ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis 1 by Invitae

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Total variants: 59
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HGVS dbSNP
NC_000009.12:g.(?_132896215)_(132904474_?)del
NC_000009.12:g.(?_132896229)_(132928878_?)del
NC_000009.12:g.(?_132900715)_(132912457_?)dup
NC_000009.12:g.(?_132910551)_(132912477_?)del
NM_000368.4(TSC1):c.1073delC (p.Pro358Leufs) rs1554817259
NM_000368.4(TSC1):c.1130_1131delTT (p.Phe377Trpfs) rs1554817222
NM_000368.4(TSC1):c.1208C>A (p.Ser403Ter) rs118203504
NM_000368.4(TSC1):c.1301dup (p.Gln435Thrfs) rs1554816394
NM_000368.4(TSC1):c.1388dup (p.Leu463Phefs) rs1064796237
NM_000368.4(TSC1):c.1446_1447delAT (p.Ser483Terfs) rs1554816076
NM_000368.4(TSC1):c.1453G>T (p.Glu485Ter)
NM_000368.4(TSC1):c.146delA (p.Tyr49Serfs) rs397514861
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1518delC (p.Tyr508Thrfs) rs1060503210
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.1530_1531delCA (p.Asp510Glufs) rs118203544
NM_000368.4(TSC1):c.1541_1549delGTTCTCAGCinsTG (p.Gly514Valfs)
NM_000368.4(TSC1):c.1758delT (p.Cys586Terfs) rs1554815856
NM_000368.4(TSC1):c.1781delT (p.Val594Glyfs) rs1554815829
NM_000368.4(TSC1):c.1849delC (p.His617Ilefs)
NM_000368.4(TSC1):c.1888_1891delAAAG (p.Lys630Glnfs)
NM_000368.4(TSC1):c.1896delA (p.Gly633Glufs)
NM_000368.4(TSC1):c.1904_1905delCA (p.Thr635Argfs) rs118203597
NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.4(TSC1):c.1998-1G>T rs118203614
NM_000368.4(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2105_2106insCT (p.Leu702Phefs)
NM_000368.4(TSC1):c.211-1G>A rs118203353
NM_000368.4(TSC1):c.2111_2112delAT (p.Tyr704Terfs) rs118203645
NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.4(TSC1):c.2165delA (p.Lys722Argfs) rs1060503213
NM_000368.4(TSC1):c.2177_2180dup (p.Ala728Serfs) rs1554815246
NM_000368.4(TSC1):c.2231_2235delAGAAG (p.Glu744Glyfs) rs1554815049
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.4(TSC1):c.2341_2360dup20 (p.Glu787Aspfs) rs1554814935
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2488C>T (p.Gln830Ter)
NM_000368.4(TSC1):c.24_42del19insCAA (p.Glu9Lysfs) rs1554821022
NM_000368.4(TSC1):c.2510dupA (p.Asn837Lysfs) rs118203709
NM_000368.4(TSC1):c.2515_2518delGAGT (p.Glu839Argfs) rs794727320
NM_000368.4(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.4(TSC1):c.2545_2566delAACAGGCAGCTGTTGGTTCTTG (p.Asn849Glyfs)
NM_000368.4(TSC1):c.2672dupA (p.Asn891Lysfs) rs118203724
NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.4(TSC1):c.395_406delGCGTCTTGGTGTinsCA (p.Gly132Alafs) rs118203380
NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
NM_000368.4(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.4(TSC1):c.850dup (p.Arg284Profs) rs1554817612
NM_000368.4(TSC1):c.86_90dup (p.Glu31Leufs)
NM_000368.4(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.4(TSC1):c.988_989insGA (p.Leu330Argfs)
NM_000368.4(TSC1):c.997_998delCC (p.Pro333Ilefs)

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