"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 49008	NM_000368.5(TSC1):c.2865C>T (p.Thr955=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +6 more	GBenign/Likely benign
Select item 495837	NM_000368.5(TSC1):c.2626-5_2626-4dup	TSC1	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 411211	NM_000368.5(TSC1):c.2626-3C>T	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 195562	NM_000368.5(TSC1):c.2626-4dup	TSC1	Duplication (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 48931	NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)	TSC1 (N762S +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +4 more	GConflicting classifications of pathogenicity
Select item 41691	NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)	TSC1 (Q550E +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 48765	NM_000368.5(TSC1):c.1333+5A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +4 more	GBenign/Likely benign

ClinVar