Total 6 pathogenic variants reported for Subcortical band heterotopia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro)	SNV Unknown	Chr17:2670268	Pathogenic	Subcortical band heterotopia	No Assertion Criteria Provided	CA119277	rs_121434484	1 SubmittersRCV000008543
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro)	SNV Germline	Chr17:2674110	Likely pathogenic	Subcortical band heterotopia Condition: not provided	Criteria Provided Single Submitter	CA119278	rs_121434488	2 SubmittersRCV000008547 RCV001851740
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)	SNV Germline/somatic	Chr17:2638310	Pathogenic/Likely pathogenic	Lissencephaly due to LIS1 mutation Subcortical band heterotopia Intellectual disability Lissencephaly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119279	rs_121434489	5 SubmittersRCV000008549 RCV000008548 RCV001255338 RCV001291182 RCV001851741
NM_000430.4(PAFAH1B1):c.569G>T (p.Gly190Val)	SNV Unknown	Chr17:2672655	Likely pathogenic	PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia	Criteria Provided Single Submitter			1 SubmittersRCV003315117