Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060505041
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1131692228
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1131692229
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1135401746
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1164484724
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs121434341
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs147484110
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.120 2 166002716 missense variant A/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1554301637
rs1554301637
LAMA2
0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1554699491
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0