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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 16 2131781 2131782 - > T TSC2 TSC2 TSC2 NM_001077183.1:c.3665dupT
NM_001114382.1:c.3797dupT
NM_000548.3:c.3797dupT
NP_001070651.1:p.Pro1223AlafsTer32
NP_001107854.1:p.Pro1267AlafsTer32
NP_000539.2:p.Pro1267AlafsTer55
2/6213 0.00016 1 ClinVar pathogenic variant Likely pathogenic
View 16 3786691 3786691 A > G CREBBP CREBBP NM_004380.2:c.4520T>C
NM_001079846.1:c.4406T>C
NP_004371.2:p.Leu1507Pro
NP_001073315.1:p.Leu1469Pro
1/6213 8.0e-05 2 Likely pathogenic
View 16 8906851 8906851 G > A PMM2 NM_000303.2:c.527G>A
NP_000294.1:p.Gly176Asp
3/8004 0.00019 1 Likely pathogenic
View 16 9892232 9892232 C > G GRIN2A GRIN2A GRIN2A NM_001134408.1:c.2258G>C
NM_000833.3:c.2258G>C
NM_001134407.1:c.2258G>C
NP_001127880.1:p.Gly753Ala
NP_000824.1:p.Gly753Ala
NP_001127879.1:p.Gly753Ala
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 16 9923392 9923392 G > A GRIN2A GRIN2A GRIN2A NM_001134408.1:c.1895C>T
NM_000833.3:c.1895C>T
NM_001134407.1:c.1895C>T
NP_001127880.1:p.Ser632Phe
NP_000824.1:p.Ser632Phe
NP_001127879.1:p.Ser632Phe
1/6213 8.0e-05 2 non_synonymous Likely pathogenic
View 16 14022053 14022053 T > - ERCC4 NM_005236.2:c.755del
NP_005227.1:p.Leu252TyrfsTer3
2/8004 0.00012 2 frameshift Likely pathogenic
View 16 23555998 23555998 G > A EARS2 EARS2 NM_001083614.1:c.322C>T
NR_003501.1:n.354C>T
NP_001077083.1:p.Arg108Trp
6/6213 0.00048 1 Likely pathogenic
View 16 53671640 53671640 C > A RPGRIP1L RPGRIP1L NM_015272.2:c.3187G>T
NM_001127897.1:c.3085G>T
NP_056087.2:p.Glu1063Ter
NP_001121369.1:p.Glu1029Ter
1/8004 6.0e-05 2 premature_stop Likely pathogenic
View 16 56388883 56388883 A > G GNAO1 NM_020988.2:c.983A>G
NP_066268.1:p.Asp328Gly
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 16 56530925 56530925 G > A BBS2 ENST00000245157.5:c.1864C>T
ENSP00000245157.5:p.Arg622Ter
1/6213 8.0e-05 1 Likely pathogenic
View 16 88873798 88873798 G > A CDT1 NM_030928.3:c.1385G>A
NP_112190.2:p.Arg462Gln
1/6213 8.0e-05 1 Likely pathogenic
View 16 89167117 89167117 C > T ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 NR_045666.1:n.405C>T
NR_023316.2:n.185-1895C>T
NM_001243279.1:c.28C>T
NM_001127214.2:c.28C>T
NM_174917.3:c.28C>T
NP_001230208.1:p.Arg10Trp
NP_001120686.1:p.Arg10Trp
NP_777577.2:p.Arg10Trp
3/6213 0.00024 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
2/6213 0.00016 1 Likely pathogenic
View 17 3559997 3559997 G > A CTNS CTNS NM_001031681.2:c.589G>A
NM_004937.2:c.589G>A
NP_001026851.2:p.Gly197Arg
NP_004928.2:p.Gly197Arg
3/8004 0.00019 1 Likely pathogenic
View 17 7125312 7125312 G > A ACADVL ACADVL ACADVL ACADVL NM_000018.3:c.664G>A
NM_001270448.1:c.436G>A
NM_001033859.2:c.598G>A
NM_001270447.1:c.733G>A
NP_000009.1:p.Gly222Arg
NP_001257377.1:p.Gly146Arg
NP_001029031.1:p.Gly200Arg
NP_001257376.1:p.Gly245Arg
2/8004 0.00012 1 Likely pathogenic
View 17 15142862 15142862 A > G PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 PMP22 NM_001281455.1:c.245T>C
NM_000304.3:c.245T>C
NR_104018.1:n.271T>C
NR_104017.1:n.371T>C
NM_153322.2:c.245T>C
NM_153321.2:c.245T>C
NM_001281456.1:c.245T>C
NP_001268384.1:p.Leu82Pro
NP_000295.1:p.Leu82Pro
NP_696997.1:p.Leu82Pro
NP_696996.1:p.Leu82Pro
NP_001268385.1:p.Leu82Pro
2/8004 0.00012 1 non_synonymous Likely pathogenic
View 17 34893231 34893231 T > A PIGW NM_178517.3:c.281T>A
NP_848612.2:p.Leu94Ter
2/6213 0.00016 2 premature_stop Likely pathogenic
View 17 34893565 34893568 TGTT > - PIGW NM_178517.3:c.617_620del
NP_848612.2:p.Val206GlyfsTer3
3/6213 0.00024 2 frameshift Likely pathogenic
View 17 34893596 34893596 C > T PIGW NM_178517.3:c.646C>T
NP_848612.2:p.Arg216Ter
2/6213 0.00016 2 premature_stop Likely pathogenic
View 17 37844236 37844236 A > - PGAP3 NM_033419.3:c.32del
NP_219487.3:p.Leu11GlnfsTer36
1/6213 0.00016 2 frameshift Likely pathogenic
View 17 44143903 44143903 C > A KANSL1 KANSL1 KANSL1 ENST00000432791.1:c.1848G>T
ENST00000262419.6:c.1848G>T
ENST00000574590.1:c.1848G>T
ENSP00000387393.1:p.Lys616Asn
ENSP00000262419.6:p.Lys616Asn
ENSP00000461812.1:p.Lys616Asn
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 17 56292109 56292109 G > A MKS1 MKS1 NM_001165927.1:c.478C>T
NM_017777.3:c.508C>T
NP_001159399.1:p.Arg160Ter
NP_060247.2:p.Arg170Ter
1/8004 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
1/6213 8.0e-05 2 frameshift Likely pathogenic
View 17 61561231 61561232 - > CAGTTC ACE NM_000789.3:c.1617_1622dupGTTCCA
NP_000780.1:p.Gln539_Phe540dup
2/6624 0.00015 1 in_frame_indel Likely pathogenic
View 17 62019215 62019215 A > G SCN4A NM_000334.4:c.4427T>C
NP_000325.4:p.Met1476Thr
2/6213 0.00016 1 Likely pathogenic
View 17 73953546 73953546 C > T ACOX1 ACOX1 ACOX1 NM_007292.5:c.532G>A
NM_001185039.1:c.418G>A
NM_004035.6:c.532G>A
NP_009223.2:p.Gly178Ser
NP_001171968.1:p.Gly140Ser
NP_004026.2:p.Gly178Ser
1/8004 6.0e-05 1 Likely pathogenic
View 18 9122642 9122643 CT > - NDUFV2 NM_021074.4:c.434_435del
NP_066552.2:p.Ser145Ter
2/6213 0.00016 2 frameshift Likely pathogenic
View 18 42281468 42281468 G > C SETBP1 SETBP1 NM_001130110.1:c.157G>C
NM_015559.2:c.157G>C
NP_001123582.1:p.Glu53Gln
NP_056374.2:p.Glu53Gln
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 19 7625651 7625651 G > A PNPLA6 PNPLA6 PNPLA6 PNPLA6 PNPLA6 NM_001166111.1:c.3846+1G>A
NM_001166112.1:c.3621+1G>A
NM_001166113.1:c.3702+1G>A
NM_001166114.1:c.3816+1G>A
NM_006702.4:c.3702+1G>A
2/6213 0.00016 2 donor_site Likely pathogenic
View 19 12921138 12921138 G > A RNASEH2A NM_006397.2:c.557G>A
NP_006388.2:p.Arg186Gln
2/8004 0.00019 1 Likely pathogenic
View 19 18897065 18897077 CACAAGCATCTCC > - COMP NM_000095.2:c.1279_1291del
NP_000086.2:p.Gly427ThrfsTer84
2/6213 0.00016 1 Likely pathogenic
View 19 38951229 38951229 C > T RYR1 RYR1 NM_000540.2:c.2575C>T
NM_001042723.1:c.2575C>T
NP_000531.2:p.Gln859Ter
NP_001036188.1:p.Gln859Ter
2/6402 0.00016 2 premature_stop Likely pathogenic
View 19 41928258 41928258 A > G BCKDHA BCKDHA NM_001164783.1:c.836A>G
NM_000709.3:c.836A>G
NP_001158255.1:p.Tyr279Cys
NP_000700.1:p.Tyr279Cys
1/8004 6.0e-05 1 non_synonymous Likely pathogenic
View 19 42753385 42753385 C > - ERF NM_006494.2:c.879del
NP_006485.2:p.Ser295AlafsTer16
2/6213 0.00016 2 frameshift Likely pathogenic
View 19 50368616 50368617 - > C PNKP NM_007254.3:c.265dupG
NP_009185.2:p.Val89GlyfsTer41
2/6213 0.00016 2 frameshift Likely pathogenic
View 2 1915795 1915795 C > T MYT1L ENST00000399161.2:c.1706G>A
ENSP00000382114.2:p.Arg569Gln
1/6213 8.0e-05 1 non_synonymous Likely pathogenic
View 2 32353512 32353512 C > - SPAST SPAST NM_014946.3:c.1209del
NM_199436.1:c.1113del
NP_055761.2:p.Phe404LeufsTer3
NP_955468.1:p.Phe372LeufsTer3
2/6213 0.00016 2 frameshift Likely pathogenic
View 2 88885358 88885358 C > T EIF2AK3 NM_004836.5:c.1650+1G>A
2/8004 0.00012 2 donor_site Likely pathogenic
View 2 99778789 99778789 G > - LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 LIPT1 NR_037935.1:n.854del
NM_145197.2:c.369del
NM_145199.2:c.369del
NM_015929.3:c.369del
NM_001204830.1:c.369del
NM_145198.2:c.369del
NR_037936.1:n.530del
NP_660198.1:p.Lys123AsnfsTer8
NP_660200.1:p.Lys123AsnfsTer8
NP_057013.1:p.Lys123AsnfsTer8
NP_001191759.1:p.Lys123AsnfsTer8
NP_660199.1:p.Lys123AsnfsTer8
15/6213 0.00121 2 frameshift Likely pathogenic
View 2 121743949 121743949 G > - GLI2 NM_005270.4:c.2055del
NP_005261.2:p.Thr686ArgfsTer9
1/6213 8.0e-05 2 frameshift Likely pathogenic
View 2 138762746 138762746 C > - HNMT NM_006895.2:c.475del
NP_008826.1:p.His159IlefsTer4
2/6435 0.00016 2 frameshift Likely pathogenic
View 2 166915128 166915128 G > A SCN1A SCN1A SCN1A SCN1A NM_001165964.1:c.335C>T
NM_001202435.1:c.335C>T
NM_001165963.1:c.335C>T
NM_006920.4:c.335C>T
NP_001159436.1:p.Thr112Ile
NP_001189364.1:p.Thr112Ile
NP_001159435.1:p.Thr112Ile
NP_008851.3:p.Thr112Ile
1/6435 8.0e-05 1 Likely pathogenic
View 2 191109651 191109651 G > A HIBCH HIBCH NM_014362.3:c.853C>T
NM_198047.2:c.853C>T
NP_055177.2:p.Gln285Ter
NP_932164.1:p.Gln285Ter
3/8004 0.00019 2 premature_stop Likely pathogenic
View 2 197081790 197081790 C > T HECW2 ENST00000260983.3:c.4436G>A
ENSP00000260983.2:p.Arg1479Gln
1/6174 8.0e-05 1 non_synonymous Likely pathogenic
View 2 228176567 228176567 G > A COL4A3 LOC654841 NM_000091.4:c.4994G>A
NR_102371.1:n.48-6196C>T
NP_000082.2:p.Cys1665Tyr
2/8004 0.00012 1 Likely pathogenic
View 2 241810850 241810850 G > A AGXT NM_000030.2:c.508G>A
NP_000021.1:p.Gly170Arg
10/6213 0.0008 1 Likely pathogenic
View 20 32880181 32880181 T > C AHCY AHCY NM_001161766.1:c.344A>G
NM_000687.2:c.428A>G
NP_001155238.1:p.Tyr115Cys
NP_000678.1:p.Tyr143Cys
7/6213 0.00056 1 Likely pathogenic
View 20 44592290 44592290 C > T ZNF335 NM_022095.3:c.1356-1G>A
1/6213 8.0e-05 2 acceptor_site Likely pathogenic
View 20 47612367 47612367 C > T ARFGEF2 NM_006420.2:c.3169C>T
NP_006411.2:p.Gln1057Ter
1/6213 8.0e-05 2 premature_stop Likely pathogenic
View 20 62044927 62044927 G > A KCNQ2 KCNQ2 KCNQ2 KCNQ2 NM_172106.1:c.1585C>T
NM_172108.3:c.1546C>T
NM_172107.2:c.1639C>T
NM_004518.4:c.1555C>T
NP_742104.1:p.Arg529Trp
NP_742106.1:p.Arg516Trp
NP_742105.1:p.Arg547Trp
NP_004509.2:p.Arg519Trp
1/6213 8.0e-05 1 Likely pathogenic
Displaying 50 through 100 of 180 variants