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: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398467 missense variant C/A;T snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
0.882 0.160 X 101398467 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs104894829
rs104894829
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1.000 0.160 X 101407773 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs104894830
rs104894830
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101398483 missense variant T/C snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0
dbSNP: rs104894839
rs104894839
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398508 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs104894842
rs104894842
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398079 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs104894846
rs104894846
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101398481 missense variant C/T snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0
dbSNP: rs104894847
rs104894847
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.925 0.160 X 101407846 missense variant C/G snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0
dbSNP: rs104894849
rs104894849
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398004 stop gained A/G;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1057516429
rs1057516429
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101403936 stop gained T/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1057519609
rs1057519609
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101397950 inframe deletion AAG/- delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1060500747
rs1060500747
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398851 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1555985002
rs1555985002
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398520 frameshift variant -/T delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1555985091
rs1555985091
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398799 frameshift variant -/C delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1555985814
rs1555985814
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101401703 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1555985827
rs1555985827
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101401723 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1555986305
rs1555986305
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101403915 missense variant G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1555987175
rs1555987175
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1.000 0.160 X 101407831 frameshift variant -/ACGAGGGCCAGGAA delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1569302697
rs1569302697
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398023 inframe deletion TCCTGCCGGTTTATC/- delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs1569303030
rs1569303030
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398506 frameshift variant G/- del
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101399747 3 prime UTR variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs28935485
rs28935485
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101398534 missense variant G/C snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0
dbSNP: rs387906483
rs387906483
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101403809 splice donor variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 0
dbSNP: rs397515870
rs397515870
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101400692 missense variant G/C;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0