"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 184529	NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +5 more	GBenign/Likely benign
Select item 466133	NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)	TSC1 (T1119I +3 more)	Single nucleotide variant (missense variant)	not provided +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)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41697	NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)	TSC1	Microsatellite (inframe_insertion)	not provided +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)	Isolated focal cortical dysplasia type II +4 more	GConflicting classifications of pathogenicity
Select item 49008	NM_000368.5(TSC1):c.2865C>T (p.Thr955=)	TSC1	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +6 more	GBenign/Likely benign
Select item 48984	NM_000368.5(TSC1):c.2646C>T (p.Ala882=)	TSC1	Single nucleotide variant (synonymous 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 5103	NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	TSC1 (H732Y +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41692	NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	TSC1 (Q654E +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 5097	NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)	TSC1 (K509fs +3 more)	Microsatellite (frameshift variant)	Tuberous sclerosis 1 +1 more	GPathogenic
Select item 207610	NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)	TSC1 (T592M +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 237705	NM_000368.5(TSC1):c.1773G>A (p.Pro591=)	TSC1	Single nucleotide variant (synonymous variant)	Isolated focal cortical dysplasia type II +4 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)	not provided +4 more	GBenign
Select item 365517	NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)	TSC1 (T582I +3 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 48821	NM_000368.5(TSC1):c.1726T>C (p.Leu576=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 137730	NM_000368.5(TSC1):c.1701G>A (p.Ala567=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 377283	NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)	TSC1 (S530T +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 48797	NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)	TSC1 (R509Q +3 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +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 41690	NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)	TSC1 (S487C +3 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +5 more	GConflicting classifications of pathogenicity
Select item 48782	NM_000368.5(TSC1):c.1438+6G>A	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 48770	NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)	TSC1 (P448S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 547823	NM_000368.5(TSC1):c.1029+3A>G	TSC1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41686	NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)	TSC1 (S334L +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 237732	NM_000368.5(TSC1):c.915G>C (p.Gly305=)	TSC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 237730	NM_000368.5(TSC1):c.876C>T (p.Val292=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 64699	NM_000368.5(TSC1):c.853T>G (p.Phe285Val)	TSC1 (F285V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 411286	NM_000368.5(TSC1):c.625A>G (p.Met209Val)	TSC1 (M209V +2 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 1 +2 more	GBenign/Likely benign
Select item 49072	NM_000368.5(TSC1):c.618T>C (p.His206=)	TSC1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 49071	NM_000368.5(TSC1):c.615T>C (p.Ser205=)	TSC1	Single nucleotide variant (synonymous variant)	Lymphangiomyomatosis +6 more	GBenign/Likely benign
Select item 416660	NM_000368.5(TSC1):c.513C>T (p.His171=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 1 +3 more	GBenign/Likely benign
Select item 64814	NM_000368.5(TSC1):c.346T>G (p.Leu116Val)	TSC1 (L116V)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 237711	NM_000368.5(TSC1):c.273G>A (p.Ser91=)	TSC1	Single nucleotide variant (synonymous variant +2 more)	not specified +6 more	GBenign/Likely benign
Select item 48972	NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)	TSC1 (A84T)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 1809592	NM_000368.5(TSC1):c.73_85dup (p.Phe29fs)	TSC1 (F29fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1808330	GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3	BARHL1, CEL +8 more	Copy number gain	not provided	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic

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Items: 39