significance
Select item 336239	NM_001430.5(EPAS1):c.218-10_218-9insTC	EPAS1	Insertion (intron variant)	Familial erythrocytosis	GUncertain significance
Select item 336243	NM_001430.5(EPAS1):c.218-10C>A	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 336246	NM_001430.5(EPAS1):c.218-9C>T	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 336245	NM_001430.5(EPAS1):c.218-9_218-8insT	EPAS1	Insertion (intron variant)	not provided +1 more	GBenign
Select item 336244	NM_001430.5(EPAS1):c.218-8_218-7dup	EPAS1	Duplication (intron variant)	EPAS1-related condition +1 more	GBenign/Likely benign
Select item 898828	NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys)	EPAS1 (E80K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 898829	NM_001430.5(EPAS1):c.345C>T (p.Ile115=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 336247	NM_001430.5(EPAS1):c.525G>A (p.Thr175=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 336248	NM_001430.5(EPAS1):c.574-11G>A	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 336249	NM_001430.5(EPAS1):c.574-5C>G	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	EPAS1-related condition +2 more	GBenign/Likely benign
Select item 895866	NM_001430.5(EPAS1):c.587C>A (p.Thr196Lys)	EPAS1, LOC126806210 (T196K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GLikely benign
Select item 895867	NM_001430.5(EPAS1):c.591C>A (p.Gly197=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 336250	NM_001430.5(EPAS1):c.768C>T (p.Tyr256=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 336251	NM_001430.5(EPAS1):c.779+8G>T	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 336252	NM_001430.5(EPAS1):c.780-15T>A	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 336253	NM_001430.5(EPAS1):c.858C>T (p.Ser286=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 895868	NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys)	EPAS1 (E287K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GLikely benign
Select item 336254	NM_001430.5(EPAS1):c.861G>A (p.Glu287=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336255	NM_001430.5(EPAS1):c.882G>C (p.Gln294His)	EPAS1 (Q294H)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 896137	NM_001430.5(EPAS1):c.886+12G>A	EPAS1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4 +1 more	GLikely benign
Select item 896138	NM_001430.5(EPAS1):c.993C>T (p.Asn331=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 336256	NM_001430.5(EPAS1):c.1035-15T>C	EPAS1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 336257	NM_001430.5(EPAS1):c.1035-6del	EPAS1	Deletion (intron variant)	Familial erythrocytosis	GUncertain significance
Select item 336258	NM_001430.5(EPAS1):c.1035-7C>G	EPAS1	Single nucleotide variant (intron variant)	sorafenib response - Toxicity	Gdrug response
Select item 336259	NM_001430.5(EPAS1):c.1035-6C>G	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 896139	NM_001430.5(EPAS1):c.1077T>C (p.Thr359=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +2 more	GBenign/Likely benign
Select item 336260	NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)	EPAS1 (M368I)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 336261	NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)	EPAS1 (F374Y)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 897741	NM_001430.5(EPAS1):c.1203C>A (p.Ala401=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 336262	NM_001430.5(EPAS1):c.1206G>A (p.Gln402=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336263	NM_001430.5(EPAS1):c.1228G>A (p.Ala410Thr)	EPAS1 (A410T)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GBenign
Select item 897742	NM_001430.5(EPAS1):c.1248C>T (p.Phe416=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 336264	NM_001430.5(EPAS1):c.1263C>T (p.Phe421=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 435064	NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=)	EPAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 336265	NM_001430.5(EPAS1):c.1554+7G>A	EPAS1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4	GLikely benign
Select item 898892	NM_001430.5(EPAS1):c.1658C>T (p.Ala553Val)	EPAS1 (A553V)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 336266	NM_001430.5(EPAS1):c.1737G>A (p.Pro579=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 898893	NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336267	NM_001430.5(EPAS1):c.1824C>G (p.Phe608Leu)	EPAS1 (F608L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 336268	NM_001430.5(EPAS1):c.1833C>T (p.Ala611=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 336269	NM_001430.5(EPAS1):c.1908T>C (p.Asn636=)	EPAS1	Single nucleotide variant (synonymous variant)	EPAS1-related condition +2 more	GBenign
Select item 898894	NM_001430.5(EPAS1):c.1960G>A (p.Val654Ile)	EPAS1 (V654I)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 336270	NM_001430.5(EPAS1):c.2010T>C (p.Pro670=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 336271	NM_001430.5(EPAS1):c.2045+8dup	EPAS1	Duplication (intron variant)	Familial erythrocytosis +1 more	GBenign/Likely benign
Select item 336272	NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala)	EPAS1 (S703A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 895930	NM_001430.5(EPAS1):c.2113A>G (p.Lys705Glu)	EPAS1 (K705E)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 895931	NM_001430.5(EPAS1):c.2166G>A (p.Leu722=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +2 more	GBenign/Likely benign
Select item 336273	NM_001430.5(EPAS1):c.2171G>A (p.Gly724Glu)	EPAS1 (G724E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 895932	NM_001430.5(EPAS1):c.2276A>G (p.Asn759Ser)	EPAS1 (N759S)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GBenign
Select item 336274	NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro)	EPAS1 (T766P)	Single nucleotide variant (missense variant)	EPAS1-related condition +2 more	GBenign
Select item 336275	NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr)	EPAS1 (P785T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 336276	NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val)	EPAS1 (I789V)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336277	NM_001430.5(EPAS1):c.2367C>T (p.Ile789=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 336278	NM_001430.5(EPAS1):c.2392A>G (p.Arg798Gly)	EPAS1 (R798G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 336279	NM_001430.5(EPAS1):c.2457G>A (p.Val819=)	EPAS1	Single nucleotide variant (synonymous variant)	EPAS1-related condition +2 more	GBenign/Likely benign
Select item 896208	NM_001430.5(EPAS1):c.2473C>T (p.Arg825Trp)	EPAS1 (R825W)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 336280	NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln)	EPAS1 (R825Q)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336281	NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp)	EPAS1 (E832D)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336282	NM_001430.5(EPAS1):c.2511C>T (p.Pro837=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 336283	NM_001430.5(EPAS1):c.*54C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336284	NM_001430.5(EPAS1):c.*90C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336285	NM_001430.5(EPAS1):c.*111A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336286	NM_001430.5(EPAS1):c.*117T>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 897813	NM_001430.5(EPAS1):c.*150T>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336287	NM_001430.5(EPAS1):c.*208T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 897814	NM_001430.5(EPAS1):c.*262A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 897815	NM_001430.5(EPAS1):c.*285C>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336288	NM_001430.5(EPAS1):c.*349T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336289	NM_001430.5(EPAS1):c.*354G>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign

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