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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
1/6955 7.0e-05 2 frameshift Likely pathogenic
View 14 68234545 68234554 GAGCTGTCTA > - ZFYVE26 ENST00000347230.4:c.5657_5666del
ENSP00000251119.5:p.Leu1886ProfsTer12
2/6955 0.00014 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
2/7166 0.00014 2 frameshift Likely pathogenic
View 14 88401223 88401223 C > T GALC GALC ENST00000261304.2:c.1912-1G>A
ENST00000393569.2:c.1834-1G>A
1/8745 6.0e-05 2 acceptor_site Likely pathogenic
View 14 88407758 88407759 - > T GALC GALC ENST00000261304.2:c.1814dupA
ENST00000393569.2:c.1736dupA
ENSP00000261304.2:p.Tyr605Ter
ENSP00000377199.2:p.Tyr579Ter
2/8745 0.00011 2 premature_stop Likely pathogenic
View 15 40501845 40501845 C > - BUB1B ENST00000287598.6:c.2153del
ENSP00000287598.6:p.Thr718IlefsTer14
1/6955 7.0e-05 2 frameshift Likely pathogenic
View 15 40917591 40917592 - > T KNL1 KNL1 NM_144508.4:c.5130dupT
NM_170589.4:c.5208dupT
NP_653091.3:p.Ile1711TyrfsTer3
NP_733468.3:p.Ile1737TyrfsTer3
2/6955 0.00014 2 frameshift Likely pathogenic
View 15 57526310 57526310 G > A TCF12 TCF12 TCF12 TCF12 TCF12 NM_207040.1:c.525+5G>A
NM_003205.3:c.1035+5G>A
NM_207038.1:c.1035+5G>A
NM_207037.1:c.1035+5G>A
NM_207036.1:c.1035+5G>A
1/6955 7.0e-05 2 five_prime_flank Likely pathogenic
View 15 72978570 72978570 T > C BBS4 BBS4 BBS4 NR_045566.1:n.51T>C
NR_045565.1:n.51T>C
ENST00000268057.4:c.2T>C
ENSP00000268057.4:p.Met1?
2/6955 0.00014 2 loss_of_initiation Likely pathogenic
View 15 89872286 89872286 A > C POLG POLG NM_001126131.1:c.911T>G
NM_002693.2:c.911T>G
NP_001119603.1:p.Leu304Arg
NP_002684.1:p.Leu304Arg
1/8745 6.0e-05 1 Likely pathogenic
View 15 91550240 91550240 C > A VPS33B NM_018668.3:c.640G>T
NP_061138.3:p.Glu214Ter
1/8745 6.0e-05 2 premature_stop Likely pathogenic
View 15 99486226 99486227 - > G IGF1R NM_000875.3:c.3534dupG
NP_000866.1:p.Met1179AspfsTer4
1/6955 7.0e-05 2 frameshift Likely pathogenic
View 15 101120526 101120526 A > - LINS1 ENST00000314742.8:c.431del
ENSP00000318423.8:p.Leu144TyrfsTer17
3/6955 0.00022 2 frameshift Likely pathogenic
View 16 2131781 2131782 - > T TSC2 TSC2 TSC2 NM_000548.3:c.3797dupT
NM_001114382.1:c.3797dupT
NM_001077183.1:c.3665dupT
NP_000539.2:p.Pro1267AlafsTer55
NP_001107854.1:p.Pro1267AlafsTer32
NP_001070651.1:p.Pro1223AlafsTer32
2/6955 0.00014 1 ClinVar pathogenic variant Likely pathogenic
View 16 2546994 2546994 C > G TBC1D24 TBC1D24 NM_020705.2:c.845C>G
NM_001199107.1:c.845C>G
NP_065756.1:p.Pro282Arg
NP_001186036.1:p.Pro282Arg
5/6955 0.00036 1 Likely pathogenic
View 16 3786691 3786691 A > G CREBBP CREBBP NM_001079846.1:c.4406T>C
NM_004380.2:c.4520T>C
NP_001073315.1:p.Leu1469Pro
NP_004371.2:p.Leu1507Pro
1/6955 7.0e-05 2 Likely pathogenic
View 16 8906851 8906851 G > A PMM2 NM_000303.2:c.527G>A
NP_000294.1:p.Gly176Asp
3/8745 0.00017 1 Likely pathogenic
View 16 9892232 9892232 C > G GRIN2A GRIN2A GRIN2A NM_001134408.1:c.2258G>C
NM_001134407.1:c.2258G>C
NM_000833.3:c.2258G>C
NP_001127880.1:p.Gly753Ala
NP_001127879.1:p.Gly753Ala
NP_000824.1:p.Gly753Ala
1/6955 7.0e-05 1 non_synonymous Likely pathogenic
View 16 9923392 9923392 G > A GRIN2A GRIN2A GRIN2A NM_001134408.1:c.1895C>T
NM_001134407.1:c.1895C>T
NM_000833.3:c.1895C>T
NP_001127880.1:p.Ser632Phe
NP_001127879.1:p.Ser632Phe
NP_000824.1:p.Ser632Phe
1/6955 7.0e-05 2 non_synonymous Likely pathogenic
View 16 14022053 14022053 T > - ERCC4 NM_005236.2:c.755del
NP_005227.1:p.Leu252TyrfsTer3
2/8745 0.00011 2 frameshift Likely pathogenic
View 16 23555998 23555998 G > A EARS2 EARS2 NR_003501.1:n.354C>T
NM_001083614.1:c.322C>T
NP_001077083.1:p.Arg108Trp
7/6955 0.0005 1 Likely pathogenic
View 16 53671640 53671640 C > A RPGRIP1L RPGRIP1L NM_001127897.1:c.3085G>T
NM_015272.2:c.3187G>T
NP_001121369.1:p.Glu1029Ter
NP_056087.2:p.Glu1063Ter
2/8745 0.00011 2 premature_stop Likely pathogenic
View 16 56388883 56388883 A > G GNAO1 NM_020988.2:c.983A>G
NP_066268.1:p.Asp328Gly
1/6955 7.0e-05 1 non_synonymous Likely pathogenic
View 16 56530925 56530925 G > A BBS2 ENST00000245157.5:c.1864C>T
ENSP00000245157.5:p.Arg622Ter
1/6955 7.0e-05 1 Likely pathogenic
View 16 88873798 88873798 G > A CDT1 NM_030928.3:c.1385G>A
NP_112190.2:p.Arg462Gln
1/6955 7.0e-05 1 Likely pathogenic
View 16 89167117 89167117 C > T ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 NR_023316.2:n.185-1895C>T
NM_174917.3:c.28C>T
NM_001127214.2:c.28C>T
NR_045666.1:n.405C>T
NM_001243279.1:c.28C>T
NP_777577.2:p.Arg10Trp
NP_001120686.1:p.Arg10Trp
NP_001230208.1:p.Arg10Trp
4/6955 0.00029 3 non_synonymous Likely pathogenic
View 16 89350772 89350775 TTTG > - ANKRD11 ANKRD11 ANKRD11 NM_013275.5:c.2175_2178del
NM_001256182.1:c.2175_2178del
NM_001256183.1:c.2175_2178del
NP_037407.4:p.Asn725LysfsTer23
NP_001243111.1:p.Asn725LysfsTer23
NP_001243112.1:p.Asn725LysfsTer23
2/6955 0.00014 1 Likely pathogenic
View 17 3559997 3559997 G > A CTNS CTNS NM_004937.2:c.589G>A
NM_001031681.2:c.589G>A
NP_004928.2:p.Gly197Arg
NP_001026851.2:p.Gly197Arg
3/8745 0.00017 1 Likely pathogenic
View 17 7125312 7125312 G > A ACADVL ACADVL ACADVL ACADVL NM_001033859.2:c.598G>A
NM_001270447.1:c.733G>A
NM_001270448.1:c.436G>A
NM_000018.3:c.664G>A
NP_001029031.1:p.Gly200Arg
NP_001257376.1:p.Gly245Arg
NP_001257377.1:p.Gly146Arg
NP_000009.1:p.Gly222Arg
2/8745 0.00011 1 Likely pathogenic
View 17 15142862 15142862 A > G PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 NM_000304.3:c.245T>C
NM_153322.2:c.245T>C
NR_104018.1:n.271T>C
NR_104017.1:n.371T>C
NM_153321.2:c.245T>C
NM_001281456.1:c.245T>C
NM_001281455.1:c.245T>C
NP_000295.1:p.Leu82Pro
NP_696997.1:p.Leu82Pro
NP_696996.1:p.Leu82Pro
NP_001268385.1:p.Leu82Pro
NP_001268384.1:p.Leu82Pro
2/8745 0.00011 1 ClinVar pathogenic variant Likely pathogenic
View 17 34893231 34893231 T > A PIGW NM_178517.3:c.281T>A
NP_848612.2:p.Leu94Ter
2/6955 0.00014 2 premature_stop Likely pathogenic
View 17 34893565 34893568 TGTT > - PIGW NM_178517.3:c.617_620del
NP_848612.2:p.Val206GlyfsTer3
3/6955 0.00022 2 frameshift Likely pathogenic
View 17 34893596 34893596 C > T PIGW NM_178517.3:c.646C>T
NP_848612.2:p.Arg216Ter
2/6955 0.00014 2 premature_stop Likely pathogenic
View 17 37844236 37844236 A > - PGAP3 NM_033419.3:c.32del
NP_219487.3:p.Leu11GlnfsTer36
1/6955 0.00014 2 frameshift Likely pathogenic
View 17 44143903 44143903 C > A KANSL1 KANSL1 KANSL1 ENST00000574590.1:c.1848G>T
ENST00000432791.1:c.1848G>T
ENST00000262419.6:c.1848G>T
ENSP00000461812.1:p.Lys616Asn
ENSP00000387393.1:p.Lys616Asn
ENSP00000262419.6:p.Lys616Asn
1/6955 7.0e-05 1 non_synonymous Likely pathogenic
View 17 56292109 56292109 G > A MKS1 MKS1 NM_017777.3:c.508C>T
NM_001165927.1:c.478C>T
NP_060247.2:p.Arg170Ter
NP_001159399.1:p.Arg160Ter
1/8745 6.0e-05 2 premature_stop Likely pathogenic
View 17 59926587 59926588 TT > - BRIP1 NM_032043.2:c.409_410del
NP_114432.2:p.Lys137ValfsTer4
1/6955 7.0e-05 2 frameshift Likely pathogenic
View 17 61561231 61561232 - > CAGTTC ACE NM_000789.3:c.1617_1622dupGTTCCA
NP_000780.1:p.Gln539_Phe540dup
2/7355 0.00014 1 in_frame_indel Likely pathogenic
View 17 62019215 62019215 A > G SCN4A NM_000334.4:c.4427T>C
NP_000325.4:p.Met1476Thr
2/6955 0.00014 1 Likely pathogenic
View 17 73953546 73953546 C > T ACOX1 ACOX1 ACOX1 NM_001185039.1:c.418G>A
NM_004035.6:c.532G>A
NM_007292.5:c.532G>A
NP_001171968.1:p.Gly140Ser
NP_004026.2:p.Gly178Ser
NP_009223.2:p.Gly178Ser
1/8745 6.0e-05 1 Likely pathogenic
View 18 9122642 9122643 CT > - NDUFV2 NM_021074.4:c.434_435del
NP_066552.2:p.Ser145Ter
2/6955 0.00014 2 frameshift Likely pathogenic
View 18 42281468 42281468 G > C SETBP1 SETBP1 NM_015559.2:c.157G>C
NM_001130110.1:c.157G>C
NP_056374.2:p.Glu53Gln
NP_001123582.1:p.Glu53Gln
1/6955 7.0e-05 1 non_synonymous Likely pathogenic
View 19 7625651 7625651 G > A PNPLA6 PNPLA6 PNPLA6 PNPLA6 PNPLA6 NM_001166113.1:c.3702+1G>A
NM_001166114.1:c.3816+1G>A
NM_001166111.1:c.3846+1G>A
NM_001166112.1:c.3621+1G>A
NM_006702.4:c.3702+1G>A
2/6955 0.00014 2 donor_site Likely pathogenic
View 19 12921138 12921138 G > A RNASEH2A NM_006397.2:c.557G>A
NP_006388.2:p.Arg186Gln
2/8745 0.00017 1 Likely pathogenic
View 19 18897065 18897077 CACAAGCATCTCC > - COMP NM_000095.2:c.1279_1291del
NP_000086.2:p.Gly427ThrfsTer84
2/6955 0.00014 1 Likely pathogenic
View 19 30193884 30193884 C > A C19orf12 C19orf12 C19orf12 C19orf12 C19orf12 C19orf12 C19orf12 NR_045690.1:n.151G>T
NR_045691.1:n.422G>T
NM_001256046.1:c.161G>T
NM_031448.4:c.161G>T
NM_001256047.1:c.161G>T
NR_045692.1:n.713G>T
NM_001031726.3:c.194G>T
NP_001242975.1:p.Gly54Val
NP_113636.2:p.Gly54Val
NP_001242976.1:p.Gly54Val
NP_001026896.2:p.Gly65Val
2/6955 0.00014 1 Likely pathogenic
View 19 38951229 38951229 C > T RYR1 RYR1 NM_001042723.1:c.2575C>T
NM_000540.2:c.2575C>T
NP_001036188.1:p.Gln859Ter
NP_000531.2:p.Gln859Ter
2/7144 0.00014 2 premature_stop Likely pathogenic
View 19 41928258 41928258 A > G BCKDHA BCKDHA NM_000709.3:c.836A>G
NM_001164783.1:c.836A>G
NP_000700.1:p.Tyr279Cys
NP_001158255.1:p.Tyr279Cys
1/8745 6.0e-05 1 non_synonymous Likely pathogenic
View 19 42753385 42753385 C > - ERF NM_006494.2:c.879del
NP_006485.2:p.Ser295AlafsTer16
2/6955 0.00014 2 frameshift Likely pathogenic
View 19 50368616 50368617 - > C PNKP NM_007254.3:c.265dupG
NP_009185.2:p.Val89GlyfsTer41
2/6955 0.00014 2 frameshift Likely pathogenic
Displaying 50 through 100 of 201 variants