Total 9 pathogenic variants reported for Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001079537.2(TRAPPC6B):c.150-2A>G	SNV Germline	Chr14:39158404	Pathogenic	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	No Assertion Criteria Provided	CA389553569	rs_1347223331	1 SubmittersRCV000578212
NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter)	SNV Germline	Chr14:39159508	Pathogenic	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	Criteria Provided Single Submitter	CA7162858	rs_377626365	2 SubmittersRCV000578216
NM_001079537.2(TRAPPC6B):c.149+2T>A	SNV Germline	Chr14:39159481	Likely pathogenic	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	Criteria Provided Single Submitter	CA7162853	rs_758863393	1 SubmittersRCV001251183
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter)	SNV Germline	Chr14:39159541	Pathogenic/Likely pathogenic	TRAPPC6B-related neurodevelopmental disorder Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Inborn genetic diseases TRAPPC6B-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA389554365	rs_1171802070	7 SubmittersRCV001270823 RCV002471078 RCV002541656 RCV004731116 RCV005094295
NM_001079537.2(TRAPPC6B):c.82-2A>G	SNV Germline	Chr14:39159552	Pathogenic	Condition: not provided Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA7162867	rs_761878844	4 SubmittersRCV002255760 RCV005356071 RCV005930098