"Clinical Genetics Laboratory, University Hospital Schleswig-Holstein" - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065988	NM_001005273.3(CHD3):c.1658A>T (p.Lys553Met)	CHD3 (K553M +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2661914	NM_001005273.3(CHD3):c.2333T>A (p.Leu778His)	CHD3 (L778H +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1319937	NM_001005273.3(CHD3):c.3373C>G (p.Pro1125Ala)	CHD3 (P1125A +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1710244	NM_001005273.3(CHD3):c.3562G>A (p.Ala1188Thr)	CHD3 (A1188T +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 1710168	NM_001005273.3(CHD3):c.4528G>A (p.Gly1510Arg)	CHD3 (G1510R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance

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