ClinVar for MedGen (Select 812742) - ClinVar - NCBI

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Items: 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12899431.	NM_016495.6(TBC1D7):c.665+8G>A GRCh37: Chr6:13307824 GRCh38: Chr6:13307592	LOC126859592, TBC1D7, TBC1D7-LOC100130357		not provided, Macrocephaly/megalencephaly syndrome, autosomal recessive	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12314152.	NM_016495.6(TBC1D7):c.193+47G>A GRCh37: Chr6:13325279 GRCh38: Chr6:13325047	TBC1D7, TBC1D7-LOC100130357		not provided, Macrocephaly/megalencephaly syndrome, autosomal recessive	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10333293.	NM_016495.6(TBC1D7):c.381+143C>T GRCh37: Chr6:13320997 GRCh38: Chr6:13320765	TBC1D7, TBC1D7-LOC100130357	A148V	Macrocephaly/megalencephaly syndrome, autosomal recessive	Uncertain significance (Jul 11, 2018)	criteria provided, single submitter
Select item 6175644.	NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter) GRCh37: Chr7:104747974 GRCh38: Chr7:105107527	KMT2E	Q1024*	See cases	Likely pathogenic (Feb 7, 2019)	criteria provided, single submitter
Select item 1440345.	NM_016495.6(TBC1D7):c.18_21del (p.Arg7fs) GRCh37: Chr6:13327110-13327113 GRCh38: Chr6:13326878-13326881	TBC1D7, TBC1D7-LOC100130357	R7fs	Macrocephaly/megalencephaly syndrome, autosomal recessive	Pathogenic (Apr 1, 2014)	no assertion criteria provided
Select item 890316.	NM_016495.6(TBC1D7):c.538del (p.Tyr180fs) GRCh37: Chr6:13307959 GRCh38: Chr6:13307727	TBC1D7-LOC100130357, LOC126859592, TBC1D7	Y134fs, Y180fs, Y153fs	Macrocephaly/megalencephaly syndrome, autosomal recessive	Pathogenic (Nov 1, 2013)	no assertion criteria provided