GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
STRC F60Sinsufficiently evaluated not reviewed, f=0.217unknown var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19129-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
STRC Q84Rinsufficiently evaluated not reviewed, f=1.000unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18505-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
STRC H1298Rinsufficiently evaluated not reviewed, f=0.220unknown hu3215A7 build 36 substitution variants (hom)
hu728FFF build 36 substitution variants (hom)
STRC Q1353Xlikely pathogenicdominant

Reported by ClinVar to cause deafness in a dominant manner (https://www.ncbi.nlm.nih.gov/clinvar/variation/236066/). In ClinVar this variant is reported as a “pathogenic” cause of this disease by a single source, the Laboratory of Prof. Karen Avraham,Tel Aviv University. This submission does not reference any published literature. This variant is rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/15-43896918-G-A).

STRC R1521Qinsufficiently evaluated none, f=0.043unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
var-GS19669-1100-36-ASM
STRC R1541Linsufficiently evaluated noneunknown
Total results: 6

Gene search

"GENE" or "GENE A123C":

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