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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
3/11422 0.00013 2 premature_stop 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
1/11422 4.0e-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
1/11422 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
15/9555 0.00078 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
1/9555 5.0e-05 2 acceptor_site Likely pathogenic
View 11 89028352 89028352 C > T TYR NM_000372.4:c.1408C>T
NP_000363.1:p.Gln470Ter
2/9594 0.0001 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
2/9594 0.0001 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
1/9594 5.0e-05 1 frameshift Likely pathogenic
View 11 119216266 119216266 G > - MFRP C1QTNF5 NM_031433.3:c.505del
NM_015645.4:c.-2132del
NP_113621.1:p.His169ThrfsTer23
2/9594 0.0001 2 frameshift 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
7/9594 0.00036 1 Likely pathogenic
View 11 134080196 134080196 T > - NCAPD3 NM_015261.2:c.535del
NP_056076.1:p.Arg179GlyfsTer16
2/9555 0.0001 2 frameshift Likely pathogenic
View 11 134131680 134131680 C > T ACAD8 NM_014384.2:c.988C>T
NP_055199.1:p.Arg330Trp
4/9594 0.00021 1 Likely pathogenic
View 12 4385250 4385250 C > T CCND2 NM_001759.3:c.275C>T
NP_001750.1:p.Pro92Leu
1/9594 5.0e-05 2 non_synonymous Likely pathogenic
View 12 49427851 49427851 T > G KMT2D NM_003482.3:c.10739A>C
NP_003473.3:p.Gln3580Pro
1/9594 5.0e-05 3 non_synonymous Likely pathogenic
View 12 49448687 49448687 A > T KMT2D NM_003482.3:c.172T>A
NP_003473.3:p.Cys58Ser
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View 12 49449106 49449106 A > G KMT2D NM_003482.3:c.2T>C
NP_003473.3:p.Met1?
2/9594 0.0001 2 loss_of_initiation 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
2/9594 0.0001 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
2/11422 9.0e-05 1 Likely pathogenic
View 12 56398270 56398270 G > A SUOX SUOX SUOX NM_000456.2:c.1097G>A
NM_001032386.1:c.1097G>A
NM_001032387.1:c.1097G>A
NP_000447.2:p.Arg366His
NP_001027558.1:p.Arg366His
NP_001027559.1:p.Arg366His
2/11422 9.0e-05 1 Likely pathogenic
View 12 76741292 76741292 G > T BBS10 NM_024685.3:c.473C>A
NP_078961.3:p.Ser158Ter
2/9594 0.0001 1 Likely pathogenic
View 12 88449386 88449386 T > - CEP290 ENST00000552810.1:c.6927del
ENSP00000448012.1:p.Val2310LeufsTer37
2/11422 9.0e-05 2 frameshift Likely pathogenic
View 12 94772743 94772743 G > A CEP83 CEP83 NM_016122.2:c.625C>T
NM_001042399.1:c.625C>T
NP_057206.2:p.Arg209Ter
NP_001035858.1:p.Arg209Ter
8/9594 0.00042 1 Likely pathogenic
View 12 103238203 103238203 A > G PAH ENST00000553106.1:c.976T>C
ENSP00000448059.1:p.Trp326Arg
3/11422 0.00013 3 non_synonymous Likely pathogenic
View 12 112888157 112888157 A > G PTPN11 PTPN11 NM_002834.3:c.173A>G
NM_080601.1:c.173A>G
NP_002825.3:p.Asn58Ser
NP_542168.1:p.Asn58Ser
1/9594 5.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View 12 116435014 116435014 A > T MED13L NM_015335.4:c.2591T>A
NP_056150.1:p.Met864Lys
1/9594 5.0e-05 1 non_synonymous Likely pathogenic
View 12 120241182 120241183 - > G CIT CIT NM_001206999.1:c.1122dupC
NM_007174.2:c.1122dupC
NP_001193928.1:p.Phe375LeufsTer8
NP_009105.1:p.Phe375LeufsTer8
2/9555 0.0001 2 frameshift Likely pathogenic
View 12 120876244 120876244 A > - COX6A1 NM_004373.3:c.167del
NP_004364.2:p.Asn56MetfsTer4
2/9594 0.0001 2 frameshift Likely pathogenic
View 12 121416634 121416640 GAGCAAA > - HNF1A ENST00000541395.1:c.66_72del
ENSP00000443112.1:p.Ser22ArgfsTer3
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 12 123738480 123738480 A > - C12orf65 C12orf65 C12orf65 NM_001194995.1:c.259del
NM_001143905.2:c.259del
NM_152269.4:c.259del
NP_001181924.1:p.Ile87SerfsTer7
NP_001137377.1:p.Ile87SerfsTer7
NP_689482.1:p.Ile87SerfsTer7
2/9594 0.0001 2 frameshift Likely pathogenic
View 13 20763612 20763612 C > T GJB2 NM_004004.5:c.109G>A
NP_003995.2:p.Val37Ile
58/11422 0.00267 1 Likely pathogenic
View 13 20763634 20763636 GAA > - GJB2 NM_004004.5:c.85_87del
NP_003995.2:p.Phe29del
1/11422 4.0e-05 1 Likely pathogenic
View 13 20797557 20797557 C > - GJB6 GJB6 GJB6 GJB6 NM_001110220.2:c.63del
NM_001110221.2:c.63del
NM_006783.4:c.63del
NM_001110219.2:c.63del
NP_001103690.1:p.Lys22ArgfsTer13
NP_001103691.1:p.Lys22ArgfsTer13
NP_006774.2:p.Lys22ArgfsTer13
NP_001103689.1:p.Lys22ArgfsTer13
11/9594 0.00057 1 Likely pathogenic
View 13 23909221 23909222 - > T SACS SACS NM_001278055.1:c.8352dupA
NM_014363.5:c.8793dupA
NP_001264984.1:p.Arg2785ThrfsTer7
NP_055178.3:p.Arg2932ThrfsTer7
3/11422 0.00013 2 frameshift Likely pathogenic
View 13 23912607 23912610 TTTT > - SACS SACS NM_001278055.1:c.4964_4967del
NM_014363.5:c.5405_5408del
NP_001264984.1:p.Lys1655SerfsTer11
NP_055178.3:p.Lys1802SerfsTer11
2/11422 9.0e-05 2 frameshift Likely pathogenic
View 13 25481044 25481044 G > A CENPJ CENPJ CENPJ NM_018451.4:c.1132C>T
NR_047595.1:n.1327C>T
NR_047594.1:n.1327C>T
NP_060921.3:p.Arg378Ter
2/9594 0.0001 2 premature_stop Likely pathogenic
View 13 31803321 31803321 G > T B3GLCT NM_194318.3:c.161-1G>T
30/9594 0.00156 2 acceptor_site Likely pathogenic
View 13 40254136 40254139 CTTA > - COG6 COG6 COG6 NM_001145079.1:c.651_654del
NM_020751.2:c.651_654del
NR_026745.1:n.816_819del
NP_001138551.1:p.Leu217PhefsTer20
NP_065802.1:p.Leu217PhefsTer20
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 13 52548491 52548491 G > A ATP7B ATP7B ATP7B NM_001243182.1:c.802+63C>T
NM_000053.3:c.865C>T
NM_001005918.2:c.865C>T
NP_000044.2:p.Gln289Ter
NP_001005918.1:p.Gln289Ter
1/11765 4.0e-05 1 Likely pathogenic
View 13 52548551 52548552 - > A ATP7B ATP7B ATP7B NM_001243182.1:c.802+2dupT
NM_000053.3:c.804dupT
NM_001005918.2:c.804dupT
NP_000044.2:p.Lys269Ter
NP_001005918.1:p.Lys269Ter
2/11765 8.0e-05 2 donor_site Likely pathogenic
View 13 100953719 100953719 G > T PCCA PCCA PCCA NM_000282.3:c.1071G>T
NM_001178004.1:c.1071G>T
NM_001127692.2:c.993G>T
NP_000273.2:p.Glu357Asp
NP_001171475.1:p.Glu357Asp
NP_001121164.1:p.Glu331Asp
1/11422 9.0e-05 1 non_synonymous found likely homozygous in a patient with clinical biochemical dx of PA Likely pathogenic
View 14 20944591 20944591 G > C PNP NM_000270.3:c.701G>C
NP_000261.2:p.Arg234Pro
2/9594 0.0001 1 Likely pathogenic
View 14 21775896 21775914 CATTAAAGAGAAGGTAGAG > - RPGRIP1 NM_020366.3:c.808_826del
NP_065099.3:p.Ile270Ter
2/9594 0.0001 2 frameshift Likely pathogenic
View 14 21865978 21865978 T > - CHD8 CHD8 NM_020920.3:c.4214+4del
NM_001170629.1:c.5051+4del
1/9594 5.0e-05 3 five_prime_flank Likely pathogenic
View 14 23894999 23894999 G > T MYH7 NM_000257.2:c.2191C>A
NP_000248.2:p.Pro731Thr
1/9594 5.0e-05 1 Likely pathogenic
View 14 45644584 45644585 - > T FANCM NM_020937.2:c.2629dupT
NP_065988.1:p.Ser877PhefsTer4
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 14 50606770 50606770 T > C SOS2 NM_006939.2:c.2675A>G
NP_008870.2:p.Gln892Arg
1/9594 5.0e-05 2 non_synonymous Likely pathogenic
View 14 58895075 58895076 - > C KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.94dupC
NM_001244189.1:c.130dupC
NM_001244190.1:c.49dupC
NM_001244191.1:c.-57+721dupC
NM_001244192.1:c.-57+721dupC
NP_055564.3:p.His32ProfsTer8
NP_001231118.1:p.His44ProfsTer8
NP_001231119.1:p.His17ProfsTer8
4/9555 0.00021 1 Likely pathogenic
View 14 65237814 65237820 GCAGACG > - SPTB SPTB NM_000347.5:c.5581_5587del
NM_001024858.2:c.5581_5587del
NP_000338.3:p.Leu1862GlnfsTer36
NP_001020029.1:p.Leu1862GlnfsTer36
1/9594 5.0e-05 2 frameshift Likely pathogenic
View 14 68234545 68234554 GAGCTGTCTA > - ZFYVE26 ENST00000347230.4:c.5657_5666del
ENSP00000251119.5:p.Leu1886ProfsTer12
2/9594 0.0001 2 frameshift Likely pathogenic
View 14 74531982 74531982 G > - ALDH6A1 BBOF1 ALDH6A1 ALDH6A1 NM_005589.3:c.1306del
NM_025057.2:c.*581del
NM_001278594.1:c.844del
NM_001278593.1:c.1267del
NP_005580.1:p.Gln436ArgfsTer3
NP_001265523.1:p.Gln282ArgfsTer3
NP_001265522.1:p.Gln423ArgfsTer3
2/9939 0.0001 2 frameshift Likely pathogenic
Displaying 50 through 100 of 344 variants