C1860707[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1641

<< First< Prev

Page of 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 230395	NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)	TSC2 (S6N +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 49194	NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)	TSC2 (K7R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 232373	NM_000548.5(TSC2):c.30C>T (p.Gly10=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 536078	NM_000548.5(TSC2):c.31T>C (p.Leu11=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 419946	NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=)	TSC2	Indel (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 825353	NM_000548.5(TSC2):c.49A>G (p.Ile17Val)	TSC2 (I17V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 451829	NM_000548.5(TSC2):c.77C>T (p.Pro26Leu)	TSC2 (P26L +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome +3 more	GUncertain significance
Select item 385045	NM_000548.5(TSC2):c.83C>A (p.Pro28His)	TSC2 (P28H +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 589718	NM_000548.5(TSC2):c.96G>A (p.Glu32=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 486639	NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)	TSC2 (G33S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 207654	NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)	TSC2 (K34T +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 207655	NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)	TSC2 (T36A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 413639	NM_000548.5(TSC2):c.108G>A (p.Thr36=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 413678	NM_000548.5(TSC2):c.123C>T (p.Thr41=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 287010	NM_000548.5(TSC2):c.126G>A (p.Ala42=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 864308	NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)	TSC2 (E43K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 535920	NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)	TSC2 (I44T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 207778	NM_000548.5(TSC2):c.132A>G (p.Ile44Met)	TSC2 (I44M +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 49151	NM_000548.5(TSC2):c.133_136del (p.Leu45fs)	TSC2 (L45fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 467861	NM_000548.5(TSC2):c.133C>T (p.Leu45=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis syndrome +3 more	GBenign/Likely benign
Select item 49675	NM_000548.5(TSC2):c.138_138+1del	TSC2	Microsatellite (splice donor variant +1 more)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 137736	NM_000548.5(TSC2):c.138+14C>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GBenign
Select item 413623	NM_000548.5(TSC2):c.139-6C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome +2 more	GBenign/Likely benign
Select item 579576	NM_000548.5(TSC2):c.139-1G>A	TSC2	Single nucleotide variant (splice acceptor variant)	Tuberous sclerosis 2	GPathogenic
Select item 237966	NM_000548.5(TSC2):c.148A>G (p.Met50Val)	TSC2 (M50V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 207736	NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)	TSC2 (E51A +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 819736	NM_000548.5(TSC2):c.165C>T (p.Asn55=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +1 more	GBenign/Likely benign
Select item 161398	NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)	TSC2 (N56S +2 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 535903	NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)	TSC2 (R57C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 659055	NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)	TSC2 (R10W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 486661	NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)	TSC2 (R59Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 65108	NM_000548.5(TSC2):c.190A>G (p.Ile64Val)	TSC2 (I64V +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 50100	NM_000548.5(TSC2):c.201C>T (p.Val67=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome +5 more	GBenign/Likely benign
Select item 810703	NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)	TSC2 (T21N +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 207740	NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)	TSC2 (K71N +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 467927	NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)	TSC2 (K72R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 161399	NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)	TSC2 (E75K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 406046	NM_000548.5(TSC2):c.225+5G>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +1 more	GLikely benign
Select item 256624	NM_000548.5(TSC2):c.226-13C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 207787	NM_000548.5(TSC2):c.226C>T (p.His76Tyr)	TSC2 (H76Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 49202	NM_000548.5(TSC2):c.228C>T (p.His76=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 576940	NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)	TSC2 (A77T +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 1111873	NM_000548.5(TSC2):c.231A>C (p.Ala77=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 49212	NM_000548.5(TSC2):c.251C>T (p.Ala84Val)	TSC2 (A84V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 49572	NM_000548.5(TSC2):c.255C>T (p.Val85=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 574849	NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)	TSC2 (A86T +2 more)	Single nucleotide variant (missense variant +1 more)	TSC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 578585	NM_000548.5(TSC2):c.257C>T (p.Ala86Val)	TSC2 (A86V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 318305	NM_000548.5(TSC2):c.258G>C (p.Ala86=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 64887	NM_000548.5(TSC2):c.258G>A (p.Ala86=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 49217	NM_000548.5(TSC2):c.262C>T (p.Leu88=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 762237	NM_000548.5(TSC2):c.264G>A (p.Leu88=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 49738	NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	TSC2 (Q90* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 467958	NM_000548.5(TSC2):c.270G>A (p.Gln90=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +3 more	GBenign/Likely benign
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 413680	NM_000548.5(TSC2):c.273G>A (p.Pro91=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome +3 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 467970	NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)	TSC2 (R93Q +2 more)	Single nucleotide variant (missense variant +1 more)	Isolated focal cortical dysplasia type II +3 more	GConflicting classifications of pathogenicity
Select item 238001	NM_000548.5(TSC2):c.282G>A (p.Pro94=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +3 more	GBenign/Likely benign
Select item 238003	NM_000548.5(TSC2):c.291C>G (p.Ala97=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 413705	NM_000548.5(TSC2):c.292C>A (p.Arg98=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 65223	NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)	TSC2 (R98W +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 467983	NM_000548.5(TSC2):c.297C>T (p.His99=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome +3 more	GBenign/Likely benign
Select item 467984	NM_000548.5(TSC2):c.299C>T (p.Ala100Val)	TSC2 (A100V +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 50170	NM_000548.5(TSC2):c.300G>A (p.Ala100=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 238006	NM_000548.5(TSC2):c.301G>A (p.Val101Met)	TSC2 (V101M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 413748	NM_000548.5(TSC2):c.324C>T (p.Ile108=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +2 more	GBenign/Likely benign
Select item 207698	NM_000548.5(TSC2):c.325G>A (p.Val109Met)	TSC2 (V109M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 413736	NM_000548.5(TSC2):c.327G>A (p.Val109=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +3 more	GBenign/Likely benign
Select item 823605	NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)	TSC2 (G111W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 823644	NM_000548.5(TSC2):c.334C>G (p.Gln112Glu)	TSC2 (Q123E +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 388832	NM_000548.5(TSC2):c.336+5G>C	TSC2	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 390659	NM_000548.5(TSC2):c.336+8C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +1 more	GBenign/Likely benign
Select item 512755	NM_000548.5(TSC2):c.336+14C>T	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 468009	NM_000548.5(TSC2):c.337-3T>C	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +3 more	GBenign/Likely benign
Select item 65038	NM_000548.5(TSC2):c.337-1G>A	TSC2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 207699	NM_000548.5(TSC2):c.339C>T (p.Gly113=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 65349	NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)	TSC2 (E114K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 823785	NM_000548.5(TSC2):c.344G>T (p.Arg115Leu)	TSC2 (R78L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 468016	NM_000548.5(TSC2):c.344G>A (p.Arg115His)	TSC2 (R115H +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 238019	NM_000548.5(TSC2):c.352G>T (p.Val118Phe)	TSC2 (V118F +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 289837	NM_000548.5(TSC2):c.354C>G (p.Val118=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 823927	NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)	TSC2 (L119F +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 486645	NM_000548.5(TSC2):c.357C>G (p.Leu119=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 429805	NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)	TSC2 (R120* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 207766	NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)	TSC2 (A121G +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 49530	NM_000548.5(TSC2):c.363C>T (p.Ala121=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 486698	NM_000548.5(TSC2):c.366C>T (p.Leu122=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 648180	NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)	TSC2 (F87L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 468038	NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)	TSC2 (K125R +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 486657	NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)	TSC2 (K125N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 945542	NM_000548.5(TSC2):c.379A>G (p.Ile127Val)	TSC2 (I90V +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 50034	NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)	TSC2 (S132C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 468058	NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)	TSC2 (E134K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 468064	NM_000548.5(TSC2):c.408T>G (p.Leu136=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome +3 more	GBenign/Likely benign
Select item 468066	NM_000548.5(TSC2):c.411C>T (p.His137=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis syndrome +3 more	GBenign/Likely benign
Select item 480842	NM_000548.5(TSC2):c.418C>T (p.Leu140=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +1 more	GLikely benign
Select item 232927	NM_000548.5(TSC2):c.420G>A (p.Leu140=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +1 more	GBenign/Likely benign
Select item 49898	NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)	TSC2 (F143L +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 207700	NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)	TSC2 (K144R +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 486622	NM_000548.5(TSC2):c.433G>A (p.Ala145Thr)	TSC2 (A145T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign

<< First< Prev

Page of 17