ClinVar for Gene (Select 23392) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 171

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274445	NM_001364929.1(ECPAS):c.3079A>C (p.Met1027Leu)	ECPAS (M1027L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274444	NM_001364929.1(ECPAS):c.4415C>A (p.Ala1472Glu)	ECPAS (A1478E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274443	NM_001364929.1(ECPAS):c.2395A>G (p.Thr799Ala)	ECPAS (T799A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274442	NC_000009.12:g.111484687T>C	ECPAS	Single nucleotide variant	not specified	GUncertain significance
Select item 3274441	NM_001364929.1(ECPAS):c.-149G>A	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3274440	NM_001364929.1(ECPAS):c.2528C>T (p.Pro843Leu)	ECPAS (P849L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274439	NM_001364929.1(ECPAS):c.4957A>G (p.Ile1653Val)	ECPAS (I1653V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274438	NM_001364929.1(ECPAS):c.2653G>A (p.Ala885Thr)	ECPAS (A891T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274437	NM_001364929.1(ECPAS):c.2456C>T (p.Pro819Leu)	ECPAS (P819L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274435	NM_001364929.1(ECPAS):c.4378A>G (p.Ile1460Val)	ECPAS (I1460V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274434	NM_001364929.1(ECPAS):c.-83+29G>C	ECPAS, LOC130002357	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3274433	NM_001364929.1(ECPAS):c.967G>A (p.Val323Ile)	ECPAS (V329I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274432	NM_001364929.1(ECPAS):c.-350G>C	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3274431	NM_001364929.1(ECPAS):c.1210A>C (p.Lys404Gln)	ECPAS (K410Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274430	NM_001364929.1(ECPAS):c.4633A>G (p.Met1545Val)	ECPAS (M1545V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274429	NM_001364929.1(ECPAS):c.4696G>A (p.Ala1566Thr)	ECPAS (A1572T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274428	NM_001364929.1(ECPAS):c.-83+36C>T	ECPAS, LOC130002357	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3274427	NM_001364929.1(ECPAS):c.5102C>T (p.Ala1701Val)	ECPAS (A1701V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274426	NM_001364929.1(ECPAS):c.4348A>G (p.Lys1450Glu)	ECPAS (K1450E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274424	NM_001364929.1(ECPAS):c.2095A>G (p.Ser699Gly)	ECPAS (S699G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087085	NM_001364929.1(ECPAS):c.424A>T (p.Met142Leu)	ECPAS (M142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087084	NC_000009.12:g.111484663C>G	ECPAS	Single nucleotide variant	not specified	GUncertain significance
Select item 3087083	NM_001364929.1(ECPAS):c.208C>G (p.Gln70Glu)	ECPAS (Q76E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087082	NM_001364929.1(ECPAS):c.185G>A (p.Arg62His)	ECPAS (R62H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087081	NM_001364929.1(ECPAS):c.154G>A (p.Val52Ile)	ECPAS (V52I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087080	NM_001364929.1(ECPAS):c.5507A>G (p.Glu1836Gly)	ECPAS (E1836G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087079	NM_001364929.1(ECPAS):c.5446A>T (p.Met1816Leu)	ECPAS (M1822L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087078	NM_001364929.1(ECPAS):c.5315A>G (p.Lys1772Arg)	ECPAS (K1772R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087077	NM_001364929.1(ECPAS):c.5233G>C (p.Glu1745Gln)	ECPAS (E1745Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087076	NM_001364929.1(ECPAS):c.5152C>T (p.Arg1718Trp)	ECPAS (R1718W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087075	NM_001364929.1(ECPAS):c.4999C>T (p.Arg1667Trp)	ECPAS (R1667W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087074	NM_001364929.1(ECPAS):c.4993G>A (p.Gly1665Arg)	ECPAS (G1671R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087073	NM_001364929.1(ECPAS):c.-83+116G>T	ECPAS, LOC130002357	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3087072	NC_000009.12:g.111484693A>T	ECPAS	Single nucleotide variant	not specified	GUncertain significance
Select item 3087071	NM_001364929.1(ECPAS):c.4808A>G (p.Asn1603Ser)	ECPAS (N1609S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3087070	NM_001364929.1(ECPAS):c.-83+105G>A	ECPAS, LOC130002357	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3087069	NM_001364929.1(ECPAS):c.4679T>C (p.Leu1560Pro)	ECPAS (L1560P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087068	NM_001364929.1(ECPAS):c.4601C>T (p.Ser1534Phe)	ECPAS (S1540F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087067	NM_001364929.1(ECPAS):c.-83+80C>G	ECPAS, LOC130002357	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3087066	NM_001364929.1(ECPAS):c.4477G>A (p.Glu1493Lys)	ECPAS (E1493K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087065	NM_001364929.1(ECPAS):c.4360G>A (p.Ala1454Thr)	ECPAS (A1460T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087064	NM_001364929.1(ECPAS):c.4352C>A (p.Thr1451Asn)	ECPAS (T1451N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087063	NM_001364929.1(ECPAS):c.4268G>A (p.Arg1423Gln)	ECPAS (R1423Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087062	NC_000009.12:g.111484699G>C	ECPAS	Single nucleotide variant	not specified	GUncertain significance
Select item 3087061	NM_001364929.1(ECPAS):c.4193C>T (p.Ala1398Val)	ECPAS (A1404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087060	NM_001364929.1(ECPAS):c.4159G>A (p.Asp1387Asn)	ECPAS (D1387N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087059	NM_001364929.1(ECPAS):c.-83+42C>T	ECPAS, LOC130002357	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3087058	NM_001364929.1(ECPAS):c.3938C>T (p.Ala1313Val)	ECPAS (A1319V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087057	NM_001364929.1(ECPAS):c.3860C>T (p.Ala1287Val)	ECPAS (A1293V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087056	NM_001364929.1(ECPAS):c.3785C>T (p.Thr1262Met)	ECPAS (T1262M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087055	NM_001364929.1(ECPAS):c.3776G>A (p.Ser1259Asn)	ECPAS (S1265N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087054	NM_001364929.1(ECPAS):c.3614G>A (p.Arg1205Lys)	ECPAS (R1205K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087053	NM_001364929.1(ECPAS):c.-95G>A	ECPAS, LOC130002357 (G4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087052	NM_001364929.1(ECPAS):c.3587T>G (p.Leu1196Arg)	ECPAS (L1196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087050	NM_001364929.1(ECPAS):c.-98A>T	ECPAS, LOC130002357 (T3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087049	NM_001364929.1(ECPAS):c.-128G>C	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3087048	NM_001364929.1(ECPAS):c.3262A>G (p.Met1088Val)	ECPAS (M1088V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087047	NM_001364929.1(ECPAS):c.3176C>T (p.Thr1059Ile)	ECPAS (T1059I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087046	NM_001364929.1(ECPAS):c.-138C>T	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3087045	NM_001364929.1(ECPAS):c.3124G>T (p.Val1042Leu)	ECPAS (V1042L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087044	NM_001364929.1(ECPAS):c.3101A>C (p.His1034Pro)	ECPAS (H1040P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087043	NM_001364929.1(ECPAS):c.3080T>C (p.Met1027Thr)	ECPAS (M1027T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087042	NM_001364929.1(ECPAS):c.-152C>T	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3087041	NM_001364929.1(ECPAS):c.2854G>A (p.Val952Met)	ECPAS (V958M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087040	NM_001364929.1(ECPAS):c.2839A>G (p.Ser947Gly)	ECPAS (S947G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087039	NM_001364929.1(ECPAS):c.2831A>G (p.His944Arg)	ECPAS (H944R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087038	NM_001364929.1(ECPAS):c.2749A>G (p.Thr917Ala)	ECPAS (T917A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087037	NM_001364929.1(ECPAS):c.2738C>G (p.Ala913Gly)	ECPAS (A913G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087036	NM_001364929.1(ECPAS):c.2558A>G (p.Glu853Gly)	ECPAS (E853G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087035	NM_001364929.1(ECPAS):c.-200C>T	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3087034	NM_001364929.1(ECPAS):c.2551A>G (p.Met851Val)	ECPAS (M851V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087033	NM_001364929.1(ECPAS):c.-210G>C	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3087032	NM_001364929.1(ECPAS):c.2455C>G (p.Pro819Ala)	ECPAS (P825A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087031	NM_001364929.1(ECPAS):c.2365A>G (p.Thr789Ala)	ECPAS (T789A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087030	NM_001364929.1(ECPAS):c.2311C>G (p.Leu771Val)	ECPAS (L777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087029	NM_001364929.1(ECPAS):c.2294T>C (p.Met765Thr)	ECPAS (M765T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087028	NC_000009.12:g.111484719C>A	ECPAS	Single nucleotide variant	not specified	GUncertain significance
Select item 3087027	NM_001364929.1(ECPAS):c.2216G>T (p.Ser739Ile)	ECPAS (S739I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087025	NM_001364929.1(ECPAS):c.2203A>G (p.Lys735Glu)	ECPAS (K735E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087024	NM_001364929.1(ECPAS):c.-330G>C	ECPAS, LOC130002357	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3087023	NM_001364929.1(ECPAS):c.2045C>T (p.Ala682Val)	ECPAS (A688V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087022	NM_001364929.1(ECPAS):c.1952T>C (p.Ile651Thr)	ECPAS (I651T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087021	NM_001364929.1(ECPAS):c.1850C>A (p.Ala617Asp)	ECPAS (A617D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087020	NM_001364929.1(ECPAS):c.1717A>G (p.Met573Val)	ECPAS (M573V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087019	NM_001364929.1(ECPAS):c.1561C>T (p.Arg521Cys)	ECPAS (R527C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087017	NM_001364929.1(ECPAS):c.1472G>A (p.Arg491Gln)	ECPAS (R497Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087016	NC_000009.12:g.111484435C>G	ECPAS, LOC130002357	Single nucleotide variant	not specified	GUncertain significance
Select item 3087015	NC_000009.12:g.111484437C>T	ECPAS, LOC130002357	Single nucleotide variant	not specified	GUncertain significance
Select item 3087014	NC_000009.12:g.111484442C>G	ECPAS, LOC130002357	Single nucleotide variant	not specified	GUncertain significance
Select item 3087013	NM_001364929.1(ECPAS):c.1357A>G (p.Ile453Val)	ECPAS (I453V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087012	NM_001364929.1(ECPAS):c.1291G>A (p.Asp431Asn)	ECPAS (D431N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087011	NM_001364929.1(ECPAS):c.1132A>G (p.Ile378Val)	ECPAS (I384V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087009	NC_000009.12:g.111484473C>T	ECPAS, LOC130002357	Single nucleotide variant	not specified	GUncertain significance
Select item 3087008	NM_001364929.1(ECPAS):c.1031C>T (p.Thr344Met)	ECPAS (T344M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087007	NC_000009.12:g.111484479G>C	ECPAS, LOC130002357	Single nucleotide variant	not specified	GUncertain significance
Select item 3087006	NM_001364929.1(ECPAS):c.937G>T (p.Val313Phe)	ECPAS (V319F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087005	NM_001364929.1(ECPAS):c.911T>C (p.Ile304Thr)	ECPAS (I310T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087004	NM_001364929.1(ECPAS):c.853A>C (p.Ile285Leu)	ECPAS (I285L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087003	NM_001364929.1(ECPAS):c.791G>A (p.Ser264Asn)	ECPAS (S264N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087002	NM_001364929.1(ECPAS):c.721A>G (p.Ile241Val)	ECPAS (I241V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2