Total 5 pathogenic variants reported for Overhydrated hereditary stomatocytosis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu)	SNV Germline	Chr6:49612506	Likely pathogenic	Rh-null, regulator type Overhydrated hereditary stomatocytosis	Criteria Provided Single Submitter	CA122828	rs_121918587	2 SubmittersRCV000013935 RCV004595881
NM_000324.3(RHAG):c.157+1G>A	SNV Germline	Chr6:49636655	Pathogenic/Likely pathogenic	Rh-null, regulator type RHAG-related disorder Overhydrated hereditary stomatocytosis Rh-null, regulator type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3847998	rs_375508949	5 SubmittersRCV000013936 RCV003415695 RCV005042038 RCV005632178
NM_000324.3(RHAG):c.194T>C (p.Phe65Ser)	SNV Germline	Chr6:49619326	Pathogenic	Overhydrated hereditary stomatocytosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA213352	rs_863225468	4 SubmittersRCV000202428 RCV001781607
NM_000324.3(RHAG):c.182T>G (p.Ile61Arg)	SNV Germline	Chr6:49619338	Pathogenic	Overhydrated hereditary stomatocytosis	No Assertion Criteria Provided	CA213350	rs_863225469	1 SubmittersRCV000202426
NM_000324.3(RHAG):c.447T>G (p.Ile149Met)	SNV Germline	Chr6:49618113	Pathogenic	Overhydrated hereditary stomatocytosis	No Assertion Criteria Provided	CA364401417	rs_1554174425	1 SubmittersRCV000505544