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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133423	NM_000548.5(TSC2):c.-30+1G>T	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 49225	NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)	TSC2 (P91L +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 50116	NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	TSC2 (E92V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 133424	NM_000548.5(TSC2):c.336+10A>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 49809	NM_000548.5(TSC2):c.336+32C>T	TSC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 133425	NM_000548.5(TSC2):c.336+103del	TSC2	Deletion (intron variant)	not specified	Gnot provided
Select item 133426	NM_000548.5(TSC2):c.336+197C>G	TSC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133427	NM_000548.5(TSC2):c.336+229C>T	TSC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133428	NM_000548.5(TSC2):c.336+233T>C	TSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 133429	NM_000548.5(TSC2):c.336+377T>C	TSC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133430	NM_000548.5(TSC2):c.336+385C>G	TSC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135378	NM_000548.5(TSC2):c.595G>C (p.Val199Leu)	TSC2 (V199L +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GBenign
Select item 135379	NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)	TSC2 (D282E +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 50009	NM_000548.5(TSC2):c.856A>G (p.Met286Val)	TSC2 (M286V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +6 more	GBenign/Likely benign
Select item 135370	NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)	TSC2 (V356L +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 41724	NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)	TSC2 (A357V +4 more)	Single nucleotide variant (missense variant)	not provided +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)	not specified +4 more	GBenign
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 +4 more	GConflicting classifications of pathogenicity
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 49674	NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)	TSC2 (I463V +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 135371	NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)	TSC2 (V534L +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +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 135372	NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)	TSC2 (A607V +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 135373	NM_000548.5(TSC2):c.1912G>A (p.Val638Met)	TSC2 (V638M +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 50189	NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)	TSC2 (M649T +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 65307	NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)	TSC2 (K658T +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135374	NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile)	TSC2 (T783I +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GBenign/Likely benign
Select item 135375	NM_000548.5(TSC2):c.2761C>G (p.Leu921Val)	TSC2 (L921V +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 135376	NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys)	TSC2 (S923C +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 49565	NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)	TSC2 (V1047A +6 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135381	NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln)	TSC2 (R1138Q +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 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)	Tuberous sclerosis 2 +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)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 49754	NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)	TSC2 (R1159W +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 135380	NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)	TSC2 (T1181M +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 135377	NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)	TSC2	Indel (inframe_indel +1 more)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133431	NM_000548.5(TSC2):c.3884-150G>A	TSC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133432	NM_000548.5(TSC2):c.3884-47G>T	TSC2	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 41736	NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)	TSC2 (A1297T +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135382	NM_000548.5(TSC2):c.3913_3916delinsTGGA (p.Pro1305_Gly1306delinsTrpSer)	TSC2	Indel (missense variant)	not specified	Gnot provided
Select item 41737	NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)	TSC2 (P1305L +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +4 more	GBenign/Likely benign
Select item 135383	NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)	TSC2 (E1321V +9 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +4 more	GConflicting classifications of pathogenicity
Select item 135384	NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)	TSC2 (E1321D +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41738	NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)	TSC2 (R1329H +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +5 more	GBenign/Likely benign
Select item 135385	NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)	TSC2 (S1336L +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135386	NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)	TSC2 (R1369Q +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 50062	NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)	TSC2 (G1399R +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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)	not specified +6 more	GBenign/Likely benign
Select item 65126	NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)	TSC2 (G1439D +9 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 135387	NM_000548.5(TSC2):c.4335G>T (p.Leu1445Phe)	TSC2 (L1445F +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 135388	NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)	TSC2 (A1489T +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
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 135390	NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)	TSC2 (R1634H +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 49495	NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu)	TSC2 (V1673L +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 49451	NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)	TSC2 (S1698R +9 more)	Single nucleotide variant (missense variant)	not provided +4 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)	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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57