Related gene-specific medical variations for Gene (Select 347733) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361508	NM_178012.5(TUBB2B):c.976G>C (p.Val326Leu)	TUBB2B (V326L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238844	NM_178012.5(TUBB2B):c.257G>T (p.Arg86Ile)	TUBB2B (R86I)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 3235893	NM_178012.5(TUBB2B):c.845G>C (p.Arg282Pro)	TUBB2B (R282P)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 3062041	NM_178012.5(TUBB2B):c.416T>C (p.Leu139Pro)	TUBB2B (L139P)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 2664029	NM_178012.5(TUBB2B):c.22C>T (p.Gln8Ter)	TUBB2B (Q8*)	Single nucleotide variant (nonsense)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 2438435	NM_178012.5(TUBB2B):c.607G>C (p.Asp203His)	TUBB2B (D203H)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 1676461	NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg)	TUBB2B (P173R)	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1342599	NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser)	TUBB2B (F408S)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 814775	GRCh37/hg19 6p25.2(chr6:3175377-3233433)x1	TUBB2B	Copy number loss	not provided	GUncertain significance
Select item 624122	NM_178012.5(TUBB2B):c.629T>A (p.Ile210Asn)	TUBB2B (I210N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic