Total 9 pathogenic variants reported for Microcephaly 16, primary, autosomal recessive

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter)	SNV Germline	Chr12:132729818	Conflicting classifications of pathogenicity	Microcephaly 16, primary, autosomal recessive Microcephaly Condition: not provided	Criteria Provided Conflicting Classifications	CA215060	rs_201785518	4 SubmittersRCV000202417 RCV000203262 RCV001092702
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val)	SNV Germline	Chr12:132734559	Likely pathogenic	Microcephaly 16, primary, autosomal recessive Microcephaly	Criteria Provided Single Submitter	CA215062	rs_863225465	2 SubmittersRCV000202421 RCV000203271
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp)	SNV Germline	Chr12:132754714	Likely pathogenic	Microcephaly 16, primary, autosomal recessive	Criteria Provided Single Submitter	CA387361750	rs_1185537869	2 SubmittersRCV000786054
NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr)	SNV Germline	Chr12:132761780	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly 16, primary, autosomal recessive Inborn genetic diseases ANKLE2-related disorder	Criteria Provided Conflicting Classifications	CA246319601	rs_865818494	5 SubmittersRCV000995022 RCV001332019 RCV002549893 RCV003898010
NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter)	SNV Germline	Chr12:132734406	Pathogenic	Microcephaly 16, primary, autosomal recessive Vanishing white matter disease Intellectual disability Hypotonia	Criteria Provided Multiple Submitters No Conflicts	CA387352395	rs_1380982250	2 SubmittersRCV003992460 RCV001268940
NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)	SNV Germline	Chr12:132750784	Pathogenic	Microcephaly 16, primary, autosomal recessive	No Assertion Criteria Provided	CA6895890	rs_753596204	1 SubmittersRCV003152518
NM_015114.3(ANKLE2):c.2495C>G (p.Ser832Ter)	SNV Germline	Chr12:132728152	Likely pathogenic	Microcephaly 16, primary, autosomal recessive	Criteria Provided Single Submitter		rs_753680111	1 SubmittersRCV004594876