Related gene-specific medical variations for Gene (Select 23102) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174589	NM_144572.2(TBC1D2B):c.10G>C (p.Ala4Pro)	LOC130057679, TBC1D2B (A4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3041747	NM_144572.2(TBC1D2B):c.23C>G (p.Ala8Gly)	LOC130057679, TBC1D2B (A8G)	Single nucleotide variant (missense variant)	TBC1D2B-related disorder	GBenign
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 2605071	NM_144572.2(TBC1D2B):c.311C>T (p.Pro104Leu)	LOC130057678, TBC1D2B (P104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544579	NM_144572.2(TBC1D2B):c.343G>A (p.Ala115Thr)	LOC130057678, TBC1D2B (A115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2388192	NM_144572.2(TBC1D2B):c.299C>T (p.Pro100Leu)	LOC130057678, TBC1D2B (P100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352098	NM_144572.2(TBC1D2B):c.32GCG[7] (p.Gly15_Glu16insGlyGly)	LOC130057679, TBC1D2B	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 2334956	NM_144572.2(TBC1D2B):c.22G>T (p.Ala8Ser)	LOC130057679, TBC1D2B (A8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323452	NM_144572.2(TBC1D2B):c.278G>T (p.Gly93Val)	LOC130057678, TBC1D2B (G93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263758	NM_144572.2(TBC1D2B):c.281C>T (p.Pro94Leu)	LOC130057678, TBC1D2B (P94L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257792	NM_144572.2(TBC1D2B):c.305C>G (p.Thr102Arg)	LOC130057678, TBC1D2B (T102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768719	NM_144572.2(TBC1D2B):c.36C>G (p.Gly12=)	LOC130057679, TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign