ClinVar for MedGen (Select 1784299) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075732	NM_144572.2:c.[2594del];[159C>G]			Neurodevelopmental disorder with seizures and gingival overgrowth	GLikely pathogenic
Select item 3068025	NM_144572.2(TBC1D2B):c.197A>G (p.Tyr66Cys)	TBC1D2B (Y66C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures and gingival overgrowth	GUncertain significance
Select item 3064911	NM_144572.2(TBC1D2B):c.220C>T (p.Gln74Ter)	TBC1D2B (Q74*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GUncertain significance
Select item 2663793	NM_144572.2(TBC1D2B):c.274C>T (p.Gln92Ter)	LOC130057678, TBC1D2B (Q92*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GLikely pathogenic
Select item 2436964	NM_144572.2(TBC1D2B):c.2752C>T (p.Arg918Trp)	TBC1D2B (R768W +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with seizures and gingival overgrowth	GUncertain significance
Select item 1683745	NM_144572.2(TBC1D2B):c.425delinsTT (p.Cys142fs)	TBC1D2B (C142fs +1 more)	Indel (frameshift variant)	Neurodevelopmental disorder with seizures and gingival overgrowth	GLikely pathogenic
Select item 1098848	NM_144572.2(TBC1D2B):c.2295C>G (p.Tyr765Ter)	TBC1D2B (Y765* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 1098847	NM_144572.2(TBC1D2B):c.658_659del (p.Leu220fs)	TBC1D2B (L108fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 1098846	NM_144572.2(TBC1D2B):c.1480C>T (p.Gln494Ter)	TBC1D2B (Q494* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 1098845	NM_144572.2(TBC1D2B):c.426dup (p.Asn143Ter)	TBC1D2B (N143* +1 more)	Duplication (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 1098844	NM_144572.2(TBC1D2B):c.2378T>A (p.Leu793Ter)	TBC1D2B (L793* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic