Related gene-specific medical variations for Gene (Select 6812) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2804531	NM_001032221.6(STXBP1):c.37+18C>A	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2711969	NM_001032221.6(STXBP1):c.8C>T (p.Pro3Leu)	LOC130002651, STXBP1 (P3L)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2698759	NM_001032221.6(STXBP1):c.37+8G>T	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	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 2659510	NM_001374314.1(STXBP1):c.*64A>G	PTRH1, STXBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2659509	NM_001374314.1(STXBP1):c.*40ATG[9]	PTRH1, STXBP1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2575986	NM_001032221.6(STXBP1):c.980T>C (p.Leu327Pro)	STXBP1 (L291P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502719	NM_001032221.6(STXBP1):c.17T>C (p.Leu6Pro)	LOC130002651, STXBP1 (L6P)	Single nucleotide variant (intron variant +2 more)	not provided	GLikely pathogenic
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 2190028	NM_001032221.6(STXBP1):c.37+12C>A	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2048847	NM_001032221.6(STXBP1):c.429+19T>G	LOC114827831, STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2019337	NM_001032221.6(STXBP1):c.2T>G (p.Met1Arg)	LOC130002651, STXBP1 (M1R)	Single nucleotide variant (missense variant +3 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1998923	NM_001032221.6(STXBP1):c.24T>C (p.Ala8=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 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 1719450	NM_001032221.6(STXBP1):c.13G>T (p.Gly5Cys)	LOC130002651, STXBP1 (G5C)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 1650031	NM_001032221.6(STXBP1):c.15C>G (p.Gly5=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1622710	NM_001032221.6(STXBP1):c.429+20G>A	LOC114827831, STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1457462	NM_001032221.6(STXBP1):c.37+1G>A	LOC130002651, STXBP1	Single nucleotide variant (intron variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1389624	NM_001032221.6(STXBP1):c.19A>G (p.Lys7Glu)	LOC130002651, STXBP1 (K7E)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 1341652	NM_001032221.6(STXBP1):c.-50G>T	LOC130002651, STXBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1326021	NM_001032221.6(STXBP1):c.1709C>T (p.Thr570Ile)	MIR3911, STXBP1 (T556I +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely pathogenic
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 1275769	NM_001032221.6(STXBP1):c.915del (p.Ser306fs)	STXBP1 (S270fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1264625	NM_001032221.6(STXBP1):c.-22G>C	LOC130002651, STXBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1260563	NM_001032221.6(STXBP1):c.1707C>T (p.Ser569=)	MIR3911, STXBP1	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GBenign
Select item 1241389	NM_001032221.6(STXBP1):c.1703-77T>C	MIR3911, STXBP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1217188	NM_001032221.6(STXBP1):c.429+318G>T	LOC114827831, STXBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202628	NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)	LOC130002651, STXBP1 (V9fs)	Indel (intron variant +2 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1195695	NM_003165.3(STXBP1):c.-160_-148dup	LOC130002651, STXBP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1193036	NM_001032221.6(STXBP1):c.-3G>T	LOC130002651, STXBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1184882	NM_001032221.6(STXBP1):c.722C>A (p.Ser241Tyr)	STXBP1 (S227Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1184881	NM_001032221.6(STXBP1):c.721T>A (p.Ser241Thr)	STXBP1 (S227T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1027655	NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)	STXBP1 (I404del +3 more)	Microsatellite (inframe_deletion)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 999296	NM_001032221.6(STXBP1):c.5C>T (p.Ala2Val)	LOC130002651, STXBP1 (A2V)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 989379	NM_001032221.6(STXBP1):c.23C>G (p.Ala8Gly)	LOC130002651, STXBP1 (A8G)	Single nucleotide variant (missense variant +2 more)	STXBP1-related neurodevelopmental disorder	GUncertain significance
Select item 987469	NM_001032221.6(STXBP1):c.1079del (p.Gly360fs)	STXBP1 (G324fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987121	NM_001032221.6(STXBP1):c.1176del (p.Ile393fs)	STXBP1 (I357fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986892	NM_001032221.6(STXBP1):c.1644del (p.Asn548fs)	STXBP1 (N512fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986822	NM_001032221.6(STXBP1):c.785del (p.Asp262fs)	STXBP1 (D248fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 984754	NM_001032221.6(STXBP1):c.37+3A>C	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	Infantile epilepsy syndrome	GLikely pathogenic
Select item 932635	NM_001032221.6(STXBP1):c.429+5G>A	STXBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 871269	NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu)	STXBP1 (G507E +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 870914	NM_001032221.6(STXBP1):c.1017del (p.Glu340fs)	STXBP1 (E337fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 870912	NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs)	STXBP1 (G222fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 870909	NM_001032221.6(STXBP1):c.29T>A (p.Val10Asp)	LOC130002651, STXBP1 (V10D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 870412	NM_001032221.6(STXBP1):c.37+2dup	LOC130002651, STXBP1	Duplication (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic/Likely pathogenic
Select item 827636	NM_001032221.6(STXBP1):c.246+2_325+14del	STXBP1	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 815296	GRCh37/hg19 9q34.11(chr9:130363849-130455691)x1	STXBP1	Copy number loss	not provided	GPathogenic
Select item 810489	GRCh37/hg19 9q34.11(chr9:130438083-130446756)x1	STXBP1	Copy number loss	not provided	GLikely pathogenic
Select item 810417	NM_001032221.6(STXBP1):c.876C>A (p.Arg292=)	STXBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 800112	NM_001032221.6(STXBP1):c.33A>G (p.Gly11=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 674061	NM_001032221.6(STXBP1):c.429+329G>A	LOC114827831, STXBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 590289	NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter)	STXBP1 (Y519* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 572405	NM_001032221.6(STXBP1):c.22_32dup (p.Glu12fs)	LOC130002651, STXBP1 (E12fs)	Duplication (frameshift variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 571512	NM_001032221.6(STXBP1):c.29_31del (p.Val10del)	LOC130002651, STXBP1 (V10del)	Deletion (inframe_deletion +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 512358	NM_001032221.6(STXBP1):c.-34G>T	LOC130002651, STXBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 461292	NM_001032221.6(STXBP1):c.25G>A (p.Val9Ile)	LOC130002651, STXBP1 (V9I)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 448535	NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 444778	NM_001032221.6(STXBP1):c.664-1G>A	STXBP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 431152	NM_001032221.6(STXBP1):c.1706C>T (p.Ser569Phe)	MIR3911, STXBP1 (S569F +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Non-syndromic intellectual disability	GLikely pathogenic
Select item 384495	NM_001032221.6(STXBP1):c.37+19C>T	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 373290	NM_001374309.2(STXBP1):c.-6+388GA[2]	LOC130002651, STXBP1	Microsatellite (intron variant)	not provided	GPathogenic
Select item 258981	NM_001032221.6(STXBP1):c.30C>T (p.Val10=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 254076	NM_003165.3(STXBP1):c.88-?_963+?dup	STXBP1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 253494	GRCh37/hg19 9q34.11(chr9:130430429-130430704)x1	STXBP1	Copy number loss	See cases	GPathogenic
Select item 253486	GRCh37/hg19 9q34.11(chr9:130420443-130420935)x1	STXBP1	Copy number loss	See cases	GPathogenic
Select item 253463	GRCh37/hg19 9q34.11(chr9:130415943-130420935)x1	STXBP1	Copy number loss	See cases	GPathogenic
Select item 253429	GRCh37/hg19 9q34.11(chr9:130373225-130453427)x1	STXBP1	Copy number loss	See cases	GPathogenic
Select item 207446	NM_001032221.6(STXBP1):c.37+3A>T	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 207445	NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp)	LOC130002651, STXBP1 (E12D)	Single nucleotide variant (5 prime UTR variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 161607	NM_001032221.6(STXBP1):c.587A>G (p.Lys196Arg)	STXBP1 (K196R +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 139353	NM_001032221.6(STXBP1):c.6C>A (p.Ala2=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign

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Items: 92