"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137734	NM_000548.5(TSC2):c.-29-10G>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome +2 more	GBenign
Select item 49758	NM_000548.5(TSC2):c.138+20C>G	TSC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 49202	NM_000548.5(TSC2):c.228C>T (p.His76=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 49212	NM_000548.5(TSC2):c.251C>T (p.Ala84Val)	TSC2 (A84V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 49572	NM_000548.5(TSC2):c.255C>T (p.Val85=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 49225	NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)	TSC2 (P91L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 49957	NM_000548.5(TSC2):c.482-3C>T	TSC2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 64873	NM_000548.5(TSC2):c.599+3A>G	TSC2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 640709	NM_000548.5(TSC2):c.700G>C (p.Glu234Gln)	TSC2 (E234Q +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 49382	NM_000548.5(TSC2):c.729C>G (p.Leu243=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 50009	NM_000548.5(TSC2):c.856A>G (p.Met286Val)	TSC2 (M286V +4 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 64946	NM_000548.5(TSC2):c.975+13C>T	TSC2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 41725	NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)	TSC2 (R367Q +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 49141	NM_000548.5(TSC2):c.1110G>A (p.Gln370=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 49685	NM_000548.5(TSC2):c.1281C>A (p.Ile427=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 41726	NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	TSC2 (G440S +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 49703	NM_000548.5(TSC2):c.1362-32C>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GLikely benign
Select item 65195	NM_000548.5(TSC2):c.1362-4G>A	TSC2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 65190	NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)	TSC2 (E456K +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 49660	NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)	TSC2 (A460T +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 65170	NM_000548.5(TSC2):c.1543C>T (p.Leu515=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 49162	NM_000548.5(TSC2):c.1578C>T (p.Ser526=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 49163	NM_000548.5(TSC2):c.1593C>T (p.Ile531=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 50139	NM_000548.5(TSC2):c.1600-14C>T	TSC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 65157	NM_000548.5(TSC2):c.1717-55T>C	TSC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 41729	NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)	TSC2 (A583T +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 49658	NM_000548.5(TSC2):c.1839+6G>A	TSC2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 49616	NM_000548.5(TSC2):c.2031C>T (p.Pro677=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 184135	NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)	TSC2 (A678T +4 more)	Single nucleotide variant (missense variant)	TSC2-related condition +5 more	GBenign/Likely benign
Select item 49716	NM_000548.5(TSC2):c.2073C>T (p.Arg691=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 64860	NM_000548.5(TSC2):c.2427C>T (p.Ser809=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 41732	NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)	TSC2 (L826M +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 65156	NM_000548.5(TSC2):c.2546-31G>A	TSC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 49214	NM_000548.5(TSC2):c.2546-12C>T	TSC2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 49573	NM_000548.5(TSC2):c.2580T>C (p.Phe860=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 50084	NM_000548.5(TSC2):c.2639+44C>G	TSC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 12404	NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	TSC2 (R905W +4 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +5 more	GPathogenic
Select item 49718	NM_000548.5(TSC2):c.2838-4A>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +6 more	GBenign/Likely benign
Select item 64997	NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)	TSC2 (R988P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 49772	NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)	TSC2 (T993M +6 more)	Single nucleotide variant (missense variant)	TSC2-related condition +3 more	GBenign/Likely benign
Select item 49773	NM_000548.5(TSC2):c.2979G>A (p.Thr993=)	TSC2	Single nucleotide variant (synonymous variant)	TSC2-related condition +5 more	GBenign/Likely benign
Select item 65303	NM_000548.5(TSC2):c.3036C>T (p.Asp1012=)	TSC2	Single nucleotide variant (synonymous variant)	TSC2-related condition +4 more	GBenign/Likely benign
Select item 49740	NM_000548.5(TSC2):c.3126G>T (p.Pro1042=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 49739	NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +6 more	GBenign/Likely benign
Select item 49551	NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)	TSC2 (A1141V +6 more)	Single nucleotide variant (missense variant)	not specified +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 50090	NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)	TSC2 (A1164V +6 more)	Single nucleotide variant (missense variant)	TSC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 49764	NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)	TSC2 (Y1186C +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +7 more	GBenign/Likely benign
Select item 49266	NM_000548.5(TSC2):c.3610+6G>A	TSC2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 49271	NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 50027	NM_000548.5(TSC2):c.3883+8C>G	TSC2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 49513	NM_000548.5(TSC2):c.3884-17C>G	TSC2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 41737	NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)	TSC2 (P1305L +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 49280	NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +6 more	GBenign
Select item 41738	NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)	TSC2 (R1329H +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 49503	NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 49289	NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 41741	NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)	TSC2 (A1429S +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +6 more	GBenign/Likely benign
Select item 238053	NM_000548.5(TSC2):c.4493+7C>A	TSC2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1210005	NM_000548.5(TSC2):c.4494-12dup	TSC2	Duplication (intron variant)	Tuberous sclerosis 2	GBenign
Select item 480844	NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 50030	NM_000548.5(TSC2):c.4662+18G>A	TSC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 49325	NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)	TSC2 (I1614del +9 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 65110	NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 49818	NM_000548.5(TSC2):c.4959C>T (p.Ser1653=)	TSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 49467	NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 50002	NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)	TSC2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 49442	NM_000548.5(TSC2):c.5068+9G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 49456	NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)	TSC2 (R1706H +9 more)	Single nucleotide variant (missense variant)	TSC2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 49854	NM_000548.5(TSC2):c.5161-9C>T	TSC2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 49359	NM_000548.5(TSC2):c.5161-4C>G	TSC2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 49895	NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)	TSC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 49960	NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	TSC2 (R1743Q +10 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 49420	NM_000548.5(TSC2):c.5260-49C>T	TSC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 49976	NM_000548.5(TSC2):c.5260-25C>G	TSC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 49975	NM_000548.5(TSC2):c.5260-15C>T	TSC2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 41745	NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)	TSC2 (S1774T +10 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +5 more	GBenign/Likely benign
Select item 238086	NM_000548.5(TSC2):c.5346C>T (p.Ala1782=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +3 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
Select item 49847	NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)	TSC2	Single nucleotide variant (synonymous variant)	Tuberous sclerosis 2 +4 more	GBenign
Select item 50172	NM_000548.5(TSC2):c.61_62del	TSC2	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 81