"Practice for Gait Abnormalities, David Pomarino, Competency Network T - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158387	NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)	CREBBP (S1934P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1526262	NM_004380.3(CREBBP):c.5348G>T (p.Cys1783Phe)	CREBBP (C1745F +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1254617	NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)	CREBBP (V1575M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 30042	NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	CREBBP (T910A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1327228	NM_004380.3(CREBBP):c.712G>A (p.Val238Met)	CREBBP (V238M)	Single nucleotide variant (missense variant)	CREBBP-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1048115	NM_004380.3(CREBBP):c.69G>A (p.Ser23=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	Tip-toe gait +3 more	GConflicting classifications of pathogenicity

ClinVar