"3billion"[submitter] AND "CHD3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333400	NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr)	CHD3 (H886Y +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GConflicting classifications of pathogenicity
Select item 549733	NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln)	CHD3 (R985Q +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GPathogenic
Select item 2444092	NM_001005273.3(CHD3):c.3119T>C (p.Met1040Thr)	CHD3 (M1040T +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 549741	NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)	CHD3 (R1169W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1320099	NM_001005273.3(CHD3):c.3878T>C (p.Val1293Ala)	CHD3 (V1293A +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 1333403	NM_001005273.3(CHD3):c.5306T>C (p.Phe1769Ser)	CHD3 (F1735S +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2605652	NM_001005273.3(CHD3):c.5941G>A (p.Val1981Met)	CHD3 (V1947M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

ClinVar