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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AARS2, ADTRP, ALDH5A1, APOM, ARMC2, ATP6V1G2-DDX39B, ATXN1, BAG6, BLOC1S5, BTN1A1, BTN2A1, BTN2A2, BTN3A3, C2, C4A, C6orf10, C6orf222, C6orf229, C6orf47, C6orf52, CAGE1, CAP2, CAPN11, CD2AP, CDKAL1, CDYL, COL12A1, CPNE5, CSNK2B, CTGF, CYP21A2, DAXX, DCDC2, DDX39B, DEK, DHX16, DLL1, DNAH8, DPCR1, DSP, DST, DUSP22, E2F3, ECI2, EDN1, ELOVL2, ELOVL5, FAM217A, FAM65B, FAM8A1, FANCE, FARS2, FGD2, FKBPL, FOXQ1, GCLC, GCM1, GCM2, GCNT2, GFOD1, GMDS, GMPR, GPLD1, GPR63, HCG27, HDGFL1, HIST1H1T, HIST1H2AA, HIST1H2AD, HIST1H2BC, HIST1H4C, HIVEP1, HLA-DOA, HSD17B8, HSF2, HSP90AB1, HUS1B, ICK, IER3, IGF2R, IP6K3, ITPR3, JARID2, KDM1B, KIAA0319, KIF13A, KIF6, LAMA2, LATS1, LRRC16A, LY6G5C, LY86, LYRM4, MAK, MAP3K5, MCUR1, MDC1, MOCS1, MRS2, MYLIP, MYLK4, NCR3, NEDD9, NFKBIE, NKAPL, NOL7, NOTCH4, NRN1, NUP153, NUP43, OFCC1, OR2H2, PAQR8, PBX2, PHACTR1, PHIP, POU5F1, PPP1R3G, PPP2R5D, PRDM1, PRL, PRPF4B, PSMG4, PTCRA, PXDC1, RANBP9, RBM24, REV3L, RIMS1, RIOK1, RIPK1, RNF144B, RNF182, RPP40, RPS6KA2, RREB1, RXRB, SAYSD1, SBP1, SCGN, SDIM1, SERPINB1, SERPINB6, SLC17A4, SLC22A3, SLC39A7, SMPD2, SNRNP48, SNX9, SOD2, SOX4, SSR1, STMND1, SYCP2L, SYNGAP1, TAP1, TBC1D7, TCF19, TDP2, TDRD6, TFAP2A, TMEM14C, TMEM244, TNXB, TPMT, TRERF1, TRIM15, TRIM26, TTLL2, TUBB2A, UBR2, VARS, VWA7, WRNIP1, ZBTB12, ZC3H12D, ZDHHC14, ZNF318, ZSCAN31,

+ Genes associated with diseases 43

Genes at Omim

AARS2, ALDH5A1, ATXN1, C2, C4A, CD2AP, COL12A1, CYP21A2, DCDC2, DEK, DSP, DST, EDN1, ELOVL5, FANCE, FARS2, GCLC, GCM2, GCNT2, ICK, IGF2R, ITPR3, LAMA2, LYRM4, MAK, MOCS1, NCR3, PHACTR1, PHIP, PPP2R5D, RIMS1, RIPK1, SERPINB6, SOD2, SYNGAP1, TAP1, TBC1D7, TDP2, TFAP2A, TNXB, TPMT, TUBB2A, VARS,

AARS2	Combined oxidative phosphorylation deficiency 8, 614096 (3) Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
C2	C2 deficiency, 217000 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
CD2AP	Glomerulosclerosis, focal segmental, 3, 607832 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2	?Deafness, autosomal recessive 66, 610212 (3) Nephronophthisis 19, 616217 (3) Sclerosing cholangitis, neonatal, 617394 (3)
DEK	Leukemia, acute nonlymphocytic (2)
DSP	Arrhythmogenic right ventricular dysplasia 8, 607450 (3) Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) Epidermolysis bullosa, lethal acantholytic, 609638 (3) Keratosis palmoplantaris striata II, 612908 (3) Skin fragility-woolly hair syndrome, 607655 (3)
DST	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
EDN1	{High density lipoprotein cholesterol level QTL 7} (3) Auriculocondylar syndrome 3, 615706 (3) Question mark ears, isolated, 612798 (3)
ELOVL5	Spinocerebellar ataxia 38, 615957 (3)
FANCE	Fanconi anemia, complementation group E, 600901 (3)
FARS2	Combined oxidative phosphorylation deficiency 14, 614946 (3) Spastic paraplegia 77, autosomal recessive, 617046 (3)
GCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3) {Myocardial infarction, susceptibility to}, 608446 (3)
GCM2	Hyperparathyroidism 4, 617343 (3) Hypoparathyroidism, familial isolated, 146200 (3)
GCNT2	Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3)
ICK	Endocrine-cerebroosteodysplasia, 612651 (3) {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
ITPR3	{Diabetes, type 1, susceptibility to}, 222100 (2)
LAMA2	Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LYRM4	?Combined oxidative phosphorylation deficiency 19, 615595 (3)
MAK	Retinitis pigmentosa 62, 614181 (3)
MOCS1	Molybdenum cofactor deficiency A, 252150 (3)
NCR3	{Malaria, mild, susceptibility to}, 609148 (3)
PHACTR1	Epileptic encephalopathy, early infantile, 70, 618298 (3)
PHIP	Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
PPP2R5D	Mental retardation, autosomal dominant 35, 616355 (3)
RIMS1	Cone-rod dystrophy 7, 603649 (3)
RIPK1	Immunodeficiency 57, 618108 (3)
SERPINB6	?Deafness, autosomal recessive 91, 613453 (3)
SOD2	{Microvascular complications of diabetes 6}, 612634 (3)
SYNGAP1	Mental retardation, autosomal dominant 5, 612621 (3)
TAP1	Bare lymphocyte syndrome, type I, 604571 (3)
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
TDP2	Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TFAP2A	Branchiooculofacial syndrome, 113620 (3)
TNXB	Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3)
TPMT	{Thiopurines, poor metabolism of, 1}, 610460 (3)
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
VARS	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)

Genes at Clinical Genomics Database

AARS2, ALDH5A1, ATXN1, C2, C4A, CD2AP, COL12A1, CYP21A2, DCDC2, DLL1, DSP, DST, EDN1, ELOVL5, FAM65B, FANCE, FARS2, GCLC, GCM2, GCNT2, ICK, LAMA2, LYRM4, MAK, MOCS1, PPP2R5D, RIMS1, SERPINB6, SYNGAP1, TAP1, TBC1D7, TDP2, TFAP2A, TNXB, TPMT, TUBB2A,

AARS2	Leukoencephalopathy, progressive, with ovarian failure
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency
ATXN1	Spinocerebellar ataxia 1
C2	Complement component 2 deficiency
C4A	Blood group, Chido/Rodgers system
CD2AP	Focal segmental glomerulosclerosis 3
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DCDC2	Deafness, autosomal recessive 66
DLL1	Holoprosencephaly
DSP	Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST	Neuropathy, hereditary sensory and autonomic, type VI
EDN1	Dominant Isolated Question-Mark Ears Auriculocondylar Syndrome 3
ELOVL5	Spinocerebellar ataxia 39
FAM65B	Deafness, autosomal recessive 104
FANCE	Fanconi anemia, complementation group E
FARS2	Combined oxidative phosphorylation deficiency 14
GCLC	Gamma-glutamylcysteine synthetase deficiency
GCM2	Hypoparathyroidism, familial isolated
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
ICK	Endocrine-cerebroosteodysplasia
LAMA2	Muscular dystrophy, congenital merosin-deficient, 1A Schizophrenia
LYRM4	Combined oxidative phosphorylation deficiency 19
MAK	Retinitis pigmentosa 62
MOCS1	Molybdenum cofactor deficiency, type A
PPP2R5D	Mental retardation, autosomal dominant 35
RIMS1	Cone-rod dystrophy 7
SERPINB6	Deafness, autosomal recessive 91
SYNGAP1	Mental retardation, autosomal dominant 5
TAP1	Bare lymphocyte syndrome, type I
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive
TDP2	Spinocerebellar ataxia, autosomal recessive 23
TFAP2A	Branchiooculofacial sydrome
TNXB	Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPMT	Thiopurine S-methyltransferase deficiency
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5

Genes at HGMD

Summary

Number of Variants: 8357
Number of Genes: 179

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AARS2
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	1352s	6	.	44272927	130.13	C	T	PASS	0/1	15	SYNONYMOUS_CODING	LOW								None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
ADTRP
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	1352s	6	.	11770279	701.16	T	G	PASS	0/1	22	None	None	None							None None	None None None None	ADTRP\|0.023894479\|72.25%
	View	1352s	6	.	11778855	1046.92	C	T	PASS	0/1	27	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.01	0.00		None None	None None None None	ADTRP\|0.023894479\|72.25%
ALDH5A1
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	1352s	6	.	24505126	334.13	G	A	PASS	0/1	24	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ALDH5A1\|0.036674729\|66.91%
APOM
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	1352s	6	.	31624305	2497.13	C	A	PASS	0/1	150	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	APOM\|0.162107126\|41.28%
	View	1352s	6	.	31625043	1130.92	C	T	PASS	0/1	29	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	APOM\|0.162107126\|41.28%
ARMC2
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	1352s	6	.	109286246	1417.92	C	T	PASS	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE							None None	None None None None	ARMC2\|0.059551834\|60.01%
	View	1352s	6	rs774806989 dbSNP Clinvar	109286285	1764.92	G	A	PASS	0/1	51	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ARMC2\|0.059551834\|60.01%
ATP6V1G2-DDX39B
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	1352s	6	.	31509904	6668.16	A	G	PASS	0/1	100	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.28	0.00		None None	None None None None	DDX39B\|0.561131797\|13.31%
ATXN1
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	1352s	6	.	16327099	4401.92	T	C	PASS	0/1	119	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE							None None	None None None None	ATXN1\|0.832563526\|5.05%
	View	1352s	6	.	16327384	10929.9	A	G	PASS	1/1	107	SYNONYMOUS_CODING	LOW								None None	None None None None	ATXN1\|0.832563526\|5.05%
	View	1352s	6	.	16307064	390.92	C	G	PASS	0/1	9	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ATXN1\|0.832563526\|5.05%
BAG6
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	1352s	6	.	31615378	3786.92	G	A	PASS	0/1	86	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.11	0.45		None None	None None None None	BAG6\|0.203831216\|36.26%
BLOC1S5
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