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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
AC074212.3, AC104667.3, AKAP12, AKAP9, AL445989.1, ALMS1, ASPHD1, ATN1, BCL6B, BRI3BP, C18orf25, C9orf62, CELSR2, DCP1B, DLX6, DNHD1, EME1, EP400, FAM171B, FAM90A1, FASN, FRG1B, GOLGA6L4, HADHB, HAVCR1, HCLS1, HEG1, HOXD9, HRC, IFI27, KIAA2018, KIF20B, KRTAP5-10, KRTAP5-7, KRTAP5-8, KRTAP9-9, LCE4A, LINC00955, LNP1, LOR, LSR, LTF, M6PR, MAGEF1, MDS2, MUC3A, MUC4, NEFH, NOP9, NOTCH4, NR1H2, OR7C2, PALM2-AKAP2, PCLO, POU4F2, PPM1E, PRICKLE4, REC8, RTL1, SH3BGR, SHROOM4, SYNGR1, TMEM37, TTN, VEZF1, WDR66, ZBTB33, ZNF579, ZNF804A, ZNF880,

+ Genes associated with diseases 10

Genes at Omim

AKAP9, ALMS1, ATN1, HADHB, LOR, NEFH, PCLO, SHROOM4, TTN, WDR66,

AKAP9	?Long QT syndrome-11, 611820 (3)
ALMS1	Alstrom syndrome, 203800 (3)
ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
TTN	Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3)
WDR66	Spermatogenic failure 33, 618152 (3)

Genes at Clinical Genomics Database

AKAP9, ALMS1, ATN1, HADHB, LOR, NEFH, SHROOM4, TTN,

AKAP9	Long QT syndrome 11
ALMS1	Alstrom syndrome
ATN1	Dentatorubro-pallidoluysian atrophy
HADHB	Trifunctional protein deficiency
LOR	Vohwinkel syndrome, variant form
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G

Genes at HGMD

Summary

Number of Variants: 78
Number of Genes: 70

Export to: CSV

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AC074212.3
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	gordonsepilepsy normalized 2076	19	rs139434566 dbSNP Clinvar	46265047	2554.72	A	AT...	.	0/1	4	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	None
AC104667.3
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	gordonsepilepsy normalized 2076	2	rs146534321 dbSNP Clinvar	238499863	2044.2	A	AA...	.	1/1	2	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.51637	0.51640					None None	None None None None	RAB17\|0.004320407\|86.57%
AKAP12
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	gordonsepilepsy normalized 2076	6	rs3842128,rs113116275,rs34338625 dbSNP Clinvar	151674116	17016.5	T	TGAG	.	0/1	85	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.70387	0.70390	0.22056				None None	None None None None	AKAP12\|0.001631589\|92.22%
AKAP9
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	gordonsepilepsy normalized 2076	7	rs10644111,rs397825978 dbSNP Clinvar	91652178	3497.92	A	AAAC	.	0/1	35	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.42472	0.42470	0.47907				None None	None None None None	AKAP9\|0.267262044\|30.07%
AL445989.1
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	gordonsepilepsy normalized 2076	13	rs757251234 dbSNP Clinvar	64320959	2712.24	C	CC...	.	1/1	12	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	None
ALMS1
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	gordonsepilepsy normalized 2076	2	rs587621330,rs34628045 dbSNP Clinvar	73675227	23883.7	T	TCTC	.	1/1	66	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.60044	0.60040	0.44921				None None	None None None None	ALMS1\|0.012791041\|78.65%
ASPHD1
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	gordonsepilepsy normalized 2076	16	rs140411458,rs35784618 dbSNP Clinvar	29912802	13352.2	G	GGGT	.	1/1	7	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.20228	0.20230	0.35699				None None	None None None None	ASPHD1\|0.262036934\|30.55%
ATN1
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	gordonsepilepsy normalized 2076	12	.	7045891	9015.48	A	ACAG	.	0/1	42	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ATN1\|0.702926343\|8.41%
BCL6B
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	gordonsepilepsy normalized 2076	17	rs146207245,rs72254884 dbSNP Clinvar	6928019	4945.57	C	CCAG	.	1/1	6	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.66234	0.66230					None None	None None None None	BCL6B\|0.213572706\|35.16%
BRI3BP
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	gordonsepilepsy normalized 2076	12	rs546819378,rs61379857 dbSNP Clinvar	125478381	395.15	C	CCTG	.	1/1	3	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	BRI3BP\|0.039147799\|66.05%