"Baylor Genetics"[submitter] AND "TUBB4A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442015	NM_006087.4(TUBB4A):c.1289C>A (p.Ala430Asp)	TUBB4A (A358D +3 more)	Single nucleotide variant (missense variant)	Torsion dystonia 4	GUncertain significance
Select item 689794	NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser)	TUBB4A (F445S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GLikely pathogenic
Select item 209201	NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)	TUBB4A (M388I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GPathogenic/Likely pathogenic
Select item 1033070	NM_006087.4(TUBB4A):c.854C>A (p.Thr285Lys)	TUBB4A (T285K +3 more)	Single nucleotide variant (missense variant)	Torsion dystonia 4	GLikely pathogenic
Select item 50985	NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)	TUBB4A (D249N +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +3 more	GPathogenic/Likely pathogenic
Select item 267774	NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)	TUBB4A (T229M +3 more)	Single nucleotide variant (missense variant)	Torsion dystonia 4 +1 more	GPathogenic
Select item 2442020	NM_006087.4(TUBB4A):c.211G>A (p.Gly71Ser)	TUBB4A (G116S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely pathogenic

ClinVar