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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 71146886 71146886 C > G DHCR7 DHCR7 NM_001163817.1:c.964-1G>C
NM_001360.2:c.964-1G>C
134/10521 0.00642 1 Pathogenic
View 11 71152378 71152378 A > G DHCR7 DHCR7 NM_001163817.1:c.521T>C
NM_001360.2:c.521T>C
NP_001157289.1:p.Phe174Ser
NP_001351.2:p.Phe174Ser
2/10521 0.0001 1 Pathogenic
View 11 71152447 71152447 C > T DHCR7 DHCR7 NM_001163817.1:c.452G>A
NM_001360.2:c.452G>A
NP_001157289.1:p.Trp151Ter
NP_001351.2:p.Trp151Ter
19/10521 0.0009 1 Pathogenic
View 11 71155998 71155998 T > C DHCR7 DHCR7 NM_001163817.1:c.1A>G
NM_001360.2:c.1A>G
NP_001157289.1:p.Met1?
NP_001351.2:p.Met1?
3/10521 0.00014 1 Pathogenic
View 11 103091449 103091449 A > G DYNC2H1 DYNC2H1 NM_001080463.1:c.9044A>G
NM_001377.2:c.9044A>G
NP_001073932.1:p.Asp3015Gly
NP_001368.2:p.Asp3015Gly
10/10521 0.00048 1 Pathogenic
View 11 103187273 103187273 G > A DYNC2H1 DYNC2H1 NM_001080463.1:c.11671-1G>A
NM_001377.2:c.11650-1G>A
1/10521 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 108009661 108009661 A > G ACAT1 NM_000019.3:c.472A>G
NP_000010.1:p.Asn158Asp
2/10521 0.0001 1 Pathogenic
View 11 108010834 108010834 C > T ACAT1 NM_000019.3:c.622C>T
NP_000010.1:p.Arg208Ter
3/10521 0.00014 1 Pathogenic
View 11 108121753 108121754 AG > - ATM ENST00000278616.4:c.1564_1565del
ENSP00000278616.4:p.Glu522IlefsTer43
3/10521 0.00014 1 Pathogenic
View 11 118375197 118375197 C > T KMT2A KMT2A NM_001197104.1:c.8590C>T
NM_005933.3:c.8581C>T
NP_001184033.1:p.Gln2864Ter
NP_005924.2:p.Gln2861Ter
1/8685 6.0e-05 1 Pathogenic
View 11 118390416 118390416 C > T KMT2A KMT2A NM_001197104.1:c.11230C>T
NM_005933.3:c.11221C>T
NP_001184033.1:p.Arg3744Ter
NP_005924.2:p.Arg3741Ter
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 11 119148880 119148880 A > C CBL NM_005188.3:c.1100A>C
NP_005179.2:p.Gln367Pro
2/8685 0.00012 1 Pathogenic
View 12 5021268 5021268 G > C KCNA1 NM_000217.2:c.724G>C
NP_000208.2:p.Ala242Pro
2/8685 0.00012 1 Pathogenic
View 12 6143978 6143978 C > T VWF ENST00000261405.5:c.2561G>A
ENSP00000261405.5:p.Arg854Gln
77/8685 0.00455 1 Pathogenic
View 12 48373317 48373317 G > A COL2A1 COL2A1 NM_033150.2:c.2503C>T
NM_001844.4:c.2710C>T
NP_149162.2:p.Arg835Cys
NP_001835.3:p.Arg904Cys
1/8685 6.0e-05 1 Pathogenic
View 12 48374723 48374723 C > A COL2A1 COL2A1 NM_033150.2:c.2285G>T
NM_001844.4:c.2492G>T
NP_149162.2:p.Gly762Val
NP_001835.3:p.Gly831Val
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 12 49420661 49420661 G > A KMT2D NM_003482.3:c.15088C>T
NP_003473.3:p.Arg5030Cys
1/8685 6.0e-05 1 Pathogenic
View 12 49432295 49432298 TGGA > - KMT2D NM_003482.3:c.8841_8844del
NP_003473.3:p.His2947GlnfsTer56
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 12 49445620 49445621 - > A KMT2D NM_003482.3:c.1845dupT
NP_003473.3:p.Pro616SerfsTer7
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 12 49579508 49579508 C > T TUBA1A TUBA1A TUBA1A NM_001270399.1:c.641G>A
NM_006009.3:c.641G>A
NM_001270400.1:c.536G>A
NP_001257328.1:p.Arg214His
NP_006000.2:p.Arg214His
NP_001257329.1:p.Arg179His
1/10521 5.0e-05 1 Pathogenic
View 12 52200900 52200900 A > G SCN8A SCN8A NM_014191.3:c.5630A>G
NM_001177984.2:c.5507A>G
NP_055006.1:p.Asn1877Ser
NP_001171455.1:p.Asn1836Ser
1/8685 6.0e-05 1 Pathogenic
View 12 53715207 53715207 G > T AAAS AAAS NM_001173466.1:c.43C>A
NM_015665.5:c.43C>A
NP_001166937.1:p.Gln15Lys
NP_056480.1:p.Gln15Lys
5/10521 0.00024 1 Pathogenic
View 12 88471040 88471040 C > A CEP290 ENST00000552810.1:c.5668G>T
ENSP00000448012.1:p.Gly1890Ter
3/10521 0.00014 1 Pathogenic
View 12 88524101 88524101 G > A CEP290 ENST00000552810.1:c.613C>T
ENSP00000448012.1:p.Arg205Ter
2/10521 0.0001 1 Pathogenic
View 12 88530424 88530424 T > - CEP290 ENST00000552810.1:c.437del
ENSP00000448012.1:p.Glu146GlyfsTer17
2/10521 0.0001 1 Pathogenic
View 12 102147248 102147249 GA > - GNPTAB NM_024312.4:c.3503_3504del
NP_077288.2:p.Leu1168GlnfsTer5
25/10521 0.00119 1 Pathogenic
View 12 103234252 103234252 T > C PAH ENST00000553106.1:c.1241A>G
ENSP00000448059.1:p.Tyr414Cys
13/10521 0.00062 1 Pathogenic
View 12 103234271 103234271 G > A PAH ENST00000553106.1:c.1222C>T
ENSP00000448059.1:p.Arg408Trp
15/10521 0.00071 1 Pathogenic
View 12 103238146 103238146 C > A PAH ENST00000553106.1:c.1033G>T
ENSP00000448059.1:p.Ala345Ser
1/10521 5.0e-05 1 Pathogenic
View 12 103246653 103246653 C > T PAH ENST00000553106.1:c.782G>A
ENSP00000448059.1:p.Arg261Gln
6/10521 0.00029 1 Pathogenic
View 12 103246714 103246714 G > A PAH ENST00000553106.1:c.721C>T
ENSP00000448059.1:p.Arg241Cys
1/10521 5.0e-05 1 Pathogenic
View 12 103249093 103249093 C > A PAH ENST00000553106.1:c.527G>T
ENSP00000448059.1:p.Arg176Leu
4/10521 0.00019 1 Pathogenic
View 12 103260410 103260410 C > T PAH ENST00000553106.1:c.473G>A
ENSP00000448059.1:p.Arg158Gln
5/10521 0.00029 1 Pathogenic
View 12 103306594 103306594 A > G PAH ENST00000553106.1:c.143T>C
ENSP00000448059.1:p.Leu48Ser
8/10521 0.00038 1 Pathogenic
View 12 109994886 109994886 G > A MMAB MMAB NR_038118.1:n.860C>T
NM_052845.3:c.700C>T
NP_443077.1:p.Gln234Ter
4/10521 0.00019 1 Pathogenic
View 12 110011274 110011274 G > T MMAB MMAB NR_038118.1:n.85C>A
NM_052845.3:c.12C>A
NP_443077.1:p.Cys4Ter
2/10521 0.0001 1 Pathogenic
View 12 112888156 112888156 A > C PTPN11 PTPN11 NM_002834.3:c.172A>C
NM_080601.1:c.172A>C
NP_002825.3:p.Asn58His
NP_542168.1:p.Asn58His
2/8685 0.00012 1 Pathogenic
View 12 112888198 112888198 G > T PTPN11 PTPN11 NM_002834.3:c.214G>T
NM_080601.1:c.214G>T
NP_002825.3:p.Ala72Ser
NP_542168.1:p.Ala72Ser
1/8685 6.0e-05 1 Pathogenic
View 12 112888202 112888202 C > T PTPN11 PTPN11 NM_002834.3:c.218C>T
NM_080601.1:c.218C>T
NP_002825.3:p.Thr73Ile
NP_542168.1:p.Thr73Ile
1/8685 6.0e-05 1 Pathogenic
View 12 112915523 112915523 A > G PTPN11 PTPN11 NM_002834.3:c.922A>G
NM_080601.1:c.922A>G
NP_002825.3:p.Asn308Asp
NP_542168.1:p.Asn308Asp
4/8685 0.00023 1 Pathogenic
View 12 112926258 112926258 G > C PTPN11 NM_002834.3:c.1391G>C
NP_002825.3:p.Gly464Ala
1/8685 6.0e-05 1 Pathogenic
View 12 112926897 112926897 A > C PTPN11 NM_002834.3:c.1517A>C
NP_002825.3:p.Gln506Pro
1/8685 6.0e-05 1 Pathogenic
View 12 114836432 114836432 G > - TBX5 TBX5 TBX5 NM_181486.2:c.456del
NM_000192.3:c.456del
NM_080717.2:c.306del
NP_852259.1:p.Val153SerfsTer21
NP_000183.2:p.Val153SerfsTer21
NP_542448.1:p.Val103SerfsTer21
1/8685 6.0e-05 1 Pathogenic
View 13 20763582 20763582 C > A GJB2 NM_004004.5:c.139G>T
NP_003995.2:p.Glu47Ter
7/10521 0.00033 1 Pathogenic
View 13 20763686 20763686 C > - GJB2 NM_004004.5:c.35del
NP_003995.2:p.Gly12ValfsTer2
202/10521 0.00974 1 Pathogenic
View 13 31843415 31843415 G > A B3GLCT NM_194318.3:c.660+1G>A
13/8685 0.00075 1 Pathogenic
View 13 37583420 37583420 G > C EXOSC8 NM_181503.2:c.815G>C
NP_852480.1:p.Ser272Thr
83/8685 0.00478 1 Pathogenic
View 13 41381515 41381515 G > A TPTE2P5 TPTE2P5 SLC25A15 NR_038259.1:n.452-6655C>T
NR_038258.1:n.623-6655C>T
NM_014252.3:c.538G>A
NP_055067.1:p.Glu180Lys
2/10521 0.0001 1 Pathogenic
View 13 51519581 51519581 G > A RNASEH2B RNASEH2B NM_001142279.2:c.529G>A
NM_024570.3:c.529G>A
NP_001135751.1:p.Ala177Thr
NP_078846.2:p.Ala177Thr
50/10521 0.00242 1 Pathogenic
View 13 108861713 108861713 T > - LIG4 LIG4 LIG4 NM_002312.3:c.1904del
NM_001098268.1:c.1904del
NM_206937.1:c.1904del
NP_002303.2:p.Lys635ArgfsTer10
NP_001091738.1:p.Lys635ArgfsTer10
NP_996820.1:p.Lys635ArgfsTer10
2/10521 0.0001 1 Pathogenic
Displaying 100 through 150 of 521 variants