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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 10 79761985 79761991 GGCTGTT > - POLR3A NM_007055.3:c.2323_2329del
NP_008986.2:p.Asn775ProfsTer19
4/13144 0.00015 2 frameshift Likely pathogenic
View 10 94409684 94409684 C > T KIF11 NM_004523.3:c.2863C>T
NP_004514.2:p.Gln955Ter
2/13144 8.0e-05 1 Likely pathogenic
View 10 97445342 97445342 C > A TCTN3 TCTN3 NM_015631.5:c.940G>T
NM_001143973.1:c.651+910G>T
NP_056446.4:p.Gly314Ter
3/13144 0.00011 2 Likely pathogenic
View 10 101489371 101489371 G > A COX15 COX15 NM_004376.5:c.211C>T
NM_078470.4:c.211C>T
NP_004367.2:p.Arg71Ter
NP_510870.1:p.Arg71Ter
1/14969 3.0e-05 2 premature_stop Likely pathogenic
View 10 102506065 102506065 G > T PAX2 PAX2 PAX2 ENST00000355243.3:c.43+5G>T
NM_003988.3:c.43+5G>T
ENST00000428433.1:c.43+5G>T
5/11983 0.00021 2 curation Likely pathogenic
View 10 135180494 135180494 G > A ECHS1 NM_004092.3:c.518C>T
NP_004083.3:p.Ala173Val
13/13144 0.00057 2 curation Likely pathogenic
View 11 686901 686901 C > G DEAF1 NM_021008.2:c.761G>C
NP_066288.2:p.Arg254Thr
1/13144 4.0e-05 2 non_synonymous Likely pathogenic
View 11 1457308 1457308 A > - BRSK2 BRSK2 BRSK2 BRSK2 BRSK2 BRSK2 NM_001256630.1:c.269del
NM_003957.3:c.131del
NR_046332.1:n.504del
NM_001256629.1:c.131del
NM_001256627.1:c.131del
NR_046331.1:n.517del
NP_001243559.1:p.Lys90ArgfsTer17
NP_003948.2:p.Lys44ArgfsTer17
NP_001243558.1:p.Lys44ArgfsTer17
NP_001243556.1:p.Lys44ArgfsTer17
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 11 2193086 2193086 C > T 3/13771 0.00011 1 Likely pathogenic
View 11 5248301 5248301 T > G HBB NM_000518.4:c.-50A>C
2/13771 7.0e-05 1 Likely pathogenic
View 11 6412770 6412770 T > C SMPD1 SMPD1 NM_000543.4:c.475T>C
NM_001007593.2:c.472T>C
NP_000534.3:p.Cys159Arg
NP_001007594.2:p.Cys158Arg
2/14969 7.0e-05 1 Likely pathogenic
View 11 6413349 6413349 G > T SMPD1 SMPD1 NM_000543.4:c.1054G>T
NM_001007593.2:c.1051G>T
NP_000534.3:p.Glu352Ter
NP_001007594.2:p.Glu351Ter
4/14969 0.00013 1 ClinVar pathogenic variant Likely pathogenic
View 11 9171698 9171698 G > A DENND5A DENND5A NM_015213.3:c.2665C>T
NM_001243254.1:c.2665C>T
NP_056028.2:p.Arg889Ter
NP_001230183.1:p.Arg889Ter
5/13144 0.00019 2 premature_stop Likely pathogenic
View 11 17596437 17596437 C > T OTOG NM_001277269.1:c.2500C>T
NP_001264198.1:p.Gln834Ter
14/13144 0.00053 1 Likely pathogenic
View 11 22239825 22239825 C > T ANO5 ANO5 NM_213599.2:c.172C>T
NM_001142649.1:c.169C>T
NP_998764.1:p.Arg58Trp
NP_001136121.1:p.Arg57Trp
6/13144 0.00023 1 Likely pathogenic
View 11 36596859 36596859 G > A RAG1 ENST00000299440.5:c.2005G>A
ENSP00000299440.5:p.Glu669Lys
1/14969 3.0e-05 1 Likely pathogenic
View 11 57569278 57569278 C > T CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 TMX2-CTNND1 ENST00000358694.6:c.1030C>T
ENST00000361332.4:c.1030C>T
ENST00000530094.1:c.727C>T
ENST00000528232.1:c.727C>T
ENST00000532463.1:c.727C>T
ENST00000399050.4:c.1030C>T
ENST00000426142.2:c.727C>T
ENST00000532787.1:c.727C>T
ENST00000415361.2:c.727C>T
ENST00000526357.1:c.868C>T
ENST00000529873.1:c.868C>T
ENST00000428599.2:c.1030C>T
ENST00000532245.1:c.727C>T
ENST00000532649.1:c.868C>T
ENST00000529986.1:c.727C>T
ENST00000528621.1:c.868C>T
ENST00000530748.1:c.868C>T
ENST00000532844.1:c.868C>T
ENST00000361391.6:c.1030C>T
ENST00000361796.4:c.1030C>T
ENST00000529526.1:c.868C>T
NR_037646.1:n.1589C>T
ENSP00000351527.6:p.Arg344Ter
ENSP00000354823.4:p.Arg344Ter
ENSP00000437327.1:p.Arg243Ter
ENSP00000435266.1:p.Arg243Ter
ENSP00000432075.1:p.Arg243Ter
ENSP00000382004.4:p.Arg344Ter
ENSP00000409930.2:p.Arg243Ter
ENSP00000434949.1:p.Arg243Ter
ENSP00000403518.2:p.Arg243Ter
ENSP00000433334.1:p.Arg290Ter
ENSP00000435494.1:p.Arg290Ter
ENSP00000413586.2:p.Arg344Ter
ENSP00000434017.1:p.Arg243Ter
ENSP00000435379.1:p.Arg290Ter
ENSP00000437156.1:p.Arg243Ter
ENSP00000432243.1:p.Arg290Ter
ENSP00000436744.1:p.Arg290Ter
ENSP00000433276.1:p.Arg290Ter
ENSP00000354785.6:p.Arg344Ter
ENSP00000354907.4:p.Arg344Ter
ENSP00000436323.1:p.Arg290Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 11 61160688 61160702 GTGCTCCTTTTTCAG > - TMEM216 TMEM216 TMEM216 NM_001173990.2:c.35-13_36del
NM_001173991.2:c.35-13_36del
NM_016499.5:c.-149-13_-148del
3/11983 0.00013 2 acceptor_site Likely pathogenic
View 11 65318944 65318944 G > A LTBP3 LTBP3 LTBP3 NM_021070.4:c.1550C>T
NM_001130144.2:c.1550C>T
NM_001164266.1:c.1199C>T
NP_066548.2:p.Pro517Leu
NP_001123616.1:p.Pro517Leu
NP_001157738.1:p.Pro400Leu
4/13144 0.00015 2 curation Likely pathogenic
View 11 67377861 67377861 C > T NDUFV1 NDUFV1 NM_007103.3:c.520C>T
NM_001166102.1:c.493C>T
NP_009034.2:p.Arg174Ter
NP_001159574.1:p.Arg165Ter
3/14969 0.0001 2 premature_stop Likely pathogenic
View 11 68703731 68703731 C > T IGHMBP2 NM_002180.2:c.1783C>T
NP_002171.2:p.Arg595Trp
4/14969 0.00013 1 Likely pathogenic
View 11 68704488 68704488 A > - IGHMBP2 NM_002180.2:c.2540del
NP_002171.2:p.Gln847ArgfsTer131
1/14969 3.0e-05 2 frameshift Likely pathogenic
View 11 69633505 69633505 C > G FGF3 NM_005247.2:c.197G>C
NP_005238.1:p.Gly66Ala
3/13144 0.00015 2 curation Likely pathogenic
View 11 71150074 71150074 G > A DHCR7 DHCR7 NM_001163817.1:c.682C>T
NM_001360.2:c.682C>T
NP_001157289.1:p.Arg228Trp
NP_001351.2:p.Arg228Trp
1/14969 3.0e-05 1 Likely pathogenic
View 11 76924904 76924904 G > A MYO7A MYO7A NM_000260.3:c.6439-1G>A
NM_001127180.1:c.6319-1G>A
1/13810 4.0e-05 1 Likely pathogenic
View 11 85347215 85347215 G > T TMEM126B TMEM126B TMEM126B TMEM126B TMEM126B NM_018480.4:c.635G>T
NM_001193538.2:c.545G>T
NM_001193537.2:c.575G>T
NM_001256546.1:c.545G>T
NM_001256547.1:c.497G>T
NP_060950.3:p.Gly212Val
NP_001180467.1:p.Gly182Val
NP_001180466.1:p.Gly192Val
NP_001243475.1:p.Gly182Val
NP_001243476.1:p.Gly166Val
24/13105 0.00092 1 Likely pathogenic
View 11 86017286 86017286 G > T HIKESHI HIKESHI HIKESHI HIKESHI NR_024597.1:n.268+3766G>T
NR_024596.1:n.106-1G>T
NM_016401.3:c.31-1G>T
NR_024598.1:n.268+3766G>T
1/11944 4.0e-05 2 acceptor_site Likely pathogenic
View 11 89028352 89028352 C > T TYR NM_000372.4:c.1408C>T
NP_000363.1:p.Gln470Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 11 110134684 110134684 C > T RDX RDX RDX RDX RDX RDX NM_001260492.1:c.467+1G>A
NM_001260493.1:c.467+1G>A
NM_001260494.1:c.60-5770G>A
NM_002906.3:c.467+1G>A
NM_001260495.1:c.-83+15722G>A
NM_001260496.1:c.371+1G>A
2/11983 8.0e-05 2 donor_site Likely pathogenic
View 11 118374265 118374266 - > A KMT2A KMT2A NM_001197104.1:c.7659dupA
NM_005933.3:c.7650dupA
NP_001184033.1:p.Glu2554ArgfsTer13
NP_005924.2:p.Glu2551ArgfsTer13
1/13144 4.0e-05 1 curation Likely pathogenic
View 11 118375976 118375977 - > G KMT2A KMT2A NM_001197104.1:c.9370dupG
NM_005933.3:c.9361dupG
NP_001184033.1:p.Val3124GlyfsTer30
NP_005924.2:p.Val3121GlyfsTer30
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 11 118895981 118895981 A > G SLC37A4 SLC37A4 SLC37A4 SLC37A4 SLC37A4 ENST00000357590.5:c.1109T>C
ENST00000538950.1:c.824T>C
NM_001164280.1:c.1044T>C
ENST00000330775.7:c.1106T>C
ENST00000545985.1:c.1043T>C
ENSP00000476176.1:p.Leu370Pro
ENSP00000475991.1:p.Leu275Pro
NP_001157752.1:p.Pro348=
ENSP00000476242.1:p.Leu369Pro
ENSP00000475241.1:p.Leu348Pro
4/14969 0.00013 1 Likely pathogenic
View 11 119216266 119216266 G > - MFRP C1QTNF5 NM_031433.3:c.505del
NM_015645.4:c.-2132del
NP_113621.1:p.His169ThrfsTer23
2/13144 8.0e-05 1 Likely pathogenic
View 11 126144895 126144896 - > GAGT FOXRED1 FOXRED1 FOXRED1 NM_017547.3:c.612_615dupAGTG
NR_037648.1:n.798_801dupAGTG
NR_037647.1:n.558_561dupAGTG
NP_060017.1:p.Ala206SerfsTer15
10/13144 0.00038 1 Likely pathogenic
View 11 134080196 134080196 T > - NCAPD3 NM_015261.2:c.535del
NP_056076.1:p.Arg179GlyfsTer16
2/13105 8.0e-05 2 frameshift Likely pathogenic
View 11 134131680 134131680 C > T ACAD8 NM_014384.2:c.988C>T
NP_055199.1:p.Arg330Trp
4/13144 0.00015 1 Likely pathogenic
View 12 4385250 4385250 C > T CCND2 NM_001759.3:c.275C>T
NP_001750.1:p.Pro92Leu
1/13144 4.0e-05 2 curation Likely pathogenic
View 12 4626311 4626311 G > A C12orf4 NM_020374.2:c.1078C>T
NP_065107.1:p.Arg360Ter
2/13144 8.0e-05 2 premature_stop Likely pathogenic
View 12 5021464 5021464 G > A KCNA1 NM_000217.2:c.920G>A
NP_000208.2:p.Arg307His
2/13144 8.0e-05 1 non_synonymous Likely pathogenic
View 12 6122802 6122802 A > G VWF ENST00000261405.5:c.5465T>C
ENSP00000261405.5:p.Val1822Ala
3/13144 0.00011 1 Likely pathogenic
View 12 21614026 21614026 G > - PYROXD1 NM_024854.3:c.818del
NP_079130.2:p.Arg273LysfsTer3
1/13105 4.0e-05 2 frameshift Likely pathogenic
View 12 48369298 48369298 C > A COL2A1 COL2A1 NM_033150.2:c.3481G>T
NM_001844.4:c.3688G>T
NP_149162.2:p.Glu1161Ter
NP_001835.3:p.Glu1230Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 12 48371158 48371158 G > - COL2A1 COL2A1 NM_033150.2:c.3011del
NM_001844.4:c.3218del
NP_149162.2:p.Pro1004LeufsTer57
NP_001835.3:p.Pro1073LeufsTer57
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 12 48387772 48387772 C > T COL2A1 COL2A1 NM_033150.2:c.663+5G>A
NM_001844.4:c.870+5G>A
1/11983 4.0e-05 2 Likely pathogenic
View 12 49427851 49427851 T > G KMT2D NM_003482.3:c.10739A>C
NP_003473.3:p.Gln3580Pro
1/13144 4.0e-05 3 non_synonymous Likely pathogenic
View 12 49448687 49448687 A > T KMT2D NM_003482.3:c.172T>A
NP_003473.3:p.Cys58Ser
1/13144 4.0e-05 1 curation Likely pathogenic
View 12 49449106 49449106 A > G KMT2D NM_003482.3:c.2T>C
NP_003473.3:p.Met1?
2/13144 8.0e-05 2 loss_of_initiation Likely pathogenic
View 12 50348462 50348463 - > T AQP2 ENST00000199280.3:c.576dupT
ENSP00000199280.3:p.Val193CysfsTer7
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 12 52184263 52184263 C > A SCN8A SCN8A NM_014191.3:c.4501C>A
NM_001177984.2:c.4378C>A
NP_055006.1:p.Gln1501Lys
NP_001171455.1:p.Gln1460Lys
2/13144 8.0e-05 3 non_synonymous Likely pathogenic
View 12 53702942 53702942 G > A AAAS AAAS NM_001173466.1:c.835C>T
NM_015665.5:c.934C>T
NP_001166937.1:p.Arg279Ter
NP_056480.1:p.Arg312Ter
2/14969 7.0e-05 1 Likely pathogenic
Displaying 50 through 100 of 530 variants