| 151356378 | CV1329142 | single nucleotide variant | NM_138386.3(NAF1):c.*10C>T | not specified [RCV001822731] | uncertain significance | 4 | 163128887 | 163128887 | Human | | name |
| 151353869 | CV1327421 | single nucleotide variant | NM_138386.3(NAF1):c.878+7A>G | not provided [RCV002541990]|not specified [RCV001817365] | likely benign|uncertain significance | 4 | 163140216 | 163140216 | Human | | name |
| 151354121 | CV1327673 | single nucleotide variant | NM_138386.3(NAF1):c.879-7C>G | not provided [RCV002542009]|not specified [RCV001817617] | benign|likely benign | 4 | 163137257 | 163137257 | Human | | name |
| 156044014 | CV1688357 | single nucleotide variant | NM_138386.3(NAF1):c.634+1G>T | Pulmonary fibrosis [RCV002509799] | likely risk allele | 4 | 163148340 | 163148340 | Human | 2 | name |
| 156373500 | CV1874869 | single nucleotide variant | NM_138386.3(NAF1):c.365+9C>T | not provided [RCV003066501] | likely benign | 4 | 163166354 | 163166354 | Human | | name |
| 156148343 | CV1964046 | single nucleotide variant | NM_138386.3(NAF1):c.366-6C>T | not provided [RCV002572816] | likely benign | 4 | 163164397 | 163164397 | Human | | name |
| 405213356 | CV2918344 | single nucleotide variant | NM_138386.3(NAF1):c.718-2A>G | not provided [RCV003567445] | uncertain significance | 4 | 163140385 | 163140385 | Human | | name |
| 405112127 | CV2938830 | single nucleotide variant | NM_138386.3(NAF1):c.635-8T>C | not provided [RCV003666402] | likely benign | 4 | 163145872 | 163145872 | Human | | name |
| 597830358 | CV3735373 | single nucleotide variant | NM_138386.3(NAF1):c.718-7A>G | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV005055290] | uncertain significance | 4 | 163140390 | 163140390 | Human | 1 | name |
| 151354400 | CV1329533 | single nucleotide variant | NM_138386.3(NAF1):c.1033+1G>T | not provided [RCV001817896] | likely pathogenic | 4 | 163133153 | 163133153 | Human | | name |
| 156382959 | CV1961000 | single nucleotide variant | NM_138386.3(NAF1):c.540+18T>C | not provided [RCV002583300] | likely benign | 4 | 163164199 | 163164199 | Human | | name |
| 156138281 | CV1963028 | single nucleotide variant | NM_138386.3(NAF1):c.365+20C>T | not provided [RCV002572476] | likely benign | 4 | 163166343 | 163166343 | Human | | name |
| 243049517 | CV2416904 | single nucleotide variant | NM_138386.3(NAF1):c.1033+1G>A | not provided [RCV003151576] | likely pathogenic | 4 | 163133153 | 163133153 | Human | | name |
| 405117325 | CV3115910 | single nucleotide variant | NM_138386.3(NAF1):c.878+14C>T | not provided [RCV003814400] | likely benign | 4 | 163140209 | 163140209 | Human | | name |
| 405161757 | CV3125067 | single nucleotide variant | NM_138386.3(NAF1):c.878+11T>C | not provided [RCV003818338] | likely benign | 4 | 163140212 | 163140212 | Human | | name |
| 405137896 | CV3125411 | single nucleotide variant | NM_138386.3(NAF1):c.635-14A>G | not provided [RCV003816518] | likely benign | 4 | 163145878 | 163145878 | Human | | name |
| 402470444 | CV3171148 | single nucleotide variant | NM_138386.3(NAF1):c.365+10C>T | not provided [RCV003874111] | likely benign | 4 | 163166353 | 163166353 | Human | | name |
| 597947634 | CV3759023 | single nucleotide variant | NM_138386.3(NAF1):c.718-19C>G | not provided [RCV005078819] | likely benign | 4 | 163140402 | 163140402 | Human | | name |
| 597908670 | CV3806372 | single nucleotide variant | NM_138386.3(NAF1):c.879-18C>T | not provided [RCV005153939] | likely benign | 4 | 163137268 | 163137268 | Human | | name |
| 597921749 | CV3808085 | single nucleotide variant | NM_138386.3(NAF1):c.879-20C>T | not provided [RCV005155793] | likely benign | 4 | 163137270 | 163137270 | Human | | name |
| 597919260 | CV3811625 | single nucleotide variant | NM_138386.3(NAF1):c.931-17A>G | not provided [RCV005155456] | likely benign | 4 | 163133273 | 163133273 | Human | | name |
| 405249176 | CV2983568 | single nucleotide variant | NM_138386.3(NAF1):c.1033+18A>G | not provided [RCV003686130] | likely benign | 4 | 163133136 | 163133136 | Human | | name |
| 597903803 | CV3856247 | microsatellite | NM_138386.3(NAF1):c.541-24GTTTT[2] | not provided [RCV005202475] | likely benign | 4 | 163148444 | 163148448 | Human | | name |
| 597835935 | CV3828326 | deletion | NM_138386.3(NAF1):c.878+9_878+13del | not provided [RCV005171218] | likely benign | 4 | 163140210 | 163140214 | Human | | name |
| 151353872 | CV1327424 | single nucleotide variant | NM_138386.3(NAF1):c.36A>G (p.Glu12=) | not provided [RCV003772293]|not specified [RCV001817368] | likely benign|uncertain significance | 4 | 163166692 | 163166692 | Human | | name |
| 156279692 | CV2054866 | single nucleotide variant | NM_138386.3(NAF1):c.96G>C (p.Pro32=) | not provided [RCV002832796] | likely benign | 4 | 163166632 | 163166632 | Human | | name |
| 156317637 | CV2204023 | single nucleotide variant | NM_138386.3(NAF1):c.7G>A (p.Val3Ile) | not provided [RCV005059193]|not specified [RCV004070061] | uncertain significance | 4 | 163166721 | 163166721 | Human | | name |
| 405191792 | CV3070014 | single nucleotide variant | NM_138386.3(NAF1):c.57C>A (p.Thr19=) | not provided [RCV003729790] | likely benign | 4 | 163166671 | 163166671 | Human | | name |
| 597872539 | CV3805344 | single nucleotide variant | NM_138386.3(NAF1):c.57C>T (p.Thr19=) | not provided [RCV005148622] | likely benign | 4 | 163166671 | 163166671 | Human | | name |
| 597920926 | CV3808004 | single nucleotide variant | NM_138386.3(NAF1):c.87T>C (p.Ala29=) | not provided [RCV005155712] | likely benign | 4 | 163166641 | 163166641 | Human | | name |
| 151354807 | CV1327874 | single nucleotide variant | NM_138386.3(NAF1):c.264A>G (p.Glu88=) | not specified [RCV001819349] | uncertain significance | 4 | 163166464 | 163166464 | Human | | name |
| 152102937 | CV1667351 | single nucleotide variant | NM_138386.3(NAF1):c.234C>G (p.Thr78=) | not provided [RCV002214338] | benign|likely benign | 4 | 163166494 | 163166494 | Human | | name |
| 155911799 | CV1980228 | single nucleotide variant | NM_138386.3(NAF1):c.273C>T (p.Ala91=) | not provided [RCV002614049] | likely benign | 4 | 163166455 | 163166455 | Human | | name |
| 156319204 | CV2071256 | single nucleotide variant | NM_138386.3(NAF1):c.23C>T (p.Ala8Val) | not provided [RCV002834587] | uncertain significance | 4 | 163166705 | 163166705 | Human | | name |
| 155922089 | CV2102464 | single nucleotide variant | NM_138386.3(NAF1):c.22G>A (p.Ala8Thr) | not provided [RCV002903402] | likely benign | 4 | 163166706 | 163166706 | Human | | name |
| 156132316 | CV2113079 | single nucleotide variant | NM_138386.3(NAF1):c.156C>T (p.Asp52=) | not provided [RCV002928248] | likely benign | 4 | 163166572 | 163166572 | Human | | name |
| 405235077 | CV3071300 | single nucleotide variant | NM_138386.3(NAF1):c.243G>A (p.Pro81=) | not provided [RCV003735741] | likely benign | 4 | 163166485 | 163166485 | Human | | name |
| 402519608 | CV3126789 | single nucleotide variant | NM_138386.3(NAF1):c.126G>A (p.Pro42=) | not provided [RCV003824707] | likely benign | 4 | 163166602 | 163166602 | Human | | name |
| 405259069 | CV3194492 | single nucleotide variant | NM_138386.3(NAF1):c.199C>T (p.Leu67=) | NAF1-related disorder [RCV003893889] | likely benign | 4 | 163166529 | 163166529 | Human | | name , trait , alternate_id |
| 405259105 | CV3194525 | single nucleotide variant | NM_138386.3(NAF1):c.261T>G (p.Ala87=) | NAF1-related disorder [RCV003893922] | likely benign | 4 | 163166467 | 163166467 | Human | | name , trait , alternate_id |
| 405268668 | CV3198979 | single nucleotide variant | NM_138386.3(NAF1):c.291C>T (p.Thr97=) | NAF1-related disorder [RCV003912091] | likely benign | 4 | 163166437 | 163166437 | Human | | name , trait , alternate_id |
| 597916094 | CV3737345 | single nucleotide variant | NM_138386.3(NAF1):c.258G>T (p.Pro86=) | not provided [RCV005074134] | likely benign | 4 | 163166470 | 163166470 | Human | | name |
| 597959350 | CV3752282 | single nucleotide variant | NM_138386.3(NAF1):c.234C>T (p.Thr78=) | not provided [RCV005081232] | likely benign | 4 | 163166494 | 163166494 | Human | | name |
| 597956519 | CV3792438 | single nucleotide variant | NM_138386.3(NAF1):c.237G>A (p.Pro79=) | not provided [RCV005137325] | likely benign | 4 | 163166491 | 163166491 | Human | | name |
| 597854392 | CV3821665 | single nucleotide variant | NM_138386.3(NAF1):c.219C>T (p.Ala73=) | not provided [RCV005174143] | likely benign | 4 | 163166509 | 163166509 | Human | | name |
| 151355908 | CV1327091 | single nucleotide variant | NM_138386.3(NAF1):c.83C>T (p.Ala28Val) | not provided [RCV002541962]|not specified [RCV001822261] | benign | 4 | 163166645 | 163166645 | Human | | name |
| 151356223 | CV1328987 | single nucleotide variant | NM_138386.3(NAF1):c.405T>C (p.Ser135=) | not specified [RCV001822576] | uncertain significance | 4 | 163164352 | 163164352 | Human | | name |
| 155979450 | CV1882938 | single nucleotide variant | NM_138386.3(NAF1):c.79C>A (p.Pro27Thr) | not provided [RCV003075579]|not specified [RCV004071819] | uncertain significance | 4 | 163166649 | 163166649 | Human | | name |
| 156331939 | CV1884514 | single nucleotide variant | NM_138386.3(NAF1):c.426T>G (p.Ser142=) | not provided [RCV003089851] | likely benign | 4 | 163164331 | 163164331 | Human | | name |
| 156444613 | CV1948343 | single nucleotide variant | NM_138386.3(NAF1):c.513T>G (p.Leu171=) | not provided [RCV003115538] | likely benign | 4 | 163164244 | 163164244 | Human | | name |
| 156223171 | CV1960372 | single nucleotide variant | NM_138386.3(NAF1):c.64G>C (p.Gly22Arg) | not provided [RCV002575605] | uncertain significance | 4 | 163166664 | 163166664 | Human | | name |
| 156400261 | CV1981742 | single nucleotide variant | NM_138386.3(NAF1):c.58G>C (p.Asp20His) | not provided [RCV002605533] | uncertain significance | 4 | 163166670 | 163166670 | Human | | name |
| 156223550 | CV2009306 | single nucleotide variant | NM_138386.3(NAF1):c.459G>C (p.Leu153=) | not provided [RCV002701097] | likely benign | 4 | 163164298 | 163164298 | Human | | name |
| 156394376 | CV2015680 | single nucleotide variant | NM_138386.3(NAF1):c.35A>G (p.Glu12Gly) | not provided [RCV002725386] | uncertain significance | 4 | 163166693 | 163166693 | Human | | name |
| 155916985 | CV2031879 | single nucleotide variant | NM_138386.3(NAF1):c.735A>G (p.Gly245=) | not provided [RCV002727183] | likely benign | 4 | 163140366 | 163140366 | Human | | name |
| 156033905 | CV2097619 | single nucleotide variant | NM_138386.3(NAF1):c.576G>A (p.Leu192=) | not provided [RCV002885522] | likely benign | 4 | 163148399 | 163148399 | Human | | name |
| 156309924 | CV2111227 | single nucleotide variant | NM_138386.3(NAF1):c.303C>T (p.Ala101=) | not provided [RCV002937105] | benign | 4 | 163166425 | 163166425 | Human | | name |
| 156228306 | CV2146121 | single nucleotide variant | NM_138386.3(NAF1):c.930G>A (p.Glu310=) | not provided [RCV003025546] | uncertain significance | 4 | 163137199 | 163137199 | Human | | name |
| 155903487 | CV2274888 | single nucleotide variant | NM_138386.3(NAF1):c.35A>C (p.Glu12Ala) | not provided [RCV003708705]|not specified [RCV004133075] | uncertain significance | 4 | 163166693 | 163166693 | Human | | name |
| 401901681 | CV2797997 | single nucleotide variant | NM_138386.3(NAF1):c.49A>T (p.Asn17Tyr) | NAF1-related disorder [RCV003393114] | uncertain significance | 4 | 163166679 | 163166679 | Human | | name , trait , alternate_id |
| 405197005 | CV2869757 | single nucleotide variant | NM_138386.3(NAF1):c.50A>G (p.Asn17Ser) | not provided [RCV003550948]|not specified [RCV004827973] | uncertain significance | 4 | 163166678 | 163166678 | Human | | name |
| 405217771 | CV2872625 | single nucleotide variant | NM_138386.3(NAF1):c.574C>T (p.Leu192=) | NAF1-related disorder [RCV003939080]|not provided [RCV003553350] | likely benign | 4 | 163148401 | 163148401 | Human | 1 | name , trait , alternate_id |
| 402498015 | CV2875434 | single nucleotide variant | NM_138386.3(NAF1):c.86C>T (p.Ala29Val) | not provided [RCV003545520] | uncertain significance | 4 | 163166642 | 163166642 | Human | | name |
| 405222961 | CV2890975 | single nucleotide variant | NM_138386.3(NAF1):c.52G>A (p.Gly18Ser) | not provided [RCV003554115] | uncertain significance | 4 | 163166676 | 163166676 | Human | | name |
| 402475853 | CV2916826 | single nucleotide variant | NM_138386.3(NAF1):c.744A>G (p.Ala248=) | not provided [RCV003571411] | likely benign | 4 | 163140357 | 163140357 | Human | | name |
| 405147963 | CV2960062 | single nucleotide variant | NM_138386.3(NAF1):c.82G>A (p.Ala28Thr) | not provided [RCV003669786] | uncertain significance | 4 | 163166646 | 163166646 | Human | | name |
| 405232025 | CV2974668 | single nucleotide variant | NM_138386.3(NAF1):c.324G>A (p.Pro108=) | not provided [RCV003682419] | likely benign | 4 | 163166404 | 163166404 | Human | | name |
| 405224527 | CV3058140 | single nucleotide variant | NM_138386.3(NAF1):c.723C>T (p.Phe241=) | not provided [RCV003733816] | likely benign | 4 | 163140378 | 163140378 | Human | | name |
| 405205913 | CV3126690 | single nucleotide variant | NM_138386.3(NAF1):c.579T>G (p.Pro193=) | not provided [RCV003822624] | likely benign | 4 | 163148396 | 163148396 | Human | | name |
| 405170161 | CV3149983 | single nucleotide variant | NM_138386.3(NAF1):c.705A>G (p.Gln235=) | not provided [RCV003841454] | likely benign | 4 | 163145794 | 163145794 | Human | | name |
| 405261286 | CV3221339 | single nucleotide variant | NM_138386.3(NAF1):c.750A>G (p.Pro250=) | NAF1-related disorder [RCV003966849] | likely benign | 4 | 163140351 | 163140351 | Human | | name , trait , alternate_id |
| 407487755 | CV3447884 | single nucleotide variant | NM_138386.3(NAF1):c.98G>T (p.Gly33Val) | not specified [RCV004641157] | uncertain significance | 4 | 163166630 | 163166630 | Human | | name |
| 408366123 | CV3514853 | single nucleotide variant | NM_138386.3(NAF1):c.597G>A (p.Lys199=) | NAF1-related disorder [RCV004755555] | likely benign | 4 | 163148378 | 163148378 | Human | | name , trait , alternate_id |
| 597901398 | CV3741351 | single nucleotide variant | NM_138386.3(NAF1):c.80C>T (p.Pro27Leu) | not provided [RCV005072322] | uncertain significance | 4 | 163166648 | 163166648 | Human | | name |
| 597886939 | CV3741872 | single nucleotide variant | NM_138386.3(NAF1):c.867A>G (p.Glu289=) | not provided [RCV005070592] | likely benign | 4 | 163140234 | 163140234 | Human | | name |
| 597862439 | CV3745099 | single nucleotide variant | NM_138386.3(NAF1):c.70G>T (p.Gly24Trp) | not provided [RCV005067455] | uncertain significance | 4 | 163166658 | 163166658 | Human | | name |
| 597961695 | CV3756684 | single nucleotide variant | NM_138386.3(NAF1):c.92C>T (p.Ser31Phe) | not provided [RCV005081806] | uncertain significance | 4 | 163166636 | 163166636 | Human | | name |
| 597897390 | CV3773909 | single nucleotide variant | NM_138386.3(NAF1):c.28C>A (p.Gln10Lys) | not provided [RCV005111630] | uncertain significance | 4 | 163166700 | 163166700 | Human | | name |
| 597836336 | CV3828413 | single nucleotide variant | NM_138386.3(NAF1):c.351T>C (p.Asp117=) | not provided [RCV005171305] | likely benign | 4 | 163166377 | 163166377 | Human | | name |
| 151355839 | CV1327023 | single nucleotide variant | NM_138386.3(NAF1):c.266C>T (p.Ser89Leu) | NAF1-related disorder [RCV003931352]|not provided [RCV002541953]|not specified [RCV001822192] | benign|likely benign | 4 | 163166462 | 163166462 | Human | 1 | name , trait , alternate_id |
| 151354100 | CV1327652 | single nucleotide variant | NM_138386.3(NAF1):c.241C>G (p.Pro81Ala) | not specified [RCV001817596] | uncertain significance | 4 | 163166487 | 163166487 | Human | | name |
| 151355986 | CV1328750 | single nucleotide variant | NM_138386.3(NAF1):c.295C>A (p.Pro99Thr) | not specified [RCV001822339] | uncertain significance | 4 | 163166433 | 163166433 | Human | | name |
| 156416505 | CV1901359 | single nucleotide variant | NM_138386.3(NAF1):c.280G>A (p.Asp94Asn) | not provided [RCV002610210]|not specified [RCV005377292] | uncertain significance | 4 | 163166448 | 163166448 | Human | | name |
| 156263279 | CV1902831 | single nucleotide variant | NM_138386.3(NAF1):c.1233T>A (p.Ser411=) | not provided [RCV003086519] | likely benign | 4 | 163129149 | 163129149 | Human | | name |
| 156205304 | CV1913130 | single nucleotide variant | NM_138386.3(NAF1):c.269C>T (p.Pro90Leu) | not provided [RCV002595860]|not specified [RCV005377301] | uncertain significance | 4 | 163166459 | 163166459 | Human | | name |
| 156053482 | CV1947650 | single nucleotide variant | NM_138386.3(NAF1):c.265T>A (p.Ser89Thr) | not provided [RCV003108216]|not specified [RCV004216241] | likely benign|uncertain significance | 4 | 163166463 | 163166463 | Human | | name |
| 155981660 | CV1972462 | single nucleotide variant | NM_138386.3(NAF1):c.1356T>A (p.Ala452=) | not provided [RCV002617629] | likely benign | 4 | 163129026 | 163129026 | Human | | name |
| 156232525 | CV2085379 | single nucleotide variant | NM_138386.3(NAF1):c.248C>T (p.Pro83Leu) | not provided [RCV002876291] | uncertain significance | 4 | 163166480 | 163166480 | Human | | name |
| 156253012 | CV2098126 | single nucleotide variant | NM_138386.3(NAF1):c.127C>T (p.Pro43Ser) | not provided [RCV002895326] | benign | 4 | 163166601 | 163166601 | Human | | name |
| 156149362 | CV2154342 | single nucleotide variant | NM_138386.3(NAF1):c.167C>T (p.Thr56Ile) | not provided [RCV003022798] | uncertain significance | 4 | 163166561 | 163166561 | Human | | name |
| 156359607 | CV2257821 | single nucleotide variant | NM_138386.3(NAF1):c.152C>T (p.Pro51Leu) | not specified [RCV004127874] | uncertain significance | 4 | 163166576 | 163166576 | Human | | name |
| 155981985 | CV2272917 | single nucleotide variant | NM_138386.3(NAF1):c.220G>C (p.Val74Leu) | not specified [RCV004135809] | uncertain significance | 4 | 163166508 | 163166508 | Human | | name |
| 156150213 | CV2394634 | single nucleotide variant | NM_138386.3(NAF1):c.257C>T (p.Pro86Leu) | not specified [RCV004240974] | uncertain significance | 4 | 163166471 | 163166471 | Human | | name |
| 329392759 | CV2439164 | single nucleotide variant | NM_138386.3(NAF1):c.208G>C (p.Val70Leu) | not provided [RCV003730458]|not specified [RCV004266442] | uncertain significance | 4 | 163166520 | 163166520 | Human | | name |
| 329847930 | CV2524650 | duplication | NM_138386.3(NAF1):c.984dup (p.Ser329fs) | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV003227582] | pathogenic | 4 | 163133202 | 163133203 | Human | 1 | name |
| 405215132 | CV2875904 | single nucleotide variant | NM_138386.3(NAF1):c.274T>C (p.Cys92Arg) | not provided [RCV003553041]|not specified [RCV004636762] | uncertain significance | 4 | 163166454 | 163166454 | Human | | name |
| 402487487 | CV2941443 | single nucleotide variant | NM_138386.3(NAF1):c.1314T>G (p.Pro438=) | not provided [RCV003660220] | likely benign | 4 | 163129068 | 163129068 | Human | | name |
| 405088071 | CV3044498 | single nucleotide variant | NM_138386.3(NAF1):c.260C>T (p.Ala87Val) | not provided [RCV003717617]|not specified [RCV004827988] | uncertain significance | 4 | 163166468 | 163166468 | Human | | name |
| 405253570 | CV3048239 | single nucleotide variant | NM_138386.3(NAF1):c.1419C>T (p.Pro473=) | not provided [RCV003722592] | likely benign | 4 | 163128963 | 163128963 | Human | | name |
| 405218354 | CV3048946 | single nucleotide variant | NM_138386.3(NAF1):c.1320C>G (p.Pro440=) | not provided [RCV003732890] | likely benign | 4 | 163129062 | 163129062 | Human | | name |
| 405181568 | CV3057350 | single nucleotide variant | NM_138386.3(NAF1):c.1089G>A (p.Glu363=) | not provided [RCV003728831] | likely benign | 4 | 163129293 | 163129293 | Human | | name |
| 405205324 | CV3116974 | single nucleotide variant | NM_138386.3(NAF1):c.1434T>C (p.Pro478=) | not provided [RCV003822458] | likely benign | 4 | 163128948 | 163128948 | Human | | name |
| 405166937 | CV3125716 | single nucleotide variant | NM_138386.3(NAF1):c.184G>T (p.Ala62Ser) | not provided [RCV003818799] | uncertain significance | 4 | 163166544 | 163166544 | Human | | name |
| 405069379 | CV3140216 | single nucleotide variant | NM_138386.3(NAF1):c.197C>T (p.Pro66Leu) | not provided [RCV003833371] | uncertain significance | 4 | 163166531 | 163166531 | Human | | name |
| 405197156 | CV3146707 | single nucleotide variant | NM_138386.3(NAF1):c.172G>A (p.Glu58Lys) | not provided [RCV003844062] | uncertain significance | 4 | 163166556 | 163166556 | Human | | name |
| 405200215 | CV3147195 | single nucleotide variant | NM_138386.3(NAF1):c.232A>C (p.Thr78Pro) | not provided [RCV003844355] | uncertain significance | 4 | 163166496 | 163166496 | Human | | name |
| 405044572 | CV3150319 | single nucleotide variant | NM_138386.3(NAF1):c.295C>T (p.Pro99Ser) | not provided [RCV003849113] | uncertain significance | 4 | 163166433 | 163166433 | Human | | name |
| 405230370 | CV3153868 | single nucleotide variant | NM_138386.3(NAF1):c.1476T>C (p.Pro492=) | not provided [RCV003848736] | likely benign | 4 | 163128906 | 163128906 | Human | | name |
| 405258944 | CV3194197 | single nucleotide variant | NM_138386.3(NAF1):c.1335A>G (p.Pro445=) | NAF1-related disorder [RCV003893778] | likely benign | 4 | 163129047 | 163129047 | Human | | name , trait , alternate_id |
| 405745730 | CV3331445 | single nucleotide variant | NM_138386.3(NAF1):c.155A>G (p.Asp52Gly) | not specified [RCV004466356] | uncertain significance | 4 | 163166573 | 163166573 | Human | | name |
| 407487746 | CV3447882 | single nucleotide variant | NM_138386.3(NAF1):c.236C>T (p.Pro79Leu) | not specified [RCV004641155] | uncertain significance | 4 | 163166492 | 163166492 | Human | | name |
| 407487751 | CV3447883 | single nucleotide variant | NM_138386.3(NAF1):c.266C>G (p.Ser89Trp) | not specified [RCV004641156] | uncertain significance | 4 | 163166462 | 163166462 | Human | | name |
| 596922012 | CV3535641 | single nucleotide variant | NM_138386.3(NAF1):c.227C>G (p.Ala76Gly) | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV004785196] | uncertain significance | 4 | 163166501 | 163166501 | Human | 1 | name |
| 597839740 | CV3737067 | single nucleotide variant | NM_138386.3(NAF1):c.1434T>G (p.Pro478=) | not provided [RCV005064547] | likely benign | 4 | 163128948 | 163128948 | Human | | name |
| 597926672 | CV3748931 | single nucleotide variant | NM_138386.3(NAF1):c.1095A>G (p.Ala365=) | not provided [RCV005075387] | likely benign | 4 | 163129287 | 163129287 | Human | | name |
| 597840969 | CV3752719 | single nucleotide variant | NM_138386.3(NAF1):c.235C>G (p.Pro79Ala) | not provided [RCV005086448] | uncertain significance | 4 | 163166493 | 163166493 | Human | | name |
| 597956938 | CV3754740 | single nucleotide variant | NM_138386.3(NAF1):c.208G>A (p.Val70Ile) | not provided [RCV005080590] | uncertain significance | 4 | 163166520 | 163166520 | Human | | name |
| 597957399 | CV3755065 | single nucleotide variant | NM_138386.3(NAF1):c.1140C>T (p.Ala380=) | not provided [RCV005080735] | likely benign | 4 | 163129242 | 163129242 | Human | | name |
| 597901356 | CV3796377 | single nucleotide variant | NM_138386.3(NAF1):c.1227T>C (p.Phe409=) | not provided [RCV005152460] | likely benign | 4 | 163129155 | 163129155 | Human | | name |
| 597959411 | CV3797558 | single nucleotide variant | NM_138386.3(NAF1):c.109G>C (p.Val37Leu) | not provided [RCV005138245] | uncertain significance | 4 | 163166619 | 163166619 | Human | | name |
| 597938429 | CV3808245 | single nucleotide variant | NM_138386.3(NAF1):c.179A>G (p.Lys60Arg) | not provided [RCV005158433] | uncertain significance | 4 | 163166549 | 163166549 | Human | | name |
| 597862863 | CV3813969 | single nucleotide variant | NM_138386.3(NAF1):c.1002G>C (p.Arg334=) | not provided [RCV005147038] | likely benign | 4 | 163133185 | 163133185 | Human | | name |
| 597851944 | CV3824785 | single nucleotide variant | NM_138386.3(NAF1):c.1011C>G (p.Leu337=) | not provided [RCV005173824] | likely benign | 4 | 163133176 | 163133176 | Human | | name |
| 597876643 | CV3825666 | single nucleotide variant | NM_138386.3(NAF1):c.1053A>G (p.Val351=) | not provided [RCV005177540] | likely benign | 4 | 163129329 | 163129329 | Human | | name |
| 597871888 | CV3849398 | single nucleotide variant | NM_138386.3(NAF1):c.1059G>A (p.Gln353=) | not provided [RCV005197579] | likely benign | 4 | 163129323 | 163129323 | Human | | name |
| 597868265 | CV3858266 | single nucleotide variant | NM_138386.3(NAF1):c.1320C>A (p.Pro440=) | not provided [RCV005197009] | likely benign | 4 | 163129062 | 163129062 | Human | | name |
| 598129602 | CV3887019 | single nucleotide variant | NM_138386.3(NAF1):c.1428A>C (p.Pro476=) | not provided [RCV005245079] | likely benign | 4 | 163128954 | 163128954 | Human | | name |
| 598204906 | CV3987151 | single nucleotide variant | NM_138386.3(NAF1):c.113C>T (p.Pro38Leu) | not specified [RCV005376674] | uncertain significance | 4 | 163166615 | 163166615 | Human | | name |
| 150513807 | CV1210702 | single nucleotide variant | NM_138386.3(NAF1):c.484A>G (p.Ile162Val) | not provided [RCV001598743] | benign | 4 | 163164273 | 163164273 | Human | | name |
| 151355080 | CV1328147 | single nucleotide variant | NM_138386.3(NAF1):c.791G>A (p.Ser264Asn) | not provided [RCV005095255]|not specified [RCV001819623] | uncertain significance | 4 | 163140310 | 163140310 | Human | | name |
| 151355267 | CV1328334 | single nucleotide variant | NM_138386.3(NAF1):c.886G>A (p.Gly296Arg) | not specified [RCV001820339] | uncertain significance | 4 | 163137243 | 163137243 | Human | | name |
| 156043953 | CV1688353 | single nucleotide variant | NM_138386.3(NAF1):c.701G>C (p.Arg234Pro) | Pulmonary fibrosis [RCV002509795] | likely risk allele | 4 | 163145798 | 163145798 | Human | 2 | name |
| 156390169 | CV1869778 | single nucleotide variant | NM_138386.3(NAF1):c.357C>G (p.Asp119Glu) | not provided [RCV003067932] | uncertain significance | 4 | 163166371 | 163166371 | Human | | name |
| 156023528 | CV1920042 | single nucleotide variant | NM_138386.3(NAF1):c.422C>T (p.Ser141Leu) | not provided [RCV002619516]|not specified [RCV004068925] | uncertain significance | 4 | 163164335 | 163164335 | Human | | name |
| 156125333 | CV1969386 | single nucleotide variant | NM_138386.3(NAF1):c.532C>T (p.Leu178Phe) | not provided [RCV002593286] | uncertain significance | 4 | 163164225 | 163164225 | Human | | name |
| 156217244 | CV1995496 | single nucleotide variant | NM_138386.3(NAF1):c.343G>A (p.Asp115Asn) | NAF1-related disorder [RCV003903754]|not provided [RCV002667082]|not specified [RCV004066796] | uncertain significance | 4 | 163166385 | 163166385 | Human | 1 | name , trait , alternate_id |
| 155949993 | CV2046629 | single nucleotide variant | NM_138386.3(NAF1):c.304G>T (p.Ala102Ser) | not provided [RCV002775720] | uncertain significance | 4 | 163166424 | 163166424 | Human | | name |
| 155936829 | CV2058066 | single nucleotide variant | NM_138386.3(NAF1):c.784A>G (p.Ile262Val) | not provided [RCV002815429] | uncertain significance | 4 | 163140317 | 163140317 | Human | | name |
| 156212013 | CV2087263 | single nucleotide variant | NM_138386.3(NAF1):c.653C>G (p.Thr218Ser) | not provided [RCV002852863] | uncertain significance | 4 | 163145846 | 163145846 | Human | | name |
| 155948393 | CV2087793 | single nucleotide variant | NM_138386.3(NAF1):c.857T>C (p.Ile286Thr) | not provided [RCV002880360] | uncertain significance | 4 | 163140244 | 163140244 | Human | | name |
| 156340320 | CV2092691 | single nucleotide variant | NM_138386.3(NAF1):c.439A>G (p.Ile147Val) | not provided [RCV002900441] | benign | 4 | 163164318 | 163164318 | Human | | name |
| 156220617 | CV2124345 | single nucleotide variant | NM_138386.3(NAF1):c.966A>C (p.Glu322Asp) | not provided [RCV002958127] | conflicting interpretations of pathogenicity|uncertain significance | 4 | 163133221 | 163133221 | Human | | name |
| 156180222 | CV2201720 | single nucleotide variant | NM_138386.3(NAF1):c.584A>T (p.Asp195Val) | not specified [RCV004082167] | uncertain significance | 4 | 163148391 | 163148391 | Human | | name |
| 156359388 | CV2257673 | single nucleotide variant | NM_138386.3(NAF1):c.518C>T (p.Thr173Ile) | not specified [RCV004127761] | uncertain significance | 4 | 163164239 | 163164239 | Human | | name |
| 156050006 | CV2319349 | single nucleotide variant | NM_138386.3(NAF1):c.601C>T (p.Leu201Phe) | not specified [RCV004180173] | uncertain significance | 4 | 163148374 | 163148374 | Human | | name |
| 243049593 | CV2416905 | single nucleotide variant | NM_138386.3(NAF1):c.691A>T (p.Lys231Ter) | not provided [RCV003151577] | likely pathogenic | 4 | 163145808 | 163145808 | Human | | name |
| 401728467 | CV2686114 | single nucleotide variant | NM_138386.3(NAF1):c.617G>A (p.Ser206Asn) | not specified [RCV004297121] | uncertain significance | 4 | 163148358 | 163148358 | Human | | name |
| 401881292 | CV2789561 | single nucleotide variant | NM_138386.3(NAF1):c.968C>G (p.Ala323Gly) | not specified [RCV004360166] | uncertain significance | 4 | 163133219 | 163133219 | Human | | name |
| 401902378 | CV2801840 | single nucleotide variant | NM_138386.3(NAF1):c.568A>G (p.Ile190Val) | NAF1-related disorder [RCV003418864]|not provided [RCV003720900] | uncertain significance | 4 | 163148407 | 163148407 | Human | 1 | name , trait , alternate_id |
| 405177584 | CV2864676 | single nucleotide variant | NM_138386.3(NAF1):c.986C>A (p.Ser329Tyr) | not provided [RCV003542776] | uncertain significance | 4 | 163133201 | 163133201 | Human | | name |
| 405064079 | CV2878921 | single nucleotide variant | NM_138386.3(NAF1):c.610G>A (p.Val204Ile) | not provided [RCV003548113] | uncertain significance | 4 | 163148365 | 163148365 | Human | | name |
| 405146875 | CV2881573 | single nucleotide variant | NM_138386.3(NAF1):c.373G>A (p.Asp125Asn) | not provided [RCV003561430] | benign | 4 | 163164384 | 163164384 | Human | | name |
| 402495711 | CV2883805 | single nucleotide variant | NM_138386.3(NAF1):c.764G>A (p.Arg255Gln) | not provided [RCV003573477] | uncertain significance | 4 | 163140337 | 163140337 | Human | | name |
| 405222493 | CV2908420 | single nucleotide variant | NM_138386.3(NAF1):c.644A>C (p.Glu215Ala) | not provided [RCV003568647] | uncertain significance | 4 | 163145855 | 163145855 | Human | | name |
| 402473551 | CV2919383 | single nucleotide variant | NM_138386.3(NAF1):c.482A>G (p.Gln161Arg) | not provided [RCV003571024] | uncertain significance | 4 | 163164275 | 163164275 | Human | | name |
| 402524141 | CV2940282 | single nucleotide variant | NM_138386.3(NAF1):c.344A>C (p.Asp115Ala) | not provided [RCV003663423] | uncertain significance | 4 | 163166384 | 163166384 | Human | | name |
| 402491225 | CV2949106 | single nucleotide variant | NM_138386.3(NAF1):c.388A>G (p.Ser130Gly) | not provided [RCV003660566] | uncertain significance | 4 | 163164369 | 163164369 | Human | | name |
| 405187152 | CV2964015 | single nucleotide variant | NM_138386.3(NAF1):c.656A>G (p.Asn219Ser) | not provided [RCV003676782] | uncertain significance | 4 | 163145843 | 163145843 | Human | | name |
| 402499651 | CV3035177 | single nucleotide variant | NM_138386.3(NAF1):c.783C>A (p.His261Gln) | not provided [RCV003714604]|not specified [RCV005377499] | uncertain significance | 4 | 163140318 | 163140318 | Human | | name |
| 402506915 | CV3039218 | single nucleotide variant | NM_138386.3(NAF1):c.502A>G (p.Asn168Asp) | not provided [RCV003715290] | uncertain significance | 4 | 163164255 | 163164255 | Human | | name |
| 405216961 | CV3055777 | single nucleotide variant | NM_138386.3(NAF1):c.392C>T (p.Ser131Leu) | not provided [RCV003732777] | uncertain significance | 4 | 163164365 | 163164365 | Human | | name |
| 405243394 | CV3071853 | single nucleotide variant | NM_138386.3(NAF1):c.311C>T (p.Pro104Leu) | not provided [RCV003737789] | uncertain significance | 4 | 163166417 | 163166417 | Human | | name |
| 405026824 | CV3129652 | single nucleotide variant | NM_138386.3(NAF1):c.709G>T (p.Ala237Ser) | not provided [RCV003830250] | uncertain significance | 4 | 163145790 | 163145790 | Human | | name |
| 405177537 | CV3148619 | single nucleotide variant | NM_138386.3(NAF1):c.299G>A (p.Gly100Glu) | not provided [RCV003858396] | uncertain significance | 4 | 163166429 | 163166429 | Human | | name |
| 405191650 | CV3157112 | single nucleotide variant | NM_138386.3(NAF1):c.336G>C (p.Glu112Asp) | not provided [RCV003859800] | uncertain significance | 4 | 163166392 | 163166392 | Human | | name |
| 402479691 | CV3170599 | single nucleotide variant | NM_138386.3(NAF1):c.304G>A (p.Ala102Thr) | not provided [RCV003875801] | uncertain significance | 4 | 163166424 | 163166424 | Human | | name |
| 402469326 | CV3174725 | single nucleotide variant | NM_138386.3(NAF1):c.313G>T (p.Ala105Ser) | NAF1-related disorder [RCV003893559]|not provided [RCV003873835] | uncertain significance | 4 | 163166415 | 163166415 | Human | 1 | name , trait , alternate_id |
| 402490731 | CV3182427 | single nucleotide variant | NM_138386.3(NAF1):c.763C>T (p.Arg255Trp) | not provided [RCV003876913] | uncertain significance | 4 | 163140338 | 163140338 | Human | | name |
| 405782133 | CV3331459 | single nucleotide variant | NM_138386.3(NAF1):c.310C>G (p.Pro104Ala) | not provided [RCV005065126]|not specified [RCV004458847] | uncertain significance | 4 | 163166418 | 163166418 | Human | | name |
| 405782143 | CV3331461 | single nucleotide variant | NM_138386.3(NAF1):c.325G>T (p.Asp109Tyr) | not provided [RCV005104737]|not specified [RCV004458849] | uncertain significance | 4 | 163166403 | 163166403 | Human | | name |
| 407520652 | CV3447886 | single nucleotide variant | NM_138386.3(NAF1):c.329C>G (p.Ser110Cys) | not provided [RCV005059697]|not specified [RCV004652255] | uncertain significance | 4 | 163166399 | 163166399 | Human | | name |
| 408365861 | CV3511702 | single nucleotide variant | NM_138386.3(NAF1):c.524A>G (p.Asp175Gly) | NAF1-related disorder [RCV004755366] | uncertain significance | 4 | 163164233 | 163164233 | Human | | name , trait , alternate_id |
| 597653630 | CV3555544 | single nucleotide variant | NM_138386.3(NAF1):c.587T>C (p.Ile196Thr) | not specified [RCV004833975] | uncertain significance | 4 | 163148388 | 163148388 | Human | | name |
| 597653638 | CV3555545 | single nucleotide variant | NM_138386.3(NAF1):c.757G>T (p.Val253Leu) | not provided [RCV005061490]|not specified [RCV004833976] | uncertain significance | 4 | 163140344 | 163140344 | Human | | name |
| 597653644 | CV3555546 | single nucleotide variant | NM_138386.3(NAF1):c.302C>T (p.Ala101Val) | not specified [RCV004833977] | uncertain significance | 4 | 163166426 | 163166426 | Human | | name |
| 597653651 | CV3555547 | single nucleotide variant | NM_138386.3(NAF1):c.881A>T (p.Asp294Val) | not specified [RCV004833978] | uncertain significance | 4 | 163137248 | 163137248 | Human | | name |
| 597653660 | CV3555548 | single nucleotide variant | NM_138386.3(NAF1):c.907A>G (p.Asn303Asp) | not specified [RCV004833979] | uncertain significance | 4 | 163137222 | 163137222 | Human | | name |
| 597653669 | CV3555549 | single nucleotide variant | NM_138386.3(NAF1):c.649A>G (p.Met217Val) | not specified [RCV004833980] | uncertain significance | 4 | 163145850 | 163145850 | Human | | name |
| 597653685 | CV3555551 | single nucleotide variant | NM_138386.3(NAF1):c.301G>A (p.Ala101Thr) | not specified [RCV004833982] | uncertain significance | 4 | 163166427 | 163166427 | Human | | name |
| 597915133 | CV3740690 | single nucleotide variant | NM_138386.3(NAF1):c.454G>C (p.Val152Leu) | not provided [RCV005074027] | uncertain significance | 4 | 163164303 | 163164303 | Human | | name |
| 597881992 | CV3744979 | single nucleotide variant | NM_138386.3(NAF1):c.473A>G (p.Asp158Gly) | not provided [RCV005070004] | uncertain significance | 4 | 163164284 | 163164284 | Human | | name |
| 597863223 | CV3745287 | single nucleotide variant | NM_138386.3(NAF1):c.316C>T (p.Arg106Trp) | not provided [RCV005067643]|not specified [RCV005379699] | uncertain significance | 4 | 163166412 | 163166412 | Human | | name |
| 597964441 | CV3754358 | single nucleotide variant | NM_138386.3(NAF1):c.361G>T (p.Asp121Tyr) | not provided [RCV005082465] | uncertain significance | 4 | 163166367 | 163166367 | Human | | name |
| 597889342 | CV3788086 | single nucleotide variant | NM_138386.3(NAF1):c.764G>T (p.Arg255Leu) | not provided [RCV005125444] | uncertain significance | 4 | 163140337 | 163140337 | Human | | name |
| 597964308 | CV3792202 | single nucleotide variant | NM_138386.3(NAF1):c.422C>G (p.Ser141Trp) | not provided [RCV005139760] | uncertain significance | 4 | 163164335 | 163164335 | Human | | name |
| 597868776 | CV3803384 | single nucleotide variant | NM_138386.3(NAF1):c.340T>A (p.Ser114Thr) | not provided [RCV005147981] | uncertain significance | 4 | 163166388 | 163166388 | Human | | name |
| 597905565 | CV3803938 | single nucleotide variant | NM_138386.3(NAF1):c.326A>C (p.Asp109Ala) | not provided [RCV005153483] | uncertain significance | 4 | 163166402 | 163166402 | Human | | name |
| 597849612 | CV3824458 | single nucleotide variant | NM_138386.3(NAF1):c.404C>T (p.Ser135Phe) | not provided [RCV005173497] | uncertain significance | 4 | 163164353 | 163164353 | Human | | name |
| 597859769 | CV3850229 | single nucleotide variant | NM_138386.3(NAF1):c.388A>C (p.Ser130Arg) | not provided [RCV005195562] | uncertain significance | 4 | 163164369 | 163164369 | Human | | name |
| 597886665 | CV3854991 | single nucleotide variant | NM_138386.3(NAF1):c.458T>A (p.Leu153Gln) | not provided [RCV005199837] | uncertain significance | 4 | 163164299 | 163164299 | Human | | name |
| 151355961 | CV1327144 | single nucleotide variant | NM_138386.3(NAF1):c.1348G>A (p.Gly450Ser) | not provided [RCV002541969]|not specified [RCV001822314] | benign|likely benign | 4 | 163129034 | 163129034 | Human | | name |
| 151354980 | CV1328047 | single nucleotide variant | NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser) | NAF1-related disorder [RCV003923327]|not provided [RCV002542578]|not specified [RCV001819523] | likely benign|conflicting interpretations of pathogenicity | 4 | 163128904 | 163128904 | Human | 1 | name , trait , alternate_id |
| 156043872 | CV1688347 | single nucleotide variant | NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter) | Pulmonary fibrosis [RCV002509789]|not provided [RCV003708631] | pathogenic|uncertain significance | 4 | 163129259 | 163129259 | Human | 2 | name |
| 156176805 | CV1891797 | single nucleotide variant | NM_138386.3(NAF1):c.1379C>G (p.Pro460Arg) | not provided [RCV003083421]|not specified [RCV004071658] | uncertain significance | 4 | 163129003 | 163129003 | Human | | name |
| 156310639 | CV1928386 | single nucleotide variant | NM_138386.3(NAF1):c.1151G>A (p.Arg384Gln) | not provided [RCV002648142] | uncertain significance | 4 | 163129231 | 163129231 | Human | | name |
| 156411001 | CV1976020 | single nucleotide variant | NM_138386.3(NAF1):c.1070C>G (p.Ala357Gly) | not provided [RCV002587349] | uncertain significance | 4 | 163129312 | 163129312 | Human | | name |
| 156391038 | CV1995501 | single nucleotide variant | NM_138386.3(NAF1):c.1104T>G (p.Tyr368Ter) | not provided [RCV002680764] | uncertain significance | 4 | 163129278 | 163129278 | Human | | name |
| 156215853 | CV1997458 | single nucleotide variant | NM_138386.3(NAF1):c.1187A>G (p.Tyr396Cys) | not provided [RCV002667028]|not specified [RCV004066714] | uncertain significance | 4 | 163129195 | 163129195 | Human | | name |
| 156394136 | CV2002686 | single nucleotide variant | NM_138386.3(NAF1):c.1036G>A (p.Glu346Lys) | not provided [RCV002681067] | uncertain significance | 4 | 163129346 | 163129346 | Human | | name |
| 156097588 | CV2102994 | single nucleotide variant | NM_138386.3(NAF1):c.1375C>T (p.His459Tyr) | not provided [RCV002913277]|not specified [RCV004642061] | uncertain significance | 4 | 163129007 | 163129007 | Human | | name |
| 156383602 | CV2128235 | single nucleotide variant | NM_138386.3(NAF1):c.1163G>A (p.Gly388Asp) | NAF1-related disorder [RCV004754908]|not provided [RCV002943328] | uncertain significance | 4 | 163129219 | 163129219 | Human | 1 | name , trait , alternate_id |
| 156024032 | CV2128780 | single nucleotide variant | NM_138386.3(NAF1):c.1070C>T (p.Ala357Val) | NAF1-related disorder [RCV004754910]|not provided [RCV002948913] | uncertain significance | 4 | 163129312 | 163129312 | Human | 1 | name , trait , alternate_id |
| 156350686 | CV2157452 | single nucleotide variant | NM_138386.3(NAF1):c.1442C>T (p.Pro481Leu) | not provided [RCV003030849] | uncertain significance | 4 | 163128940 | 163128940 | Human | | name |
| 243049519 | CV2416906 | single nucleotide variant | NM_138386.3(NAF1):c.1462T>C (p.Ser488Pro) | not specified [RCV003151578] | uncertain significance | 4 | 163128920 | 163128920 | Human | | name |
| 402489303 | CV2866518 | single nucleotide variant | NM_138386.3(NAF1):c.1202T>C (p.Met401Thr) | not provided [RCV003572851] | uncertain significance | 4 | 163129180 | 163129180 | Human | | name |
| 402493270 | CV2890455 | single nucleotide variant | NM_138386.3(NAF1):c.1276C>T (p.Leu426Phe) | not provided [RCV003573228] | uncertain significance | 4 | 163129106 | 163129106 | Human | | name |
| 405074980 | CV2937916 | single nucleotide variant | NM_138386.3(NAF1):c.1402C>G (p.Leu468Val) | not provided [RCV003664207] | uncertain significance | 4 | 163128980 | 163128980 | Human | | name |
| 405123609 | CV2942583 | single nucleotide variant | NM_138386.3(NAF1):c.1124G>A (p.Arg375Gln) | not provided [RCV003671735] | uncertain significance | 4 | 163129258 | 163129258 | Human | | name |
| 405151782 | CV2950438 | single nucleotide variant | NM_138386.3(NAF1):c.1412C>T (p.Pro471Leu) | not provided [RCV003670108] | uncertain significance | 4 | 163128970 | 163128970 | Human | | name |
| 405168602 | CV2951055 | single nucleotide variant | NM_138386.3(NAF1):c.1073A>G (p.His358Arg) | not provided [RCV003675233] | uncertain significance | 4 | 163129309 | 163129309 | Human | | name |
| 405253852 | CV3045052 | single nucleotide variant | NM_138386.3(NAF1):c.1105C>T (p.Arg369Cys) | not provided [RCV003722725] | uncertain significance | 4 | 163129277 | 163129277 | Human | | name |
| 405143116 | CV3056101 | single nucleotide variant | NM_138386.3(NAF1):c.1309C>T (p.Arg437Cys) | not provided [RCV003725826]|not specified [RCV004827990] | uncertain significance | 4 | 163129073 | 163129073 | Human | | name |
| 404981780 | CV3121409 | single nucleotide variant | NM_138386.3(NAF1):c.1262A>G (p.Gln421Arg) | not provided [RCV003826208] | uncertain significance | 4 | 163129120 | 163129120 | Human | | name |
| 405183337 | CV3124056 | single nucleotide variant | NM_138386.3(NAF1):c.1310G>A (p.Arg437His) | not provided [RCV003820252] | uncertain significance | 4 | 163129072 | 163129072 | Human | | name |
| 405116583 | CV3134324 | single nucleotide variant | NM_138386.3(NAF1):c.1200T>G (p.His400Gln) | not provided [RCV003836926] | uncertain significance | 4 | 163129182 | 163129182 | Human | | name |
| 405091280 | CV3134432 | single nucleotide variant | NM_138386.3(NAF1):c.1339G>A (p.Val447Ile) | not provided [RCV003834778] | uncertain significance | 4 | 163129043 | 163129043 | Human | | name |
| 404996210 | CV3172864 | single nucleotide variant | NM_138386.3(NAF1):c.1030C>T (p.Pro344Ser) | not provided [RCV003882146] | uncertain significance | 4 | 163133157 | 163133157 | Human | | name |
| 402479433 | CV3174427 | single nucleotide variant | NM_138386.3(NAF1):c.1051G>A (p.Val351Ile) | not provided [RCV003875774] | uncertain significance | 4 | 163129331 | 163129331 | Human | | name |
| 405253628 | CV3178222 | single nucleotide variant | NM_138386.3(NAF1):c.1025A>G (p.Asn342Ser) | not provided [RCV003871003] | uncertain significance | 4 | 163133162 | 163133162 | Human | | name |
| 402507563 | CV3181775 | single nucleotide variant | NM_138386.3(NAF1):c.1436C>T (p.Pro479Leu) | not provided [RCV003878609] | uncertain significance | 4 | 163128946 | 163128946 | Human | | name |
| 407487742 | CV3447881 | single nucleotide variant | NM_138386.3(NAF1):c.1273C>T (p.Pro425Ser) | not specified [RCV004641154] | uncertain significance | 4 | 163129109 | 163129109 | Human | | name |
| 407487760 | CV3447885 | single nucleotide variant | NM_138386.3(NAF1):c.1172C>T (p.Pro391Leu) | not specified [RCV004641158] | uncertain significance | 4 | 163129210 | 163129210 | Human | | name |
| 597903822 | CV3738224 | single nucleotide variant | NM_138386.3(NAF1):c.1249C>T (p.Pro417Ser) | not provided [RCV005072646] | uncertain significance | 4 | 163129133 | 163129133 | Human | | name |
| 597969604 | CV3753354 | single nucleotide variant | NM_138386.3(NAF1):c.1096A>G (p.Lys366Glu) | not provided [RCV005083839] | uncertain significance | 4 | 163129286 | 163129286 | Human | | name |
| 597839355 | CV3758372 | single nucleotide variant | NM_138386.3(NAF1):c.1345A>G (p.Met449Val) | not provided [RCV005086207] | uncertain significance | 4 | 163129037 | 163129037 | Human | | name |
| 597872550 | CV3768752 | single nucleotide variant | NM_138386.3(NAF1):c.1000C>T (p.Arg334Trp) | not provided [RCV005122922] | uncertain significance | 4 | 163133187 | 163133187 | Human | | name |
| 597951850 | CV3815422 | single nucleotide variant | NM_138386.3(NAF1):c.1414C>T (p.Pro472Ser) | not provided [RCV005161372] | uncertain significance | 4 | 163128968 | 163128968 | Human | | name |
| 597943189 | CV3816406 | single nucleotide variant | NM_138386.3(NAF1):c.1448C>A (p.Ser483Tyr) | not provided [RCV005159467] | uncertain significance | 4 | 163128934 | 163128934 | Human | | name |
| 597971096 | CV3832745 | single nucleotide variant | NM_138386.3(NAF1):c.1423C>A (p.Pro475Thr) | not provided [RCV005166824] | uncertain significance | 4 | 163128959 | 163128959 | Human | | name |
| 597914624 | CV3833953 | single nucleotide variant | NM_138386.3(NAF1):c.1399T>G (p.Ser467Ala) | not provided [RCV005183312] | uncertain significance | 4 | 163128983 | 163128983 | Human | | name |
| 597952278 | CV3843710 | single nucleotide variant | NM_138386.3(NAF1):c.1316C>T (p.Pro439Leu) | not provided [RCV005190572] | uncertain significance | 4 | 163129066 | 163129066 | Human | | name |
| 597872712 | CV3849546 | single nucleotide variant | NM_138386.3(NAF1):c.1378C>T (p.Pro460Ser) | not provided [RCV005197727]|not specified [RCV005379831] | uncertain significance | 4 | 163129004 | 163129004 | Human | | name |
| 598204886 | CV3987147 | single nucleotide variant | NM_138386.3(NAF1):c.1334C>A (p.Pro445Gln) | not specified [RCV005376671] | uncertain significance | 4 | 163129048 | 163129048 | Human | | name |
| 598204894 | CV3987148 | single nucleotide variant | NM_138386.3(NAF1):c.1331C>T (p.Pro444Leu) | not specified [RCV005376672] | uncertain significance | 4 | 163129051 | 163129051 | Human | | name |
| 598204900 | CV3987150 | single nucleotide variant | NM_138386.3(NAF1):c.1102T>C (p.Tyr368His) | not specified [RCV005376673] | uncertain significance | 4 | 163129280 | 163129280 | Human | | name |
| 598204913 | CV3987152 | single nucleotide variant | NM_138386.3(NAF1):c.1259C>T (p.Pro420Leu) | not specified [RCV005376675] | uncertain significance | 4 | 163129123 | 163129123 | Human | | name |
| 155936862 | CV1688329 | duplication | NM_001128931.2(NAF1):c.1132dup (p.Thr378fs) | Pulmonary fibrosis [RCV002509771] | likely risk allele | 4 | 163127016 | 163127017 | Human | 2 | name |
| 156043574 | CV1688330 | microsatellite | NM_138386.3(NAF1):c.420GTC[1] (p.Ser145del) | Pulmonary fibrosis [RCV002509772] | likely risk allele | 4 | 163164332 | 163164334 | Human | | name |
| 329847486 | CV2524651 | deletion | NM_138386.3(NAF1):c.956_957del (p.Lys319fs) | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV003227583] | pathogenic | 4 | 163133230 | 163133231 | Human | 1 | name |
| 597865096 | CV3861164 | deletion | NM_138386.3(NAF1):c.351_362del (p.115DS[2]) | not provided [RCV005196512] | uncertain significance | 4 | 163166366 | 163166377 | Human | | name |
| 401903133 | CV2797107 | single nucleotide variant | NM_001128931.2(NAF1):c.1076C>T (p.Pro359Leu) | NAF1-related disorder [RCV003406249] | uncertain significance | 4 | 163127073 | 163127073 | Human | | name , trait , alternate_id |
| 597936729 | CV3862560 | deletion | NM_138386.3(NAF1):c.974_976del (p.Gln325del) | not provided [RCV005207832] | uncertain significance | 4 | 163133211 | 163133213 | Human | | name |
| 596931559 | CV3538745 | duplication | NM_138386.3(NAF1):c.289_291dup (p.Thr97_Ser98insThr) | not provided [RCV004792871] | uncertain significance | 4 | 163166436 | 163166437 | Human | | name |
| 405038170 | CV3067675 | duplication | NM_138386.3(NAF1):c.243_248dup (p.Pro85_Pro86insGlnPro) | not provided [RCV003739702] | uncertain significance | 4 | 163166479 | 163166480 | Human | | name |