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: rs797044953
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1995 2018
dbSNP: rs797044953
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1995 2018
dbSNP: rs797044953
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1995 2018
dbSNP: rs1135401767
rs1135401767
SETD5
1.000 3 9443354 frameshift variant -/T delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1135401767
rs1135401767
SETD5
1.000 3 9443354 frameshift variant -/T delins
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1421204500
rs1421204500
SETD5
1.000 3 9441704 stop gained C/A;T snv 4.0E-06
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1553618323
rs1553618323
SETD5
1.000 3 9435882 splice donor variant CCAAAGACGAAGAAAATCAAGGTATGCAGGGTAAAAATATCTTAAATAGAAATTGTCTGAAATAGCTTAAATTTTGGAGCA/- delins
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1553625691
rs1553625691
SETD5
1.000 3 9447685 splice acceptor variant G/C snv
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1553625836
rs1553625836
SETD5
1.000 3 9447796 frameshift variant -/A ins
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1553625881
rs1553625881
SETD5
1.000 3 9447834 stop gained C/G snv
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1553635477
rs1553635477
SETD5
1.000 3 9464455 frameshift variant -/T delins
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1553640838
rs1553640838
SETD5
1.000 3 9474583 splice donor variant G/T snv
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1553641476
rs1553641476
SETD5
1.000 3 9475610 frameshift variant -/C delins
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1559451052
rs1559451052
SETD5
1.000 3 9453780 frameshift variant AT/- del
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1559496505
rs1559496505
SETD5
1.000 3 9474582 missense variant G/A snv
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs587777325
rs587777325
SETD5
1.000 3 9445055 stop gained A/G;T snv
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs587777326
rs587777326
SETD5
1.000 3 9448459 frameshift variant CA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587777326
rs587777326
SETD5
1.000 3 9448459 frameshift variant CA/- delins
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs587777327
rs587777327
SETD5
1.000 3 9470735 stop gained C/G;T snv
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs587777328
rs587777328
SETD5
1.000 3 9475532 frameshift variant -/G delins
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs864321657
rs864321657
SETD5
1.000 3 9448586 stop gained C/T snv
CUI: C3810406
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 		0.700 0