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Genes:
ABCC11, ACAN, ARHGEF15, ASIC1, BATF2, C1orf63, CBWD1, CMTM1, COL6A6, COLQ, CSDE1, CSMD3, CYP2E1, DNAH5, DNHD1, DUSP2, DYRK2, FADS6, FLG, HACL1, HBE1, HEPHL1, HMHA1, IGHV1-2, IGHV3-30, IGSF3, IRX3, KAT5, KCNC1, KIAA0430, KIAA1033, KIR3DL2, KMT2C, LEPRE1, LINC00692, LRMP, MANEA, MAP3K2, MBP, MFF, MRC1, MROH8, MUC16, MUL1, NKAIN2, NOTCH2, NUDT18, OBSL1, OR52J3, OR5AC2, PI4K2A, PKMYT1, PRKACA, RAB5A, RAI14, RFX3, RHOD, RP11-1407O15.2, RXRG, SEPT5, SIM1, SLC8B1, SUGT1, SUPV3L1, SYCP3, TEKT4, TG, TMEM131, TOP2B, TOPAZ1, TRBV10-2, TRBV7-6, TRBV7-7, TSC2, VIPAS39, WDR63, ZC3HC1, ZNF717,

+ Genes associated with diseases 17

Genes at Omim

ABCC11, ACAN, COLQ, DNAH5, FLG, IGSF3, KCNC1, KMT2C, MFF, NOTCH2, OBSL1, PRKACA, SIM1, SYCP3, TG, TSC2, VIPAS39,

ABCC11	[Axillary odor, variation in], 117800 (3) [Colostrum secretion, variation in], 117800 (3) [Earwax, wet/dry], 117800 (3)
ACAN	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3) ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
COLQ	Myasthenic syndrome, congenital, 5, 603034 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
FLG	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3) Ichthyosis vulgaris, 146700 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
KCNC1	Epilepsy, progressive myoclonic 7, 616187 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
MFF	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
NOTCH2	Alagille syndrome 2, 610205 (3) Hajdu-Cheney syndrome, 102500 (3)
OBSL1	3-M syndrome 2, 612921 (3)
PRKACA	Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)
SIM1	Obesity, severe, 601665 (3)
SYCP3	Pregnancy loss, recurrent, 4, 270960 (3) Spermatogenic failure 4, 270960 (3)
TG	Thyroid dyshormonogenesis 3, 274700 (3) {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TSC2	Lymphangioleiomyomatosis, somatic, 606690 (3) Tuberous sclerosis-2, 613254 (3) ?Focal cortical dysplasia, type II, somatic, 607341 (3)
VIPAS39	Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)

Genes at Clinical Genomics Database

ABCC11, ACAN, COLQ, DNAH5, FLG, IGSF3, KCNC1, KIAA1033, NOTCH2, OBSL1, PRKACA, SYCP3, TG, TSC2, VIPAS39,

ABCC11	Apocrine gland secretion, variation in
ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
COLQ	Myasthenic syndrome, congenital 5
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
FLG	Icthyosis vulgaris
IGSF3	Lacrimal duct defect
KCNC1	Epilepsy, progressive myoclonic 7
KIAA1033	Mental retardation, autosomal recessive 43
NOTCH2	Alagille syndrome 2
OBSL1	Three M syndrome 2
PRKACA	Primary pigmented nodular adrenocortical disease 4
SYCP3	Spermatogenic failure 4 Pregnancy loss, recurrent, 4
TG	Thyroid dyshormonogenesis 3
TSC2	Tuberous sclerosis 2 Lymphangioleiomyomatosis
VIPAS39	Arthrogryposis, renal dysfunction, and cholestasis 2

Genes at HGMD

Summary

Number of Variants: 277
Number of Genes: 78

Export to: CSV

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ABCC11
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	33011510240923_annotated	16	.	48256679	3616.77	C	A	PASS	0/1	307	NON_SYNONYMOUS_CODING	MODERATE	None				0.23	0.08		None None	None None None None	ABCC11\|0.006558104\|83.99%
ACAN
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	33011510240923_annotated	15	.	89401028	1223.77	C	G	PASS	0/1	95	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.97		None None	None None None None	ACAN\|0.017538305\|75.58%
ARHGEF15
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	33011510240923_annotated	17	.	8216343	967.77	C	T	PASS	0/1	69	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ARHGEF15\|0.03636471\|66.99%
ASIC1
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	33011510240923_annotated	12	.	50467875	2058.77	G	A	PASS	0/1	178	None	None	None				0.14	0.01		None None	None None None None	ASIC1\|0.372226278\|22.59%
BATF2
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	33011510240923_annotated	11	.	64757101	457.73	G	GG...	PASS	0/1	33	CODON_INSERTION	MODERATE	None							None None	None None None None	BATF2\|0.002740654\|89.17%
C1orf63
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	33011510240923_annotated	1	.	25573013	2830.77	G	A	PASS	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.96		None None	None None None None	RSRP1\|0.006794672\|83.71%
CBWD1
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	33011510240923_annotated	9	.	154795	1378.77	T	C	PASS	1/1	42	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.78694		0.23615				None None	None None None None	None
CMTM1
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	33011510240923_annotated	16	.	66600734	542.77	T	C	PASS	0/1	37	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CKLF-CMTM1\|0.010251686\|80.69%,CMTM1\|0.000243175\|99.65%
COL6A6
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	33011510240923_annotated	3	.	130380510	1550.77	C	T	PASS	0/1	155	STOP_GAINED	HIGH	None							None None	None None None None	COL6A6\|0.028594557\|70.13%
COLQ
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	33011510240923_annotated	3	.	15540093	2471.77	A	G	PASS	0/1	202	None	None	None				0.00	0.89		None None	None None None None	COLQ\|0.806228878\|5.64%