"Color Diagnostics, LLC DBA Color Health"[submitter] AND "TSC1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41698	NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)	TSC1 (P1143L +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 49024	NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 49019	NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)	TSC1	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +4 more	GBenign/Likely benign
Select item 41697	NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)	TSC1	Microsatellite (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 41696	NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)	TSC1 (G1035S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 2445273	NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)	TSC1 (L642I +15 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184417	NM_000368.5(TSC1):c.2922C>T (p.Leu974=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GConflicting classifications of pathogenicity
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 49006	NM_000368.5(TSC1):c.2829C>T (p.Ala943=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1796488	NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)	TSC1 (Q806* +15 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +2 more	GPathogenic
Select item 534452	NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)	TSC1 (R908Q +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 41695	NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)	TSC1 (T899S +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +4 more	GBenign/Likely benign
Select item 48984	NM_000368.5(TSC1):c.2646C>T (p.Ala882=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 495837	NM_000368.5(TSC1):c.2626-5_2626-4dup	TSC1	Duplication (intron variant)	Tuberous sclerosis 1 +4 more	GBenign
Select item 411211	NM_000368.5(TSC1):c.2626-3C>T	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 195562	NM_000368.5(TSC1):c.2626-4dup	TSC1	Duplication (intron variant)	Tuberous sclerosis 1 +5 more	GBenign/Likely benign
Select item 48983	NM_000368.5(TSC1):c.2626-4del	TSC1	Deletion (intron variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 466088	NM_000368.5(TSC1):c.2604C>T (p.Asn868=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +2 more	GBenign/Likely benign
Select item 365515	NM_000368.5(TSC1):c.2556G>C (p.Leu852=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 664903	NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)	TSC1 (R690Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 48931	NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)	TSC1 (N762S +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 365516	NM_000368.5(TSC1):c.2209-3T>C	TSC1	Single nucleotide variant (intron variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 5103	NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	TSC1 (H732Y +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 41694	NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)	TSC1 (R692Q +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 137731	NM_000368.5(TSC1):c.1977G>A (p.Ala659=)	TSC1	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +4 more	GBenign/Likely benign
Select item 41692	NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	TSC1 (Q654E +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 207611	NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)	TSC1 (P603L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 5099	NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)	TSC1 (K587R +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +4 more	GBenign
Select item 48821	NM_000368.5(TSC1):c.1726T>C (p.Leu576=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 515533	NM_000368.5(TSC1):c.1596C>T (p.Asn532=)	TSC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 41690	NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)	TSC1 (S487C +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +5 more	GConflicting classifications of pathogenicity
Select item 1415522	NM_000368.5(TSC1):c.1412del (p.Asp471fs)	TSC1 (D350fs +3 more)	Deletion (frameshift variant)	Tuberous sclerosis syndrome +1 more	GPathogenic
Select item 48768	NM_000368.5(TSC1):c.1335A>G (p.Glu445=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 48754	NM_000368.5(TSC1):c.1264-12T>C	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 48752	NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)	TSC1 (T417I +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 416646	NM_000368.5(TSC1):c.1200C>G (p.Leu400=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 969778	NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)	TSC1 (T214I +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GUncertain significance
Select item 41700	NM_000368.5(TSC1):c.965T>C (p.Met322Thr)	TSC1 (M322T +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +5 more	GBenign
Select item 49071	NM_000368.5(TSC1):c.615T>C (p.Ser205=)	TSC1	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +6 more	GBenign/Likely benign
Select item 466139	NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)	TSC1 (L116F)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 48972	NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)	TSC1 (A84T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 137729	NM_000368.5(TSC1):c.201A>G (p.Pro67=)	TSC1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41688	NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)	TSC1 (L41I)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 1 +4 more	GConflicting classifications of pathogenicity
Select item 64782	NM_000368.5(TSC1):c.-7C>T	TSC1	Single nucleotide variant (5 prime UTR variant)	Isolated focal cortical dysplasia type II +4 more	GBenign/Likely benign

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Items: 44