"Mendelics"[submitter] AND "TSC2"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 579576	NM_000548.5(TSC2):c.139-1G>A	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 50116	NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	TSC2 (E92V +2 more)	Single nucleotide variant (missense variant +1 more)	Lymphangiomyomatosis +6 more	GBenign/Likely benign
Select item 65223	NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)	TSC2 (R98W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 803147	NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)	TSC2 (E145* +3 more)	Single nucleotide variant (nonsense +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 49846	NM_000548.5(TSC2):c.538C>G (p.Leu180Val)	TSC2 (L180V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1686276	NM_000548.5(TSC2):c.595del (p.Val199fs)	TSC2 (V150fs +3 more)	Deletion (frameshift variant +1 more)	Lymphangiomyomatosis	GPathogenic
Select item 64960	NM_000548.5(TSC2):c.975+1G>T	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 1686277	NM_000548.5(TSC2):c.1380_1386del (p.Val461fs)	TSC2 (V261fs +4 more)	Deletion (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 49660	NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)	TSC2 (A460T +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 49742	NM_000548.5(TSC2):c.1443+4C>T	TSC2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 12396	NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	TSC2 (R505* +4 more)	Single nucleotide variant (nonsense)	Lymphangiomyomatosis +4 more	GPathogenic
Select item 64851	NM_000548.5(TSC2):c.1656A>G (p.Ala552=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 486612	NM_000548.5(TSC2):c.1689C>T (p.Ala563=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 803148	NM_000548.5(TSC2):c.1717-2A>C	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 41730	NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)	TSC2 (A607T +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41731	NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)	TSC2 (D647N +4 more)	Single nucleotide variant (missense variant)	TSC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 803149	NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala)	TSC2 (G676A +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely benign
Select item 65381	NM_000548.5(TSC2):c.2046del (p.Ser683fs)	TSC2 (S634fs +4 more)	Deletion (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 803150	NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)	TSC2 (K584* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 41732	NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)	TSC2 (L826M +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 803151	NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter)	TSC2 (S834* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 803152	NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs)	TSC2 (L908fs +6 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 1686278	NM_000548.5(TSC2):c.3040dup (p.Ser1014fs)	TSC2 (S1014fs +6 more)	Duplication (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 803153	NM_000548.5(TSC2):c.3284+25C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GBenign
Select item 1686279	NM_000548.5(TSC2):c.3376del (p.Asp1126fs)	TSC2 (D1034fs +6 more)	Deletion (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 49258	NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)	TSC2 (A1141T +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41733	NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)	TSC2 (V1144M +6 more)	Single nucleotide variant (missense variant)	TSC2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 49535	NM_000548.5(TSC2):c.3669del (p.Asn1224fs)	TSC2 (N1180fs +6 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 803154	NM_000548.5(TSC2):c.4005+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 803155	NM_000548.5(TSC2):c.4005+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 64922	NM_000548.5(TSC2):c.4006-2A>G	TSC2	Single nucleotide variant (splice acceptor variant)	Lymphangiomyomatosis +1 more	GPathogenic/Likely pathogenic
Select item 64969	NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)	TSC2 (S1332* +9 more)	Duplication (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 50083	NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)	TSC2 (S1354fs +9 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1686280	NM_000548.5(TSC2):c.4279dup (p.Ser1427fs)	TSC2 (S1183fs +9 more)	Duplication (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 49302	NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)	TSC2 (F1510del +9 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 803156	NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg)	TSC2 (P1450R +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 50052	NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)	TSC2 (L1562P +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GLikely pathogenic
Select item 803157	NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup)	TSC2	Duplication (inframe_insertion)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1685189	NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr)	TSC2 (P1382T +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1472268	NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)	TSC2 (V1579L +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 65215	NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)	TSC2 (S1653P +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GPathogenic
Select item 65059	NM_000548.5(TSC2):c.5068+27_5069-47del	TSC2	Microsatellite (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 449636	NM_000548.5(TSC2):c.5068+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 49949	NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)	TSC2 (S1723P +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 803158	NM_000548.5(TSC2):c.5212del (p.Ser1738fs)	TSC2 (S1494fs +10 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic/Likely pathogenic
Select item 49941	NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)	TSC2 (R1793Q +10 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 41748	NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)	TSC2 (R1795C +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign

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Items: 47