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: rs1555027828
rs1555027828
KMT5B
1.000 11 68171022 missense variant A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2004 2017
dbSNP: rs1555028206
rs1555028206
KMT5B
1.000 11 68171705 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2004 2017
dbSNP: rs1555028206
rs1555028206
KMT5B
1.000 11 68171705 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2017
dbSNP: rs114727354
rs114727354
KMT5B
1.000 11 68173898 stop gained G/A;T snv 4.4E-03 1.4E-02
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		0.700 1.000 1 2018 2018
dbSNP: rs1555023232
rs1555023232
KMT5B
1.000 11 68158788 frameshift variant CT/- delins
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		0.700 0
dbSNP: rs1555028154
rs1555028154
KMT5B
1.000 11 68171638 frameshift variant A/- del
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		0.700 0
dbSNP: rs1555034768
rs1555034768
KMT5B
1.000 11 68185834 frameshift variant G/- delins
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		0.700 0
dbSNP: rs1565240833
rs1565240833
KMT5B
1.000 11 68185870 frameshift variant G/- delins
CUI: C4540474
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0