"Biesecker Lab/Clinical Genomics Section, National Institutes of Healt - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41750	NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)	TSC2 (R308G +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41724	NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)	TSC2 (A357V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 41726	NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	TSC2 (G440S +4 more)	Single nucleotide variant (missense variant)	TSC2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 41727	NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)	TSC2 (A447V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41728	NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)	TSC2 (N486K +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 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 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 41734	NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val)	TSC2 (A1257V +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 41735	NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)	TSC2 (S1276F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 41736	NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)	TSC2 (A1297T +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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 41738	NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)	TSC2 (R1329H +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 41739	NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)	TSC2 (A1349V +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41740	NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)	TSC2 (R1409W +9 more)	Single nucleotide variant (missense variant)	TSC2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 41741	NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)	TSC2 (A1429S +9 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +6 more	GBenign/Likely benign
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 41743	NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)	TSC2 (E1528D +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41744	NM_000548.5(TSC2):c.5026C>G (p.Leu1676Val)	TSC2 (L1676V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41745	NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)	TSC2 (S1774T +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 41746	NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)	TSC2 (G1787S +10 more)	Single nucleotide variant (missense variant)	TSC2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 41747	NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)	TSC2 (V1790M +10 more)	Single nucleotide variant (missense variant)	TSC2-related condition +3 more	GConflicting classifications of pathogenicity
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 41749	NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)	TSC2 (F1806L +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 27