"GeneDx"[submitter] AND "TSC2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1910

<< First< Prev

Page of 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 647900	NM_002528.7(NTHL1):c.275G>A (p.Arg92His)	NTHL1, TSC2 (R92H)	Single nucleotide variant (missense variant +1 more)	Lymphangiomyomatosis +6 more	GUncertain significance
Select item 708448	NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)	NTHL1, TSC2 (R25K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318303	NM_000548.5(TSC2):c.-65G>C	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GBenign/Likely benign
Select item 420608	NM_000548.5(TSC2):c.-50_-43dup	LOC130058210, TSC2	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 420318	NM_000548.5(TSC2):c.-51_-36delinsCGCGCTC	LOC130058210, TSC2	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 1243273	NM_000548.5(TSC2):c.-48C>G	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 506728	NM_000548.5(TSC2):c.-45G>T	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383242	NM_000548.5(TSC2):c.-40C>T	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 207701	NM_000548.5(TSC2):c.-38C>T	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507556	NM_000548.5(TSC2):c.-36G>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378770	NM_000548.5(TSC2):c.-34G>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 207767	NM_000548.5(TSC2):c.-30+1G>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	Lymphangiomyomatosis +3 more	GUncertain significance
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 207788	NM_000548.5(TSC2):c.-30+2T>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 670053	NM_000548.5(TSC2):c.-30+25_-30+45del	LOC130058210, TSC2	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 373780	NM_000548.5(TSC2):c.-30+5G>T	LOC130058210, TSC2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 677387	NM_000548.5(TSC2):c.-30+134C>T	LOC130058210, TSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513656	NM_000548.5(TSC2):c.-29-18C>T	TSC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 509764	NM_000548.5(TSC2):c.-29-17C>T	TSC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 137734	NM_000548.5(TSC2):c.-29-10G>C	TSC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1002972	NM_000548.5(TSC2):c.2T>C (p.Met1Thr)	TSC2 (M12T +1 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 817302	NM_000548.5(TSC2):c.11dup (p.Thr5fs)	TSC2 (T5fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 49599	NM_000548.5(TSC2):c.21del (p.Asp8fs)	TSC2 (D19fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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 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 207789	NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)	TSC2	Deletion (nonsense +2 more)	not provided	GPathogenic
Select item 1395321	NM_000548.5(TSC2):c.41A>G (p.Lys14Arg)	TSC2 (K14R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 217252	NM_000548.5(TSC2):c.45dup (p.Lys16Ter)	TSC2 (K16* +1 more)	Duplication (nonsense +2 more)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 569456	NM_000548.5(TSC2):c.70C>A (p.Pro24Thr)	TSC2 (P24T +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2 +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 817810	NM_000548.5(TSC2):c.87_105del (p.Ser30fs)	TSC2 (S30fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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 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 2443651	NM_000548.5(TSC2):c.102A>C (p.Lys34Asn)	TSC2 (K34N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 451943	NM_000548.5(TSC2):c.113_114dup (p.Ile39fs)	TSC2 (I39fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 141455	NM_000548.5(TSC2):c.119T>C (p.Ile40Thr)	TSC2 (I40T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 419408	NM_000548.5(TSC2):c.131_132del (p.Ile44fs)	TSC2 (I44fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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 373664	NM_000548.5(TSC2):c.134_138+1delinsC	TSC2	Indel (splice donor variant +1 more)	not provided	GPathogenic
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 49155	NM_000548.5(TSC2):c.138+2T>C	TSC2	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1052020	NM_000548.5(TSC2):c.138+4A>G	TSC2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 50192	NM_000548.5(TSC2):c.138+5G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +4 more	GPathogenic/Likely pathogenic OUncertain significance
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 514347	NM_000548.5(TSC2):c.138+16G>A	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +1 more	GLikely benign
Select item 49758	NM_000548.5(TSC2):c.138+20C>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2 +2 more	GBenign
Select item 677676	NM_000548.5(TSC2):c.138+211T>C	TSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190971	NM_000548.5(TSC2):c.138+263C>A	TSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190062	NM_000548.5(TSC2):c.139-160A>G	TSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517101	NM_000548.5(TSC2):c.139-15T>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
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 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 406067	NM_000548.5(TSC2):c.149T>C (p.Met50Thr)	TSC2 (M50T +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 514502	NM_000548.5(TSC2):c.153A>G (p.Glu51=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	Tuberous sclerosis 2 +2 more	GLikely benign
Select item 535994	NM_000548.5(TSC2):c.164A>G (p.Asn55Ser)	TSC2 (N55S +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +1 more	GUncertain significance
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 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 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 840098	NM_000548.5(TSC2):c.217T>G (p.Phe73Val)	TSC2 (F24V +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +1 more	GUncertain significance
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 834629	NM_000548.5(TSC2):c.225+2T>C	TSC2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 509671	NM_000548.5(TSC2):c.225+19G>A	TSC2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1262223	NM_000548.5(TSC2):c.225+133del	TSC2	Deletion (intron variant)	not provided	GBenign
Select item 680816	NM_000548.5(TSC2):c.226-338C>T	TSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673418	NM_000548.5(TSC2):c.226-82C>T	TSC2	Single nucleotide variant (intron variant)	not provided	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 3369761	NM_000548.5(TSC2):c.253G>A (p.Val85Ile)	TSC2 (V36I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 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 406038	NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)	TSC2 (P94L +2 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2 +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 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

<< First< Prev

Page of 20