7249[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 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 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 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 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 152270	GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1	LOC130058209, LOC130058210 +3 more	Copy number loss	See cases	GPathogenic
Select item 663405	NC_000016.9:g.(?_2089915)_(2110824_?)dup	LOC130058209, LOC130058210 +2 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 642056	NC_000016.9:g.(?_2089915)_(2138621_?)dup	LOC130058209, LOC130058210 +2 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 647900	NM_002528.7(NTHL1):c.275G>A (p.Arg92His)	NTHL1, TSC2 (R92H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 57089	GRCh38/hg38 16p13.3(chr16:2046988-2060016)x3	LOC130058209, LOC130058210 +2 more	Copy number gain	See cases	GUncertain significance
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 708448	NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)	NTHL1, TSC2 (R25K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2645966	NM_000548.4(TSC2):c.-141G>C	TSC2	Single nucleotide variant	not provided	GBenign
Select item 318301	NM_000548.5(TSC2):c.-87A>G	TSC2	Single nucleotide variant (5 prime UTR variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 318302	NM_000548.5(TSC2):c.-85G>C	TSC2	Single nucleotide variant (5 prime UTR variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 885578	NM_000548.5(TSC2):c.-82G>T	TSC2	Single nucleotide variant (5 prime UTR variant)	Isolated focal cortical dysplasia type II +3 more	GUncertain significance
Select item 885579	NM_000548.5(TSC2):c.-72T>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	Tuberous sclerosis syndrome	GLikely benign
Select item 318303	NM_000548.5(TSC2):c.-65G>C	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not provided +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 2707744	NM_000548.5(TSC2):c.-47_-30+2del	LOC130058210, TSC2	Deletion (splice donor variant)	Tuberous sclerosis 2	GUncertain significance
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 2202570	NM_000548.5(TSC2):c.-33_-30+10del	LOC130058210, TSC2	Deletion (splice donor variant)	Tuberous sclerosis 2	GUncertain significance
Select item 507556	NM_000548.5(TSC2):c.-36G>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	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 2730611	NM_000548.5(TSC2):c.-30+2_-30+22del	LOC130058210, TSC2	Deletion (splice donor variant)	Tuberous sclerosis 2	GUncertain significance
Select item 207767	NM_000548.5(TSC2):c.-30+1G>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2 +3 more	GUncertain significance
Select item 133423	NM_000548.5(TSC2):c.-30+1G>T	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 207788	NM_000548.5(TSC2):c.-30+2T>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	TSC2-related condition +2 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 specified +2 more	GBenign
Select item 1709570	NM_000548.5(TSC2):c.-29-7T>G	TSC2	Single nucleotide variant (intron variant)	Tuberous sclerosis 2	GUncertain significance
Select item 417366	NC_000016.9:g.(?_2098588)_(2138713_?)dup	PKD1, TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 417364	NC_000016.10:g.(?_2048587)_(2065635_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 661734	NC_000016.10:g.(?_2048596)_(2074415_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 646381	NC_000016.10:g.(?_2048596)_(2119398_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 584071	NC_000016.10:g.(?_2048596)_(2106697_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 467833	NC_000016.10:g.(?_2048596)_(2048773_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 536118	NC_000016.9:g.(?_2098611)_(2110820_?)dup	TSC2	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 536113	NC_000016.10:g.(?_2048610)_(2088616_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2626428	NM_000548.5(TSC2):c.-5C>T	TSC2 (S10F)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 825358	NM_000548.5(TSC2):c.-4C>T	TSC2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1368130	NM_000548.5(TSC2):c.1A>G (p.Met1Val)	TSC2 (M12V +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1378864	NM_000548.5(TSC2):c.2T>A (p.Met1Lys)	TSC2 (M12K +1 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 2	GUncertain significance
Select item 1002972	NM_000548.5(TSC2):c.2T>C (p.Met1Thr)	TSC2 (M12T +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 593812	NM_000548.5(TSC2):c.3G>T (p.Met1Ile)	TSC2 (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 65284	NM_000548.5(TSC2):c.3G>A (p.Met1Ile)	TSC2 (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 50001	NM_000548.5(TSC2):c.4del (p.Ala2fs)	TSC2 (A2fs +1 more)	Deletion (frameshift variant +3 more)	Tuberous sclerosis syndrome	Gnot provided
Select item 1929319	NM_000548.5(TSC2):c.4G>A (p.Ala2Thr)	TSC2 (A2T +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 1744709	NM_000548.5(TSC2):c.4G>C (p.Ala2Pro)	TSC2 (A13P +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1369100	NM_000548.5(TSC2):c.4G>T (p.Ala2Ser)	TSC2 (A2S +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GBenign
Select item 852633	NM_000548.5(TSC2):c.5C>T (p.Ala2Val)	TSC2 (A13V +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 2822357	NM_000548.5(TSC2):c.6C>G (p.Ala2=)	TSC2	Single nucleotide variant (synonymous variant +3 more)	Tuberous sclerosis 2	GLikely benign
Select item 1674584	NM_000548.5(TSC2):c.9A>G (p.Lys3=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
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 2916828	NM_000548.5(TSC2):c.10C>T (p.Pro4Ser)	TSC2 (P4S +1 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 2	GUncertain significance
Select item 658500	NM_000548.5(TSC2):c.11C>T (p.Pro4Leu)	TSC2 (P4L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2873020	NM_000548.5(TSC2):c.12A>G (p.Pro4=)	TSC2	Single nucleotide variant (synonymous variant +3 more)	Tuberous sclerosis 2	GBenign
Select item 838370	NM_000548.5(TSC2):c.13del (p.Thr5fs)	TSC2 (T16fs +1 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 49728	NM_000548.5(TSC2):c.13A>G (p.Thr5Ala)	TSC2 (T5A +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GBenign
Select item 1352877	NM_000548.5(TSC2):c.16dup (p.Ser6fs)	TSC2 (S17fs +1 more)	Duplication (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 856629	NM_000548.5(TSC2):c.16A>T (p.Ser6Cys)	TSC2 (S6C +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 535932	NM_000548.5(TSC2):c.16A>G (p.Ser6Gly)	TSC2 (S6G +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1468757	NM_000548.5(TSC2):c.17G>C (p.Ser6Thr)	TSC2 (S17T +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GBenign
Select item 230395	NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)	TSC2 (S6N +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1456721	NM_000548.5(TSC2):c.20_21del (p.Lys7fs)	TSC2 (K18fs +1 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 64934	NM_000548.5(TSC2):c.19A>T (p.Lys7Ter)	TSC2 (K7* +1 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis syndrome	Gnot provided
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 943258	NM_000548.5(TSC2):c.20A>C (p.Lys7Thr)	TSC2 (K7T +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
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 +3 more	GBenign/Likely benign
Select item 1458427	NM_000548.5(TSC2):c.22del (p.Asp8fs)	TSC2 (D8fs +1 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 644667	NM_000548.5(TSC2):c.22G>A (p.Asp8Asn)	TSC2 (D19N +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 65313	NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)	TSC2 (S9* +1 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis 2	GPathogenic
Select item 2112887	NM_000548.5(TSC2):c.27A>C (p.Ser9=)	TSC2	Single nucleotide variant (synonymous variant +3 more)	Tuberous sclerosis 2	GLikely benign
Select item 467971	NM_000548.5(TSC2):c.27A>G (p.Ser9=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
Select item 2847717	NM_000548.5(TSC2):c.28G>C (p.Gly10Arg)	TSC2 (G21R +1 more)	Single nucleotide variant (missense variant +3 more)	Tuberous sclerosis 2	GUncertain significance
Select item 937943	NM_000548.5(TSC2):c.29G>T (p.Gly10Val)	TSC2 (G10V +1 more)	Single nucleotide variant (missense variant +2 more)	Tuberous sclerosis 2	GUncertain significance
Select item 397515	NC_000016.9:g.(?_2098645)_(2130379_2131595)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2564647	NM_000548.5(TSC2):c.30C>A (p.Gly10=)	TSC2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 702471	NM_000548.5(TSC2):c.30C>G (p.Gly10=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2	GLikely benign
Select item 232373	NM_000548.5(TSC2):c.30C>T (p.Gly10=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Tuberous sclerosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 2564648	NM_000548.5(TSC2):c.31T>G (p.Leu11Val)	TSC2 (L11V +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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)	Tuberous sclerosis 2 +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 787557	NM_000548.5(TSC2):c.33G>A (p.Leu11=)	TSC2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 12394	NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)	TSC2 (K12* +1 more)	Single nucleotide variant (nonsense +2 more)	Tuberous sclerosis 2	GPathogenic

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