ClinVar for MedGen (Select 436917) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242009	NM_001032221.6(STXBP1):c.553G>A (p.Glu185Lys)	STXBP1 (E171K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 3236709	NM_001032221.6(STXBP1):c.614_615del (p.Ile205fs)	STXBP1 (I191fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 3235156	NM_001032221.6(STXBP1):c.1018G>T (p.Glu340Ter)	STXBP1 (E304* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 3068465	NM_001032221.6(STXBP1):c.830_831delinsC (p.Lys277fs)	STXBP1 (K263fs +2 more)	Indel (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 3067958	NM_001032221.6(STXBP1):c.1640T>C (p.Leu547Pro)	STXBP1 (L511P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 3066208	NM_001032221.6(STXBP1):c.1547+2T>G	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 3065647	NM_001032221.6(STXBP1):c.226C>G (p.Leu76Val)	STXBP1 (L62V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 3064963	NM_001032221.6(STXBP1):c.1045C>G (p.His349Asp)	STXBP1 (H313D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 3064108	NM_001032221.6(STXBP1):c.1088A>T (p.Asp363Val)	STXBP1 (D327V +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2921232	NM_001032221.6(STXBP1):c.87+19T>C	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 4	GLikely benign
Select item 2690168	NM_001032221.6(STXBP1):c.1171G>A (p.Val391Ile)	STXBP1 (V355I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2683924	NM_001032221.6(STXBP1):c.325+5G>A	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2671713	NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)	STXBP1 (Y518* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2664989	NM_001032221.6(STXBP1):c.748C>A (p.Gln250Lys)	STXBP1 (Q236K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2664477	NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)	STXBP1 (R428G +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2585616	NM_001032221.6(STXBP1):c.1337T>C (p.Leu446Pro)	STXBP1 (L410P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2585547	NM_001032221.6(STXBP1):c.429+2T>G	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2584351	NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)	STXBP1 (Y518S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2577037	NM_001032221.6(STXBP1):c.1634T>G (p.Val545Gly)	STXBP1 (V509G +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2576604	NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)	STXBP1 (I449T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2574147	NM_001032221.6(STXBP1):c.325+1G>A	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2573500	NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del	STXBP1	Deletion	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2573201	NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)	STXBP1 (M280fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2570697	NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)	STXBP1 (D137fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2505544	NM_001032221.6(STXBP1):c.1481_1487del (p.Leu494fs)	STXBP1 (L458fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2505091	NM_001032221.6(STXBP1):c.596C>T (p.Ala199Val)	STXBP1 (A185V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	Gnot provided
Select item 2499609	NM_001032221.6(STXBP1):c.1533_1543del (p.Thr512fs)	STXBP1 (T476fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2442359	NM_001032221.6(STXBP1):c.1495_1496dup (p.Pro500fs)	STXBP1 (P464fs +3 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2442253	NM_003165.6(STXBP1):c.1711C>A (p.His571Asn)	STXBP1 (H535N +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436517	NM_001032221.6(STXBP1):c.1658C>A (p.Ala553Asp)	STXBP1 (A517D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436516	NM_001032221.6(STXBP1):c.1008G>C (p.Gln336His)	STXBP1 (Q300H +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436515	NM_001032221.6(STXBP1):c.649C>T (p.Pro217Ser)	STXBP1 (P203S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436514	NM_001032221.6(STXBP1):c.530C>T (p.Ala177Val)	STXBP1 (A163V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436513	NM_001032221.6(STXBP1):c.10A>G (p.Ile4Val)	LOC130002651, STXBP1 (I4V)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2436512	NM_001032221.6(STXBP1):c.2T>A (p.Met1Lys)	LOC130002651, STXBP1 (M1K)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2434011	NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)	STXBP1 (L22* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 2431658	NM_001032221.6(STXBP1):c.56T>C (p.Ile19Thr)	STXBP1 (I19T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2430194	NM_001032221.6(STXBP1):c.103_119del (p.Gln35fs)	STXBP1 (Q21fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 2171680	NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)	STXBP1 (L244V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1806156	NM_001032221.6(STXBP1):c.1716C>G (p.Ile572Met)	MIR3911, STXBP1 (I558M +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Developmental and epileptic encephalopathy, 4	GLikely benign
Select item 1805469	NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)	STXBP1 (T115fs +2 more)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1805441	NM_001032221.6(STXBP1):c.1462-2A>C	STXBP1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1804158	NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)	STXBP1 (L217fs +2 more)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803081	NM_001032221.6(STXBP1):c.1030-2A>G	STXBP1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1803080	NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)	STXBP1 (Q236E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803079	NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)	STXBP1 (D193G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803078	NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)	STXBP1 (A517P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803077	NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)	STXBP1 (D220G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1801498	NM_001032221.6(STXBP1):c.1110+2T>G	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic/Likely pathogenic
Select item 1799561	NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)	STXBP1 (L410F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1755487	NM_001032221.6(STXBP1):c.679C>T (p.Arg227Cys)	STXBP1 (R227C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1709566	NM_001032221.6(STXBP1):c.1359+5G>C	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1708503	NM_001032221.6(STXBP1):c.579-1G>C	STXBP1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1699023	NM_001032221.6(STXBP1):c.795-1G>A	STXBP1	Single nucleotide variant (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 1691863	NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs)	STXBP1 (Q522fs +3 more)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1686237	NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter)	STXBP1 (Q334* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1686236	NM_001032221.6(STXBP1):c.795-2A>C	STXBP1	Single nucleotide variant (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1679735	NM_001032221.6(STXBP1):c.38-300C>T	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 1677247	NM_001032221.6(STXBP1):c.963+2T>C	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1512107	NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)	STXBP1 (C96R +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 4 +1 more	GLikely pathogenic
Select item 1342560	NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro)	STXBP1 (L312P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1341766	NM_001032221.6(STXBP1):c.576G>A (p.Arg192=)	STXBP1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 1341561	NM_001032221.6(STXBP1):c.898del (p.Ser300fs)	STXBP1 (S286fs +2 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1333329	NM_001032221.6(STXBP1):c.170T>C (p.Ile57Thr)	STXBP1 (I43T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 1320142	NM_001032221.6(STXBP1):c.37+1G>C	LOC130002651, STXBP1	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1299648	NM_001032221.6(STXBP1):c.993del (p.Lys332fs)	STXBP1 (K296fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1298374	NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs)	STXBP1 (H462fs +3 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1298373	NM_001032221.6(STXBP1):c.733C>A (p.His245Asn)	STXBP1 (H231N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1298372	NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg)	STXBP1 (M450R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1298371	NM_003165.6(STXBP1):c.664-1delG	STXBP1	Deletion (splice acceptor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1298370	NM_001032221.6(STXBP1):c.1227_1229del (p.Leu410del)	STXBP1 (L374del +3 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1298369	NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg)	STXBP1 (L27R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1297002	NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro)	STXBP1 (L273P +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1285471	NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del)	STXBP1 (C31del +1 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 1214390	NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met)	STXBP1 (T117M +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 1212923	NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)	STXBP1 (C516Y +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +2 more	GPathogenic/Likely pathogenic
Select item 1205074	NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)	STXBP1 (V326I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1202628	NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)	LOC130002651, STXBP1 (V9fs)	Indel (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1184507	NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)	STXBP1 (Q392* +3 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1177478	NM_001032221.6(STXBP1):c.1359+5G>A	STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1163029	NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)	STXBP1 (D35fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic/Likely pathogenic
Select item 1098290	NM_001032221.6(STXBP1):c.1110+3A>C	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1065623	NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val)	STXBP1 (D248V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1064621	NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg)	STXBP1 (G381R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 997678	NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter)	STXBP1 (K488* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 996681	NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	STXBP1 (P173L +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 984762	NM_001032221.6(STXBP1):c.663+1G>C	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 982594	NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)	STXBP1 (G508C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 982293	NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys)	STXBP1 (I396K +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 976280	NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser)	STXBP1 (N152S +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 976245	NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)	STXBP1 (L390R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +1 more	GLikely pathogenic
Select item 976064	NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs)	STXBP1 (K111fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 975912	NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val)	STXBP1 (A102V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 975907	NM_001032221.6(STXBP1):c.1360-7C>T	STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 974572	NM_001032221.6(STXBP1):c.624del (p.Lys208fs)	STXBP1 (K194fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 974571	NM_001032221.6(STXBP1):c.246+1G>C	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 973279	NM_001032221.6(STXBP1):c.663+1G>A	STXBP1	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 973268	NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs)	STXBP1 (R464fs +3 more)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 944674	NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)	STXBP1 (C516* +3 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic

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