"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "EPAS1"[ - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2965459	NM_001430.5(EPAS1):c.26+12T>C	EPAS1, LOC129933655	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 897664	NM_001430.5(EPAS1):c.41G>A (p.Arg14Lys)	EPAS1 (R14K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1766838	NM_001430.5(EPAS1):c.93G>A (p.Thr31=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1769865	NM_001430.5(EPAS1):c.131C>T (p.Pro44Leu)	EPAS1 (P44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2712979	NM_001430.5(EPAS1):c.217+11C>G	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021276	NM_001430.5(EPAS1):c.217+17C>T	EPAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2776122	NM_001430.5(EPAS1):c.218-10_218-8del	EPAS1	Deletion (intron variant)	not provided	GBenign
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 2776123	NM_001430.5(EPAS1):c.218-9_218-8insGCTCT	EPAS1	Insertion (intron variant)	not provided	GLikely benign
Select item 898828	NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys)	EPAS1 (E80K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3005170	NM_001430.5(EPAS1):c.262G>C (p.Asp88His)	EPAS1 (D88H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863338	NM_001430.5(EPAS1):c.272A>G (p.Tyr91Cys)	EPAS1 (Y91C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896407	NM_001430.5(EPAS1):c.455-9C>T	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	not provided	GLikely 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 2818546	NM_001430.5(EPAS1):c.573+7C>A	LOC126806210, EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981062	NM_001430.5(EPAS1):c.574-12C>T	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 336248	NM_001430.5(EPAS1):c.574-11G>A	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 1750308	NM_001430.5(EPAS1):c.588G>A (p.Thr196=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2977672	NM_001430.5(EPAS1):c.691C>T (p.His231Tyr)	EPAS1, LOC126806210 (H231Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456528	NM_001430.5(EPAS1):c.722G>A (p.Ser241Asn)	EPAS1, LOC126806210 (S241N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1758962	NM_001430.5(EPAS1):c.744C>T (p.His248=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 336251	NM_001430.5(EPAS1):c.779+8G>T	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 2958840	NM_001430.5(EPAS1):c.779+13G>A	EPAS1, LOC126806210	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 336252	NM_001430.5(EPAS1):c.780-15T>A	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2052050	NM_001430.5(EPAS1):c.818T>G (p.Leu273Arg)	EPAS1 (L273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 795081	NM_001430.5(EPAS1):c.948C>T (p.Tyr316=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 336256	NM_001430.5(EPAS1):c.1035-15T>C	EPAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2718727	NM_001430.5(EPAS1):c.1035-7C>A	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 336260	NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)	EPAS1 (M368I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 787228	NM_001430.5(EPAS1):c.1113C>T (p.Asn371=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 336261	NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)	EPAS1 (F374Y)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 722349	NM_001430.5(EPAS1):c.1191C>T (p.Pro397=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1950294	NM_001430.5(EPAS1):c.1192G>A (p.Glu398Lys)	EPAS1 (E398K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737461	NM_001430.5(EPAS1):c.1218C>G (p.Thr406=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3020575	NM_001430.5(EPAS1):c.1250-20C>T	EPAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2710940	NM_001430.5(EPAS1):c.1250-4A>T	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2565069	NM_001430.5(EPAS1):c.1271C>A (p.Ser424Tyr)	EPAS1 (S424Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1767791	NM_001430.5(EPAS1):c.1280A>T (p.Tyr427Phe)	EPAS1 (Y427F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2724214	NM_001430.5(EPAS1):c.1316C>G (p.Ala439Gly)	EPAS1 (A439G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 736039	NM_001430.5(EPAS1):c.1380C>T (p.Pro460=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2152754	NM_001430.5(EPAS1):c.1394C>T (p.Pro465Leu)	EPAS1 (P465L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2710941	NM_001430.5(EPAS1):c.1402A>G (p.Thr468Ala)	EPAS1 (T468A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959028	NM_001430.5(EPAS1):c.1444-16C>G	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2151931	NM_001430.5(EPAS1):c.1555-121C>T	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075238	NM_001430.5(EPAS1):c.1556C>T (p.Thr519Met)	EPAS1 (T519M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203062	NM_001430.5(EPAS1):c.1589C>T (p.Ala530Val)	EPAS1 (A530V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6469	NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg)	EPAS1 (G537R)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GPathogenic
Select item 1049139	NM_001430.5(EPAS1):c.1700T>C (p.Met567Thr)	EPAS1 (M567T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1779414	NM_001430.5(EPAS1):c.1752C>G (p.Leu584=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 336267	NM_001430.5(EPAS1):c.1824C>G (p.Phe608Leu)	EPAS1 (F608L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 726022	NM_001430.5(EPAS1):c.1834G>A (p.Gly612Arg)	EPAS1 (G612R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1781392	NM_001430.5(EPAS1):c.1855C>T (p.Pro619Ser)	EPAS1 (P619S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 336269	NM_001430.5(EPAS1):c.1908T>C (p.Asn636=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 2808542	NM_001430.5(EPAS1):c.1915T>C (p.Trp639Arg)	EPAS1 (W639R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2696502	NM_001430.5(EPAS1):c.1926T>G (p.Asp642Glu)	EPAS1 (D642E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2710942	NM_001430.5(EPAS1):c.1930C>A (p.Pro644Thr)	EPAS1 (P644T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2565038	NM_001430.5(EPAS1):c.1942G>A (p.Gly648Arg)	EPAS1 (G648R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2370014	NM_001430.5(EPAS1):c.1972C>T (p.Arg658Cys)	EPAS1 (R658C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 336271	NM_001430.5(EPAS1):c.2045+8dup	EPAS1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2803973	NM_001430.5(EPAS1):c.2045+20C>T	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803974	NM_001430.5(EPAS1):c.2046-5G>C	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1786196	NM_001430.5(EPAS1):c.2118G>A (p.Leu706=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 895931	NM_001430.5(EPAS1):c.2166G>A (p.Leu722=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 336273	NM_001430.5(EPAS1):c.2171G>A (p.Gly724Glu)	EPAS1 (G724E)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +2 more	GBenign/Likely benign
Select item 2701181	NM_001430.5(EPAS1):c.2173-20T>C	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775711	NM_001430.5(EPAS1):c.2255C>T (p.Pro752Leu)	EPAS1 (P752L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2899871	NM_001430.5(EPAS1):c.2287+10G>A	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 336274	NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro)	EPAS1 (T766P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 336275	NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr)	EPAS1 (P785T)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 336277	NM_001430.5(EPAS1):c.2367C>T (p.Ile789=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 336279	NM_001430.5(EPAS1):c.2457G>A (p.Val819=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 2806962	NM_001430.5(EPAS1):c.2478G>C (p.Leu826=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1792346	NM_001430.5(EPAS1):c.2508G>A (p.Leu836=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1793130	NM_001430.5(EPAS1):c.2562C>T (p.Ser854=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2425909	NC_000002.11:g.(?_46525051)_(46851366_?)dup	ATP6V1E2, CRIPT +4 more	Duplication	not provided	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 429039	NC_000002.11:g.38121110_47669522inv	HNRNPLL, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic

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Items: 83