"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930277	NM_000548.5(TSC2):c.501G>A (p.Trp167Ter)	TSC2 (W130* +3 more)	Single nucleotide variant (nonsense +1 more)	Lymphangiomyomatosis	GPathogenic
Select item 49923	NM_000548.5(TSC2):c.848+281C>T	TSC2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 374159	NM_000548.5(TSC2):c.886G>A (p.Val296Met)	TSC2 (V296M +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 931277	NM_000548.5(TSC2):c.1119+7T>G	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis	GUncertain significance
Select item 207708	NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)	TSC2 (A431V +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +5 more	GBenign/Likely benign
Select item 930794	NM_000548.5(TSC2):c.1583dup (p.Asp529fs)	TSC2 (D480fs +4 more)	Duplication (frameshift variant)	Lymphangiomyomatosis	GPathogenic
Select item 931827	NM_000548.5(TSC2):c.2966+24del	TSC2	Deletion (intron variant)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 930390	NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)	TSC2 (L915I +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 50041	NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer)	TSC2	Deletion (nonsense)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 930490	NM_000548.5(TSC2):c.3132-13C>T	TSC2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 931337	NM_000548.5(TSC2):c.3132-3T>C	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis +1 more	GConflicting classifications of pathogenicity
Select item 406126	NM_000548.5(TSC2):c.3284+6T>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 49539	NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)	TSC2 (N1200* +6 more)	Duplication (nonsense)	Lymphangiomyomatosis +2 more	GPathogenic
Select item 931762	NM_000548.5(TSC2):c.4262G>C (p.Gly1421Ala)	TSC2 (G1177A +9 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis	GUncertain significance
Select item 238047	NM_000548.5(TSC2):c.4473del (p.Val1492fs)	TSC2 (V1436fs +9 more)	Deletion (frameshift variant)	Lymphangiomyomatosis +2 more	GPathogenic
Select item 50031	NM_000548.5(TSC2):c.4662+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Lymphangiomyomatosis +3 more	GPathogenic
Select item 373972	NM_000548.5(TSC2):c.5160+4A>C	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis	GPathogenic
Select item 575511	NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala)	TSC2 (P1732A +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 41748	NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)	TSC2 (R1795C +10 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +5 more	GBenign/Likely benign