Variants from Kasturba Medical College,Manipal University

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	total
12	4	7	0	0	1	24

Gene and significance breakdown #

Total genes and gene combinations: 18

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	association	total
MITF	3	1	0	0	4
EDNRB	1	0	1	0	2
PAX3	1	1	0	0	2
POLR2F, SOX10	1	0	1	0	2
ADGRV1	1	0	0	0	1
AIMP2	0	0	1	0	1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1F0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10	1	0	0	0	1
EDN3	0	1	0	0	1
GJB2	1	0	0	0	1
ISCA1	1	0	0	0	1
KIF26A	0	0	0	1	1
KLHL7	0	0	1	0	1
MGME1	1	0	0	0	1
PIBF1	0	0	1	0	1
PTH1R	0	0	1	0	1
PTH2R	0	1	0	0	1
SNX14	1	0	0	0	1
TYR	0	0	1	0	1

Condition and significance breakdown #

Total conditions: 20

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Condition	pathogenic	likely pathogenic	uncertain significance	association	total
Waardenburg syndrome type 1	1	1	0	0	2
Waardenburg syndrome type 2A	2	0	0	0	2
Waardenburg syndrome type 2E	1	0	1	0	2
Waardenburg syndrome type 4A	1	0	1	0	2
Cold-induced sweating syndrome 3	0	0	1	0	1
Congenital sensorineural hearing impairment	1	0	0	0	1
Deafness, autosomal recessive 1A	1	0	0	0	1
Eiken skeletal dysplasia	0	0	1	0	1
Hereditary spastic paraplegia	0	0	0	1	1
Joubert syndrome	0	0	1	0	1
Mitochondrial DNA depletion syndrome 11	1	0	0	0	1
Multiple mitochondrial dysfunctions syndrome	1	0	0	0	1
Neurodevelopmental abnormality	0	0	1	0	1
Oculocutaneous albinism	0	0	1	0	1
Spinocerebellar ataxia, autosomal recessive 20	1	0	0	0	1
Syndromic intellectual disability	0	1	0	0	1
Tietz syndrome; Waardenburg syndrome type 2A	0	1	0	0	1
Usher syndrome, type 2C	1	0	0	0	1
Waardenburg syndrome type 4B	0	1	0	0	1
Waardenburg syndrome type 4C	1	0	0	0	1

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