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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 64943	NM_000548.5(TSC2):c.45_51del (p.Lys16fs)	TSC2 (K27fs +1 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 49151	NM_000548.5(TSC2):c.133_136del (p.Leu45fs)	TSC2 (L45fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 467970	NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)	TSC2 (R93Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 65038	NM_000548.5(TSC2):c.337-1G>A	TSC2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 929510	NM_000548.5(TSC2):c.364del (p.Leu122fs)	TSC2 (L122fs +3 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 1700636	NM_000548.5(TSC2):c.600-124G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GPathogenic
Select item 1696836	NC_000016.10:g.2056989_2074645del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 929514	NM_000548.5(TSC2):c.782_783insT (p.Asn262fs)	TSC2 (N213fs +4 more)	Insertion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 1700567	NM_000548.5(TSC2):c.843G>T (p.Glu281Asp)	TSC2 (E232D +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 50009	NM_000548.5(TSC2):c.856A>G (p.Met286Val)	TSC2 (M286V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 929515	NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)	TSC2 (S122* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 49396	NM_000548.5(TSC2):c.976-15G>A	TSC2	Single nucleotide variant (intron variant)	TSC2-related condition +4 more	GPathogenic
Select item 65242	NM_000548.5(TSC2):c.979_980dup (p.Met327fs)	TSC2 (M127fs +4 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 49969	NM_000548.5(TSC2):c.993C>T (p.Asn331=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 207711	NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)	TSC2 (E366K +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 12400	NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)	TSC2 (E366* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 647290	NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)	TSC2 (Q381* +4 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 930216	NM_000548.5(TSC2):c.1119+129G>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GPathogenic
Select item 929504	NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)	TSC2 (E179fs +4 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 974587	NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)	TSC2 (E193* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 929505	NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer)	TSC2	Microsatellite (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 929506	NM_000548.5(TSC2):c.1276del (p.Asn425_Leu426insTer)	TSC2	Deletion (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 1696844	NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter)	TSC2 (Q243* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 49153	NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	TSC2 (R458* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 973205	NM_000548.5(TSC2):c.1476G>C (p.Gln492His)	TSC2 (Q292H +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 929507	NM_000548.5(TSC2):c.1487del (p.Ile496fs)	TSC2 (I296fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 49637	NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)	TSC2 (E498* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 12396	NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	TSC2 (R505* +4 more)	Single nucleotide variant (nonsense)	Lymphangiomyomatosis +4 more	GPathogenic
Select item 49163	NM_000548.5(TSC2):c.1593C>T (p.Ile531=)	TSC2	Single nucleotide variant (synonymous variant)	Lymphangiomyomatosis +6 more	GBenign/Likely benign
Select item 1700634	NM_000548.5(TSC2):c.1599+4A>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GPathogenic
Select item 65279	NM_000548.5(TSC2):c.1628dup (p.Glu544fs)	TSC2 (E344fs +4 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 49618	NM_000548.5(TSC2):c.1717-1G>A	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic/Likely pathogenic
Select item 929508	NM_000548.5(TSC2):c.1739_1740insT (p.Ser581fs)	TSC2 (S544fs +4 more)	Insertion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 49173	NM_000548.5(TSC2):c.1778A>G (p.His593Arg)	TSC2 (H593R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 49643	NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)	TSC2 (R611W +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +4 more	GPathogenic
Select item 12397	NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	TSC2 (R611Q +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +4 more	GPathogenic/Likely pathogenic
Select item 64936	NM_000548.5(TSC2):c.1840-1G>A	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 1696787	NM_000548.5(TSC2):c.1845del (p.Phe615fs)	TSC2 (F415fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 65268	NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del)	TSC2 (L621del +4 more)	Microsatellite (inframe_deletion)	Tuberous sclerosis 2	GLikely pathogenic
Select item 64889	NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	TSC2 (R622W +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +3 more	GPathogenic/Likely pathogenic
Select item 406129	NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)	TSC2 (R628C +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 448722	NM_000548.5(TSC2):c.1946+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 974585	NM_000548.5(TSC2):c.1981_2020del (p.Gly661fs)	TSC2 (G461fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 978587	NM_000548.5(TSC2):c.2021_2356-115delinsTAAGCACTTAGTCTCCT	TSC2	Indel (splice acceptor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 974584	NM_000548.5(TSC2):c.2098-2A>T	TSC2	Single nucleotide variant (non-coding transcript variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 50119	NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)	TSC2 (L733P +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1696846	NM_000548.5(TSC2):c.2220+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 50131	NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)	TSC2 (R751* +4 more)	Single nucleotide variant (nonsense)	Isolated focal cortical dysplasia type II +4 more	GPathogenic
Select item 1700568	NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu)	TSC2 (P554L +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 49679	NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)	TSC2 (Y776* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1700569	NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)	TSC2 (L580P +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GConflicting classifications of pathogenicity
Select item 49204	NM_000548.5(TSC2):c.2356-1G>A	TSC2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 49587	NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)	TSC2 (L808S +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 974586	NM_000548.5(TSC2):c.2475_2503del (p.Leu826fs)	TSC2 (L626fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 1696835	NM_000548.5(TSC2):c.2546-313_2967-376del	TSC2	Deletion (splice acceptor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 1696788	NM_000548.5(TSC2):c.2562_2566del (p.His855fs)	TSC2 (H655fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 50078	NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)	TSC2 (A862V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 978586	NM_000548.5(TSC2):c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT	TSC2	Indel (intron variant)	Tuberous sclerosis 2	GPathogenic
Select item 12403	NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	TSC2 (R905Q +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 438794	NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)	TSC2 (L722fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic/Likely pathogenic
Select item 49241	NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)	TSC2 (R1032P +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GPathogenic/Likely pathogenic
Select item 49735	NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)	TSC2 (Y1033* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 65159	NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs)	TSC2 (T1034fs +6 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 929509	NM_000548.5(TSC2):c.3294dup (p.Gly1099fs)	TSC2 (G1056fs +6 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 49257	NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)	TSC2 (R1138* +6 more)	Single nucleotide variant (nonsense)	Lymphangiomyomatosis +5 more	GPathogenic
Select item 49770	NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	TSC2 (R1200W +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 49264	NM_000548.5(TSC2):c.3610+1G>A	TSC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 64935	NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs)	TSC2 (S1164fs +6 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 50013	NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)	TSC2 (S1189fs +6 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 49550	NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)	TSC2 (Y1250* +6 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis syndrome +1 more	GPathogenic
Select item 49568	NM_000548.5(TSC2):c.3791del (p.Pro1264fs)	TSC2 (P1221fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 65005	NM_000548.5(TSC2):c.3884-1G>C	TSC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 803154	NM_000548.5(TSC2):c.4005+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 974588	NM_000548.5(TSC2):c.4006-2A>T	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 65053	NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter)	TSC2 (E1344* +9 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 1696845	NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter)	TSC2 (K1101* +9 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 535992	NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)	TSC2 (I1357L +9 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 65358	NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)	TSC2 (S1379L +9 more)	Single nucleotide variant (missense variant)	TSC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 230390	NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 49497	NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)	TSC2 (Q1380* +9 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 64969	NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)	TSC2 (S1332* +9 more)	Duplication (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 49806	NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)	TSC2 (Q1392* +9 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 280596	NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter)	TSC2 (Q1395* +9 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +2 more	GPathogenic
Select item 929511	NM_000548.5(TSC2):c.4287dup (p.Trp1430fs)	TSC2 (W1186fs +9 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 49304	NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)	TSC2 (N1271fs +9 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1700635	NM_000548.5(TSC2):c.[4570-18_4570-6del;4570-5CA[3]]	TSC2	Deletion (intron variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 49305	NM_000548.5(TSC2):c.4572dup (p.Gln1525fs)	TSC2 (Q1281fs +9 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 49306	NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)	TSC2 (Q1525* +9 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 973206	NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)	TSC2 (H1299R +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GConflicting classifications of pathogenicity
Select item 49310	NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)	TSC2 (E1552del +9 more)	Deletion (inframe_deletion)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 929512	NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter)	TSC2 (E1314* +9 more)	Single nucleotide variant (nonsense)	TSC2-related condition	GPathogenic
Select item 974589	NM_000548.5(TSC2):c.4798_4804dup (p.Glu1602delinsValTrpTer)	TSC2	Duplication (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 65369	NM_000548.5(TSC2):c.4850-2A>G	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 49893	NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)	TSC2 (K1638del +9 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 318335	NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)	TSC2 (D1644N +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 49340	NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)	TSC2 (Q1665* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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