ClinVar for MedGen (Select 462535) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498130	NM_024753.5(TTC21B):c.[2569G>A;3130_3131dup]	TTC21B (A857T +1 more)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 4	GLikely pathogenic
Select item 2498129	NM_024753.5(TTC21B):c.3130_3131dup (p.His1045fs)	TTC21B (H1045fs)	Duplication (frameshift variant)	Asphyxiating thoracic dystrophy 4	GLikely pathogenic
Select item 1655829	NM_024753.5(TTC21B):c.894+13A>G	TTC21B	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 4 +3 more	GLikely benign
Select item 1650150	NM_024753.5(TTC21B):c.2937A>G (p.Leu979=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 1641131	NM_024753.5(TTC21B):c.2568+17G>T	TTC21B	Single nucleotide variant (intron variant)	Nephronophthisis 12 +3 more	GLikely benign
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 1593232	NM_024753.5(TTC21B):c.1875C>T (p.Asp625=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 1577342	NM_024753.5(TTC21B):c.1743C>T (p.Asp581=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 1565226	NM_024753.5(TTC21B):c.553-13del	TTC21B, TTC21B-AS1	Deletion (intron variant)	Asphyxiating thoracic dystrophy 4 +3 more	GBenign/Likely benign
Select item 1563976	NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=)	TTC21B	Single nucleotide variant (synonymous variant)	TTC21B-related condition +4 more	GLikely benign
Select item 1537195	NM_024753.5(TTC21B):c.2868+9A>G	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 1531485	NM_024753.5(TTC21B):c.2580A>G (p.Leu860=)	TTC21B	Single nucleotide variant (synonymous variant)	TTC21B-related condition +4 more	GLikely benign
Select item 1529772	NM_024753.5(TTC21B):c.2951-4C>T	TTC21B	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 1524954	NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys)	TTC21B (R1225C)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1520604	NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser)	TTC21B (L992S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1505607	NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln)	TTC21B (R1050Q)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 1500150	NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys)	TTC21B, TTC21B-AS1 (R103C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1496428	NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn)	TTC21B (Y900N)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1495803	NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu)	TTC21B (S3L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1489444	NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser)	TTC21B (A600S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 1482771	NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His)	TTC21B (R1182H)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 1481180	NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu)	TTC21B (M962L)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
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 1472676	NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp)	TTC21B (R1263W)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +5 more	GUncertain significance
Select item 1468232	NM_024753.5(TTC21B):c.437T>G (p.Val146Gly)	TTC21B, TTC21B-AS1 (V146G)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +4 more	GUncertain significance
Select item 1467229	NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys)	TTC21B (Y562C)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1453748	NM_024753.5(TTC21B):c.2482dup (p.Met828fs)	TTC21B (M828fs)	Duplication (frameshift variant)	Jeune thoracic dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1443016	NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg)	TTC21B, TTC21B-AS1 (Q192R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +4 more	GUncertain significance
Select item 1440546	NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val)	TTC21B (A1159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1438089	NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu)	TTC21B (F288L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 1437959	NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)	TTC21B (V1139I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1436109	NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr)	TTC21B (I1206T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 1434880	NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)	TTC21B (S324A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1429054	NM_024753.5(TTC21B):c.361A>G (p.Ile121Val)	TTC21B, TTC21B-AS1 (I121V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1427192	NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu)	TTC21B (I1064L)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance
Select item 1422957	NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala)	TTC21B (T710A)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +4 more	GUncertain significance
Select item 1419585	NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile)	TTC21B (S1261I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1418870	NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile)	TTC21B (V626I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1418750	NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe)	TTC21B (C1223F)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance
Select item 1417032	NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)	TTC21B (R1044Q)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1407075	NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)	TTC21B (A1211T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GConflicting classifications of pathogenicity
Select item 1405144	NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp)	TTC21B (C477W)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 1404778	NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr)	TTC21B (I1191T)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 1400722	NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys)	TTC21B (F687C)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1399485	NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val)	TTC21B (A1184V)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1392930	NM_024753.5(TTC21B):c.1357A>G (p.Met453Val)	TTC21B (M453V)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 1387210	NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg)	TTC21B (P722R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 1384856	NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)	TTC21B (D424E)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1380329	NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr)	TTC21B (I305T)	Single nucleotide variant (missense variant)	TTC21B-related condition +4 more	GUncertain significance
Select item 1371760	NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile)	TTC21B (L726I)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance
Select item 1370440	NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val)	TTC21B (L537V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1363746	NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)	TTC21B (C459*)	Single nucleotide variant (nonsense)	Nephronophthisis +3 more	GPathogenic/Likely pathogenic
Select item 1363116	NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys)	TTC21B (E871K)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1357144	NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)	TTC21B (F41L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1357087	NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln)	TTC21B (R1175Q)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1354889	NM_024753.5(TTC21B):c.2866A>G (p.Met956Val)	TTC21B (M956V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1354573	NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg)	TTC21B (G786R)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GConflicting classifications of pathogenicity
Select item 1354022	NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser)	TTC21B (L989S)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1353360	NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His)	TTC21B (Y525H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GUncertain significance
Select item 1344652	NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)	TTC21B (W346*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 4 +1 more	GPathogenic
Select item 1344651	NM_024753.5(TTC21B):c.986A>T (p.Glu329Val)	TTC21B (E329V)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance
Select item 1315142	NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp)	TTC21B (R655W)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GUncertain significance
Select item 1314834	NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu)	TTC21B (D1305E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1314569	NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val)	TTC21B (A850V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1305887	NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys)	TTC21B (R981C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1305150	NM_024753.5(TTC21B):c.1185+5A>G	TTC21B	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 4 +2 more	GUncertain significance
Select item 1259668	NM_024753.5(TTC21B):c.430-42C>T	TTC21B, TTC21B-AS1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 4 +1 more	GBenign
Select item 1254517	NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)	TTC21B (R58Q)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +4 more	GConflicting classifications of pathogenicity
Select item 1224481	NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)	TTC21B (R991H)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 1179185	NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter)	TTC21B (Q1114*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 4 +1 more	GLikely pathogenic
Select item 1179137	NM_024753.5(TTC21B):c.264_267dupTAGA	TTC21B, TTC21B-AS1	Duplication (splice acceptor variant)	Jeune thoracic dystrophy +3 more	GPathogenic
Select item 1179100	NM_024753.5(TTC21B):c.1386+1G>T	TTC21B	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +3 more	GLikely pathogenic
Select item 1179040	NM_024753.5(TTC21B):c.3087del (p.Gly1030fs)	TTC21B (G1030fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 4 +1 more	GPathogenic
Select item 1179039	NM_024753.5(TTC21B):c.3102-2A>G	TTC21B	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy +3 more	GLikely pathogenic
Select item 1139270	NM_024753.5(TTC21B):c.2272T>C (p.Leu758=)	TTC21B	Single nucleotide variant (synonymous variant)	Nephronophthisis 12 +3 more	GLikely benign
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 1063023	NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)	TTC21B (R628H)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +4 more	GConflicting classifications of pathogenicity
Select item 1050864	NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln)	TTC21B (R1263Q)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1040344	NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro)	TTC21B (A510P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +4 more	GUncertain significance
Select item 1029924	NM_024753.5(TTC21B):c.368G>A (p.Arg123His)	TTC21B-AS1, TTC21B (R123H)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance
Select item 1029923	NM_024753.5(TTC21B):c.3460-3T>C	TTC21B	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 4 +4 more	GUncertain significance
Select item 1020713	NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val)	TTC21B (E780V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1011088	NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)	TTC21B (Y793C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1002519	NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg)	TTC21B (Q869R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GUncertain significance
Select item 1000891	NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe)	TTC21B (C937F)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 999934	NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala)	TTC21B (E59A)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 999353	NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys)	TTC21B (W804C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 967609	NM_024753.5(TTC21B):c.572G>A (p.Arg191His)	TTC21B, TTC21B-AS1 (R191H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 943696	NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys)	TTC21B (Y289C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GUncertain significance
Select item 942551	NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)	TTC21B (I305V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 937309	NM_024753.5(TTC21B):c.234A>G (p.Ile78Met)	TTC21B (I78M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 894675	NM_024753.5(TTC21B):c.256A>C (p.Asn86His)	TTC21B (N86H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 894674	NM_024753.5(TTC21B):c.338A>G (p.His113Arg)	TTC21B, TTC21B-AS1 (H113R)	Single nucleotide variant (missense variant)	TTC21B-related condition +4 more	GConflicting classifications of pathogenicity
Select item 894652	NM_024753.5(TTC21B):c.1116G>T (p.Gly372=)	TTC21B	Single nucleotide variant (synonymous variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 894651	NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe)	TTC21B (S394F)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 894628	NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)	TTC21B (D561G)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 894575	NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys)	TTC21B (Y968C)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance
Select item 894574	NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val)	TTC21B (L995V)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +1 more	GUncertain significance
Select item 894573	NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)	TTC21B (K1001N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GConflicting classifications of pathogenicity
Select item 894540	NM_024753.5(TTC21B):c.*360C>A	TTC21B	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 12 +1 more	GUncertain significance

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