7248[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625198	t(8;9)(q24.22;q34.13)	TMEM71, TSC1	Translocation	Neoplasm of the pancreas	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003086, LOC130003087 +530 more	Copy number gain	See cases	GPathogenic
Select item 1696834	NC_000009.12:g.132691768_133013020del	TSC1, AK8 +11 more	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 397550	NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del	AK8, SPACA9 +1 more	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 369622	NM_000368.4(TSC1):c.*4898G>A	TSC1	Single nucleotide variant	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 365384	NM_000368.5(TSC1):c.*4845G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365385	NM_000368.5(TSC1):c.*4826A>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 913083	NM_000368.5(TSC1):c.*4788A>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 365386	NM_000368.5(TSC1):c.*4763T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 913084	NM_000368.5(TSC1):c.*4680G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 365387	NM_000368.5(TSC1):c.*4631dup	TSC1	Duplication (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365388	NM_000368.5(TSC1):c.*4631del	TSC1	Deletion (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GLikely benign
Select item 365389	NM_000368.5(TSC1):c.*4622G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 64768	NM_000368.5(TSC1):c.*4591G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 914228	NM_000368.5(TSC1):c.*4538A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 914229	NM_000368.5(TSC1):c.*4522C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365390	NM_000368.5(TSC1):c.*4515G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 914230	NM_000368.5(TSC1):c.*4492T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365391	NM_000368.5(TSC1):c.*4447C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365392	NM_000368.5(TSC1):c.*4437G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 365393	NM_000368.5(TSC1):c.*4385G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 365394	NM_000368.5(TSC1):c.*4356C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365395	NM_000368.5(TSC1):c.*4254G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365397	NM_000368.5(TSC1):c.*4248C>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365396	NM_000368.5(TSC1):c.*4248C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365398	NM_000368.5(TSC1):c.*4233G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365399	NM_000368.5(TSC1):c.*4193A>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365400	NM_000368.5(TSC1):c.*4167C>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365401	NM_000368.5(TSC1):c.*4159G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365402	NM_000368.5(TSC1):c.*4128G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 912765	NM_000368.5(TSC1):c.*4119T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 912766	NM_000368.5(TSC1):c.*4105C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365403	NM_000368.5(TSC1):c.*4072G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365404	NM_000368.5(TSC1):c.*4057G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 365405	NM_000368.5(TSC1):c.*3997G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365406	NM_000368.5(TSC1):c.*3988G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 365407	NM_000368.5(TSC1):c.*3987A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 913127	NM_000368.5(TSC1):c.*3959T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365408	NM_000368.5(TSC1):c.*3952A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 64803	NM_000368.5(TSC1):c.*3936C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 64717	NM_000368.5(TSC1):c.*3935C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 365409	NM_000368.5(TSC1):c.*3924G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365410	NM_000368.5(TSC1):c.*3836G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 2659661	NM_000368.5(TSC1):c.*3833C>A	TSC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 365411	NM_000368.5(TSC1):c.*3830C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 365412	NM_000368.5(TSC1):c.*3737C>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365413	NM_000368.5(TSC1):c.*3729G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GBenign
Select item 914772	NM_000368.5(TSC1):c.*3685G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365414	NM_000368.5(TSC1):c.*3679G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GBenign
Select item 365415	NM_000368.5(TSC1):c.*3658G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 912812	NM_000368.5(TSC1):c.*3648C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365416	NM_000368.5(TSC1):c.*3565C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 365417	NM_000368.5(TSC1):c.*3543C>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365418	NM_000368.5(TSC1):c.*3538A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GBenign
Select item 365419	NM_000368.5(TSC1):c.*3531G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 912813	NM_000368.5(TSC1):c.*3484A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365420	NM_000368.5(TSC1):c.*3448C>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GBenign
Select item 365421	NM_000368.5(TSC1):c.*3330G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365422	NM_000368.5(TSC1):c.*3285G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365423	NM_000368.5(TSC1):c.*3284C>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 913173	NM_000368.5(TSC1):c.*3272A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 64711	NM_000368.5(TSC1):c.*3260G>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 64840	NM_000368.5(TSC1):c.*3258G>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome	Gnot provided
Select item 365424	NM_000368.5(TSC1):c.3248_3250del	TSC1	Deletion (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365425	NM_000368.5(TSC1):c.*3240G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365426	NM_000368.5(TSC1):c.*3239G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365427	NM_000368.5(TSC1):c.*3238T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 913174	NM_000368.5(TSC1):c.*3170G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 913175	NM_000368.5(TSC1):c.*3092T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365428	NM_000368.5(TSC1):c.*3063A>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365429	NM_000368.5(TSC1):c.*3047C>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 914310	NM_000368.5(TSC1):c.*3045A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 914311	NM_000368.5(TSC1):c.*3034T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365430	NM_000368.5(TSC1):c.*2949A>T	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 914312	NM_000368.5(TSC1):c.*2924T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365431	NM_000368.5(TSC1):c.*2904G>T	TSC1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 365432	NM_000368.5(TSC1):c.*2897A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 365433	NM_000368.5(TSC1):c.*2893dup	TSC1	Duplication (3 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 64727	NM_000368.5(TSC1):c.*2893del	TSC1	Deletion (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GLikely benign
Select item 914814	NM_000368.5(TSC1):c.*2890A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365434	NM_000368.5(TSC1):c.*2874G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GBenign
Select item 365435	NM_000368.5(TSC1):c.*2872G>A	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GBenign
Select item 912853	NM_000368.5(TSC1):c.*2854T>C	TSC1	Single nucleotide variant (3 prime UTR variant)	Isolated focal cortical dysplasia type II +1 more	GUncertain significance
Select item 365436	NM_000368.5(TSC1):c.*2829A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GUncertain significance
Select item 365437	NM_000368.5(TSC1):c.*2733A>G	TSC1	Single nucleotide variant (3 prime UTR variant)	Tuberous sclerosis 1 +1 more	GBenign

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