"Genetic Services Laboratory, University of Chicago"[submitter] AND "T - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160178	NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=)	TUBB2B	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 160177	NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu)	TUBB2B (R380L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 1214258	NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys)	TUBB2B (R380C)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7 +1 more	GPathogenic
Select item 160187	NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe)	TUBB2B (S322F)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 437125	NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)	TUBB2B (Q291K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 160186	NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser)	TUBB2B (P287S)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 160185	NM_178012.5(TUBB2B):c.718C>T (p.Leu240=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1337281	NM_178012.5(TUBB2B):c.673C>T (p.Leu225Phe)	TUBB2B (L225F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 137855	NM_178012.5(TUBB2B):c.609C>T (p.Asp203=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 160183	NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)	TUBB2B (C201S)	Single nucleotide variant (missense variant)	TUBB2B-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 137854	NM_178012.5(TUBB2B):c.564G>T (p.Ser188=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 378836	NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met)	TUBB2B (T178M)	Single nucleotide variant (missense variant)	TUBB2B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 437126	NM_178012.5(TUBB2B):c.523G>A (p.Val175Met)	TUBB2B (V175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437128	NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu)	TUBB2B (S172L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 160181	NM_178012.5(TUBB2B):c.498C>T (p.Thr166=)	TUBB2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437127	NM_178012.5(TUBB2B):c.424G>A (p.Gly142Ser)	TUBB2B (G142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 160180	NM_178012.5(TUBB2B):c.330C>T (p.Ala110=)	TUBB2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 212497	NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)	TUBB2B (G98R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160179	NM_178012.5(TUBB2B):c.126G>T (p.Leu42Phe)	TUBB2B (L42F)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 160176	NM_178012.5(TUBB2B):c.111T>C (p.His37=)	TUBB2B	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 7	GUncertain significance
Select item 1336721	NM_178012.5(TUBB2B):c.5G>A (p.Arg2His)	TUBB2B (R2H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 21