Total 10 pathogenic variants reported for Developmental and epileptic encephalopathy, 81

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001378457.1(DMXL2):c.4478C>A (p.Ser1493Ter)	SNV Germline	Chr15:51498746	Pathogenic	Developmental and epileptic encephalopathy, 81	No Assertion Criteria Provided	CA392431753	rs_1596016716	1 SubmittersRCV000856588
NM_001378457.1(DMXL2):c.4478C>G (p.Ser1493Ter)	SNV Germline	Chr15:51498746	Pathogenic	Developmental and epileptic encephalopathy, 81	No Assertion Criteria Provided	CA392431755	rs_1596016716	1 SubmittersRCV000856589
NM_001378457.1(DMXL2):c.5135C>T (p.Ala1712Val)	SNV Germline	Chr15:51488036	Pathogenic	Developmental and epileptic encephalopathy, 81	No Assertion Criteria Provided	CA270565600	rs_372749193	1 SubmittersRCV000856590
NM_001378457.1(DMXL2):c.7521-1G>A	SNV Germline	Chr15:51465652	Pathogenic	Developmental and epileptic encephalopathy, 81	Criteria Provided Single Submitter	CA392439645	rs_1595908479	2 SubmittersRCV000856591
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp)	SNV Germline	Chr15:51500116	Conflicting classifications of pathogenicity	Condition: not provided Polyendocrine-polyneuropathy syndrome Hearing loss, autosomal dominant 71 Developmental and epileptic encephalopathy, 81 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7562207	rs_376728796	3 SubmittersRCV001893435 RCV002506986 RCV004041648
NM_001378457.1(DMXL2):c.6035A>C (p.Gln2012Pro)	SNV Germline	Chr15:51481071	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided DMXL2-related disorder Developmental and epileptic encephalopathy, 81 Polyendocrine-polyneuropathy syndrome Hearing loss, autosomal dominant 71	Criteria Provided Conflicting Classifications	CA7561698	rs_138394487	5 SubmittersRCV002923695 RCV002958110 RCV004750227 RCV005002909
NM_001378457.1(DMXL2):c.4784-1G>A	SNV Germline	Chr15:51491748	Likely pathogenic	Developmental and epileptic encephalopathy, 81	Criteria Provided Single Submitter		rs_2548486231	1 SubmittersRCV004556965
NM_001378457.1(DMXL2):c.3295G>T (p.Glu1099Ter)	SNV Germline	Chr15:51499929	Pathogenic	Developmental and epileptic encephalopathy, 81	Criteria Provided Single Submitter			1 SubmittersRCV005252530