79809[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 652948	NC_000002.12:g.(?_165090130)_(166286643_?)del	SCN9A, TTC21B +17 more	Deletion	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GPathogenic
Select item 651833	NC_000002.12:g.(?_165090130)_(166311776_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 530654	NC_000002.12:g.(?_165090130)_(166228992_?)del	LOC129935047, TTC21B +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 155321	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1	CSRNP3, GALNT3 +16 more	Copy number loss	See cases	GPathogenic
Select item 153359	GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1	CSRNP3, GALNT3 +14 more	Copy number loss	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 655230	NC_000002.11:g.(?_166152314)_(167108415_?)dup	CSRNP3, GALNT3 +14 more	Duplication	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 146138	GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 58906	GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 893037	NM_024753.5(TTC21B):c.*1225C>T	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GLikely benign
Select item 331797	NM_024753.5(TTC21B):c.*1123dup	TTC21B	Duplication (3 prime UTR variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 893038	NM_024753.5(TTC21B):c.*1117A>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 893039	NM_024753.5(TTC21B):c.*1107A>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331798	NM_024753.5(TTC21B):c.*1105G>T	TTC21B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 893252	NM_024753.5(TTC21B):c.*1104G>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Asphyxiating thoracic dystrophy 4 +1 more	GUncertain significance
Select item 331799	NM_024753.5(TTC21B):c.*1087A>T	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GLikely benign
Select item 893253	NM_024753.5(TTC21B):c.*974C>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GBenign
Select item 894108	NM_024753.5(TTC21B):c.*926C>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331800	NM_024753.5(TTC21B):c.*910C>T	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331801	NM_024753.5(TTC21B):c.*878A>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 331802	NM_024753.5(TTC21B):c.*847A>C	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GLikely benign
Select item 331803	NM_024753.5(TTC21B):c.*730A>C	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 894502	NM_024753.5(TTC21B):c.*681G>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331804	NM_024753.5(TTC21B):c.*680C>T	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331805	NM_024753.5(TTC21B):c.*656G>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GLikely benign
Select item 331806	NM_024753.5(TTC21B):c.*642C>T	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331807	NM_024753.5(TTC21B):c.*593G>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331808	NM_024753.5(TTC21B):c.*544A>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331809	NM_024753.5(TTC21B):c.*540T>C	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331810	NM_024753.5(TTC21B):c.*531A>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +2 more	GBenign
Select item 331811	NM_024753.5(TTC21B):c.*517G>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +2 more	GBenign
Select item 331812	NM_024753.5(TTC21B):c.*516C>T	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GLikely benign
Select item 331813	NM_024753.5(TTC21B):c.*473C>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331814	NM_024753.5(TTC21B):c.*460T>C	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331815	NM_024753.5(TTC21B):c.*451G>C	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 894136	NM_024753.5(TTC21B):c.*424A>G	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331816	NM_024753.5(TTC21B):c.*419C>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 894540	NM_024753.5(TTC21B):c.*360C>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331817	NM_024753.5(TTC21B):c.*246G>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 331818	NM_024753.5(TTC21B):c.*105G>A	LOC129935046, TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +2 more	GBenign
Select item 471073	NC_000002.12:g.(?_165874735)_(166311776_?)del	LOC102724058, LOC129935046 +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1494030	NM_024753.5(TTC21B):c.3947C>T (p.Pro1316Leu)	TTC21B (P1316L)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 1568934	NM_024753.5(TTC21B):c.3942A>G (p.Leu1314=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 416983	NM_024753.5(TTC21B):c.3939T>C (p.Ser1313=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 1329831	NM_024753.5(TTC21B):c.3936G>A (p.Ala1312=)	TTC21B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2143880	NM_024753.5(TTC21B):c.3935C>T (p.Ala1312Val)	TTC21B (A1312V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1398530	NM_024753.5(TTC21B):c.3932G>T (p.Arg1311Leu)	TTC21B (R1311L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 219735	NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His)	TTC21B (R1311H)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 450312	NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys)	TTC21B (R1311C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +5 more	GUncertain significance
Select item 1314834	NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu)	TTC21B (D1305E)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1358768	NM_024753.5(TTC21B):c.3914A>T (p.Asp1305Val)	TTC21B (D1305V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 331819	NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)	TTC21B (D1305G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1542569	NM_024753.5(TTC21B):c.3912G>A (p.Lys1304=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2142442	NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 1995052	NM_024753.5(TTC21B):c.3906C>T (p.Ile1302=)	TTC21B	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GLikely benign
Select item 3184170	NM_024753.5(TTC21B):c.3901A>G (p.Lys1301Glu)	TTC21B (K1301E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2936133	NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)	TTC21B (T1298A)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 1525867	NM_024753.5(TTC21B):c.3886del (p.His1296fs)	TTC21B (H1296fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 3236364	NM_024753.5(TTC21B):c.3874G>T (p.Val1292Phe)	TTC21B (V1292F)	Single nucleotide variant (missense variant)	Nephronophthisis 12	GUncertain significance
Select item 1622181	NM_024753.5(TTC21B):c.3874-13_3874-10del	TTC21B	Deletion (intron variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 1646454	NM_024753.5(TTC21B):c.3874-13A>G	TTC21B	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GLikely benign
Select item 508884	NM_024753.5(TTC21B):c.3874-14T>C	TTC21B	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 4 +5 more	GConflicting classifications of pathogenicity
Select item 2936774	NM_024753.5(TTC21B):c.3874-16T>A	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2018102	NM_024753.5(TTC21B):c.3874-19T>G	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 1190405	NM_024753.5(TTC21B):c.3874-205C>T	TTC21B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250295	NM_024753.5(TTC21B):c.3874-236_3874-235insTA	TTC21B	Insertion (intron variant)	not provided	GBenign
Select item 1201777	NM_024753.5(TTC21B):c.3874-266T>G	TTC21B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187540	NM_024753.5(TTC21B):c.3874-301T>C	TTC21B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235926	NM_024753.5(TTC21B):c.3873+148C>A	TTC21B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1593467	NM_024753.5(TTC21B):c.3873+20T>C	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2931768	NM_024753.5(TTC21B):c.3873+19A>G	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2947379	NM_024753.5(TTC21B):c.3873+13A>G	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2170129	NM_024753.5(TTC21B):c.3873+11A>C	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 331820	NM_024753.5(TTC21B):c.3873+10T>A	TTC21B	Single nucleotide variant (intron variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 2921302	NM_024753.5(TTC21B):c.3873+8C>T	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 1122908	NM_024753.5(TTC21B):c.3873+7A>T	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2930577	NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)	TTC21B (I1286T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1702507	NM_024753.5(TTC21B):c.3856A>G (p.Ile1286Val)	TTC21B (I1286V)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1571151	NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His)	TTC21B (D1284H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2143238	NM_024753.5(TTC21B):c.3846T>C (p.Tyr1282=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2025146	NM_024753.5(TTC21B):c.3843A>G (p.Arg1281=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 739603	NM_024753.5(TTC21B):c.3828C>T (p.Tyr1276=)	TTC21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563976	NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 1952801	NM_024753.5(TTC21B):c.3809A>G (p.Tyr1270Cys)	TTC21B (Y1270C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1325247	NM_024753.5(TTC21B):c.3806-2A>G	TTC21B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1492326	NM_024753.5(TTC21B):c.3806-3C>T	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1972007	NM_024753.5(TTC21B):c.3806-17G>C	TTC21B	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GLikely benign
Select item 2152768	NM_024753.5(TTC21B):c.3806-18T>C	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1294006	NM_024753.5(TTC21B):c.3806-96C>A	TTC21B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296465	NM_024753.5(TTC21B):c.3806-131C>T	TTC21B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186209	NM_024753.5(TTC21B):c.3806-287T>G	TTC21B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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