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: rs121434318
rs121434318
SPRED1
1.000 0.080 15 38299471 missense variant T/A snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.800 1.000 0 2007 2011
dbSNP: rs1060502505
rs1060502505
SPRED1
1.000 0.080 15 38324807 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs121434314
rs121434314
SPRED1
1.000 0.080 15 38349482 stop gained C/G;T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs121434317
rs121434317
SPRED1
1.000 0.080 15 38351113 stop gained A/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555386649
rs1555386649
SPRED1 ; LOC107984760
1.000 0.080 15 38253186 frameshift variant AT/- del
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555386651
rs1555386651
SPRED1 ; LOC107984760
1.000 0.080 15 38253191 frameshift variant GAGGAGACGGCGAC/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555386654
rs1555386654
SPRED1 ; LOC107984760
1.000 0.080 15 38253209 frameshift variant T/- del
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555389690
rs1555389690
SPRED1
1.000 0.080 15 38299443 stop gained G/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555391061
rs1555391061
SPRED1
1.000 0.080 15 38322373 frameshift variant AG/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555391161
rs1555391161
SPRED1
1.000 0.080 15 38324811 splice donor variant T/C snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555392750
rs1555392750
SPRED1
1.000 0.080 15 38351208 frameshift variant -/TA delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555392759
rs1555392759
SPRED1
1.000 0.080 15 38351250 frameshift variant CT/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555392783
rs1555392783
SPRED1
1.000 0.080 15 38351424 frameshift variant AGTT/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1555392791
rs1555392791
SPRED1
1.000 0.080 15 38351523 frameshift variant -/A delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1566867209
rs1566867209
SPRED1
1.000 0.080 15 38322261 frameshift variant -/A delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1566867246
rs1566867246
SPRED1
1.000 0.080 15 38322332 frameshift variant CTTACGT/- delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1566868022
rs1566868022
SPRED1
1.000 0.080 15 38324766 frameshift variant -/C delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1566868058
rs1566868058
SPRED1
1.000 0.080 15 38324810 splice donor variant G/A snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1566876929
rs1566876929
SPRED1
1.000 0.080 15 38351373 frameshift variant TAG/C delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1566876941
rs1566876941
SPRED1
1.000 0.080 15 38351374 frameshift variant AG/- del
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 0
dbSNP: rs1057518683
rs1057518683
SPRED1
1.000 0.080 15 38351302 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 1.000 1 2007 2007
dbSNP: rs121434316
rs121434316
SPRED1
1.000 0.080 15 38349476 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 1.000 1 2009 2009
dbSNP: rs1555391053
rs1555391053
SPRED1
1.000 0.080 15 38322336 frameshift variant -/A delins
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 1.000 1 2011 2011
dbSNP: rs864622410
rs864622410
SPRED1
1.000 0.080 15 38351125 frameshift variant AT/- del
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 1.000 1 2007 2007
dbSNP: rs1555392609
rs1555392609
SPRED1
1.000 0.080 15 38349515 stop gained C/T snv
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		0.700 1.000 2 2007 2012