C1860707[trait identifier] AND "3billion"[submitter] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626196	NM_000548.5(TSC2):c.225+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Isolated focal cortical dysplasia type II +2 more	GPathogenic/Likely pathogenic
Select item 49903	NM_000548.5(TSC2):c.600-2A>G	TSC2	Single nucleotide variant (splice acceptor variant +1 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1705534	NM_000548.5(TSC2):c.775-2A>G	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2 +1 more	GLikely pathogenic
Select item 49447	NM_000548.5(TSC2):c.826_827del (p.Met276fs)	TSC2 (M227fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 65130	NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)	TSC2 (Q325* +4 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 49396	NM_000548.5(TSC2):c.976-15G>A	TSC2	Single nucleotide variant (intron variant)	TSC2-related condition +4 more	GPathogenic
Select item 1705434	NM_000548.5(TSC2):c.1067_1068dup (p.Ala357fs)	TSC2 (A157fs +4 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 2444425	NM_000548.5(TSC2):c.1659C>A (p.Tyr553Ter)	TSC2 (Y105* +10 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1687477	NM_000548.5(TSC2):c.1757T>A (p.Val586Glu)	TSC2 (V386E +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 1687239	NM_000548.5(TSC2):c.1947-83G>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GUncertain significance
Select item 49732	NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys)	TSC2 (E700K +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 65222	NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)	TSC2 (L733V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GConflicting classifications of pathogenicity
Select item 1705453	NM_000548.5(TSC2):c.2265del (p.Gly756fs)	TSC2 (G556fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1705633	NM_000548.5(TSC2):c.2537del (p.Phe846fs)	TSC2 (F646fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1705287	NM_000548.5(TSC2):c.2599dup (p.Ser867fs)	TSC2 (S667fs +4 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 49246	NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)	TSC2 (V1026fs +6 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 64972	NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)	TSC2 (Q1104* +6 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 1705626	NM_000548.5(TSC2):c.3385dup (p.Arg1129fs)	TSC2 (R1037fs +6 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1687353	NM_000548.5(TSC2):c.4085_4098del (p.Val1362fs)	TSC2 (V1118fs +9 more)	Deletion (frameshift variant)	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 2444202	NM_000548.5(TSC2):c.4410dup (p.Arg1471fs)	TSC2 (R1227fs +9 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 49301	NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)	TSC2 (Q1503* +9 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 49498	NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)	TSC2 (Q1503H +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
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 424444	NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)	TSC2 (V1646M +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12393	NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	TSC2 (P1675L +9 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +4 more	GConflicting classifications of pathogenicity
Select item 49454	NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs)	TSC2 (K1495fs +10 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GUncertain significance
Select item 12402	NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	TSC2	Deletion (inframe_deletion)	Tuberous sclerosis syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2444080	NM_000548.5(TSC2):c.5280del (p.Ser1761fs)	TSC2 (S1517fs +10 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GUncertain significance

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Items: 29