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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 5 1201806 1201806 G > A SLC6A19 NM_001003841.2:c.41G>A
NP_001003841.1:p.Arg14Gln
10/6214 0.0008 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 1293767 1293767 G > A TERT TERT NM_198253.2:c.1234C>T
NM_001193376.1:c.1234C>T
NP_937983.2:p.His412Tyr
NP_001180305.1:p.His412Tyr
43/6213 0.00346 4 Likely Benign
View 5 6600043 6600043 C > T NSUN2 NSUN2 NSUN2 NR_037947.1:n.2596G>A
NM_017755.5:c.2300G>A
NM_001193455.1:c.2195G>A
NP_060225.4:p.Arg767Gln
NP_001180384.1:p.Arg732Gln
100/8004 0.00625 4 non_synonymous Likely Benign
View 5 6600200 6600200 C > T NSUN2 NSUN2 NSUN2 NR_037947.1:n.2439G>A
NM_017755.5:c.2143G>A
NM_001193455.1:c.2038G>A
NP_060225.4:p.Val715Ile
NP_001180384.1:p.Val680Ile
145/8004 0.00912 4 non_synonymous Likely Benign
View 5 13708216 13708216 G > A DNAH5 NM_001369.2:c.13338+16C>T
31/6175 0.00259 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 5 13817726 13817726 C > T DNAH5 NM_001369.2:c.6919G>A
NP_001360.1:p.Val2307Ile
25/6213 0.00201 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 13820593 13820593 A > C DNAH5 NM_001369.2:c.6703T>G
NP_001360.1:p.Leu2235Val
24/6213 0.00193 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 13824288 13824288 C > T DNAH5 NM_001369.2:c.6579+20G>A
23/6174 0.00186 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 5 13842027 13842028 - > A DNAH5 NM_001369.2:c.5272-15dupT
74/6174 0.01029 4 polypyrimidine_tract Likely Benign
View 5 13901555 13901555 G > T DNAH5 NM_001369.2:c.1858C>A
NP_001360.1:p.Gln620Lys
14/6213 0.00121 4 non_synonymous Likely Benign
View 5 13923528 13923528 C > G DNAH5 NM_001369.2:c.299G>C
NP_001360.1:p.Gly100Ala
13/6213 0.00105 4 non_synonymous Likely Benign
View 5 14330869 14330869 A > G TRIO NM_007118.2:c.1732-18A>G
18/6174 0.00154 4 three_prime_flank Likely Benign
View 5 14364747 14364747 T > A TRIO NM_007118.2:c.2588-12T>A
89/6174 0.00745 4 polypyrimidine_tract Likely Benign
View 5 14381370 14381370 A > G TRIO NM_007118.2:c.3570+9A>G
3/6213 0.00024 4 five_prime_intronic Likely Benign
View 5 14488104 14488104 C > T TRIO NM_007118.2:c.7367C>T
NP_009049.2:p.Pro2456Leu
10/6213 0.0008 4 non_synonymous Likely Benign
View 5 14498000 14498000 T > C TRIO NM_007118.2:c.8047+17T>C
24/6174 0.00194 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 5 14508347 14508347 A > T TRIO NM_007118.2:c.9110A>T
NP_009049.2:p.Lys3037Met
28/6213 0.00225 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 33998931 33998931 A > G AMACR AMACR C1QTNF3-AMACR AMACR NM_203382.2:c.393T>C
NM_001167595.1:c.554T>C
NR_037951.1:n.799T>C
NM_014324.5:c.554T>C
NP_976316.1:p.Gly131=
NP_001161067.1:p.Val185Ala
NP_055139.4:p.Val185Ala
19/8004 0.00119 4 Likely Benign
View 5 36962301 36962301 G > A NIPBL NIPBL NM_133433.3:c.535G>A
NM_015384.4:c.535G>A
NP_597677.2:p.Ala179Thr
NP_056199.2:p.Ala179Thr
36/6213 0.0029 4 Likely Benign
View 5 36985267 36985267 A > G NIPBL NIPBL NM_133433.3:c.1985A>G
NM_015384.4:c.1985A>G
NP_597677.2:p.Lys662Arg
NP_056199.2:p.Lys662Arg
17/6213 0.00137 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 36985576 36985576 G > A NIPBL NIPBL NM_133433.3:c.2294G>A
NM_015384.4:c.2294G>A
NP_597677.2:p.Arg765Lys
NP_056199.2:p.Arg765Lys
6/6213 0.00048 4 non_synonymous Likely Benign
View 5 37044446 37044446 T > C NIPBL NIPBL NM_133433.3:c.6109-3T>C
NM_015384.4:c.6109-3T>C
69/6213 0.00563 4 Likely Benign
View 5 37182862 37182862 C > T C5orf42 NM_023073.3:c.5421G>A
NP_075561.3:p.Lys1807=
77/6213 0.00636 4 five_prime_exonic Likely Benign
View 5 38493836 38493836 G > T LIFR LIFR NM_001127671.1:c.1937C>A
NM_002310.5:c.1937C>A
NP_001121143.1:p.Thr646Asn
NP_002301.1:p.Thr646Asn
33/8004 0.00212 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 38493905 38493905 G > A LIFR LIFR NM_001127671.1:c.1886-18C>T
NM_002310.5:c.1886-18C>T
69/7966 0.00458 4 Common ExAC MAF original cat: TYPE_3 - three_prime_flank Likely Benign
View 5 39341345 39341345 C > A C9 NM_001737.3:c.379G>T
NP_001728.1:p.Asp127Tyr
35/6213 0.00282 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 41195939 41195939 G > A C6 C6 NM_000065.3:c.542C>T
NM_001115131.2:c.542C>T
NP_000056.2:p.Thr181Ile
NP_001108603.2:p.Thr181Ile
89/6213 0.00724 4 non_synonymous Likely Benign
View 5 45695973 45695981 CGCCGCCGC > - HCN1 NM_021072.3:c.215_223del
NP_066550.2:p.Gly72_Gly74del
34/6213 0.00282 4 in_frame_indel Likely Benign
View 5 45695973 45695978 CGCCGC > - HCN1 NM_021072.3:c.218_223del
NP_066550.2:p.Gly73_Gly74del
41/6213 0.00338 4 in_frame_indel Likely Benign
View 5 54527316 54527316 C > T CCNO NM_021147.3:c.940G>A
NP_066970.3:p.Glu314Lys
9/6213 0.00072 4 non_synonymous Likely Benign
View 5 56176645 56176645 T > G MAP3K1 NM_005921.1:c.2179+16T>G
60/6175 0.00486 4 five_prime_intronic Likely Benign
View 5 58285753 58285754 - > A PDE4D PDE4D PDE4D PDE4D PDE4D PDE4D PDE4D PDE4D PDE4D NM_001197221.1:c.382-8dupT
NM_001197218.1:c.1096-8dupT
NM_001197220.1:c.898-8dupT
NM_001165899.1:c.1105-8dupT
NM_001197219.1:c.922-8dupT
NM_001197223.1:c.415-8dupT
NM_001104631.1:c.1288-8dupT
NM_001197222.1:c.616-8dupT
NM_006203.4:c.880-8dupT
95/6213 0.00773 4 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Likely Benign
View 5 58334922 58334922 G > T PDE4D PDE4D PDE4D PDE4D PDE4D PDE4D PDE4D PDE4D NM_001197221.1:c.-136C>A
NM_001197218.1:c.617-124C>A
NM_001197220.1:c.419-124C>A
NM_001165899.1:c.626-124C>A
NM_001197219.1:c.443-124C>A
NM_001104631.1:c.809-124C>A
NM_001197222.1:c.13C>A
NM_006203.4:c.401-124C>A
NP_001184151.1:p.Pro5Thr
107/6213 0.00869 4 non_synonymous Likely Benign
View 5 61643941 61643941 C > A KIF2A KIF2A KIF2A KIF2A NM_001243952.1:c.166C>A
NM_001098511.2:c.226C>A
NM_001243953.1:c.226C>A
NM_004520.4:c.226C>A
NP_001230881.1:p.Pro56Thr
NP_001091981.1:p.Pro76Thr
NP_001230882.1:p.Pro76Thr
NP_004511.2:p.Pro76Thr
4/6213 0.00032 4 non_synonymous Likely Benign
View 5 61648394 61648395 - > T KIF2A KIF2A KIF2A KIF2A NM_001243952.1:c.275-9dupT
NM_001098511.2:c.335-9dupT
NM_001243953.1:c.335-9dupT
NM_004520.4:c.335-9dupT
63/6174 0.0051 4 three_prime_flank Likely Benign
View 5 61662223 61662224 - > T KIF2A KIF2A KIF2A KIF2A NM_001243952.1:c.1519-8dupT
NM_001098511.2:c.1579-8dupT
NM_001243953.1:c.1522-8dupT
NM_004520.4:c.1579-8dupT
95/6174 0.00769 4 three_prime_flank Likely Benign
View 5 73981299 73981299 C > T HEXB ENST00000261416.7:c.214C>T
ENSP00000261416.7:p.Leu72Phe
133/8004 0.0085 4 non_synonymous Likely Benign
View 5 74677775 74677775 G > A COL4A3BP COL4A3BP COL4A3BP NM_001130105.1:c.2000C>T
NM_005713.2:c.1616C>T
NM_031361.2:c.1538C>T
NP_001123577.1:p.Pro667Leu
NP_005704.1:p.Pro539Leu
NP_112729.1:p.Pro513Leu
2/6213 0.00016 4 non_synonymous Likely Benign
View 5 74807116 74807116 C > T COL4A3BP COL4A3BP COL4A3BP NM_001130105.1:c.301G>A
NM_005713.2:c.-84G>A
NM_031361.2:c.-84G>A
NP_001123577.1:p.Asp101Asn
64/6213 0.00539 4 non_synonymous Likely Benign
View 5 77411985 77411985 T > C AP3B1 AP3B1 NM_003664.4:c.2042A>G
NM_001271769.1:c.1895A>G
NP_003655.3:p.Glu681Gly
NP_001258698.1:p.Glu632Gly
18/8004 0.00112 4 non_synonymous Likely Benign
View 5 78280974 78280974 G > A ARSB ARSB NM_198709.2:c.98C>T
NM_000046.3:c.98C>T
NP_942002.1:p.Ala33Val
NP_000037.2:p.Ala33Val
97/8004 0.00618 4 Likely Benign
View 5 89854743 89854743 T > C ADGRV1 ADGRV1 NR_003149.1:n.118+9T>C
NM_032119.3:c.22+9T>C
12/8004 0.00075 4 five_prime_intronic Likely Benign
View 5 89923101 89923101 G > A ADGRV1 ADGRV1 NR_003149.1:n.842G>A
NM_032119.3:c.746G>A
NP_115495.3:p.Arg249Lys
139/8004 0.00868 4 non_synonymous Likely Benign
View 5 89925363 89925363 G > A ADGRV1 ADGRV1 NR_003149.1:n.1935+7G>A
NM_032119.3:c.1839+7G>A
30/8004 0.002 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 5 89948305 89948305 A > G ADGRV1 ADGRV1 NR_003149.1:n.3655A>G
NM_032119.3:c.3559A>G
NP_115495.3:p.Ile1187Val
35/8004 0.00231 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 5 89979568 89979568 G > A ADGRV1 ADGRV1 NR_003149.1:n.5926G>A
NM_032119.3:c.5830G>A
NP_115495.3:p.Asp1944Asn
97/8004 0.00612 4 Likely Benign
View 5 89979833 89979833 C > T ADGRV1 ADGRV1 NR_003149.1:n.6191C>T
NM_032119.3:c.6095C>T
NP_115495.3:p.Ala2032Val
15/8004 0.001 4 non_synonymous Likely Benign
View 5 89979871 89979871 G > A ADGRV1 ADGRV1 NR_003149.1:n.6229G>A
NM_032119.3:c.6133G>A
NP_115495.3:p.Gly2045Arg
90/8004 0.00562 4 Likely Benign
View 5 89990447 89990447 G > A ADGRV1 ADGRV1 NR_003149.1:n.7887G>A
NM_032119.3:c.7874G>A
NP_115495.3:p.Arg2625His
34/8004 0.00219 4 non_synonymous Likely Benign
View 5 89990524 89990524 C > T ADGRV1 ADGRV1 NR_003149.1:n.7958+6C>T
NM_032119.3:c.7945+6C>T
60/8004 0.00375 4 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Likely Benign
Displaying 1,500 through 1,550 of 2,310 variants