ClinVar for MedGen (Select 22518) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076061	NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)	TSC1 (E538* +15 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis syndrome	GLikely pathogenic
Select item 3076056	NM_000368.5(TSC1):c.1264-1G>C	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076053	NM_000368.5(TSC1):c.2626-2del	TSC1	Deletion (splice acceptor variant)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076046	NM_000548.5(TSC2):c.4067dup (p.Ile1357fs)	TSC2 (I1090fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076039	NM_000548.5(TSC2):c.4613dup (p.Ser1539fs)	TSC2 (S1024fs +34 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis syndrome	GPathogenic
Select item 3076021	NM_000368.5(TSC1):c.2626-2A>T	TSC1	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis syndrome	GPathogenic
Select item 3075764	NM_000368.5(TSC1):c.1997+2T>C	TSC1	Single nucleotide variant (splice donor variant)	Tuberous sclerosis syndrome	GLikely pathogenic
Select item 3075532	NM_000368.5(TSC1):c.170C>T (p.Ala57Val)	TSC1 (A57V)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075531	NM_000368.5(TSC1):c.185C>T (p.Thr62Ile)	TSC1 (T62I)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075530	NM_000368.5(TSC1):c.1046C>T (p.Pro349Leu)	TSC1 (P228L +3 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075529	NM_000368.5(TSC1):c.1163T>G (p.Leu388Arg)	TSC1 (L266R +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075467	NM_000548.5(TSC2):c.4850-9C>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075458	NM_000548.5(TSC2):c.1290A>C (p.Arg430Ser)	TSC2 (R230S +8 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075422	NM_000368.5(TSC1):c.906T>C (p.Asn302=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3075334	NM_000548.5(TSC2):c.1270C>A (p.Leu424Met)	TSC2 (L224M +8 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075320	NM_000368.5(TSC1):c.1048T>C (p.Ser350Pro)	TSC1 (S229P +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075259	NM_000368.5(TSC1):c.1225A>G (p.Ile409Val)	TSC1 (I287V +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075101	NM_000548.5(TSC2):c.4493+3_4493+6dup	TSC2	Duplication (intron variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075077	NM_000548.5(TSC2):c.364C>A (p.Leu122Ile)	TSC2 (L103I +5 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075067	NM_000548.5(TSC2):c.5359G>C (p.Gly1787Arg)	TSC2 (G1186R +35 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075053	NM_000548.5(TSC2):c.4245G>C (p.Lys1415Asn)	TSC2 (K1148N +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3075052	NM_000548.5(TSC2):c.1192A>G (p.Asn398Asp)	TSC2 (N198D +8 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074987	NM_000548.5(TSC2):c.2373C>T (p.Cys791=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074976	NM_000548.5(TSC2):c.5069-9T>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074972	NM_000548.5(TSC2):c.1348G>A (p.Glu450Lys)	TSC2 (E250K +9 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074954	NM_000548.5(TSC2):c.517T>C (p.Ser173Pro)	TSC2 (S124P +6 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074916	NM_000548.5(TSC2):c.3295G>C (p.Gly1099Arg)	TSC2 (G1006R +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074914	NM_000368.5(TSC1):c.600C>A (p.Val200=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074906	NM_000368.5(TSC1):c.415A>G (p.Met139Val)	TSC1 (M139V +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074862	NM_000368.5(TSC1):c.2233A>G (p.Lys745Glu)	TSC1 (K394E +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074781	NM_000368.5(TSC1):c.1022CAC[1] (p.Pro342del)	TSC1 (P221del +3 more)	Microsatellite (inframe_deletion +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074684	NM_000548.5(TSC2):c.2334C>T (p.Asn778=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074672	NM_000368.5(TSC1):c.3G>A (p.Met1Ile)	TSC1 (M1I)	Single nucleotide variant (missense variant +4 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074648	NM_000548.5(TSC2):c.3713C>T (p.Ala1238Val)	TSC2 (A1037V +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074520	NM_000548.5(TSC2):c.3624G>T (p.Trp1208Cys)	TSC2 (W1007C +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074493	NM_000368.5(TSC1):c.138G>A (p.Val46=)	TSC1	Single nucleotide variant (synonymous variant +3 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074489	NM_000368.5(TSC1):c.571C>G (p.Leu191Val)	TSC1 (L140V +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074470	NM_000548.5(TSC2):c.2202C>T (p.Cys734=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074469	NM_000548.5(TSC2):c.2254G>T (p.Gly752Cys)	TSC2 (G218C +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074464	NM_000548.5(TSC2):c.2677A>G (p.Ile893Val)	TSC2 (I359V +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074365	NM_000368.5(TSC1):c.135G>T (p.Leu45Phe)	TSC1 (L45F)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074298	NM_000548.5(TSC2):c.4641C>G (p.Val1547=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074251	NM_000548.5(TSC2):c.5068+29_5068+30insTAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAG	TSC2	Insertion (splice donor variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074167	NM_000548.5(TSC2):c.1002G>T (p.Val334=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074139	NM_000368.5(TSC1):c.747A>G (p.Arg249=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3074086	NM_000368.5(TSC1):c.3018G>T (p.Gly1006=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3074031	NM_000548.5(TSC2):c.428T>A (p.Phe143Tyr)	TSC2 (F106Y +5 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073971	NM_000548.5(TSC2):c.1181T>C (p.Leu394Pro)	TSC2 (L194P +8 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073959	NM_000548.5(TSC2):c.3223A>C (p.Thr1075Pro)	TSC2 (T1012P +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073940	NM_000368.5(TSC1):c.3158A>C (p.His1053Pro)	TSC1 (H1001P +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073932	NM_000368.5(TSC1):c.2626-3_2626-2insTG	TSC1	Insertion (intron variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073920	NM_000548.5(TSC2):c.4130A>G (p.Gln1377Arg)	TSC2 (Q1110R +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073790	NM_000548.5(TSC2):c.1841C>G (p.Ala614Gly)	TSC2 (A166G +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073781	NM_000548.5(TSC2):c.482-10T>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073716	NM_000548.5(TSC2):c.3172A>G (p.Lys1058Glu)	TSC2 (K1008E +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073675	NM_000368.5(TSC1):c.107-15C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GLikely benign
Select item 3073661	NM_000548.5(TSC2):c.930T>C (p.Tyr310=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3073628	NM_000368.5(TSC1):c.-10G>A	TSC1	Single nucleotide variant (5 prime UTR variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3073555	NM_000368.5(TSC1):c.3193A>G (p.Thr1065Ala)	TSC1 (T1013A +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073489	NM_000548.5(TSC2):c.3883+1G>C	TSC2 (G1251A)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073488	NM_000548.5(TSC2):c.268C>G (p.Gln90Glu)	TSC2 (Q101E +2 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073473	NM_000548.5(TSC2):c.779T>C (p.Met260Thr)	TSC2 (M106T +8 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073468	NM_000548.5(TSC2):c.4180C>G (p.Leu1394Val)	TSC2 (L1127V +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073360	NM_000548.5(TSC2):c.2098-14T>C	TSC2	Single nucleotide variant (non-coding transcript variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3073336	NM_000548.5(TSC2):c.5420T>C (p.Val1807Ala)	TSC2 (V1206A +35 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073308	NM_000368.5(TSC1):c.83T>A (p.Val28Asp)	TSC1 (V28D)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073141	NM_000368.5(TSC1):c.1264-12T>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073059	NM_000548.5(TSC2):c.5068+22_5068+23insTGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGC	TSC2	Insertion (splice donor variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3073008	NM_000548.5(TSC2):c.2824G>A (p.Glu942Lys)	TSC2 (E408K +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072977	NM_000548.5(TSC2):c.2052G>A (p.Val684=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3072884	NM_000548.5(TSC2):c.4755G>C (p.Lys1585Asn)	TSC2 (K1070N +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072844	NM_000548.5(TSC2):c.4578C>A (p.Ser1526=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3072761	NM_000368.5(TSC1):c.1072C>A (p.Pro358Thr)	TSC1 (P237T +4 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072755	NM_000368.5(TSC1):c.-8G>A	TSC1	Single nucleotide variant (5 prime UTR variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072731	NM_000368.5(TSC1):c.2987G>C (p.Cys996Ser)	TSC1 (C645S +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072573	NM_000548.5(TSC2):c.2379G>T (p.Glu793Asp)	TSC2 (E259D +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072544	NM_000548.5(TSC2):c.2772T>G (p.Phe924Leu)	TSC2 (F390L +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072518	NM_000368.5(TSC1):c.1030-14del	TSC1	Deletion (intron variant)	Tuberous sclerosis syndrome	GLikely benign
Select item 3072508	NM_000548.5(TSC2):c.4820C>T (p.Thr1607Ile)	TSC2 (T1006I +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072477	NM_000548.5(TSC2):c.3787C>A (p.Pro1263Thr)	TSC2 (P1019T +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072431	NM_000548.5(TSC2):c.3876C>G (p.Ser1292=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3072412	NM_000548.5(TSC2):c.600-11G>A	TSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3072401	NM_000548.5(TSC2):c.3760T>C (p.Ser1254Pro)	TSC2 (S1010P +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072332	NM_000548.5(TSC2):c.*6G>C	TSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072330	NM_000368.5(TSC1):c.1998-9T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GLikely benign
Select item 3072288	NM_000548.5(TSC2):c.2134A>G (p.Arg712Gly)	TSC2 (R178G +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072109	NM_000368.5(TSC1):c.2458_2460del (p.Lys820del)	TSC1 (K469del +10 more)	Deletion (inframe_deletion +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072101	NM_000548.5(TSC2):c.3962A>C (p.Glu1321Ala)	TSC2 (E1054A +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072085	NM_000548.5(TSC2):c.4211A>G (p.Lys1404Arg)	TSC2 (K1137R +34 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3072016	NM_000368.5(TSC1):c.1874A>G (p.Glu625Gly)	TSC1 (E274G +8 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3071975	NM_000548.5(TSC2):c.2703C>A (p.Arg901=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3071941	NM_000548.5(TSC2):c.3620G>A (p.Ser1207Asn)	TSC2 (S1006N +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3071843	NM_000548.5(TSC2):c.764C>G (p.Pro255Arg)	TSC2 (P101R +8 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3071821	NM_000548.5(TSC2):c.1557C>T (p.Cys519=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3071766	NM_000368.5(TSC1):c.1416T>C (p.Ser472=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome	GLikely benign
Select item 3071690	NM_000368.5(TSC1):c.2597T>G (p.Leu866Arg)	TSC1 (L515R +15 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3071641	NM_000548.5(TSC2):c.1839+6G>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3071604	NM_000368.5(TSC1):c.2166G>T (p.Lys722Asn)	TSC1 (K670N +10 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3071590	NM_000368.5(TSC1):c.1998-8C>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 3071583	NM_000548.5(TSC2):c.165C>G (p.Asn55Lys)	TSC2 (N55K +2 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome	GUncertain significance

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