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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA3, ADNP2, AL049840.1, ANKRD60, ARHGAP23, ASF1B, ASIC3, ATP2B3, BCL11A, BRCA1, BRCA2, C19orf73, C7orf50, CACNA1B, CCDC155, CDC42EP4, CELSR2, CEP104, CHRND, CLCN7, COL13A1, DES, ELANE, FBLN2, FLNB, HARBI1, HID1, HMHA1, IGHV5-51, IL12RB1, IL17REL, ITIH4, KIR2DL4, KNDC1, LRRK1, LTBP2, MAP10, MCM3AP, MEGF6, NAV1, NTF4, NUMB, OBSCN, PCNT, POLR1C, PREX1, PRKCA, PROM2, RRP12, SEMA4B, SETX, SGCA, SH2D3C, SH3BP2, SLC19A1, SLC25A47, SLC2A3, TCOF1, TERT, THBS2, TMEM256-PLSCR3, TRAF7, TRPM5, TSSC4, URGCP, WDR91, XPO1, ZMYND15, ZNF410,

+ Genes associated with diseases 29

Genes at Omim

ABCA3, ATP2B3, BCL11A, BRCA1, BRCA2, CACNA1B, CEP104, CHRND, CLCN7, COL13A1, DES, ELANE, FLNB, IL12RB1, ITIH4, LTBP2, MCM3AP, NTF4, PCNT, POLR1C, PRKCA, SETX, SGCA, SH3BP2, TCOF1, TERT, THBS2, TRAF7, ZMYND15,

ABCA3	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
BCL11A	Dias-Logan syndrome, 617101 (3)
BRCA1	Fanconi anemia, complementation group S, 617883 (3) {Pancreatic cancer, susceptibility to, 4}, 614320 (3) {Breast-ovarian cancer, familial, 1}, 604370 (3)
BRCA2	Fanconi anemia, complementation group D1, 605724 (3) {Glioblastoma 3}, 613029 (3) {Medulloblastoma}, 155255 (3) {Pancreatic cancer 2}, 613347 (3) {Prostate cancer}, 176807 (3) Wilms tumor, 194070 (3) {Breast cancer, male, susceptibility to}, 114480 (3) {Breast-ovarian cancer, familial, 2}, 612555 (3)
CACNA1B	?Dystonia 23, 614860 (3)
CEP104	Joubert syndrome 25, 616781 (3)
CHRND	Multiple pterygium syndrome, lethal type, 253290 (3) Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3) ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3) ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3)
CLCN7	Osteopetrosis, autosomal dominant 2, 166600 (3) Osteopetrosis, autosomal recessive 4, 611490 (3)
COL13A1	Myasthenic syndrome, congenital, 19, 616720 (3)
DES	Cardiomyopathy, dilated, 1I, 604765 (3) Myopathy, myofibrillar, 1, 601419 (3) Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
ELANE	Neutropenia, cyclic, 162800 (3) Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
FLNB	Atelosteogenesis, type I, 108720 (3) Atelosteogenesis, type III, 108721 (3) Boomerang dysplasia, 112310 (3) Larsen syndrome, 150250 (3) Spondylocarpotarsal synostosis syndrome, 272460 (3)
IL12RB1	Immunodeficiency 30, 614891 (3)
ITIH4	{Hypercholesterolemia, susceptibility to}, 143890 (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)
MCM3AP	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NTF4	Glaucoma 1, open angle, 1O, 613100 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
POLR1C	Leukodystrophy, hypomyelinating, 11, 616494 (3) Treacher Collins syndrome 3, 248390 (3)
PRKCA	Pituitary tumor, invasive (3)
SETX	Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SGCA	Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3)
SH3BP2	Cherubism, 118400 (3)
TCOF1	Treacher Collins syndrome 1, 154500 (3)
TERT	{Leukemia, acute myeloid}, 601626 (3) {Melanoma, cutaneous malignant, 9}, 615134 (3) {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3) {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3) {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
THBS2	{Lumbar disc herniation, susceptibility to}, 603932 (3)
TRAF7	Cardiac, facial, and digital anomalies with developmental delay, 618164 (3)
ZMYND15	?Spermatogenic failure 14, 615842 (3)

Genes at Clinical Genomics Database

ABCA3, ATP2B3, BCL11A, BRCA1, BRCA2, CACNA1B, CHRND, CLCN7, COL13A1, DES, ELANE, FLNB, IL12RB1, LTBP2, NTF4, PCNT, POLR1C, SETX, SGCA, SH3BP2, TCOF1, TERT, ZMYND15,

ABCA3	Surfactant metabolism dysfunction, pulmonary, 3 Interstitial lung disease
ATP2B3	Spinocerebellar ataxia, X-linked 1
BCL11A	Severe speech sound disorder
BRCA1	Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4
BRCA2	Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma
CACNA1B	Dystonia 23
CHRND	Myasthenic syndrome, congenital, fast channel Myasthenic syndrome,congenital, slow-channel Myasthenic syndrome, congenital, 3C
CLCN7	Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4
COL13A1	Myasthenic syndrome, congenital, 19
DES	Myopathy, myofibrillar 1 Cardiomyopathy, dilated, 1I
ELANE	Neutropenia, severe congenital 1, autosomal dominant Neutropenia, cyclic
FLNB	Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III
IL12RB1	Immunodeficiency 30
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
NTF4	Glaucoma 1, open angle, O
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
POLR1C	Treacher Collins syndrome 3
SETX	Spinocerebellar ataxia, autosomal recessive 1 Amyotrophic lateral sclerosis 4, juvenile Ataxia with oculomotor apraxia, type 2
SGCA	Muscular dystrophy, limb-girdle, type 2D
SH3BP2	Cherubism
TCOF1	Treacher Collins syndrome 1
TERT	Aplastic anemia Dyskeratosis congenita, autosomal dominant Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
ZMYND15	Spermatogenic failure 14

Genes at HGMD

Summary

Number of Variants: 102
Number of Genes: 69

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ABCA3
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	21_s21	16	.	2328445	47.91	C	G	LowVariantFreq	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	1.00		None None	None None None None	ABCA3\|0.043607901\|64.64%
ADNP2
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	21_s21	18	.	77894342	14.92	C	T	LowGQX;LowGQ	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.01		None None	None None None None	ADNP2\|0.014262869\|77.65%
	View	21_s21	18	.	77894581	10.43	G	A	LowGQX;LowGQ	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.38	0.99		None None	None None None None	ADNP2\|0.014262869\|77.65%
AL049840.1
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	21_s21	14	.	104177788	353.04	C	T	PASS	1/1	14	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	XRCC3\|0.02048833\|73.92%
ANKRD60
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	21_s21	20	.	56796510	4.25	G	A	LowGQX	0/1	4	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	1.00		None None	None None None None	ANKRD60\|0.001529196\|92.64%
ARHGAP23
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	21_s21	17	.	36623087	14.92	G	A	LowGQX;LowGQ	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.31	0.00		None None	None None None None	ARHGAP23\|0.124657713\|46.71%
ASF1B
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	21_s21	19	rs111352746 dbSNP Clinvar	14247195	7.78	T	C	LowGQX;LowGQ	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.37		None None	None None None None	ASF1B\|0.250445793\|31.49%
ASIC3
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	21_s21	7	.	150746102	84.99	A	G	LowGQX;LowGQ	1/1	5	NON_SYNONYMOUS_CODING	MODERATE	None				0.05	0.00		None None	None None None None	ASIC3\|0.064485136\|58.73%
ATP2B3
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	21_s21	X	.	152845610	58.29	G	A	LowGQX;LowGQ	1/1	4	NON_SYNONYMOUS_CODING	MODERATE	None				0.27	0.01		None None	None None None None	ATP2B3\|0.203946244\|36.25%
BCL11A
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	21_s21	2	.	60687850	7.78	G	T	LowGQX;LowGQ	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	BCL11A\|0.997484889\|0.61%
BRCA1
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