"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SYT1"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578688	NM_005639.3(SYT1):c.-17-9C>G	SYT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2643185	NM_005639.3(SYT1):c.84del (p.Glu28fs)	SYT1 (E28fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2643186	NM_005639.3(SYT1):c.480G>A (p.Leu160=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012827	NM_005639.3(SYT1):c.845G>A (p.Arg282His)	SYT1 (R279H +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
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 722025	NM_005639.3(SYT1):c.1113C>T (p.Asn371=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	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 778644	NM_005639.3(SYT1):c.1158G>A (p.Ala386=)	SYT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2643187	NM_005639.3(SYT1):c.1258G>A (p.Val420Ile)	SYT1 (V417I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign