| 28888296 | CV887504 | single nucleotide variant | NM_144492.2(CLDN14):c.*356T>C | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138346] | uncertain significance | 21 | 36460620 | 36460620 | Human | 1 | name |
| 28901507 | CV886759 | single nucleotide variant | NM_001146079.2(CLDN14):c.-5G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV001143201]|not provided [RCV001571304] | likely benign|uncertain significance | 21 | 36461700 | 36461700 | Human | 1 | name |
| 150481864 | CV1209865 | single nucleotide variant | NM_001146079.2(CLDN14):c.-75G>A | not provided [RCV001590563] | likely benign | 21 | 36461770 | 36461770 | Human | | name |
| 10051658 | CV193735 | single nucleotide variant | NM_001146079.2(CLDN14):c.*10G>C | Autosomal recessive nonsyndromic hearing loss 29 [RCV000299110]|CLDN14-related disorder [RCV003891732]|not provided [RCV001675657]|not specified [RCV000177401] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 36460966 | 36460966 | Human | 1 | name , trait , alternate_id |
| 11614400 | CV336750 | single nucleotide variant | NM_001146079.2(CLDN14):c.*51G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000276784]|not provided [RCV001597106] | benign|likely benign | 21 | 36460925 | 36460925 | Human | 1 | name |
| 11621539 | CV336759 | single nucleotide variant | NM_001146079.2(CLDN14):c.-46G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000349612]|not provided [RCV000842360] | likely benign|uncertain significance | 21 | 36461741 | 36461741 | Human | 1 | name |
| 11663278 | CV351700 | single nucleotide variant | NM_001146079.2(CLDN14):c.-54G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000394465] | uncertain significance | 21 | 36461749 | 36461749 | Human | 1 | name |
| 11629102 | CV351701 | single nucleotide variant | NM_001146079.2(CLDN14):c.-75G>T | Autosomal recessive nonsyndromic hearing loss 29 [RCV000314776]|not provided [RCV001566094] | likely benign|uncertain significance | 21 | 36461770 | 36461770 | Human | 1 | name |
| 28888304 | CV886752 | single nucleotide variant | NM_001146079.2(CLDN14):c.*66G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138348] | uncertain significance | 21 | 36460910 | 36460910 | Human | 1 | name |
| 28888308 | CV886753 | single nucleotide variant | NM_001146079.2(CLDN14):c.*48G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138349]|not provided [RCV001544893] | likely benign|uncertain significance | 21 | 36460928 | 36460928 | Human | 1 | name |
| 28882419 | CV886760 | single nucleotide variant | NM_001146079.2(CLDN14):c.-76C>T | Autosomal recessive nonsyndromic hearing loss 29 [RCV001136623] | uncertain significance | 21 | 36461771 | 36461771 | Human | 1 | name |
| 150416362 | CV1181915 | duplication | NM_001146079.2(CLDN14):c.*214dup | not provided [RCV001549583] | likely benign | 21 | 36460761 | 36460762 | Human | | name |
| 11622638 | CV336766 | single nucleotide variant | NM_001146079.2(CLDN14):c.-390G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000362592] | uncertain significance | 21 | 36479803 | 36479803 | Human | 1 | name |
| 11655674 | CV346428 | single nucleotide variant | NM_001146079.2(CLDN14):c.-634G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000327626] | uncertain significance | 21 | 36480047 | 36480047 | Human | 1 | name |
| 11651169 | CV350647 | single nucleotide variant | NM_001146079.2(CLDN14):c.-136G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000297209] | uncertain significance | 21 | 36479549 | 36479549 | Human | 1 | name |
| 11626621 | CV350648 | single nucleotide variant | NM_001146079.2(CLDN14):c.-297G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000266849] | uncertain significance | 21 | 36479710 | 36479710 | Human | 1 | name |
| 11646807 | CV350649 | single nucleotide variant | NM_001146079.2(CLDN14):c.-492C>T | Autosomal recessive nonsyndromic hearing loss 29 [RCV000272665] | uncertain significance | 21 | 36479905 | 36479905 | Human | 1 | name |
| 11631230 | CV351699 | single nucleotide variant | NM_001146079.2(CLDN14):c.*107G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000370840]|not provided [RCV004694635] | uncertain significance | 21 | 36460869 | 36460869 | Human | 1 | name |
| 11659337 | CV351704 | single nucleotide variant | NM_001146079.2(CLDN14):c.-187C>T | Autosomal recessive nonsyndromic hearing loss 29 [RCV000356835] | uncertain significance | 21 | 36479600 | 36479600 | Human | 1 | name |
| 11626372 | CV351705 | single nucleotide variant | NM_001146079.2(CLDN14):c.-242C>T | Autosomal recessive nonsyndromic hearing loss 29 [RCV000262046] | uncertain significance | 21 | 36479655 | 36479655 | Human | 1 | name |
| 11628511 | CV351708 | single nucleotide variant | NM_001146079.2(CLDN14):c.-264G>C | Autosomal recessive nonsyndromic hearing loss 29 [RCV000303236]|not provided [RCV004717465] | benign|likely benign | 21 | 36479677 | 36479677 | Human | 1 | name |
| 11630760 | CV351709 | single nucleotide variant | NM_001146079.2(CLDN14):c.-290A>G | Autosomal recessive nonsyndromic hearing loss 29 [RCV000358068]|not provided [RCV004718541] | benign|likely benign | 21 | 36479703 | 36479703 | Human | 1 | name |
| 11629565 | CV351712 | single nucleotide variant | NM_001146079.2(CLDN14):c.-337C>G | Autosomal recessive nonsyndromic hearing loss 29 [RCV000326596] | uncertain significance | 21 | 36479750 | 36479750 | Human | 1 | name |
| 11662537 | CV351713 | single nucleotide variant | NM_001146079.2(CLDN14):c.-645G>T | Autosomal recessive nonsyndromic hearing loss 29 [RCV000386836] | uncertain significance | 21 | 36480058 | 36480058 | Human | 1 | name |
| 28888299 | CV886751 | single nucleotide variant | NM_001146079.2(CLDN14):c.*222T>C | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138347] | uncertain significance | 21 | 36460754 | 36460754 | Human | 1 | name |
| 28882429 | CV886762 | single nucleotide variant | NM_001146079.2(CLDN14):c.-130G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV001136625] | uncertain significance | 21 | 36479543 | 36479543 | Human | 1 | name |
| 28897107 | CV886763 | single nucleotide variant | NM_001146079.2(CLDN14):c.-426C>T | Autosomal recessive nonsyndromic hearing loss 29 [RCV001141464] | uncertain significance | 21 | 36479839 | 36479839 | Human | 1 | name |
| 28897109 | CV886764 | single nucleotide variant | NM_001146079.2(CLDN14):c.-436G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV001141465] | uncertain significance | 21 | 36479849 | 36479849 | Human | 1 | name |
| 28897112 | CV886765 | single nucleotide variant | NM_001146079.2(CLDN14):c.-445G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV001141466] | uncertain significance | 21 | 36479858 | 36479858 | Human | 1 | name |
| 28897114 | CV886766 | single nucleotide variant | NM_001146079.2(CLDN14):c.-531G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV001141467] | uncertain significance | 21 | 36479944 | 36479944 | Human | 1 | name |
| 11663743 | CV336765 | single nucleotide variant | NM_001146079.2(CLDN14):c.-82+9G>C | Autosomal recessive nonsyndromic hearing loss 29 [RCV000398970] | uncertain significance | 21 | 36479486 | 36479486 | Human | 1 | name |
| 408390264 | CV3525007 | single nucleotide variant | NM_001146079.2(CLDN14):c.-81-4T>C | not provided [RCV004769902] | uncertain significance | 21 | 36461780 | 36461780 | Human | | name |
| 150463797 | CV1263858 | single nucleotide variant | NM_001146079.2(CLDN14):c.-81-184A>G | not provided [RCV001682559] | benign | 21 | 36461960 | 36461960 | Human | 14 | name |
| 11630523 | CV350646 | single nucleotide variant | NM_001146079.2(CLDN14):c.-82+2024G>A | Autosomal recessive nonsyndromic hearing loss 29 [RCV000350984]|not provided [RCV004703843] | likely benign | 21 | 36477471 | 36477471 | Human | 1 | name |
| 28882426 | CV886761 | single nucleotide variant | NM_001146079.2(CLDN14):c.-82+2044A>C | Autosomal recessive nonsyndromic hearing loss 29 [RCV001136624] | uncertain significance | 21 | 36477451 | 36477451 | Human | 1 | name |
| 156440784 | CV1940505 | single nucleotide variant | NM_001146079.2(CLDN14):c.12G>A (p.Thr4=) | not provided [RCV003110824] | likely benign | 21 | 36461684 | 36461684 | Human | | name |
| 8621477 | CV75451 | single nucleotide variant | NM_001146079.2(CLDN14):c.15C>T (p.Ala5=) | not provided [RCV000054673] | likely benign|uncertain significance | 21 | 36461681 | 36461681 | Human | | name |
| 8621478 | CV75452 | single nucleotide variant | NM_001146079.2(CLDN14):c.18G>A (p.Val6=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001143200]|not provided [RCV000054674] | likely benign|uncertain significance | 21 | 36461678 | 36461678 | Human | 1 | name |
| 156349774 | CV1965319 | single nucleotide variant | NM_001146079.2(CLDN14):c.91C>A (p.Arg31=) | not provided [RCV002580976] | likely benign | 21 | 36461605 | 36461605 | Human | | name |
| 405183814 | CV3057856 | single nucleotide variant | NM_001146079.2(CLDN14):c.84G>A (p.Pro28=) | not provided [RCV003729062] | likely benign | 21 | 36461612 | 36461612 | Human | | name |
| 8606908 | CV53255 | single nucleotide variant | NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000384164]|not provided [RCV000991810]|not specified [RCV000037063] | benign|likely benign | 21 | 36461633 | 36461633 | Human | 1 | name |
| 8621479 | CV75453 | single nucleotide variant | NM_001146079.2(CLDN14):c.60C>T (p.Gly20=) | not provided [RCV000054675] | uncertain significance | 21 | 36461636 | 36461636 | Human | | name |
| 150408205 | CV1178512 | single nucleotide variant | NM_001146079.2(CLDN14):c.294C>T (p.Ala98=) | not provided [RCV001545814] | benign|likely benign | 21 | 36461402 | 36461402 | Human | | name |
| 153305010 | CV1687458 | single nucleotide variant | NM_001146079.2(CLDN14):c.105C>T (p.His35=) | not provided [RCV002263278] | likely benign | 21 | 36461591 | 36461591 | Human | | name |
| 9691504 | CV176238 | single nucleotide variant | NM_001146079.2(CLDN14):c.273G>A (p.Ser91=) | not provided [RCV000895619]|not specified [RCV000150342] | likely benign|uncertain significance | 21 | 36461423 | 36461423 | Human | | name |
| 408374560 | CV3502465 | single nucleotide variant | NM_001146079.2(CLDN14):c.10A>G (p.Thr4Ala) | not provided [RCV004726052] | uncertain significance | 21 | 36461686 | 36461686 | Human | | name |
| 597895598 | CV3833703 | single nucleotide variant | NM_001146079.2(CLDN14):c.288C>G (p.Ala96=) | not provided [RCV005180395] | likely benign | 21 | 36461408 | 36461408 | Human | | name |
| 13535207 | CV497789 | single nucleotide variant | NM_001146079.2(CLDN14):c.102G>A (p.Ala34=) | not provided [RCV000896979]|not specified [RCV000607610] | likely benign | 21 | 36461594 | 36461594 | Human | | name |
| 8606904 | CV53251 | single nucleotide variant | NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001000269]|not provided [RCV000991809]|not specified [RCV000037059] | benign|likely benign | 21 | 36461685 | 36461685 | Human | 1 | name |
| 8606905 | CV53252 | single nucleotide variant | NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000288816]|not provided [RCV002054633]|not specified [RCV000037060] | benign|likely benign | 21 | 36461453 | 36461453 | Human | 2 | name |
| 28901503 | CV886758 | single nucleotide variant | NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001143199]|not provided [RCV001593290] | benign|likely benign|uncertain significance | 21 | 36461567 | 36461567 | Human | 1 | name |
| 126910636 | CV1053400 | single nucleotide variant | NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter) | Hearing impairment [RCV001375278]|not provided [RCV002550952] | pathogenic|likely pathogenic|uncertain significance | 21 | 36461607 | 36461607 | Human | 2 | name |
| 126910565 | CV1053401 | single nucleotide variant | NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser) | Alport syndrome [RCV001375234] | uncertain significance | 21 | 36461647 | 36461647 | Human | 1 | name |
| 151351253 | CV1323788 | single nucleotide variant | NM_001146079.2(CLDN14):c.315G>A (p.Thr105=) | not provided [RCV001810334] | likely benign | 21 | 36461381 | 36461381 | Human | | name |
| 152139511 | CV1638203 | single nucleotide variant | NM_001146079.2(CLDN14):c.549G>A (p.Leu183=) | not provided [RCV002177870] | likely benign | 21 | 36461147 | 36461147 | Human | | name |
| 152105588 | CV1640789 | single nucleotide variant | NM_001146079.2(CLDN14):c.588C>G (p.Ala196=) | not provided [RCV002096114] | benign | 21 | 36461108 | 36461108 | Human | | name |
| 9691503 | CV176237 | single nucleotide variant | NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001141350]|not provided [RCV003764905]|not specified [RCV000150341] | likely benign | 21 | 36461327 | 36461327 | Human | 1 | name |
| 9687632 | CV176359 | single nucleotide variant | NM_001146079.2(CLDN14):c.471G>A (p.Lys157=) | not provided [RCV000977853]|not specified [RCV000150340] | likely benign | 21 | 36461225 | 36461225 | Human | | name |
| 9689747 | CV176360 | single nucleotide variant | NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001141351]|not provided [RCV000966264]|not specified [RCV000155356] | benign|likely benign|conflicting interpretations of pathogenicity | 21 | 36461396 | 36461396 | Human | 1 | name |
| 9690717 | CV176361 | single nucleotide variant | NM_001146079.2(CLDN14):c.83C>T (p.Pro28Leu) | not provided [RCV005235048]|not specified [RCV000156406] | pathogenic|uncertain significance | 21 | 36461613 | 36461613 | Human | | name |
| 156360654 | CV1898907 | single nucleotide variant | NM_001146079.2(CLDN14):c.603C>A (p.Thr201=) | not provided [RCV003091685] | likely benign | 21 | 36461093 | 36461093 | Human | | name |
| 11090629 | CV231118 | single nucleotide variant | NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=) | not specified [RCV000216296] | likely benign | 21 | 36461201 | 36461201 | Human | | name |
| 11095624 | CV231120 | single nucleotide variant | NM_001146079.2(CLDN14):c.363C>T (p.Gly121=) | CLDN14-related disorder [RCV003937821]|not specified [RCV000222559] | likely benign | 21 | 36461333 | 36461333 | Human | 1 | name , trait , alternate_id |
| 156384859 | CV2371626 | single nucleotide variant | NM_001146079.2(CLDN14):c.92G>A (p.Arg31Gln) | Inborn genetic diseases [RCV002679508] | uncertain significance | 21 | 36461604 | 36461604 | Human | 1 | name |
| 243057676 | CV2404480 | single nucleotide variant | NM_001146079.2(CLDN14):c.77T>A (p.Ile26Asn) | not provided [RCV003129506] | uncertain significance | 21 | 36461619 | 36461619 | Human | | name |
| 243059166 | CV2417208 | single nucleotide variant | NM_001146079.2(CLDN14):c.91C>T (p.Arg31Trp) | not provided [RCV003152079] | uncertain significance | 21 | 36461605 | 36461605 | Human | | name |
| 11545974 | CV257459 | single nucleotide variant | NM_001146079.2(CLDN14):c.450G>A (p.Pro150=) | not provided [RCV005055799]|not specified [RCV000245859] | likely benign | 21 | 36461246 | 36461246 | Human | | name |
| 11641927 | CV274302 | single nucleotide variant | NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV002480050]|not provided [RCV000366051] | conflicting interpretations of pathogenicity|uncertain significance | 21 | 36461375 | 36461375 | Human | 1 | name |
| 405223182 | CV2908409 | deletion | NM_001146079.2(CLDN14):c.203del (p.Arg68fs) | not provided [RCV003568640] | pathogenic | 21 | 36461493 | 36461493 | Human | | name |
| 405222481 | CV3038769 | single nucleotide variant | NM_001146079.2(CLDN14):c.513G>A (p.Ser171=) | not provided [RCV003710178] | likely benign | 21 | 36461183 | 36461183 | Human | | name |
| 405158153 | CV3061526 | single nucleotide variant | NM_001146079.2(CLDN14):c.588C>A (p.Ala196=) | not provided [RCV003726906] | likely benign | 21 | 36461108 | 36461108 | Human | | name |
| 11623857 | CV336755 | single nucleotide variant | NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000378098]|not provided [RCV001580485] | likely benign|uncertain significance | 21 | 36461174 | 36461174 | Human | 1 | name |
| 11626517 | CV346418 | single nucleotide variant | NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000264904]|not provided [RCV005055904] | likely benign|uncertain significance | 21 | 36461246 | 36461246 | Human | 1 | name |
| 11657738 | CV346427 | single nucleotide variant | NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000343853] | uncertain significance | 21 | 36461600 | 36461600 | Human | 1 | name |
| 597853723 | CV3743539 | single nucleotide variant | NM_001146079.2(CLDN14):c.708C>T (p.Asn236=) | not provided [RCV005060889] | likely benign | 21 | 36460988 | 36460988 | Human | | name |
| 597898618 | CV3806977 | single nucleotide variant | NM_001146079.2(CLDN14):c.351T>C (p.Phe117=) | not provided [RCV005152364] | likely benign | 21 | 36461345 | 36461345 | Human | | name |
| 597936518 | CV3852207 | single nucleotide variant | NM_001146079.2(CLDN14):c.486G>A (p.Gln162=) | not provided [RCV005186804] | likely benign | 21 | 36461210 | 36461210 | Human | | name |
| 617150198 | CV4019166 | deletion | NM_001146079.2(CLDN14):c.2_20del (p.Met1fs) | not provided [RCV005423574] | uncertain significance | 21 | 36461676 | 36461694 | Human | | name |
| 8606906 | CV53253 | single nucleotide variant | NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138769]|CLDN14-related disorder [RCV003904910]|not provided [RCV000966676]|not specified [RCV000037061] | benign|uncertain significance | 21 | 36461075 | 36461075 | Human | 1 | name , trait , alternate_id |
| 8606907 | CV53254 | single nucleotide variant | NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138768]|not provided [RCV000711209]|not specified [RCV000037062] | benign | 21 | 36461063 | 36461063 | Human | 1 | name |
| 8606909 | CV53256 | single nucleotide variant | NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000353929]|not provided [RCV002054634]|not specified [RCV000037064] | benign|likely benign | 21 | 36461009 | 36461009 | Human | 1 | name |
| 8606910 | CV53257 | single nucleotide variant | NM_001146079.2(CLDN14):c.690C>T (p.His230=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138766]|not provided [RCV000725000]|not specified [RCV000037065] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 36461006 | 36461006 | Human | 1 | name |
| 14746398 | CV656658 | single nucleotide variant | NM_001146079.2(CLDN14):c.525C>T (p.Leu175=) | not provided [RCV000844408] | likely benign | 21 | 36461171 | 36461171 | Human | | name |
| 8621480 | CV75454 | single nucleotide variant | NM_001146079.2(CLDN14):c.663G>A (p.Arg221=) | not provided [RCV000054676] | uncertain significance | 21 | 36461033 | 36461033 | Human | | name |
| 15159357 | CV757794 | single nucleotide variant | NM_001146079.2(CLDN14):c.591G>A (p.Pro197=) | not provided [RCV000925264] | likely benign | 21 | 36461105 | 36461105 | Human | | name |
| 15189088 | CV773318 | single nucleotide variant | NM_001146079.2(CLDN14):c.606G>C (p.Thr202=) | not provided [RCV000932137] | likely benign | 21 | 36461090 | 36461090 | Human | | name |
| 28889625 | CV886754 | single nucleotide variant | NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138767]|not provided [RCV002559338] | likely benign|uncertain significance | 21 | 36461015 | 36461015 | Human | 1 | name |
| 28896762 | CV886756 | single nucleotide variant | NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001141349] | uncertain significance | 21 | 36461183 | 36461183 | Human | 1 | name |
| 126910388 | CV1053399 | single nucleotide variant | NM_001146079.2(CLDN14):c.169C>T (p.His57Tyr) | Hearing impairment [RCV001375125] | uncertain significance | 21 | 36461527 | 36461527 | Human | 2 | name |
| 151711833 | CV1401427 | single nucleotide variant | NM_001146079.2(CLDN14):c.292G>A (p.Ala98Thr) | Inborn genetic diseases [RCV005320921]|not provided [RCV001964457] | uncertain significance | 21 | 36461404 | 36461404 | Human | 1 | name |
| 151854625 | CV1473632 | single nucleotide variant | NM_001146079.2(CLDN14):c.266T>C (p.Leu89Pro) | not provided [RCV001904532] | uncertain significance | 21 | 36461430 | 36461430 | Human | | name |
| 151786446 | CV1495431 | single nucleotide variant | NM_001146079.2(CLDN14):c.106G>A (p.Val36Met) | not provided [RCV002026765] | uncertain significance | 21 | 36461590 | 36461590 | Human | | name |
| 152153477 | CV1667664 | deletion | NM_001146079.2(CLDN14):c.664del (p.Ala222fs) | Autosomal recessive nonsyndromic hearing loss 29 [RCV002221415] | uncertain significance | 21 | 36461032 | 36461032 | Human | 1 | name |
| 153302251 | CV1688135 | single nucleotide variant | NM_001146079.2(CLDN14):c.156G>A (p.Met52Ile) | not provided [RCV002265361] | uncertain significance | 21 | 36461540 | 36461540 | Human | | name |
| 156396604 | CV1870861 | single nucleotide variant | NM_001146079.2(CLDN14):c.215C>T (p.Ala72Val) | Inborn genetic diseases [RCV004070453]|not provided [RCV003068669] | uncertain significance | 21 | 36461481 | 36461481 | Human | 1 | name |
| 10042023 | CV187219 | single nucleotide variant | NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000169747]|CLDN14-related disorder [RCV003422062]|Hearing impairment [RCV001375151]|not provided [RCV002272154] | pathogenic|likely pathogenic|not provided | 21 | 36461454 | 36461454 | Human | 3 | name , trait , alternate_id |
| 10042024 | CV187220 | single nucleotide variant | NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000169748]|CLDN14-related disorder [RCV003390886] | pathogenic|not provided | 21 | 36461529 | 36461529 | Human | 1 | name , trait , alternate_id |
| 156155488 | CV1987708 | single nucleotide variant | NM_001146079.2(CLDN14):c.181A>T (p.Ile61Phe) | not provided [RCV002642218] | uncertain significance | 21 | 36461515 | 36461515 | Human | | name |
| 8558315 | CV19889 | deletion | NM_001146079.2(CLDN14):c.398del (p.Met133fs) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000005123] | pathogenic | 21 | 36461298 | 36461298 | Human | 1 | name |
| 8596596 | CV19890 | single nucleotide variant | NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000005124]|Hearing impairment [RCV000417186]|Hearing loss, autosomal recessive [RCV001291511] | pathogenic|likely pathogenic | 21 | 36461442 | 36461442 | Human | 4 | name |
| 155976505 | CV2228269 | single nucleotide variant | NM_001146079.2(CLDN14):c.130G>A (p.Val44Met) | Inborn genetic diseases [RCV002732081]|not provided [RCV005242322] | uncertain significance | 21 | 36461566 | 36461566 | Human | 1 | name |
| 155912962 | CV2245701 | single nucleotide variant | NM_001146079.2(CLDN14):c.101C>T (p.Ala34Val) | Inborn genetic diseases [RCV002771818] | uncertain significance | 21 | 36461595 | 36461595 | Human | 1 | name |
| 11092821 | CV231121 | single nucleotide variant | NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) | Vein of Galen aneurysmal malformation [RCV003458356]|not provided [RCV001594877]|not specified [RCV000219015] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 36461511 | 36461511 | Human | 2 | name |
| 405685600 | CV3306586 | single nucleotide variant | NM_001146079.2(CLDN14):c.206C>T (p.Ser69Phe) | Inborn genetic diseases [RCV004444303] | uncertain significance | 21 | 36461490 | 36461490 | Human | 1 | name |
| 11623887 | CV336757 | single nucleotide variant | NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000378498]|not provided [RCV003320632] | uncertain significance | 21 | 36461401 | 36461401 | Human | 1 | name |
| 407572893 | CV3497304 | single nucleotide variant | NM_001146079.2(CLDN14):c.291C>A (p.Cys97Ter) | Hearing loss, autosomal recessive [RCV004699151] | pathogenic | 21 | 36461405 | 36461405 | Human | 2 | name |
| 408384262 | CV3526898 | single nucleotide variant | NM_001146079.2(CLDN14):c.251T>C (p.Met84Thr) | not provided [RCV004772211] | uncertain significance | 21 | 36461445 | 36461445 | Human | | name |
| 597647183 | CV3660256 | single nucleotide variant | NM_001146079.2(CLDN14):c.278T>C (p.Ile93Thr) | Inborn genetic diseases [RCV004973955] | uncertain significance | 21 | 36461418 | 36461418 | Human | 1 | name |
| 597724698 | CV3734554 | single nucleotide variant | NM_001146079.2(CLDN14):c.285C>A (p.Cys95Ter) | Autosomal recessive nonsyndromic hearing loss 29 [RCV005053861] | pathogenic | 21 | 36461411 | 36461411 | Human | 1 | name |
| 597856628 | CV3816604 | single nucleotide variant | NM_001146079.2(CLDN14):c.171C>A (p.His57Gln) | not provided [RCV005146177] | uncertain significance | 21 | 36461525 | 36461525 | Human | | name |
| 598210357 | CV3895078 | single nucleotide variant | NM_001146079.2(CLDN14):c.134C>T (p.Ser45Phe) | Nonsyndromic genetic hearing loss [RCV005358523] | uncertain significance | 21 | 36461562 | 36461562 | Human | 1 | name |
| 13519615 | CV489172 | deletion | NM_001146079.2(CLDN14):c.401del (p.Val134fs) | not provided [RCV000598023] | likely pathogenic | 21 | 36461295 | 36461295 | Human | | name |
| 13838632 | CV590337 | single nucleotide variant | NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000735776] | likely pathogenic | 21 | 36461505 | 36461505 | Human | 1 | name |
| 28901500 | CV886757 | single nucleotide variant | NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001143198] | uncertain significance | 21 | 36461434 | 36461434 | Human | 1 | name |
| 126910812 | CV1053398 | single nucleotide variant | NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) | Autosomal recessive nonsyndromic hearing loss 29 [RCV002493911]|Hearing impairment [RCV001375416]|not provided [RCV002276718] | uncertain significance | 21 | 36461332 | 36461332 | Human | 3 | name |
| 150547589 | CV1292089 | single nucleotide variant | NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001733755]|not provided [RCV002488500] | uncertain significance|no classifications from unflagged records | 21 | 36461173 | 36461173 | Human | 1 | name |
| 150533614 | CV1294278 | single nucleotide variant | NM_001146079.2(CLDN14):c.424G>A (p.Asp142Asn) | not provided [RCV001758296] | uncertain significance | 21 | 36461272 | 36461272 | Human | | name |
| 150548013 | CV1304965 | single nucleotide variant | NM_001146079.2(CLDN14):c.490C>A (p.Leu164Met) | not provided [RCV001764087] | uncertain significance | 21 | 36461206 | 36461206 | Human | | name |
| 151732671 | CV1336405 | single nucleotide variant | NM_001146079.2(CLDN14):c.427G>A (p.Val143Met) | Vein of Galen aneurysmal malformation [RCV001849633]|not provided [RCV003235603] | association|uncertain significance | 21 | 36461269 | 36461269 | Human | 2 | name |
| 151732677 | CV1336406 | single nucleotide variant | NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro) | Vein of Galen aneurysmal malformation [RCV001849634] | association | 21 | 36461359 | 36461359 | Human | 2 | name |
| 151840214 | CV1391386 | single nucleotide variant | NM_001146079.2(CLDN14):c.463G>A (p.Gly155Ser) | not provided [RCV001977594] | uncertain significance | 21 | 36461233 | 36461233 | Human | | name |
| 151736461 | CV1463581 | single nucleotide variant | NM_001146079.2(CLDN14):c.626C>T (p.Pro209Leu) | not provided [RCV001911461] | uncertain significance | 21 | 36461070 | 36461070 | Human | | name |
| 405685606 | CV1667253 | single nucleotide variant | NM_001146079.2(CLDN14):c.361G>A (p.Gly121Ser) | Inborn genetic diseases [RCV004444304] | uncertain significance | 21 | 36461335 | 36461335 | Human | 1 | name |
| 152056681 | CV1670481 | single nucleotide variant | NM_001146079.2(CLDN14):c.347C>T (p.Thr116Ile) | not provided [RCV002226001] | uncertain significance | 21 | 36461349 | 36461349 | Human | | name |
| 152980631 | CV1676032 | single nucleotide variant | NM_001146079.2(CLDN14):c.661C>T (p.Arg221Trp) | not provided [RCV002245101] | uncertain significance | 21 | 36461035 | 36461035 | Human | | name |
| 156169247 | CV1867017 | single nucleotide variant | NM_001146079.2(CLDN14):c.414G>A (p.Trp138Ter) | not provided [RCV002508569] | likely pathogenic | 21 | 36461282 | 36461282 | Human | | name |
| 156170305 | CV1867058 | single nucleotide variant | NM_001146079.2(CLDN14):c.462C>A (p.Ser154Arg) | not provided [RCV002508610] | uncertain significance | 21 | 36461234 | 36461234 | Human | | name |
| 10042025 | CV187221 | single nucleotide variant | NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000169749] | pathogenic|likely pathogenic|not provided | 21 | 36461002 | 36461002 | Human | 1 | name |
| 156155260 | CV1896233 | single nucleotide variant | NM_001146079.2(CLDN14):c.316C>T (p.Arg106Cys) | Inborn genetic diseases [RCV003250763]|not provided [RCV003082690] | uncertain significance | 21 | 36461380 | 36461380 | Human | 1 | name |
| 156020534 | CV1915113 | single nucleotide variant | NM_001146079.2(CLDN14):c.715G>A (p.Val239Met) | Inborn genetic diseases [RCV003161975]|not provided [RCV002636687] | uncertain significance | 21 | 36460981 | 36460981 | Human | 1 | name |
| 156208371 | CV1959471 | single nucleotide variant | NM_001146079.2(CLDN14):c.605C>T (p.Thr202Met) | not provided [RCV002575055] | uncertain significance | 21 | 36461091 | 36461091 | Human | | name |
| 156002079 | CV1987877 | single nucleotide variant | NM_001146079.2(CLDN14):c.512C>T (p.Ser171Leu) | not provided [RCV002618499] | uncertain significance | 21 | 36461184 | 36461184 | Human | | name |
| 8596597 | CV19891 | single nucleotide variant | NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000005125]|not provided [RCV001762034] | pathogenic|likely pathogenic|uncertain significance | 21 | 36461395 | 36461395 | Human | 1 | name |
| 156297716 | CV2069736 | single nucleotide variant | NM_001146079.2(CLDN14):c.343A>G (p.Thr115Ala) | not provided [RCV002833476] | uncertain significance | 21 | 36461353 | 36461353 | Human | | name |
| 156201887 | CV2092534 | single nucleotide variant | NM_001146079.2(CLDN14):c.653A>G (p.Lys218Arg) | not provided [RCV002917816] | uncertain significance | 21 | 36461043 | 36461043 | Human | | name |
| 156156211 | CV2238397 | single nucleotide variant | NM_001146079.2(CLDN14):c.403G>T (p.Ala135Ser) | Inborn genetic diseases [RCV002787201] | uncertain significance | 21 | 36461293 | 36461293 | Human | 1 | name |
| 11090172 | CV231117 | single nucleotide variant | NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr) | not provided [RCV002291596]|not specified [RCV000215729] | uncertain significance | 21 | 36461137 | 36461137 | Human | | name |
| 11095655 | CV231119 | single nucleotide variant | NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000778641]|not provided [RCV001575532]|not specified [RCV000222605] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 21 | 36461208 | 36461208 | Human | 1 | name |
| 156064519 | CV2349835 | single nucleotide variant | NM_001146079.2(CLDN14):c.661C>G (p.Arg221Gly) | Inborn genetic diseases [RCV003000379]|not provided [RCV005054444] | uncertain significance | 21 | 36461035 | 36461035 | Human | 1 | name |
| 401720916 | CV2702191 | single nucleotide variant | NM_001146079.2(CLDN14):c.614C>T (p.Ala205Val) | Inborn genetic diseases [RCV003267404] | uncertain significance | 21 | 36461082 | 36461082 | Human | 1 | name |
| 11639218 | CV271842 | single nucleotide variant | NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile) | CLDN14-related disorder [RCV003967770]|not provided [RCV000317022] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 36461290 | 36461290 | Human | 1 | name , trait , alternate_id |
| 401780118 | CV2725882 | single nucleotide variant | NM_001146079.2(CLDN14):c.416C>T (p.Thr139Ile) | Inborn genetic diseases [RCV003287855] | uncertain significance | 21 | 36461280 | 36461280 | Human | 1 | name |
| 401798125 | CV2739222 | single nucleotide variant | NM_001146079.2(CLDN14):c.397A>G (p.Met133Val) | Inborn genetic diseases [RCV005323411]|not provided [RCV003318870] | uncertain significance | 21 | 36461299 | 36461299 | Human | 1 | name |
| 401961195 | CV2844577 | single nucleotide variant | NM_001146079.2(CLDN14):c.562G>A (p.Glu188Lys) | not provided [RCV003480373] | uncertain significance | 21 | 36461134 | 36461134 | Human | | name |
| 404996307 | CV3172872 | single nucleotide variant | NM_001146079.2(CLDN14):c.622G>A (p.Ala208Thr) | not provided [RCV003882154] | uncertain significance | 21 | 36461074 | 36461074 | Human | | name |
| 405685611 | CV3306587 | single nucleotide variant | NM_001146079.2(CLDN14):c.569C>T (p.Pro190Leu) | Inborn genetic diseases [RCV004444305] | uncertain significance | 21 | 36461127 | 36461127 | Human | 1 | name |
| 405685617 | CV3306588 | single nucleotide variant | NM_001146079.2(CLDN14):c.580T>C (p.Tyr194His) | Inborn genetic diseases [RCV004444306] | uncertain significance | 21 | 36461116 | 36461116 | Human | 1 | name |
| 405685624 | CV3306589 | single nucleotide variant | NM_001146079.2(CLDN14):c.646G>T (p.Ala216Ser) | Inborn genetic diseases [RCV004444307] | uncertain significance | 21 | 36461050 | 36461050 | Human | 1 | name |
| 407462342 | CV3419346 | single nucleotide variant | NM_001146079.2(CLDN14):c.674T>C (p.Val225Ala) | Inborn genetic diseases [RCV004612881]|not provided [RCV004767656] | likely benign|uncertain significance | 21 | 36461022 | 36461022 | Human | 1 | name |
| 407462345 | CV3419347 | single nucleotide variant | NM_001146079.2(CLDN14):c.323C>T (p.Ala108Val) | Inborn genetic diseases [RCV004612882] | uncertain significance | 21 | 36461373 | 36461373 | Human | 1 | name |
| 407462348 | CV3419348 | single nucleotide variant | NM_001146079.2(CLDN14):c.481G>A (p.Gly161Ser) | Inborn genetic diseases [RCV004612883] | uncertain significance | 21 | 36461215 | 36461215 | Human | 1 | name |
| 11655215 | CV346422 | single nucleotide variant | NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000323958] | uncertain significance | 21 | 36461318 | 36461318 | Human | 1 | name |
| 11626464 | CV350644 | single nucleotide variant | NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000263703]|not provided [RCV002523178] | uncertain significance | 21 | 36461109 | 36461109 | Human | 1 | name |
| 11629254 | CV350645 | single nucleotide variant | NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) | Autosomal recessive nonsyndromic hearing loss 29 [RCV000318936] | uncertain significance | 21 | 36461161 | 36461161 | Human | 1 | name |
| 596939908 | CV3550676 | single nucleotide variant | NM_001146079.2(CLDN14):c.660T>A (p.Asn220Lys) | not provided [RCV004814576] | uncertain significance | 21 | 36461036 | 36461036 | Human | | name |
| 597631904 | CV3660254 | single nucleotide variant | NM_001146079.2(CLDN14):c.385G>A (p.Gly129Ser) | Inborn genetic diseases [RCV004967871] | uncertain significance | 21 | 36461311 | 36461311 | Human | 1 | name |
| 597647179 | CV3660255 | single nucleotide variant | NM_001146079.2(CLDN14):c.299T>C (p.Ile100Thr) | Inborn genetic diseases [RCV004973954] | uncertain significance | 21 | 36461397 | 36461397 | Human | 1 | name |
| 597713829 | CV3733059 | single nucleotide variant | NM_001146079.2(CLDN14):c.697T>C (p.Tyr233His) | not provided [RCV005052248] | uncertain significance | 21 | 36460999 | 36460999 | Human | | name |
| 598125867 | CV3885957 | single nucleotide variant | NM_001146079.2(CLDN14):c.441C>A (p.Phe147Leu) | not provided [RCV005241760] | uncertain significance | 21 | 36461255 | 36461255 | Human | | name |
| 598174885 | CV3890938 | single nucleotide variant | NM_001146079.2(CLDN14):c.565G>T (p.Ala189Ser) | not provided [RCV005251791] | uncertain significance | 21 | 36461131 | 36461131 | Human | | name |
| 12899075 | CV410849 | single nucleotide variant | NM_001146079.2(CLDN14):c.317G>A (p.Arg106His) | not provided [RCV000479370] | uncertain significance | 21 | 36461379 | 36461379 | Human | | name |
| 13483063 | CV446315 | single nucleotide variant | NM_001146079.2(CLDN14):c.314C>T (p.Thr105Met) | not provided [RCV000521959] | uncertain significance | 21 | 36461382 | 36461382 | Human | | name |
| 13530221 | CV497530 | single nucleotide variant | NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr) | not specified [RCV000600618] | uncertain significance | 21 | 36461359 | 36461359 | Human | | name |
| 13530369 | CV497788 | single nucleotide variant | NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val) | not specified [RCV000600674] | likely benign | 21 | 36461191 | 36461191 | Human | | name |
| 28889629 | CV886755 | single nucleotide variant | NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001138770] | uncertain significance | 21 | 36461118 | 36461118 | Human | 1 | name |
| 41405871 | CV982228 | single nucleotide variant | NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) | Autosomal recessive nonsyndromic hearing loss 29 [RCV001287748] | uncertain significance | 21 | 36461266 | 36461266 | Human | 1 | name |
| 597724811 | CV3734544 | deletion | NM_001146079.2(CLDN14):c.167_168del (p.Trp56fs) | Autosomal recessive nonsyndromic hearing loss 29 [RCV005053851] | pathogenic | 21 | 36461528 | 36461529 | Human | 1 | name |
| 156022441 | CV2141404 | duplication | NM_001146079.2(CLDN14):c.548_588dup (p.Pro197fs) | not provided [RCV002976219] | pathogenic|uncertain significance | 21 | 36461107 | 36461108 | Human | | name |
| 401946267 | CV2839627 | deletion | NM_001146079.2(CLDN14):c.116_118del (p.Asn39del) | Vein of Galen aneurysmal malformation [RCV003458966] | uncertain significance | 21 | 36461578 | 36461580 | Human | 2 | name |
| 405706415 | CV3225242 | deletion | NM_001146079.2(CLDN14):c.639_645del (p.Ala215fs) | Autosomal recessive nonsyndromic hearing loss 29 [RCV003990296] | uncertain significance | 21 | 36461051 | 36461057 | Human | 1 | name |
| 597724879 | CV3734565 | deletion | NM_001146079.2(CLDN14):c.355_361del (p.Ile119fs) | Autosomal recessive nonsyndromic hearing loss 29 [RCV005053872] | pathogenic | 21 | 36461335 | 36461341 | Human | 1 | name |
| 405126299 | CV3132696 | indel | NM_001146079.2(CLDN14):c.242_243delinsAT (p.Arg81His) | not provided [RCV003837859] | likely pathogenic | 21 | 36461453 | 36461454 | Human | | name |
| 597721021 | CV3733625 | deletion | NM_001146079.2(CLDN14):c.554_556del (p.Cys185_Gln186delinsTer) | Autosomal recessive nonsyndromic hearing loss 29 [RCV005052930] | pathogenic | 21 | 36461140 | 36461142 | Human | 1 | name |
| 126909472 | CV972474 | insertion | NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs) | Sensorineural hearing loss disorder [RCV001353201] | pathogenic | 21 | 36461655 | 36461656 | Human | 2 | name |
