ClinVar for PMC (Select 4817720) - ClinVar

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Links from PMC

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953237	NM_024753.5(TTC21B):c.1001del (p.Met334fs)	TTC21B (M334fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2948262	NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)	TTC21B (Q872*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2943835	NM_024753.5(TTC21B):c.1516+1G>A	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 2943490	NM_024753.5(TTC21B):c.913del (p.Ile305fs)	TTC21B (I305fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2943290	NM_024753.5(TTC21B):c.1900-2A>G	TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 2941944	NM_024753.5(TTC21B):c.1900-1G>T	TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 2941868	NM_024753.5(TTC21B):c.459del (p.Thr154fs)	TTC21B, TTC21B-AS1 (T154fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2939590	NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)	TTC21B (Q4*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2935078	NM_024753.5(TTC21B):c.3641_3657del (p.Asp1214fs)	TTC21B (D1214fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2934957	NM_024753.5(TTC21B):c.1088-1G>A	TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2929692	NM_024753.5(TTC21B):c.3533dup (p.Asn1178fs)	TTC21B (N1178fs)	Duplication (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2927757	NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)	TTC21B (Y1234*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2927399	NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs)	TTC21B (T494fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2924752	NM_024753.5(TTC21B):c.2979_2982del (p.Asp994fs)	TTC21B (D994fs)	Microsatellite (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2922514	NM_024753.5(TTC21B):c.2521del (p.Tyr841fs)	TTC21B (Y841fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2426880	NC_000002.11:g.(?_166744769)_(166747518_?)del	TTC21B	Deletion	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2423415	NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs)	TTC21B (K575fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2417145	NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)	TTC21B (Q879*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2417080	NM_024753.5(TTC21B):c.140del (p.Thr47fs)	TTC21B (T47fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2159303	NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)	TTC21B (T483fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2156974	NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)	TTC21B (Y12*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2143959	NM_024753.5(TTC21B):c.1860_1863del (p.Phe620fs)	TTC21B (F620fs)	Microsatellite (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2122758	NM_024753.5(TTC21B):c.2070del (p.Arg691fs)	TTC21B (R691fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2105663	NM_024753.5(TTC21B):c.3592_3596del (p.Lys1198fs)	TTC21B (K1198fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2068220	NM_024753.5(TTC21B):c.3380dup (p.Asn1127fs)	TTC21B (N1127fs)	Duplication (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2053254	NM_024753.5(TTC21B):c.2297_2298del (p.Leu766fs)	TTC21B (L766fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2036986	NM_024753.5(TTC21B):c.2138+1G>T	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 2035876	NM_024753.5(TTC21B):c.1840del (p.Ser614fs)	TTC21B (S614fs)	Deletion (frameshift variant)	Nephronophthisis +1 more	GPathogenic
Select item 2027483	NM_024753.5(TTC21B):c.433del (p.His145fs)	TTC21B, TTC21B-AS1 (H145fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2026911	NM_024753.5(TTC21B):c.244_248del (p.Lys82fs)	TTC21B (K82fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2026752	NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)	TTC21B (Y332*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2014938	NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)	TTC21B (Q388*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 2001013	NM_024753.5(TTC21B):c.3731_3732del (p.Glu1244fs)	TTC21B (E1244fs)	Microsatellite (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1999508	NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)	TTC21B (G363*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1983220	NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)	TTC21B (R1044*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1971343	NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)	TTC21B (E819*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1952802	NM_024753.5(TTC21B):c.3684+1G>A	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 1944012	NC_000002.12:g.165943342del	TTC21B, TTC21B-AS1	Deletion	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1937282	NM_024753.5(TTC21B):c.2461+1G>A	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 1904546	NM_024753.5(TTC21B):c.1126_1127insGT (p.Asp376fs)	TTC21B (D376fs)	Insertion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1904055	NM_024753.5(TTC21B):c.1947_1948del (p.Thr650fs)	TTC21B (T650fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1524950	NC_000002.11:g.(?_166767817)_(166806254_?)dup	TTC21B	Duplication	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 1519295	NM_024753.5(TTC21B):c.711-2A>C	TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 1486005	NM_024753.5(TTC21B):c.895-1G>A	TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 1473506	NM_024753.5(TTC21B):c.1087+1G>A	TTC21B	Single nucleotide variant (splice donor variant)	Asphyxiating thoracic dystrophy 4 +3 more	GLikely pathogenic
Select item 1466544	NM_024753.5(TTC21B):c.152-1G>A	TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 1458764	NM_024753.5(TTC21B):c.1942dup (p.Ser648fs)	TTC21B (S648fs)	Duplication (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1458640	NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter)	TTC21B (Q1026*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1457474	NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter)	TTC21B (R898*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1456585	NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter)	TTC21B (L449*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1453748	NM_024753.5(TTC21B):c.2482dup (p.Met828fs)	TTC21B (M828fs)	Duplication (frameshift variant)	Nephronophthisis +3 more	GPathogenic/Likely pathogenic
Select item 1451840	NM_024753.5(TTC21B):c.3045del (p.Asn1016fs)	TTC21B (N1016fs)	Deletion (frameshift variant)	Nephronophthisis +1 more	GPathogenic
Select item 1451834	NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)	TTC21B (R58*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1436713	NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)	TTC21B (Y525*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1424345	NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs)	TTC21B (L336fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1417573	NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter)	TTC21B (E1038*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1399888	NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter)	TTC21B (R858*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1392901	NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)	TTC21B (Q380*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1379421	NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs)	TTC21B (L423fs)	Duplication (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1372589	NM_024753.5(TTC21B):c.3144del (p.Ala1049fs)	TTC21B (A1049fs)	Deletion (frameshift variant)	Nephronophthisis +1 more	GPathogenic
Select item 1363746	NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)	TTC21B (C459*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1363403	NM_024753.5(TTC21B):c.3044del (p.Arg1015fs)	TTC21B (R1015fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1361272	NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter)	TTC21B (Y779*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 1351437	NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter)	TTC21B (W1055*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1350763	NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter)	TTC21B (Q940*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 1347973	NM_024753.5(TTC21B):c.1516+2T>G	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 1179137	NM_024753.5(TTC21B):c.264_267dupTAGA	TTC21B, TTC21B-AS1	Duplication (splice acceptor variant)	Asphyxiating thoracic dystrophy 4 +3 more	GPathogenic
Select item 1179100	NM_024753.5(TTC21B):c.1386+1G>T	TTC21B	Single nucleotide variant (splice donor variant)	Asphyxiating thoracic dystrophy 4 +3 more	GLikely pathogenic
Select item 1179039	NM_024753.5(TTC21B):c.3102-2A>G	TTC21B	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 4 +3 more	GLikely pathogenic
Select item 1070283	NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)	TTC21B (Q516*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1054402	NC_000002.11:g.(?_165946660)_(167168266_?)del	GALNT3, SCN1A +5 more	Deletion	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 996789	NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter)	TTC21B (E737*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 951910	NM_024753.5(TTC21B):c.2868+1G>T	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 641840	NM_024753.5(TTC21B):c.3263+1G>A	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +1 more	GLikely pathogenic
Select item 591254	NM_024753.5(TTC21B):c.2913dup (p.Val972fs)	TTC21B (V972fs)	Duplication (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 546034	NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)	TTC21B (S572*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 545537	NM_024753.5(TTC21B):c.152-2A>G	TTC21B	Single nucleotide variant (splice acceptor variant)	Nephronophthisis +1 more	GLikely pathogenic
Select item 528907	NM_024753.5(TTC21B):c.2869-2A>G	TTC21B	Single nucleotide variant (splice acceptor variant)	Nephronophthisis +1 more	GLikely pathogenic
Select item 528906	NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs)	TTC21B (Y1128fs)	Deletion (frameshift variant)	Nephronophthisis +1 more	GPathogenic
Select item 446650	NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	TTC21B (F440fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 446649	NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)	TTC21B (Q834*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 423908	NM_024753.5(TTC21B):c.553-2A>G	TTC21B-AS1, TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +2 more	GLikely pathogenic
Select item 216125	NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter)	TTC21B, TTC21B-AS1 (W228*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 30938	NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)	TTC21B (R411*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +2 more	GPathogenic
Select item 30937	NM_024753.5(TTC21B):c.2758-2A>G	TTC21B	Single nucleotide variant (splice acceptor variant)	Infantile nephronophthisis +4 more	GPathogenic/Likely pathogenic

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Items: 85