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: rs1554199368
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1557045296
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886039909
rs886039909
HSPG2
0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555565774
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1561964103
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs112795301
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555528356
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1567941252
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs753317536
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2016 2016