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| No. | Name | SIFT/PolyPhen | Clinical significance (last reviewed) | dbSNP ID | GMAF | Type | Family No. |
|
| 1 | NM_000055.2 (BCHE):c.293A>G (p.Asp98Gly) | Deleterious (0.01)/possibly damaging (0.511) | Pathogenic/likely pathogenic (last reviewed: May 29, 2020) | rs1799807 | 0.00599 (C) | Missense variant | 1 |
| 2 | NM_019000.4 (RETREG1):c.503C>G (p.Ser168Ter) | -/- | Pathogenic (last reviewed: Jun 3, 2020) | rs137852739 | 0.00020 (A) | Stop gained | 1; 2; 3; 4 |
| 3 | NM_004646.3 (NPHS1):c.2869G>A (p.Val957Met) | Deleterious (0.02)/probably damaging (0.995) | Likely pathogenic (last reviewed: May 25, 2018) | rs114849139 | 0.00280 (G) | Missense variant | 2 |
| 4 | NM_017882.3 (CLN6):c.307C>T (p.Arg103Trp) | Deleterious (0)/probably damaging (0.999) | Conflicting interpretations of pathogenicity (last reviewed: Sep 21, 2020) | rs201095412 | 0.00020 (A) | Missense variant | 4 |
| 5 | NM_000256.3 (MYBPC3):c.649A>G (p.Ser217Gly) | Deleterious (0.01)/possibly damaging (0.541) | Conflicting interpretations of pathogenicity (last reviewed: Sep 20, 2021) | rs138753870 | 0.00180 (C) | Missense variant | 4 |
| 6 | NM_000369.5 (TSHR):c.1349G>A (p.Arg450His) | Deleterious (0)/probably damaging (0.999) | Conflicting interpretations of pathogenicity (last reviewed: Sep 1, 2021) | rs189261858 | 0.00020 (A) | Missense variant | 4 |
| 7 | NM_003122.4 (SPINK1):c.194+2T>C | -/- | Conflicting interpretations of pathogenicity (last reviewed: Oct 7, 2020) | rs148954387 | 0.00080 (G) | Splice donor variant | 3 |
| 8 | NM_000036.3 (AMPD1):c.860A>T (p.Lys287Ile) | Deleterious (0)/probably damaging (1) | Conflicting interpretations of pathogenicity (last reviewed: Oct 31, 2018) | rs34526199 | 0.01098 (A) | Missense variant | 1; 4 |
| 9 | NM_020631.5 (PLEKHG5):c.2485G>T (p.Asp829Tyr) | Deleterious (0)/possibly damaging (0.876) | Conflicting interpretations of pathogenicity (last reviewed: Oct 29, 2020) | rs200162521 | 0.00020 (A) | Missense variant | 1 |
| 10 | NM_000540.3 (RYR1):c.9713A>G (p.Glu3238Gly) | Deleterious (0.01)/possibly damaging (0.503) | Conflicting interpretations of pathogenicity (last reviewed: Nov 3, 2020) | rs200950673 | 0.00020 (G) | Missense variant | 4 |
| 11 | NM_001849.4 (COL6A2):c.2795C>T | Tolerated (0.23)/benign (0.041) | Conflicting interpretations of pathogenicity (last reviewed: Nov 27, 2020) | rs117725825 | 0.00160 (T) | Missense variant | 4 |
| 12 | NM_000335.5 (SCN5A):c.4821C>T (p.Leu1607=) | -/- | Conflicting interpretations of pathogenicity (last reviewed: Nov 25, 2020) | rs45437099 | 0.00100 (A) | Synonymous variant | 3; 4 |
| 13 | NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) | -/benign (0.151) | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs56347248 | 0.00599 (C) | Missense variant | 3 |
| 14 | NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) | -/benign (0.018) | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs55669553 | 0.00599 (T) | Missense variant | 3 |
| 15 | NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) | -/probably damaging (0.998) | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs191484894 | 0.00599 (A) | Missense variant | 3 |
| 16 | NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) | -/probably damaging (0.998) | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs149567378 | 0.00619 (T) | Missense variant | 3 |
| 17 | NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) | -/probably damaging (0.997) | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs56264840 | 0.00579 (T) | Missense variant | 3 |
| 18 | NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) | -/probably damaging (0.991) | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs55663050 | 0.00599 (G) | Missense variant | 3 |
| 19 | NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) | -/benign (0.15) | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs146181477 | 0.00599 (T) | Missense variant | 3 |
| 20 | NM_001267550.2(TTN):c.1137A>G (p.Arg379=) | -/- | Conflicting interpretations of pathogenicity (last reviewed: Nov 21, 2020) | rs55972547 | 0.00599 (C) | Synonymous variant | 3 |
| 21 | NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) | Tolerated (0.4)/possibly damaging (0.795) | Conflicting interpretations of pathogenicity (last reviewed: Nov 18, 2020) | rs76064926 | 0.00719 (T) | Missense variant | 3 |
| 22 | NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) | Tolerated (0.12)/benign (0.039) | Conflicting interpretations of pathogenicity (last reviewed: May 5, 2021) | rs137852776 | 0.00180 (C) | Missense variant | 3 |
| 23 | NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) | Deleterious (0.01)/probably damaging (1) | Conflicting interpretations of pathogenicity (last reviewed: May 30, 2019) | rs41273519 | 0.00160 (A) | Missense variant | 4 |
| 24 | NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) | Deleterious (0.09)/probably damaging (0.999) | Conflicting interpretations of pathogenicity (last reviewed: May 18, 2021) | rs35686968 | 0.00719 (G) | Missense variant | 3 |
| 25 | NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) | Deleterious (0)/probably damaging (0.991) | Conflicting interpretations of pathogenicity (last reviewed: May 18, 2021) | rs41272687 | 0.00859 (T) | Missense variant | 3 |
| 26 | NM_000237.3(LPL):c.953A>G (p.Asn318Ser) | Tolerated (0.24)/benign (0.137) | Conflicting interpretations of pathogenicity (last reviewed: May 18, 2021) | rs268 | 0.00519 (G) | Missense variant | 1 |
| 27 | NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) | Tolerated (0.55)/benign (0) | Conflicting interpretations of pathogenicity (last reviewed: May 18, 2021) | rs11466045 | 0.00439 (G) | Missense variant | 1 |
| 28 | NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) | Deleterious (0)/benign (0.116) | Conflicting interpretations of pathogenicity (last reviewed: May 14, 2018) | rs104895456 | 0.00020 (A) | Missense variant | 4 |
| 29 | NM_014588.5(VSX1):c.479G>A (p.Gly160Asp) | Tolerated (0.3)/benign (0.156) | Conflicting interpretations of pathogenicity (last reviewed: Mar 6, 2018) | rs74315433 | 0.00260 (A) | Missense variant | 4 |
| 30 | NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala) | Deleterious (0)/benign (0.161) | Conflicting interpretations of pathogenicity (last reviewed: Mar 19, 2021) | rs201738818 | 0.00120 (G) | Missense variant | 2 |
| 31 | NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) | Deleterious (0)/probably damaging (0.948) | Conflicting interpretations of pathogenicity (last reviewed: Jun 1, 2021) | rs1800361 | 0.00260 (A) | Missense variant | 2 |
| 32 | NM_006432.4(NPC2):c.441+1G>A | -/- | Conflicting interpretations of pathogenicity (last reviewed: Jun 1, 2021) | rs140130028 | 0.00100 (T) | Splice donor variant | 3; 4 |
| 33 | NM_000492.4(CFTR):c.1584G>A (p.Glu528=) | -/- | Conflicting interpretations of pathogenicity (last reviewed: Jul 22, 2021) | rs1800095 | 0.01058 (A) | Synonymous variant | 4 |
| 34 | NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) | -/probably damaging (0.926) | Conflicting interpretations of pathogenicity (last reviewed: Jul 1, 2021) | rs72648923 | 0.00180 (T) | Missense variant | 2 |
| 35 | NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) | Tolerated (0.52)/benign (0.005) | Conflicting interpretations of pathogenicity (last reviewed: Jul 1, 2021) | rs141918432 | 0.00100 (G) | Missense variant | 4 |
| 36 | NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) | -/- | Conflicting interpretations of pathogenicity (last reviewed: Jan 1, 2021) | rs35744605 | 0.00140 (A) | Stop gained | 1 |
| 37 | NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) | -/benign (0.068) | Conflicting interpretations of pathogenicity (last reviewed: Feb 4, 2021) | rs72677242 | 0.00160 (A) | Missense variant | 2 |
| 38 | NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) | Deleterious (0.01)/probably damaging (0.995) | Conflicting interpretations of pathogenicity (last reviewed: Dec 7, 2020) | rs45509392 | 0.00040 (A) | Missense variant | 2 |
| 39 | NM_000371.4(TTR):c.417G>A (p.Thr139=) | -/- | Conflicting interpretations of pathogenicity (last reviewed: Dec 7, 2020) | rs2276382 | 0.00359 (A) | Synonymous variant | 1 |
| 40 | NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) | -/- | Conflicting interpretations of pathogenicity (last reviewed: Dec 6, 2020) | rs72646867 | 0.00160 (A) | Synonymous variant | 2 |
| 41 | NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) | Tolerated (0.33)/benign (0.169) | Conflicting interpretations of pathogenicity (last reviewed: Dec 6, 2020) | rs137853960 | 0.00060 (A) | Missense variant | 1 |
| 42 | NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) | Deleterious (0)/probably damaging [1] | Conflicting interpretations of pathogenicity (last reviewed: Dec 31, 2019) | rs139131485 | 0.00080 (A) | Missense variant | 1 |
| 43 | NM_005634.2(SOX3):c.157G>C (p.Val53Leu) | Tolerated (0.11)/benign (0.001) | Conflicting interpretations of pathogenicity (last reviewed: Dec 31, 2019) | rs200361128 | 0.00265 (G) | Missense variant | 4 |
| 44 | NM_000065.4(C6):c.2381+2T>C | -/- | Conflicting interpretations of pathogenicity (last reviewed: Dec 22, 2017) | rs76202909 | 0.00120 (G) | Splice donor variant | 1 |
| 45 | NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) | Tolerated (0.4)/possibly damaging (0.862) | Conflicting interpretations of pathogenicity (last reviewed: Dec 2, 2020) | rs72552027 | 0.00319 (A) | Missense variant | 2 |
| 46 | NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) | Deleterious (0.01)/benign (0.393) | Conflicting interpretations of pathogenicity (last reviewed: Aug 6, 2020) | rs62619919 | 0.00539 (T) | Missense variant | 4 |
| 47 | NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) | Deleterious (0.03)/probably damaging (0.928) | Conflicting interpretations of pathogenicity (last reviewed: Aug 6, 2020) | rs61733968 | 0.00439 (G) | Missense variant | 4 |
| 48 | NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) | Tolerated (0.09)/possibly damaging (0.621) | Conflicting interpretations of pathogenicity (last reviewed: Apr 20, 2021) | rs74653330 | 0.00799 (T) | Missense variant | 1;3 |
| 49 | NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) | Deleterious (0)/probably damaging (0.93) | Conflicting interpretations of pathogenicity (last reviewed: Apr 13, 2021) | rs116998555 | 0.00319 (T) | Missense variant | 1; 2;3; 4 |
| 50 | NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) | Tolerated (0.07)/benign (0) | Benign/likely benign (last reviewed: Dec 31, 2019) | rs61748381 | 0.00477 (A) | Missense variant | 4 |
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