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: rs121913624
rs121913624
MYH7
0.851 0.080 14 23429278 missense variant C/A;G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 53 1961 2017
dbSNP: rs1057520918
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs1057520918
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091
CACNA1A
1.000 19 13298847 frameshift variant -/A ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 46 1988 2017
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
1.000 0.160 X 153725514 frameshift variant -/C delins
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 45 1981 2014
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 1.000 42 1999 2017
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.740 1.000 40 1999 2014
dbSNP: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.720 1.000 39 1993 2017
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
9 128203597 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 38 1983 2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
1.000 9 128203604 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 38 1983 2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
1.000 9 128203604 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 38 1983 2017
dbSNP: rs1554773487
rs1554773487
DNM1
1.000 9 128220205 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 38 1983 2017
dbSNP: rs1554774587
rs1554774587
DNM1
1.000 9 128222543 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 38 1983 2017
dbSNP: rs781139634
rs781139634
DNMT3A
2 25235768 stop gained G/A snv 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 36 1989 2018
dbSNP: rs781139634
rs781139634
DNMT3A
2 25235768 stop gained G/A snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 36 1989 2018
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.810 1.000 35 1990 2017
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 35 1997 2014
dbSNP: rs1064794276
rs1064794276
NF1
0.925 0.120 17 31235639 frameshift variant TTTG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs137854562
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 34 1967 2017
dbSNP: rs137854562
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 34 1967 2017
dbSNP: rs137854562
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017