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Genes at Omim

AGPAT2, ANLN, ASCL1, CPS1, DDHD1, HOXB1, LRP5, MCC, MYO5B, PDE11A, POMC, RTTN, SYNJ1, TICAM1,
AGPAT2 Lipodystrophy, congenital generalized, type 1, 608594 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ASCL1 Haddad syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
CPS1 {Venoocclusive disease after bone marrow transplantation} (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
Carbamoylphosphate synthetase I deficiency, 237300 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
LRP5 {Osteoporosis}, 166710 (3)
van Buchem disease, type 2, 607636 (3)
[Bone mineral density variability 1], 601884 (3)
Osteosclerosis, 144750 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Hyperostosis, endosteal, 144750 (3)
Exudative vitreoretinopathy 4, 601813 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
POMC {Obesity, early-onset, susceptibility to}, 601665 (3)
Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SYNJ1 Parkinson disease 20, early-onset, 615530 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)

Genes at Clinical Genomics Database

AGPAT2, ANLN, ASCL1, CPS1, HOXB1, LRP5, MYO5B, PDE11A, POMC, RTTN, TICAM1,
AGPAT2 Lipodystrophy, congenital generalized, type 1
ANLN Focal segmental glomerulosclerosis 8
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
CPS1 Carbamoylphosphate synthetase I deficiency
HOXB1 Facial paresis, hereditary congenital, 3
LRP5 Osteoporosis-pseudoglioma syndrome
Exudative vitreoretinopathy 4
Hyperostosis, endosteal
Osteosclerosis
Osteopetrosis, autosomal dominant 1
van Buchem disease, type 2
MYO5B Diarrhea 2, with microvillus atrophy
PDE11A Pigmented nodular adrenocortical disease, primary, 2
POMC Proopiomelanocortin deficiency
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
TICAM1 Herpes simplex encephalitis, susceptibility to, 4

Genes at HGMD

Summary

Number of Variants: 49
Number of Genes: 49

Export to: CSV

AATK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs746215042,rs376907005
dbSNP
79093270 681.73 C CG... . 0/1 25 CODON_INSERTION MODERATE 0.09036 None None None None None None None

ACIN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs34870944
dbSNP
23548787 5702.74 C CG... . 0/1 112 CODON_INSERTION MODERATE None None None None None None None

AFAP1L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs74928179
dbSNP
116085784 1343.73 C CCCG . 0/1 57 CODON_INSERTION MODERATE None None None None None None None

AGPAT2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs201504151,rs768646064,rs77891680
dbSNP
139581758 1553.73 C CCAG . 0/1 83 CODON_INSERTION MODERATE 0.04892 0.04892 None None None None None None None

AK5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs79671213
dbSNP
78024345 2959.73 C CTAT . 1/1 57 CODON_INSERTION MODERATE 0.61961 0.61960 0.35982 None None None None None None None

ANLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs143969069,rs374349756,rs61549495
dbSNP
36447349 6009.73 A ACTT . 0/1 255 CODON_INSERTION MODERATE 0.44948 0.44950 0.38393 None None None None None None None

ART5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs3062849
dbSNP
3661585 3213.72 A ATGG . 1/1 58 CODON_INSERTION MODERATE 0.96745 0.96750 0.03526 None None None None None None None

ASCL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs3832799,rs764970999
dbSNP
103352171 440.52 C CGCA . 1/1 23 CODON_INSERTION MODERATE None None None None None None None

BAIAP2L2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs142739979
dbSNP
38483155 1703.73 T TT... . 1/1 18 CODON_INSERTION MODERATE 0.30052 0.30050 0.33270 None None None None None None None

C12orf56

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs113411861,rs10671017
dbSNP
64712546 3089.73 A AGTT . 0/1 158 CODON_INSERTION MODERATE 0.43810 0.43810 0.45456 None None None None None None None

C14orf23

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs56025822,rs71101677
dbSNP
29261309 6226.73 A AAAC . 0/1 240 CODON_INSERTION MODERATE 0.28894 0.42170 None None None None None None None

C8orf59

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs112611553
dbSNP
86126827 9792.73 C CA... . 1/1 119 CODON_INSERTION MODERATE 0.99720 0.99720 0.00399 None None None None None None None

CCDC66

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs77152637
dbSNP
56650051 4095.73 A ACTT . 0/1 206 CODON_INSERTION MODERATE 0.32270 0.41017 None None None None None None None

CDK11A

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs144636354,rs199866927
dbSNP
1647893 3778.73 C CT... . 0/1 128 CODON_INSERTION MODERATE None None None None None None None

CDK13

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 . 39990940 614.73 C CG... . 0/1 18 CODON_INSERTION MODERATE None None None None None None None

CPS1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs3835047,rs61509952
dbSNP
211421452 4240.73 A ATCT . 0/1 169 CODON_INSERTION MODERATE 0.47704 0.47700 0.46149 None None None None None None None

DDHD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs140904345,rs55671452
dbSNP
53619480 1774.73 T TG... . 1/1 38 CODON_INSERTION MODERATE 0.78534 0.78530 None None None None None None None

EOMES

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs368178421
dbSNP
27763427 744.73 G GC... . 0/1 16 CODON_INSERTION MODERATE 0.00040 0.53610 0.23557 None None None None None None None

FAM83G

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs538676818
dbSNP
18874685 1115.73 C CGGT . 1/1 20 CODON_INSERTION MODERATE 0.65176 0.65180 0.40464 None None None None None None None

FOXD2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3046924,rs71053113
dbSNP
47904668 1024.73 T TC... . 1/1 21 CODON_INSERTION MODERATE 0.96446 0.96450 0.09483 None None None None None None None

GOLGA6L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs34879341,rs398070612
dbSNP
23685004 861.73 G GCAT . 1/1 19 CODON_INSERTION MODERATE None None None None None None None

GPRIN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs112620425
dbSNP
46999591 2073.73 C CA... . 0/1 64 CODON_INSERTION MODERATE 0.47903 0.47900 0.49369 None None None None None None None

GREB1L

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs34960489,rs10654340
dbSNP
19100758 5055.73 A ATCT . 1/1 114 CODON_INSERTION MODERATE 0.99541 0.99540 0.00367 None None None None None None None

HOXB1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs534792734,rs145570960
dbSNP
46608184 1467.73 G GG... . 0/1 48 CODON_INSERTION MODERATE 0.13319 0.13320 0.17690 None None None None None None None

LRP5

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs564221347
dbSNP
68080214 273.73 C CGCT . 0/1 15 CODON_INSERTION MODERATE 0.07109 0.07109 None None None None None None None

MCC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs531679771,rs35336557
dbSNP
112824048 342.73 T TGCC . 0/1 32 CODON_INSERTION MODERATE 0.33207 0.33210 None None None None None None None

MUC13

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs10630030,rs397759224
dbSNP
124646705 5392.73 A AAAG . 1/1 98 CODON_INSERTION MODERATE 0.98602 0.98600 0.01334 None None None None None None None

MYO5B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs3841750,rs397841722
dbSNP
47405425 1355.73 T TGAG . 0/1 85 CODON_INSERTION MODERATE 0.40475 0.40480 0.30170 None None None None None None None

NADK

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs150880809,rs71578334,rs765479702
dbSNP
1684347 620.73 C CCCT . 0/1 42 CODON_INSERTION MODERATE None None None None None None None

NCOR2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs143952466
dbSNP
124824721 1277.73 C CG... . 1/1 22 CODON_INSERTION MODERATE 0.95088 0.95090 None None None None None None None

NOX4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs34495256,rs398115612
dbSNP
89224131 7055.73 T TCTC . 1/1 130 CODON_INSERTION MODERATE 0.42073 0.42070 None None None None None None None

PDE11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs3830637,rs397723704
dbSNP
178494173 2091.73 G GGGA . 1/1 41 CODON_INSERTION MODERATE 0.58766 0.58770 0.40711 None None None None None None None

POMC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs10654394
dbSNP
25384456 847.73 C CG... . 0/1 32 CODON_INSERTION MODERATE 0.07708 0.07708 0.10136 None None None None None None None

PRDM2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2308040,rs59028030
dbSNP
14106394 7953.73 A ACTC . 1/1 156 CODON_INSERTION MODERATE 0.46980 None None None None None None None

RBM23

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs61680322,rs397812315
dbSNP
23371255 1335.73 G GGGC . 0/1 98 CODON_INSERTION MODERATE 0.52240 None None None None None None None

RBMXL3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs782097222,rs55659078
dbSNP
114425181 10974.73 A AG... . 1/1 73 CODON_INSERTION MODERATE 0.00053 0.91890 0.09940 None None None None None None None

RTTN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs74941514
dbSNP
67863850 4443.73 T TCTC . 1/1 88 CODON_INSERTION MODERATE 0.95268 0.95270 0.04596 None None None None None None None

SAAL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs148650821,rs74589784
dbSNP
18127558 373.73 C CCGG . 0/1 22 CODON_INSERTION MODERATE 0.14657 0.14660 None None None None None None None

SAMD4A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs142168866,rs75516264
dbSNP
55169050 894.73 C CCAG . 0/1 46 CODON_INSERTION MODERATE 0.04073 0.04073 0.06447 None None None None None None None

SERINC2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3050461,rs5773362
dbSNP
31905889 1183.82 A ACAG . 1/1 32 CODON_INSERTION MODERATE 0.73902 0.73900 None None None None None None None

SGK223

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs150979349,rs59372311
dbSNP
8234868 1477.73 C CG... . 0/1 57 CODON_INSERTION MODERATE 0.59505 0.59500 None None None None None None None

SPATA21

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs139527123,rs80260069
dbSNP
16727305 572.73 G GCTT . 0/1 29 CODON_INSERTION MODERATE 0.09924 0.09924 0.15567 None None None None None None None

SYNJ1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs71640263
dbSNP
34003928 6006.73 A AA... . 0/1 179 CODON_INSERTION MODERATE 0.57109 0.57110 0.43913 None None None None None None None

TICAM1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs144100421,rs776163987,rs11466722
dbSNP
4817288 806.73 A AAGG . 1/1 29 CODON_INSERTION MODERATE 0.15935 0.15930 None None None None None None None

TMEM184A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs112463195,rs200315697
dbSNP
1586653 443.74 A AGCC . 1/1 13 CODON_INSERTION MODERATE None None None None None None None

TUSC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs555576178
dbSNP
25678177 379.73 A ACGC . 0/1 28 CODON_INSERTION MODERATE 0.05811 0.05811 None None None None None None None

ZNF714

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs36125838,rs57999210
dbSNP
21299774 32729.73 T TATA . 1/1 605 CODON_INSERTION MODERATE 0.84145 0.84150 0.14029 None None None None None None None

ZNF814

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs10687775,rs55789144
dbSNP
58385869 690.73 C CATA . 1/1 12 CODON_INSERTION MODERATE 0.50739 0.50740 None None None None None None None

ZNF816

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs33949217
dbSNP
53454475 8283.73 C CACT . 0/1 280 CODON_INSERTION MODERATE 0.46506 0.46510 0.45550 None None None None None None None