ClinVar for MedGen (Select 867438) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9970741.	GRCh37/hg19 16p13.11(chr16:15048751-16292235) GRCh37: Chr16:15048751-16292235	ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, NTAN1, PDXDC1, RRN3		Abnormality of the head	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 9970582.	GRCh37/hg19 2q24.3(chr2:165903672-166666206) GRCh37: Chr2:165903672-166666206	CSRNP3, GALNT3, SCN2A, SCN3A		Corpus callosum, agenesis of, Abnormality of the head, Transverse facial cleft, Abnormal optic chiasm morphology	Pathogenic (Oct 1, 2020)	criteria provided, single submitter

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