6220[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1262436	NM_004974.4(KCNA2):c.*9440C>G	KCNA2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1712289	NM_004974.4(KCNA2):c.*9361G>A	KCNA2 (A348T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1237563	NM_004974.4(KCNA2):c.*9298G>A	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1257086	NM_004974.4(KCNA2):c.*9294C>T	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1270237	NM_004974.4(KCNA2):c.*1488AT[10]	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1192746	NM_004974.4(KCNA2):c.*1495T>C	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1269688	NM_004974.4(KCNA2):c.*1493T>C	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289753	NM_004974.4(KCNA2):c.*1491T>C	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1201388	NM_004974.4(KCNA2):c.1490_1491insCA	KCNA2	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1204366	NM_004974.4(KCNA2):c.1487_1490del	KCNA2	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1196513	NM_004974.4(KCNA2):c.1485_1490del	KCNA2	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1251062	NM_004974.4(KCNA2):c.*1455CA[18]	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1241628	NM_004974.4(KCNA2):c.*1489T>C	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1190501	NM_004974.4(KCNA2):c.*1455CA[19]	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1274548	NM_004974.4(KCNA2):c.*1455CA[15]	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251556	NM_004974.4(KCNA2):c.*1455CA[16]	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1237517	NM_004974.4(KCNA2):c.*1485C>T	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1247502	NM_004974.4(KCNA2):c.1454_1455insTACACACA	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1246346	NM_004974.4(KCNA2):c.*1455C>T	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1213655	NM_004974.4(KCNA2):c.1454_1455insTACACACACA	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1212933	NM_004974.4(KCNA2):c.*1451TA[3]	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1211180	NM_004974.4(KCNA2):c.1454_1455insTACACACACACA	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200267	NM_004974.4(KCNA2):c.1454_1455insTACACA	KCNA2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1284086	NM_004974.4(KCNA2):c.*1379A>C	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 3287488	NM_004974.4(KCNA2):c.*1254G>T	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 392819	NM_004974.4(KCNA2):c.*1245G>A	KCNA2 (D343N)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1245424	NM_004974.4(KCNA2):c.*1244T>C	KCNA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2638988	NM_004974.4(KCNA2):c.*1228G>C	KCNA2 (R337T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2465379	NM_004974.4(KCNA2):c.*1215G>A	KCNA2 (V333I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1298434	NM_004974.4(KCNA2):c.*1209A>G	KCNA2 (M331V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 586061	NM_004974.4(KCNA2):c.*1204C>T	KCNA2 (A329V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2664659	NM_004974.4(KCNA2):c.*1150del	KCNA2 (G311fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2249748	NM_004974.4(KCNA2):c.*1150G>A	KCNA2 (G311E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1177692	NM_004974.4(KCNA2):c.*1045del	KCNA2	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1249815	NM_004974.4(KCNA2):c.*950G>A	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1211612	NM_004974.4(KCNA2):c.*846G>A	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1250209	NM_004974.4(KCNA2):c.*36C>G	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3339611	NM_004974.4(KCNA2):c.*15C>T	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1207194	NM_004974.4(KCNA2):c.*10A>G	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3003140	NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 977395	NM_004974.4(KCNA2):c.1496T>C (p.Val499Ala)	KCNA2 (V499A)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 2507265	NM_004974.4(KCNA2):c.1495G>A (p.Val499Ile)	KCNA2 (V499I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 999752	NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys)	KCNA2 (Y489C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2709350	NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 1100729	NM_004974.4(KCNA2):c.1450T>C (p.Leu484=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2138988	NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)	KCNA2 (C482Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1312361	NM_004974.4(KCNA2):c.1445G>C (p.Cys482Ser)	KCNA2 (C482S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500397	NM_004974.4(KCNA2):c.1435_1439delinsCTGTTTT (p.Thr479fs)	KCNA2 (T479fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1305909	NM_004974.4(KCNA2):c.1438G>A (p.Ala480Thr)	KCNA2 (A480T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 804950	NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg)	KCNA2 (K478R)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2716387	NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 3369187	NM_004974.4(KCNA2):c.1424A>C (p.Glu475Ala)	KCNA2 (E475A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1540336	NM_004974.4(KCNA2):c.1422G>A (p.Glu474=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2812593	NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)	KCNA2 (R473G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1155418	NM_004974.4(KCNA2):c.1416T>C (p.Phe472=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2963353	NM_004974.4(KCNA2):c.1395A>G (p.Val465=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 447616	NM_004974.4(KCNA2):c.1392T>G (p.Gly464=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32 +3 more	GBenign/Likely benign
Select item 1308309	NM_004974.4(KCNA2):c.1390G>A (p.Gly464Ser)	KCNA2 (G464S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177411	NM_004974.4(KCNA2):c.1389G>A (p.Glu463=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 1132372	NM_004974.4(KCNA2):c.1385A>G (p.Gln462Arg)	KCNA2 (Q462R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 1771333	NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32 +1 more	GLikely benign
Select item 833855	NM_004974.4(KCNA2):c.1380G>T (p.Glu460Asp)	KCNA2 (E460D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 3371235	NM_004974.4(KCNA2):c.1375A>T (p.Met459Leu)	KCNA2 (M459L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341871	NM_004974.4(KCNA2):c.1375A>G (p.Met459Val)	KCNA2 (M459V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1016870	NM_004974.4(KCNA2):c.1372T>C (p.Tyr458His)	KCNA2 (Y458H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1492679	NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala)	KCNA2 (T452A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1021350	NM_004974.4(KCNA2):c.1354A>T (p.Thr452Ser)	KCNA2 (T452S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1764092	NM_004974.4(KCNA2):c.1266_1344del (p.Gly423fs)	KCNA2 (G423fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2037618	NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)	KCNA2 (S447I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2182686	NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2571877	NM_004974.4(KCNA2):c.1324C>T (p.Pro442Ser)	KCNA2 (P442S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940247	NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2311696	NM_004974.4(KCNA2):c.1312A>G (p.Ile438Val)	KCNA2 (I438V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2819318	NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)	KCNA2 (K437N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1306936	NM_004974.4(KCNA2):c.1304G>A (p.Cys435Tyr)	KCNA2 (C435Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32 +1 more	GUncertain significance
Select item 542664	NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser)	KCNA2 (C435S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 542667	NM_004974.4(KCNA2):c.1299A>T (p.Thr433=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32 +2 more	GBenign/Likely benign
Select item 1769237	NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)	KCNA2 (T433A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1676905	NM_004974.4(KCNA2):c.1291C>G (p.Gln431Glu)	KCNA2 (Q431E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2198784	NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 733422	NM_004974.4(KCNA2):c.1281C>T (p.Ala427=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2816567	NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)	KCNA2 (Q426*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 763005	NM_004974.4(KCNA2):c.1275A>G (p.Glu425=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 1386027	NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs)	KCNA2 (G423fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 423204	NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs)	KCNA2 (E422fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2147820	NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)	KCNA2 (R419L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 476047	NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln)	KCNA2 (R419Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 1254658	NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp)	KCNA2 (R419W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2724433	NM_004974.4(KCNA2):c.1254C>T (p.His418=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 623698	NM_004974.4(KCNA2):c.1250A>G (p.Tyr417Cys)	KCNA2 (Y417C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1061921	NM_004974.4(KCNA2):c.1248C>A (p.Phe416Leu)	KCNA2 (F416L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32 +1 more	GUncertain significance
Select item 1002622	NM_004974.4(KCNA2):c.1242C>A (p.Asn414Lys)	KCNA2 (N414K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 662361	NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys)	KCNA2 (N414K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2748423	NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)	KCNA2 (V410M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance

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