"University of Washington Center for Mendelian Genomics, University of - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982183	NM_001273.5(CHD4):c.5638C>T (p.Pro1880Ser)	CHD4 (P1870S +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982182	NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys)	CHD4 (Y1747C +2 more)	Single nucleotide variant (missense variant)	CHD4-related condition	GUncertain significance
Select item 982181	NM_001273.5(CHD4):c.5221A>G (p.Ile1741Val)	CHD4 (I1730V +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982146	NM_001273.5(CHD4):c.3533C>T (p.Ala1178Val)	CHD4 (A1165V +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982180	NM_001273.5(CHD4):c.1686+1G>T	CHD4	Single nucleotide variant (splice donor variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982179	NM_001273.5(CHD4):c.1481C>T (p.Thr494Met)	CHD4 (T481M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982178	NM_001273.5(CHD4):c.22C>T (p.Pro8Ser)	CHD4 (P8S)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic

ClinVar