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Genes:
ACOT2, ADARB2, ALS2, ARID4B, ATP13A2, ATR, C9orf50, CALD1, CCND1, CDHR2, CNOT4, COIL, COX6C, CPSF6, CRB2, EEF1D, EEF1G, ETV1, FIG4, FRAS1, GBA, GLT8D1, GRN, HNRNPCL1, HNRNPDL, HNRNPM, HSPA1L, HSPA8, IGF2BP3, ILF3, KIFAP3, LAIR1, LRRK2, LTBP2, MTHFSD, MYH11, NACA, NACA2, NARS, NCAPG, NOL8, PABPC1, PABPC1L, PABPC3, PARK2, PNPLA2, PPARGC1A, PPARGC1B, PRRC2A, PSPC1, PTBP2, RALY, RBM12, RBM12B, RBM12B-AS1, RBM15, RBM19, RBM23, RBM26, RBM39, RBM46, RBM47, RBM5, RBM7, RBMX, RBMXL1, RBMXL2, RBMXL3, RICTOR, RNPC3, RNPS1, RTL1, SAFB, SART3, SCAF11, SCAMP3, SKOR1, SMCR8, SPEN, SPG11, SUCLG2, SYT1, TDRD10, TIAL1, TPM2, UBE3C, UNC13A, USP43, XRCC5, YBX3, ZCRB1, ZNF638, ZRSR2,

+ Genes associated with diseases 22

Genes at Omim

ALS2, ATP13A2, ATR, CCND1, CRB2, FIG4, FRAS1, GBA, GRN, HNRNPDL, LRRK2, LTBP2, MYH11, PNPLA2, PPARGC1B, RBM12, RBM15, RBMX, RNPC3, SPG11, SYT1, TPM2,

ALS2	Amyotrophic lateral sclerosis 2, juvenile, 205100 (3) Primary lateral sclerosis, juvenile, 606353 (3) Spastic paralysis, infantile onset ascending, 607225 (3)
ATP13A2	Kufor-Rakeb syndrome, 606693 (3) Spastic paraplegia 78, autosomal recessive, 617225 (3)
ATR	Seckel syndrome 1, 210600 (3) ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
CCND1	{Colorectal cancer, susceptibility to}, 114500 (3) {Multiple myeloma, susceptibility to}, 254500 (3) {von Hippel-Lindau syndrome, modifier of}, 193300 (3)
CRB2	Focal segmental glomerulosclerosis 9, 616220 (3) Ventriculomegaly with cystic kidney disease, 219730 (3)
FIG4	Amyotrophic lateral sclerosis 11, 612577 (3) Charcot-Marie-Tooth disease, type 4J, 611228 (3) Yunis-Varon syndrome, 216340 (3) ?Polymicrogyria, bilateral temporooccipital, 612691 (3)
FRAS1	Fraser syndrome 1, 219000 (3)
GBA	{Lewy body dementia, susceptibility to}, 127750 (3) {Parkinson disease, late-onset, susceptibility to}, 168600 (3) Gaucher disease, perinatal lethal, 608013 (3) Gaucher disease, type I, 230800 (3) Gaucher disease, type II, 230900 (3) Gaucher disease, type III, 231000 (3) Gaucher disease, type IIIC, 231005 (3)
GRN	Aphasia, primary progressive, 607485 (3) Ceroid lipofuscinosis, neuronal, 11, 614706 (3) Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)
HNRNPDL	Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (3)
LRRK2	{Parkinson disease 8}, 607060 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MYH11	Aortic aneurysm, familial thoracic 4, 132900 (3)
PNPLA2	Neutral lipid storage disease with myopathy, 610717 (3)
PPARGC1B	{Obesity, variation in}, 601665 (3)
RBM12	{Schizophrenia 19, susceptibility to}, 617629 (3)
RBM15	Megakaryoblastic leukemia, acute (2)
RBMX	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RNPC3	?Growth hormone deficiency, isolated, type V, 618160 (3)
SPG11	Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) Spastic paraplegia 11, autosomal recessive, 604360 (3)
SYT1	Baker-Gordon syndrome, 618218 (3)
TPM2	Arthrogryposis multiplex congenita, distal, type 1, 108120 (3) Arthrogryposis, distal, type 2B, 601680 (3) CAP myopathy 2, 609285 (3) Nemaline myopathy 4, autosomal dominant, 609285 (3)

Genes at Clinical Genomics Database

ALS2, ATP13A2, ATR, CRB2, FIG4, FRAS1, GBA, GRN, HNRNPDL, HSPA1L, LRRK2, LTBP2, MYH11, PARK2, PNPLA2, RBMX, SART3, SPG11, TPM2,

ALS2	Spastic paralysis, infantile onset ascending Primary lateral sclerosis, juvenile Amyotrophic lateral sclerosis 2
ATP13A2	Parkinson disease 9 (Kufor-Rakeb syndrome) Ceroid lipofuscinosis, neuronal, 12
ATR	Cutaneous telangiectasia and cancer syndrome, familial Seckel syndrome 1
CRB2	Focal segmental glomerulosclerosis 9 Ventriculomegaly with cystic kidney disease
FIG4	Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome
FRAS1	Fraser syndrome
GBA	Gaucher disease
GRN	Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related Neuronal ceroid lipofuscinosis 11
HNRNPDL	Limb-girdle muscular dystrophy, type 1G
HSPA1L	Abacavir, susceptibility to toxicity with
LRRK2	Parkinson disease 8 Dementia, Lewy body
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MYH11	Aortic aneurysm, familial thoracic 4
PARK2	Parkinson disease 2, autosomal recessive juvenile
PNPLA2	Neutral lipid storage disease with myopathy
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
SART3	Porokeratosis, disseminated superficial actinic, 1
SPG11	Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11
TPM2	Nemaline myopathy 4 CAP myopathy Arthrogryposis, distal, type 1A Arthrogryposis, distal, type 2B

Genes at HGMD

Summary

Number of Variants: 1590
Number of Genes: 93

Export to: CSV

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ACOT2
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	ldp546	14	rs146968042 dbSNP Clinvar	74036500	60.72	C	T	.	0/1	13	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.00799	0.00799	0.01397	0.02	0.01		None None	None None None None	ACOT2\|0.010972761\|80.08%
ADARB2
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	ldp546	10	rs2271275 dbSNP Clinvar	1230968	89.58	C	T	.	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None	0.54313	0.54310	0.43947	0.25	0.02		None None	None None None None	ADARB2\|0.14627916\|43.56%
ALS2
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	ldp546	2	rs3219168 dbSNP Clinvar	202575821	223.33	G	A	.	0/1	29	SYNONYMOUS_CODING	LOW	None	0.90535	0.90540	0.11000				None None	None None None None	ALS2\|0.517655143\|15.08%
	View	ldp546	2	rs3219156 dbSNP Clinvar	202625615	684.29	C	T	.	0/1	61	NON_SYNONYMOUS_CODING	MODERATE	None	0.89657	0.89660	0.13855	0.15	0.00		None None	None None None None	ALS2\|0.517655143\|15.08%
	View	ldp546	2	rs2276615 dbSNP Clinvar	202598113	99.0	C	T	.	0/1	25	SYNONYMOUS_CODING	LOW	None	0.37240	0.37240	0.46800				None None	None None None None	ALS2\|0.517655143\|15.08%
ARID4B
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	ldp546	1	.	235324553	263.24	A	G	.	0/1	45	None	None	None							None None	None None None None	RBM34\|0.046898897\|63.63%,ARID4B\|0.332554915\|25.29%
ATP13A2
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	ldp546	1	rs9435662 dbSNP Clinvar	17314942	46.55	G	A	.	0/1	26	SYNONYMOUS_CODING	LOW	None	0.33866	0.33870	0.41542				None None	None None None None	ATP13A2\|0.211936486\|35.38%
	View	ldp546	1	rs9435659 dbSNP Clinvar	17313343	153.19	G	A	.	0/1	28	SYNONYMOUS_CODING	LOW	None	0.33846	0.33850	0.41642				None None	None None None None	ATP13A2\|0.211936486\|35.38%
	View	ldp546	1	rs761421 dbSNP Clinvar	17313654	58.59	C	T	.	0/1	8	SYNONYMOUS_CODING	LOW	None	0.34625	0.34620	0.42556				None None	None None None None	ATP13A2\|0.211936486\|35.38%
	View	ldp546	1	rs3170740 dbSNP Clinvar	17312743	32.37	C	T	.	0/1	7	SYNONYMOUS_CODING	LOW	None	0.33127	0.33130	0.42132				None None	None None None None	ATP13A2\|0.211936486\|35.38%
	View	ldp546	1	rs2076603 dbSNP Clinvar	17319011	210.4	G	A	.	0/1	23	SYNONYMOUS_CODING	LOW	None	0.44848	0.44850	0.43072				None None	None None None None	ATP13A2\|0.211936486\|35.38%
	View	ldp546	1	rs3738815 dbSNP Clinvar	17314702	381.54	C	T	.	0/1	51	SYNONYMOUS_CODING	LOW	None	0.29094	0.29090	0.17807				None None	None None None None	ATP13A2\|0.211936486\|35.38%
ATR
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	ldp546	3	rs2227929 dbSNP Clinvar	142277536	139.02	A	G	.	0/1	21	SYNONYMOUS_CODING	LOW	None	0.31070	0.31070	0.34576				None None	None None None None	ATR\|0.696057424\|8.61%
	View	ldp546	3	rs2227930 dbSNP Clinvar	142277575	91.71	A	T	.	0/1	14	SYNONYMOUS_CODING	LOW	None	0.59804	0.59800	0.33700				None None	None None None None	ATR\|0.696057424\|8.61%
C9orf50
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	ldp546	9	rs2302779 dbSNP Clinvar	132375432	64.61	C	T	.	0/1	10	NON_SYNONYMOUS_CODING	MODERATE	None	0.21246	0.21250	0.14463	0.32	0.56		None None	None None None None	NTMT1\|0.139033566\|44.54%,C9orf50\|0.000870647\|96.23%
CALD1
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	ldp546	7	rs6973420 dbSNP Clinvar	134618710	151.07	A	G	.	0/1	28	NON_SYNONYMOUS_CODING	MODERATE	None	0.50839	0.50840	0.45041	0.51	0.00		None None	None None None None	CALD1\|0.408108542\|20.29%