30227[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 2789114	NM_032802.4(SPPL2A):c.1558C>T (p.Gln520Ter)	SPPL2A (Q520*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1165397	NM_032802.4(SPPL2A):c.1554C>G (p.Val518=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1513993	NM_032802.4(SPPL2A):c.1546C>G (p.Gln516Glu)	SPPL2A (Q516E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009835	NM_032802.4(SPPL2A):c.1517A>G (p.Asn506Ser)	SPPL2A (N506S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733851	NM_032802.4(SPPL2A):c.1510G>A (p.Ala504Thr)	SPPL2A (A504T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046581	NM_032802.4(SPPL2A):c.1489-6G>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918039	NM_032802.4(SPPL2A):c.1489-19G>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956949	NM_032802.4(SPPL2A):c.1489-20C>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547535	NM_032802.4(SPPL2A):c.1488+19G>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957070	NM_032802.4(SPPL2A):c.1488+13A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086156	NM_032802.4(SPPL2A):c.1488+1G>T	SPPL2A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2907048	NM_032802.4(SPPL2A):c.1480A>G (p.Ser494Gly)	SPPL2A (S494G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1636043	NM_032802.4(SPPL2A):c.1473A>G (p.Lys491=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1057300	NM_032802.4(SPPL2A):c.1459A>C (p.Lys487Gln)	SPPL2A (K487Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2229306	NM_032802.4(SPPL2A):c.1448G>A (p.Arg483His)	SPPL2A (R483H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2966325	NM_032802.4(SPPL2A):c.1447C>T (p.Arg483Cys)	SPPL2A (R483C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663920	NM_032802.4(SPPL2A):c.1431A>G (p.Ser477=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166064	NM_032802.4(SPPL2A):c.1424C>G (p.Thr475Ser)	SPPL2A (T475S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2694199	NM_032802.4(SPPL2A):c.1415C>G (p.Thr472Arg)	SPPL2A (T472R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928176	NM_032802.4(SPPL2A):c.1410T>A (p.Pro470=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847961	NM_032802.4(SPPL2A):c.1409C>T (p.Pro470Leu)	SPPL2A (P470L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001974	NM_032802.4(SPPL2A):c.1402T>G (p.Leu468Val)	SPPL2A (L468V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857421	NM_032802.4(SPPL2A):c.1393C>G (p.Leu465Val)	SPPL2A (L465V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1083131	NM_032802.4(SPPL2A):c.1380G>A (p.Lys460=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054063	NM_032802.4(SPPL2A):c.1372A>G (p.Met458Val)	SPPL2A (M458V)	Single nucleotide variant (missense variant)	SPPL2A-related disorder	GUncertain significance
Select item 2785909	NM_032802.4(SPPL2A):c.1370T>C (p.Leu457Pro)	SPPL2A (L457P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080726	NM_032802.4(SPPL2A):c.1369C>A (p.Leu457Met)	SPPL2A (L457M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019048	NM_032802.4(SPPL2A):c.1363C>T (p.Leu455=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768090	NM_032802.4(SPPL2A):c.1352C>G (p.Thr451Arg)	SPPL2A (T451R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2366297	NM_032802.4(SPPL2A):c.1352C>T (p.Thr451Ile)	SPPL2A (T451I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1391270	NM_032802.4(SPPL2A):c.1347A>G (p.Ile449Met)	SPPL2A (I449M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557395	NM_032802.4(SPPL2A):c.1344G>A (p.Met448Ile)	SPPL2A (M448I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2958444	NM_032802.4(SPPL2A):c.1332_1333dup (p.Ala445fs)	SPPL2A (A445fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1299468	NM_032802.4(SPPL2A):c.1328-1G>A	SPPL2A	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 86	GPathogenic
Select item 1371245	NM_032802.4(SPPL2A):c.1328-7_1328-5del	SPPL2A	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2717959	NM_032802.4(SPPL2A):c.1328-10C>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1533154	NM_032802.4(SPPL2A):c.1328-13A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976455	NM_032802.4(SPPL2A):c.1328-19C>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023666	NM_032802.4(SPPL2A):c.1327+20T>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005359	NM_032802.4(SPPL2A):c.1327+18T>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600951	NM_032802.4(SPPL2A):c.1327+12T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1941014	NM_032802.4(SPPL2A):c.1327+11del	SPPL2A	Deletion (intron variant)	not provided	GLikely benign
Select item 2191873	NM_032802.4(SPPL2A):c.1317G>A (p.Ser439=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917438	NM_032802.4(SPPL2A):c.1317G>T (p.Ser439=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2768846	NM_032802.4(SPPL2A):c.1307A>G (p.Tyr436Cys)	SPPL2A (Y436C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173896	NM_032802.4(SPPL2A):c.1301A>G (p.Tyr434Cys)	SPPL2A (Y434C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973341	NM_032802.4(SPPL2A):c.1290T>C (p.Thr430=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1152577	NM_032802.4(SPPL2A):c.1281T>A (p.Asp427Glu)	SPPL2A (D427E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2867046	NM_032802.4(SPPL2A):c.1276T>C (p.Phe426Leu)	SPPL2A (F426L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360582	NM_032802.4(SPPL2A):c.1274G>T (p.Arg425Ile)	SPPL2A (R425I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912082	NM_032802.4(SPPL2A):c.1271G>C (p.Arg424Thr)	SPPL2A (R424T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004340	NM_032802.4(SPPL2A):c.1269T>C (p.Cys423=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158549	NM_032802.4(SPPL2A):c.1263A>C (p.Ala421=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966366	NM_032802.4(SPPL2A):c.1262C>T (p.Ala421Val)	SPPL2A (A421V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857895	NM_032802.4(SPPL2A):c.1252C>T (p.Leu418=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595057	NM_032802.4(SPPL2A):c.1250-19GTTTT[2]	SPPL2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2989464	NM_032802.4(SPPL2A):c.1250-13T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664331	NM_032802.4(SPPL2A):c.1249+16A>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999628	NM_032802.4(SPPL2A):c.1249+3A>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1972038	NM_032802.4(SPPL2A):c.1219A>G (p.Ile407Val)	SPPL2A (I407V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175662	NM_032802.4(SPPL2A):c.1212T>C (p.Pro404=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715470	NM_032802.4(SPPL2A):c.1211C>T (p.Pro404Leu)	SPPL2A (P404L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843444	NM_032802.4(SPPL2A):c.1204del (p.Leu402fs)	SPPL2A (L402fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1722185	NM_032802.4(SPPL2A):c.1204C>T (p.Leu402Phe)	SPPL2A (L402F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831315	NM_032802.4(SPPL2A):c.1203C>T (p.Cys401=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931803	NM_032802.4(SPPL2A):c.1188A>G (p.Ser396=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828018	NM_032802.4(SPPL2A):c.1187C>T (p.Ser396Leu)	SPPL2A (S396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2471100	NM_032802.4(SPPL2A):c.1181A>G (p.Tyr394Cys)	SPPL2A (Y394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1164754	NM_032802.4(SPPL2A):c.1179C>A (p.Ile393=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2828868	NM_032802.4(SPPL2A):c.1167A>G (p.Val389=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905127	NM_032802.4(SPPL2A):c.1147-4A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1593316	NM_032802.4(SPPL2A):c.1147-5A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611632	NM_032802.4(SPPL2A):c.1147-7T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165628	NM_032802.4(SPPL2A):c.1147-37GTTTT[7]	SPPL2A	Microsatellite (intron variant)	not provided	GBenign
Select item 2161642	NM_032802.4(SPPL2A):c.1147-37GTTTT[3]	SPPL2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1165662	NM_032802.4(SPPL2A):c.1147-37GTTTT[4]	SPPL2A	Microsatellite (intron variant)	not provided	GBenign
Select item 1165398	NM_032802.4(SPPL2A):c.1147-37GTTTT[5]	SPPL2A	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1662124	NM_032802.4(SPPL2A):c.1147-9T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832595	NM_032802.4(SPPL2A):c.1147-14_1147-13del	SPPL2A	Deletion (intron variant)	not provided	GLikely benign
Select item 2688405	NM_032802.4(SPPL2A):c.1147-57C>T	SPPL2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2024055	NM_032802.4(SPPL2A):c.1146+12A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762555	NM_032802.4(SPPL2A):c.1146+7A>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006804	NM_032802.4(SPPL2A):c.1126C>T (p.Pro376Ser)	SPPL2A (P376S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085560	NM_032802.4(SPPL2A):c.1117G>A (p.Ala373Thr)	SPPL2A (A373T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644445	NM_032802.4(SPPL2A):c.1116C>T (p.Leu372=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513558	NM_032802.4(SPPL2A):c.1108G>A (p.Val370Ile)	SPPL2A (V370I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875028	NM_032802.4(SPPL2A):c.1100G>A (p.Ser367Asn)	SPPL2A (S367N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357579	NM_032802.4(SPPL2A):c.1096G>A (p.Glu366Lys)	SPPL2A (E366K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168995	NM_032802.4(SPPL2A):c.1090-4T>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2906037	NM_032802.4(SPPL2A):c.1090-7A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1955166	NM_032802.4(SPPL2A):c.1090-20_1090-18del	SPPL2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1582502	NM_032802.4(SPPL2A):c.1089+8_1089+10del	SPPL2A	Deletion (intron variant)	not provided	GLikely benign
Select item 2722292	NM_032802.4(SPPL2A):c.1089+7C>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837384	NM_032802.4(SPPL2A):c.1081A>G (p.Ile361Val)	SPPL2A (I361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366540	NM_032802.4(SPPL2A):c.1072A>T (p.Thr358Ser)	SPPL2A (T358S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935438	NM_032802.4(SPPL2A):c.1071A>G (p.Ile357Met)	SPPL2A (I357M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828977	NM_032802.4(SPPL2A):c.1068C>T (p.Phe356=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409093	NM_032802.4(SPPL2A):c.1062del (p.Phe354fs)	SPPL2A (F354fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1972997	NM_032802.4(SPPL2A):c.1058T>C (p.Phe353Ser)	SPPL2A (F353S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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