LOC130002651[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1195695	NM_003165.3(STXBP1):c.-160_-148dup	LOC130002651, STXBP1	Duplication (intron variant)	not provided	GLikely benign
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 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 1264625	NM_001032221.6(STXBP1):c.-22G>C	LOC130002651, STXBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
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 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 2019337	NM_001032221.6(STXBP1):c.2T>G (p.Met1Arg)	LOC130002651, STXBP1 (M1R)	Single nucleotide variant (5 prime UTR variant +3 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
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 448535	NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 139353	NM_001032221.6(STXBP1):c.6C>A (p.Ala2=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely 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 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 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 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 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 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 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 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 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 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 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 3342690	NM_001032221.6(STXBP1):c.26T>G (p.Val9Gly)	LOC130002651, STXBP1 (V9G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 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 373290	NM_001374309.2(STXBP1):c.-6+388GA[2]	LOC130002651, STXBP1	Microsatellite (intron variant)	not provided	GPathogenic
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 207445	NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp)	LOC130002651, STXBP1 (E12D)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 3254733	NM_001032221.6(STXBP1):c.37+1_37+2delinsA	LOC130002651, STXBP1	Indel (intron variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic
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 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 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 984754	NM_001032221.6(STXBP1):c.37+3A>C	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	Infantile epilepsy syndrome	GLikely pathogenic
Select item 207446	NM_001032221.6(STXBP1):c.37+3A>T	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 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 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 384495	NM_001032221.6(STXBP1):c.37+19C>T	LOC130002651, STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign

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Items: 55