NES[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 2251278	NM_006617.2(NES):c.4780G>T (p.Ala1594Ser)	NES (A1594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194038	NM_006617.2(NES):c.4750G>A (p.Gly1584Arg)	NES (G1584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739936	NM_006617.2(NES):c.4722C>T (p.Asp1574=)	NES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256025	NM_006617.2(NES):c.4678T>C (p.Ser1560Pro)	NES (S1560P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322948	NM_006617.2(NES):c.4609G>A (p.Gly1537Ser)	NES (G1537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639461	NM_006617.2(NES):c.4608T>C (p.Asn1536=)	NES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307940	NM_006617.2(NES):c.4582C>T (p.Pro1528Ser)	NES (P1528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247814	NM_006617.2(NES):c.4536A>C (p.Lys1512Asn)	NES (K1512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314141	NM_006617.2(NES):c.4460C>T (p.Thr1487Met)	NES (T1487M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225968	NM_006617.2(NES):c.4436G>A (p.Gly1479Asp)	NES (G1479D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720899	NM_006617.2(NES):c.4435G>A (p.Gly1479Ser)	NES (G1479S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782391	NM_006617.2(NES):c.4396A>G (p.Ser1466Gly)	NES (S1466G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268705	NM_006617.2(NES):c.4363G>C (p.Gly1455Arg)	NES (G1455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194018	NM_006617.2(NES):c.4306C>T (p.Arg1436Trp)	NES (R1436W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371055	NM_006617.2(NES):c.4298G>C (p.Gly1433Ala)	NES (G1433A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320434	NM_006617.2(NES):c.4262A>G (p.Glu1421Gly)	NES (E1421G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782392	NM_006617.2(NES):c.4219G>A (p.Gly1407Arg)	NES (G1407R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305505	NM_006617.2(NES):c.4213C>G (p.Arg1405Gly)	NES (R1405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313997	NM_006617.2(NES):c.4141G>C (p.Gly1381Arg)	NES (G1381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194006	NM_006617.2(NES):c.4107T>G (p.Phe1369Leu)	NES (F1369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476978	NM_006617.2(NES):c.4082G>A (p.Arg1361His)	NES (R1361H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194001	NM_006617.2(NES):c.4054G>C (p.Gly1352Arg)	NES (G1352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193997	NM_006617.2(NES):c.3932C>G (p.Pro1311Arg)	NES (P1311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247202	NM_006617.2(NES):c.3926C>T (p.Thr1309Ile)	NES (T1309I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238056	NM_006617.2(NES):c.3824C>T (p.Pro1275Leu)	NES (P1275L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2468374	NM_006617.2(NES):c.3820G>A (p.Gly1274Ser)	NES (G1274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560655	NM_006617.2(NES):c.3751G>A (p.Gly1251Arg)	NES (G1251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263404	NM_006617.2(NES):c.3733G>T (p.Ala1245Ser)	NES (A1245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193983	NM_006617.2(NES):c.3725G>C (p.Ser1242Thr)	NES (S1242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349237	NM_006617.2(NES):c.3686T>C (p.Leu1229Pro)	NES (L1229P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336020	NM_006617.2(NES):c.3583A>G (p.Thr1195Ala)	NES (T1195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469887	NM_006617.2(NES):c.3511G>A (p.Gly1171Ser)	NES (G1171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748659	NM_006617.2(NES):c.3498G>A (p.Glu1166=)	NES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312999	NM_006617.2(NES):c.3482G>T (p.Ser1161Ile)	NES (S1161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791518	NM_006617.2(NES):c.3475G>A (p.Gly1159Arg)	NES (G1159R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2474084	NM_006617.2(NES):c.3418C>A (p.Pro1140Thr)	NES (P1140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207895	NM_006617.2(NES):c.3398G>C (p.Arg1133Thr)	NES (R1133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468144	NM_006617.2(NES):c.3391G>A (p.Ala1131Thr)	NES (A1131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193956	NM_006617.2(NES):c.3370C>G (p.Leu1124Val)	NES (L1124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193951	NM_006617.2(NES):c.3335G>T (p.Gly1112Val)	NES (G1112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193946	NM_006617.2(NES):c.3323T>G (p.Leu1108Arg)	NES (L1108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517541	NM_006617.2(NES):c.3320G>C (p.Gly1107Ala)	NES (G1107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712087	NM_006617.2(NES):c.3313G>T (p.Val1105Leu)	NES (V1105L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3299303	NM_006617.2(NES):c.3248T>C (p.Met1083Thr)	NES (M1083T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193940	NM_006617.2(NES):c.3220G>C (p.Gly1074Arg)	NES (G1074R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 729087	NM_006617.2(NES):c.3186G>T (p.Ala1062=)	NES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299309	NM_006617.2(NES):c.3148G>A (p.Ala1050Thr)	NES (A1050T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299313	NM_006617.2(NES):c.3142G>A (p.Val1048Met)	NES (V1048M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299320	NM_006617.2(NES):c.3037C>A (p.His1013Asn)	NES (H1013N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468358	NM_006617.2(NES):c.3031G>A (p.Glu1011Lys)	NES (E1011K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356860	NM_006617.2(NES):c.3014A>T (p.Glu1005Val)	NES (E1005V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747301	NM_006617.2(NES):c.2973G>A (p.Lys991=)	NES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299308	NM_006617.2(NES):c.2958T>G (p.Asp986Glu)	NES (D986E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299315	NM_006617.2(NES):c.2938C>G (p.Leu980Val)	NES (L980V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193923	NM_006617.2(NES):c.2923G>C (p.Glu975Gln)	NES (E975Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215650	NM_006617.2(NES):c.2861C>T (p.Thr954Met)	NES (T954M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299317	NM_006617.2(NES):c.2828C>T (p.Pro943Leu)	NES (P943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193917	NM_006617.2(NES):c.2585C>T (p.Pro862Leu)	NES (P862L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455434	NM_006617.2(NES):c.2503G>A (p.Glu835Lys)	NES (E835K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791612	NM_006617.2(NES):c.2489A>G (p.Lys830Arg)	NES (K830R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299319	NM_006617.2(NES):c.2417T>C (p.Phe806Ser)	NES (F806S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371590	NM_006617.2(NES):c.2387C>A (p.Ala796Asp)	NES (A796D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758616	NM_006617.2(NES):c.2376C>T (p.Asp792=)	NES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729711	NM_006617.2(NES):c.2371C>A (p.Leu791Ile)	NES (L791I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2527180	NM_006617.2(NES):c.2363T>C (p.Leu788Pro)	NES (L788P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299312	NM_006617.2(NES):c.2348T>G (p.Val783Gly)	NES (V783G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514961	NM_006617.2(NES):c.2296C>T (p.Arg766Trp)	NES (R766W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733942	NM_006617.2(NES):c.2234G>C (p.Arg745Thr)	NES (R745T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3193888	NM_006617.2(NES):c.2225A>C (p.Lys742Thr)	NES (K742T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313656	NM_006617.2(NES):c.2220T>A (p.Asn740Lys)	NES (N740K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293564	NM_006617.2(NES):c.2131T>C (p.Phe711Leu)	NES (F711L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568721	NM_006617.2(NES):c.2048T>C (p.Val683Ala)	NES (V683A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193873	NM_006617.2(NES):c.2002A>C (p.Thr668Pro)	NES (T668P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733679	NM_006617.2(NES):c.1980G>A (p.Leu660=)	NES	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2461828	NM_006617.2(NES):c.1906A>G (p.Met636Val)	NES (M636V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523877	NM_006617.2(NES):c.1886A>C (p.Gln629Pro)	NES (Q629P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238585	NM_006617.2(NES):c.1869G>T (p.Gln623His)	NES (Q623H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487413	NM_006617.2(NES):c.1862A>T (p.Asp621Val)	NES (D621V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480638	NM_006617.2(NES):c.1862A>G (p.Asp621Gly)	NES (D621G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299318	NM_006617.2(NES):c.1828G>A (p.Ala610Thr)	NES (A610T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 218687	NM_006617.2(NES):c.1825G>C (p.Glu609Gln)	NES (E609Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3299311	NM_006617.2(NES):c.1771A>G (p.Lys591Glu)	NES (K591E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299314	NM_006617.2(NES):c.1768G>A (p.Glu590Lys)	NES (E590K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247293	NM_006617.2(NES):c.1691G>A (p.Ser564Asn)	NES (S564N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193858	NM_006617.2(NES):c.1646T>G (p.Leu549Arg)	NES (L549R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193854	NM_006617.2(NES):c.1615G>A (p.Val539Ile)	NES (V539I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299307	NM_006617.2(NES):c.1528G>A (p.Ala510Thr)	NES (A510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299302	NM_006617.2(NES):c.1502T>A (p.Ile501Asn)	NES (I501N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614278	NM_006617.2(NES):c.1495G>C (p.Gly499Arg)	NES (G499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454482	NM_006617.2(NES):c.1479C>G (p.Cys493Trp)	NES (C493W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378916	NM_006617.2(NES):c.1412G>T (p.Ser471Ile)	NES (S471I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615888	NM_006617.2(NES):c.1405C>G (p.Pro469Ala)	NES (P469A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193841	NM_006617.2(NES):c.1388A>G (p.His463Arg)	NES (H463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377365	NM_006617.2(NES):c.1342G>A (p.Gly448Arg)	NES (G448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193832	NM_006617.2(NES):c.1304C>T (p.Ala435Val)	NES (A435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604075	NM_006617.2(NES):c.1285C>T (p.Arg429Trp)	NES (R429W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491757	NM_006617.2(NES):c.1283T>C (p.Leu428Pro)	NES (L428P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2