Variants from Medical Research Institute, Tokyo Medical and Dental University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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
9	17	28	74	0	1	129

Gene and significance breakdown #

Total genes and gene combinations: 101

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	association	total
RYR2	0	0	8	0	0	8
INSR	5	0	0	0	0	5
KCNQ1	0	4	0	0	0	4
UBR4	0	0	4	0	0	4
ANK2	0	3	0	0	0	3
KCNH2	0	3	0	0	0	3
AKAP9	0	2	0	0	0	2
CIT	0	0	2	0	0	2
KIF21B	0	0	2	0	0	2
NOS1AP	0	0	2	0	0	2
PI4KA	0	0	2	0	0	2
UBR5	0	0	2	0	0	2
WDR26	0	0	2	0	0	2
ABCF1	0	0	0	1	0	1
AKAP8	0	0	0	1	0	1
ANK2, LOC126807136	0	1	0	0	0	1
ANKRD31	0	0	0	1	0	1
ARHGAP22	0	0	0	1	0	1
ARL13B	0	0	0	1	0	1
ARVCF	0	0	0	1	0	1
ASPM	1	0	0	0	0	1
ATL3	0	0	0	1	0	1
BAIAP3	0	0	0	1	0	1
CAV3	0	1	0	0	0	1
CCDC168	0	0	0	1	0	1
CCN3	0	0	0	1	0	1
CD276	0	0	0	1	0	1
CELSR1	0	0	0	1	0	1
CTRL	0	0	0	1	0	1
DIP2A	0	0	0	1	0	1
DNA2	0	0	0	1	0	1
ELMOD2	0	0	0	1	0	1
ERAP1	0	0	0	1	0	1
FGF2, LOC109113863	0	0	0	1	0	1
FSIP2	0	0	0	1	0	1
GPATCH2	0	0	0	1	0	1
GUF1	0	0	0	1	0	1
HK3	0	0	0	1	0	1
HKDC1	0	0	0	1	0	1
HNRNPM	0	0	0	1	0	1
INTS8	0	0	0	1	0	1
KCNE1	0	1	0	0	0	1
KIF11	0	0	0	1	0	1
KLRG1, PZP	0	0	0	1	0	1
LMNA, LOC129931597	1	0	0	0	0	1
LOC126806068, RYR2	0	0	1	0	0	1
LOC130004408, TCTN3	0	0	0	1	0	1
LRBA	0	0	0	1	0	1
LRRC8E	0	0	0	1	0	1
MC4R	1	0	0	0	0	1
MDN1	0	0	0	1	0	1
MKI67	0	0	0	1	0	1
MYBPHL	0	0	0	1	0	1
MYLK4	0	0	0	1	0	1
NET1	0	0	0	1	0	1
NLRP13	0	0	0	1	0	1
NLRX1	0	0	0	1	0	1
NR5A2	0	0	0	1	0	1
NRIP1	0	0	0	1	0	1
PIK3CG	0	0	1	0	0	1
PKD1L2	0	0	0	1	0	1
PLCB4	0	0	0	1	0	1
POLRMT	0	0	0	1	0	1
PROKR1	0	0	0	1	0	1
PRSS12	0	0	0	1	0	1
PRSS57	0	0	0	1	0	1
PTOV1	0	0	0	1	0	1
RALGAPA1	0	0	0	1	0	1
REM1	0	0	0	1	0	1
RIMS1	0	0	1	0	0	1
RTEL1-TNFRSF6B, TNFRSF6B	0	0	0	1	0	1
SCN5A	0	1	0	0	0	1
SDC1	0	0	0	1	0	1
SHANK3	0	0	0	1	0	1
SIDT1	0	0	0	1	0	1
SIRT6	0	0	1	0	0	1
SLC2A5	0	0	0	0	1	1
SLC6A17	0	0	0	1	0	1
SNAPC4	0	0	0	1	0	1
SNAPC5	0	0	0	1	0	1
SND1	0	0	0	1	0	1
SNTA1	0	1	0	0	0	1
STK32B	0	0	0	1	0	1
SYK	0	0	0	1	0	1
TBC1D4	1	0	0	0	0	1
TDRD6	0	0	0	1	0	1
TGFBRAP1	0	0	0	1	0	1
TLNRD1	0	0	0	1	0	1
TOP2A	0	0	0	1	0	1
TRHDE	0	0	0	1	0	1
TRMU	0	0	0	1	0	1
UBR7	0	0	0	1	0	1
UPP1	0	0	0	1	0	1
USP19	0	0	0	1	0	1
VSX1	0	0	0	1	0	1
WDR25	0	0	0	1	0	1
WWC2	0	0	0	1	0	1
YME1L1	0	0	0	1	0	1
ZNF174	0	0	0	1	0	1
ZNF341	0	0	0	1	0	1
ZNF862	0	0	0	1	0	1

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	association	total
Long QT syndrome	0	17	28	74	1	120
Insulin resistance	2	0	0	0	0	2
Rabson-Mendenhall syndrome	2	0	0	0	0	2
Insulin-resistant diabetes mellitus AND acanthosis nigricans	1	0	0	0	0	1
Leprechaunism syndrome	1	0	0	0	0	1
Lipodystrophy	1	0	0	0	0	1
Microcephaly 5, primary, autosomal recessive	1	0	0	0	0	1
Obesity	1	0	0	0	0	1

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