ClinVar for MedGen (Select 812742) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2062902	NM_016495.6(TBC1D7):c.322dup (p.Tyr108fs)	TBC1D7, TBC1D7-LOC100130357 (Y108fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly/megalencephaly syndrome, autosomal recessive +1 more	GPathogenic
Select item 1289943	NM_016495.6(TBC1D7):c.665+8G>A	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231415	NM_016495.6(TBC1D7):c.193+47G>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	Macrocephaly/megalencephaly syndrome, autosomal recessive +1 more	GBenign
Select item 1033329	NM_016495.6(TBC1D7):c.381+143C>T	TBC1D7, TBC1D7-LOC100130357 (A148V)	Single nucleotide variant (missense variant +1 more)	Macrocephaly/megalencephaly syndrome, autosomal recessive	GUncertain significance
Select item 617564	NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter)	KMT2E (Q1024*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 144034	NM_016495.6(TBC1D7):c.18_21del (p.Arg7fs)	TBC1D7, TBC1D7-LOC100130357 (R7fs)	Deletion (frameshift variant +1 more)	Macrocephaly/megalencephaly syndrome, autosomal recessive	GPathogenic
Select item 89031	NM_016495.6(TBC1D7):c.538del (p.Tyr180fs)	TBC1D7-LOC100130357, LOC126859592 +1 more (Y134fs +2 more)	Deletion (frameshift variant)	Macrocephaly/megalencephaly syndrome, autosomal recessive	GPathogenic

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