Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558005340
rs1558005340
ATP1A2
G 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
A 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR

dbSNP: rs1166021430
rs1166021430
PIEZO1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1567659736
rs1567659736
PIEZO1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
T 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507545
rs397507545
PTPN11
0.010 GeneticVariation BEFREE These mutations have been reported previously, and when they were germinal variants, patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been also observed in a patient with severe NS and hydrops fetalis, as our cases. 29703613

2019
dbSNP: rs786205745
rs786205745
CACNA1C
0.010 GeneticVariation BEFREE Here, we report retrospectively an unusual fetal presentation on a second patient with TS1 with fetal hydrops due to a congenital AV block and its postnatal diagnosis by a marked prolongation of the corrected QTc interval of 570 ms and a missense mutation, p.Gly406Arg, in exon 8A of CACNA1C gene. 25882468

2016
dbSNP: rs79891110
rs79891110
CACNA1C
0.010 GeneticVariation BEFREE Here, we report retrospectively an unusual fetal presentation on a second patient with TS1 with fetal hydrops due to a congenital AV block and its postnatal diagnosis by a marked prolongation of the corrected QTc interval of 570 ms and a missense mutation, p.Gly406Arg, in exon 8A of CACNA1C gene. 25882468

2016
dbSNP: rs267607048
rs267607048
SHOC2
0.010 GeneticVariation BEFREE Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 24458587

2014
dbSNP: rs369428934
rs369428934
AHCY
0.010 GeneticVariation BEFREE This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly. 20852937

2010
dbSNP: rs773162208
rs773162208
AHCY
0.010 GeneticVariation BEFREE This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly. 20852937

2010