C0751674[trait identifier] AND "Tuberous sclerosis database (TSC1)"[su - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 49016	NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 49008	NM_000368.5(TSC1):c.2865C>T (p.Thr955=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 49006	NM_000368.5(TSC1):c.2829C>T (p.Ala943=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 64842	NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)	TSC1 (Q926* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +2 more	GPathogenic
Select item 64828	NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)	TSC1 (A917P +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GUncertain significance
Select item 48985	NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)	TSC1 (A883T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 48971	NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)	TSC1 (N716fs +3 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 64710	NM_000368.5(TSC1):c.2505C>T (p.Leu835=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 48952	NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)	TSC1 (I807T +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 64813	NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)	TSC1 (Q797* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 48941	NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)	TSC1 (Q781* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +3 more	GPathogenic
Select item 64708	NM_000368.5(TSC1):c.2329del (p.Ser777fs)	TSC1 (S656fs +3 more)	Deletion (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 48885	NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	TSC1 (R692* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +5 more	GPathogenic
Select item 48797	NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)	TSC1 (R509Q +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 48796	NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	TSC1 (R509* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +4 more	GPathogenic
Select item 48791	NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	TSC1 (R500* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 48764	NM_000368.5(TSC1):c.1333+13C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 48765	NM_000368.5(TSC1):c.1333+5A>G	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 41687	NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)	TSC1 (T360N +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 48729	NM_000368.5(TSC1):c.1029+1G>A	TSC1	Single nucleotide variant (5 prime UTR variant +1 more)	Tuberous sclerosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 41686	NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)	TSC1 (S334L +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 41700	NM_000368.5(TSC1):c.965T>C (p.Met322Thr)	TSC1 (M322T +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 49118	NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)	TSC1 (Y297* +2 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1	GPathogenic
Select item 49083	NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)	TSC1 (R228* +2 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 49071	NM_000368.5(TSC1):c.615T>C (p.Ser205=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 5102	NM_000368.5(TSC1):c.495C>A (p.Cys165Ter)	TSC1 (C165* +2 more)	Single nucleotide variant (nonsense)	Lymphangiomyomatosis	GPathogenic
Select item 49046	NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)	TSC1 (W164* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 27