ClinVar for Gene (Select 6857) - ClinVar

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358995	NM_005639.3(SYT1):c.244A>T (p.Lys82Ter)	SYT1 (K82*)	Single nucleotide variant (nonsense)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 3347820	NM_005639.3(SYT1):c.414AGA[1] (p.Glu141del)	SYT1 (E138del +1 more)	Microsatellite (inframe_deletion)	SYT1-related disorder	GUncertain significance
Select item 3324016	NM_005639.3(SYT1):c.665G>A (p.Gly222Asp)	SYT1 (G222D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252282	NM_005639.3(SYT1):c.1022A>G (p.Asn341Ser)	SYT1 (N338S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3172939	NM_005639.3(SYT1):c.314A>G (p.Lys105Arg)	SYT1 (K105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3057703	NM_005639.3(SYT1):c.594C>G (p.Val198=)	SYT1	Single nucleotide variant (synonymous variant)	SYT1-related disorder	GLikely benign
Select item 3040037	NM_005639.3(SYT1):c.849C>T (p.Tyr283=)	SYT1	Single nucleotide variant (synonymous variant)	SYT1-related disorder	GBenign
Select item 3039337	NM_005639.3(SYT1):c.628C>A (p.Gln210Lys)	SYT1 (Q207K +1 more)	Single nucleotide variant (missense variant)	SYT1-related disorder	GUncertain significance
Select item 3033179	NM_005639.3(SYT1):c.789G>A (p.Leu263=)	SYT1	Single nucleotide variant (synonymous variant)	SYT1-related disorder	GLikely benign
Select item 3025250	NM_005639.3(SYT1):c.1155C>T (p.Gly385=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685440	GRCh37/hg19 12q21.2(chr12:79566981-79664838)x1	SYT1	Copy number loss	not provided	GUncertain significance
Select item 2685439	GRCh37/hg19 12q21.2(chr12:79362396-79475446)x1	SYT1	Copy number loss	not provided	GUncertain significance
Select item 2663213	NM_005639.3(SYT1):c.532T>A (p.Ser178Thr)	SYT1 (S175T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643187	NM_005639.3(SYT1):c.1258G>A (p.Val420Ile)	SYT1 (V417I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2643186	NM_005639.3(SYT1):c.480G>A (p.Leu160=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643185	NM_005639.3(SYT1):c.84del (p.Glu28fs)	SYT1 (E28fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2618313	NM_005639.3(SYT1):c.995A>G (p.Lys332Arg)	SYT1 (K329R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609370	NM_005639.3(SYT1):c.266A>G (p.Asn89Ser)	SYT1 (N89S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605981	NM_005639.3(SYT1):c.422A>T (p.Glu141Val)	SYT1 (E138V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580451	NM_005639.3(SYT1):c.605C>A (p.Thr202Asn)	SYT1 (T199N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578688	NM_005639.3(SYT1):c.-17-9C>G	SYT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2576861	NM_005639.3(SYT1):c.822G>T (p.Leu274Phe)	SYT1 (L271F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575023	NM_005639.3(SYT1):c.290G>C (p.Gly97Ala)	SYT1 (G97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535053	NM_005639.3(SYT1):c.340A>T (p.Met114Leu)	SYT1 (M114L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504970	NM_005639.3(SYT1):c.1115A>G (p.Asp372Gly)	SYT1 (D369G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498061	NM_005639.3(SYT1):c.536A>G (p.Asp179Gly)	SYT1 (D176G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446528	NM_005639.3(SYT1):c.822G>C (p.Leu274Phe)	SYT1 (L271F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443347	NM_005639.3(SYT1):c.1049T>A (p.Phe350Tyr)	SYT1 (F347Y +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 2436916	NM_005639.3(SYT1):c.520A>G (p.Met174Val)	SYT1 (M171V +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 2366135	NM_005639.3(SYT1):c.1259T>C (p.Val420Ala)	SYT1 (V417A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2321670	NM_005639.3(SYT1):c.5T>C (p.Val2Ala)	SYT1 (V2A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319701	NM_005639.3(SYT1):c.193G>A (p.Ala65Thr)	SYT1 (A65T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317417	NM_005639.3(SYT1):c.361G>A (p.Asp121Asn)	SYT1 (D118N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264524	NM_005639.3(SYT1):c.143T>C (p.Met48Thr)	SYT1 (M48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227827	NM_005639.3(SYT1):c.10G>A (p.Glu4Lys)	SYT1 (E4K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226685	NM_005639.3(SYT1):c.655G>C (p.Glu219Gln)	SYT1 (E216Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878431	NM_005639.3(SYT1):c.551T>C (p.Val184Ala)	SYT1 (V181A +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1809838	NM_005639.3(SYT1):c.522G>T (p.Met174Ile)	SYT1 (M171I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800680	NM_005639.3(SYT1):c.993T>G (p.Ile331Met)	SYT1 (I328M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712611	NM_005639.3(SYT1):c.405A>C (p.Glu135Asp)	SYT1 (E132D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709375	NM_005639.3(SYT1):c.920G>A (p.Gly307Asp)	SYT1 (G304D +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1705448	NM_005639.3(SYT1):c.1101_1103dup (p.Lys367_Ile368insMet)	SYT1	Duplication (inframe_insertion)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1687146	NM_005639.3(SYT1):c.1076T>C (p.Val359Ala)	SYT1 (V356A +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 1686243	NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)	SYT1 (S306F +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GPathogenic/Likely pathogenic
Select item 1340614	GRCh37/hg19 12q21.2(chr12:79452245-79744682)x1	SYT1	Copy number loss	not provided	GUncertain significance
Select item 1334917	NM_005639.3(SYT1):c.474+3C>A	SYT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1334916	NM_005639.3(SYT1):c.75C>T (p.Asn25=)	SYT1	Single nucleotide variant (synonymous variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GBenign
Select item 1333789	NM_005639.3(SYT1):c.1043T>C (p.Val348Ala)	SYT1 (V345A +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 1333603	NM_005639.3(SYT1):c.1114G>A (p.Asp372Asn)	SYT1 (D369N +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 1315189	NM_005639.3(SYT1):c.403GAA[1] (p.Glu136del)	SYT1 (E133del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1312768	NM_005639.3(SYT1):c.404A>G (p.Glu135Gly)	SYT1 (E132G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309093	NM_005639.3(SYT1):c.1093T>C (p.Tyr365His)	SYT1 (Y362H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297049	NM_005639.3(SYT1):c.928G>A (p.Asp310Asn)	SYT1 (D307N +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1274428	NM_005639.3(SYT1):c.1074G>T (p.Val358=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1164047	NM_005639.3(SYT1):c.1198C>T (p.Arg400Ter)	SYT1 (R397* +1 more)	Single nucleotide variant (nonsense)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GPathogenic
Select item 1064864	NM_005639.3(SYT1):c.476T>G (p.Leu159Arg)	SYT1 (L156R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1012827	NM_005639.3(SYT1):c.845G>A (p.Arg282His)	SYT1 (R279H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989298	NM_005639.3(SYT1):c.224G>T (p.Cys75Phe)	SYT1 (C75F)	Single nucleotide variant (missense variant)	SYT1-associated neurodevelopmental disorder	GUncertain significance
Select item 977145	NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu)	SYT1 (D363E +1 more)	Single nucleotide variant (missense variant)	Syndromic intellectual disability	GPathogenic
Select item 828098	NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup)	SYT1	Duplication (inframe_insertion)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 815540	GRCh37/hg19 12q21.2(chr12:79373265-79512503)x1	SYT1	Copy number loss	not provided	GUncertain significance
Select item 815539	GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1	OTOGL, ACSS3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 790668	NM_005639.3(SYT1):c.378T>C (p.Thr126=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778644	NM_005639.3(SYT1):c.1158G>A (p.Ala386=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 763283	NM_005639.3(SYT1):c.1257C>T (p.Ala419=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722025	NM_005639.3(SYT1):c.1113C>T (p.Asn371=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 687127	GRCh37/hg19 12q21.2(chr12:79732756-80116407)x1	PAWR, SYT1	Copy number loss	not provided	GUncertain significance
Select item 686557	GRCh37/hg19 12q21.2(chr12:79367903-79786505)x1	SYT1	Copy number loss	not provided	GUncertain significance
Select item 633551	NM_005639.3(SYT1):c.1127_1128dup (p.Val377fs)	SYT1 (V377fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 590281	NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys)	SYT1 (N371K +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 590280	NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)	SYT1 (D366E +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 590279	NM_005639.3(SYT1):c.911A>G (p.Asp304Gly)	SYT1 (D304G +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 590278	NM_005639.3(SYT1):c.908T>A (p.Met303Lys)	SYT1 (M303K +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 521149	NM_005639.3(SYT1):c.1090G>A (p.Asp364Asn)	SYT1 (D364N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 431484	NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)	SYT1 (I365T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 87