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: rs1553642492
rs1553642492
MLH1
1.000 0.160 3 37008149 splice acceptor variant TTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTA/- del
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 0
dbSNP: rs786202193
rs786202193
MSH6 ; FBXO11
2 47791059 frameshift variant TTTTTTGATGACAG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587784145
rs587784145
NSD1
1.000 0.040 5 177269690 frameshift variant TTTTTTG/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		0.700 0
dbSNP: rs1805177
rs1805177
CFTR ; CFTR-AS1
0.925 0.160 7 117548629 splice acceptor variant TTTTTT/-;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 0
dbSNP: rs1805177
rs1805177
CFTR ; CFTR-AS1
0.925 0.160 7 117548629 splice acceptor variant TTTTTT/-;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 0
dbSNP: rs1805177
rs1805177
CFTR ; CFTR-AS1
0.925 0.160 7 117548629 splice acceptor variant TTTTTT/-;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT delins
CUI: C4017631
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF 		0.700 0
dbSNP: rs869025209
rs869025209
BBS10
1.000 0.120 12 76346120 frameshift variant TTTTTGGCAT/- delins
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 10 		0.700 1.000 1 2015 2015
dbSNP: rs281864801
rs281864801
PRKAR1A
0.925 0.160 17 68527824 splice acceptor variant TTTTTA/- delins
CUI: C0406810
Disease: Carney Complex
Carney Complex 		0.700 0
dbSNP: rs281864801
rs281864801
PRKAR1A
0.925 0.160 17 68527824 splice acceptor variant TTTTTA/- delins
CUI: C1864846
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder) 		0.700 0
dbSNP: rs766044684
rs766044684
NBN
1.000 0.040 8 89953438 frameshift variant TTTTT/-;T;TTTTTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs766044684
rs766044684
NBN
1.000 0.040 8 89953438 frameshift variant TTTTT/-;T;TTTTTT delins
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.700 0
dbSNP: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		0.700 0
dbSNP: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		0.700 0
dbSNP: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.700 0
dbSNP: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.700 0
dbSNP: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs80357575
rs80357575
BRCA1
0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1996 2017
dbSNP: rs80357575
rs80357575
BRCA1
0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 1996 2006
dbSNP: rs80357575
rs80357575
BRCA1
0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs1555534307
rs1555534307
NF1
1.000 0.120 17 31334377 splice donor variant TTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAATT/- delins
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.700 0
dbSNP: rs1553548018
rs1553548018
NEB ; RIF1
1.000 0.080 2 151496951 frameshift variant TTTTCTT/- del
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 0
dbSNP: rs80359872
rs80359872
BRCA1
0.925 0.200 17 43094516 frameshift variant TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359872
rs80359872
BRCA1
0.925 0.200 17 43094516 frameshift variant TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs1557135016
rs1557135016
MECP2
1.000 0.080 X 154030482 splice acceptor variant TTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCT/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0