"Illumina Laboratory Services, Illumina"[submitter] AND "CHD3"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429398	NM_001005273.3(CHD3):c.100+1G>A	CHD3	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2429403	NM_001005273.3(CHD3):c.5113C>T (p.Pro1705Ser)	CHD3 (P1671S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693287	NM_001005273.3(CHD3):c.5335G>C (p.Glu1779Gln)	CHD3 (E1745Q +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1199206	NM_001005273.3(CHD3):c.5812G>A (p.Ala1938Thr)	CHD3 (A1904T +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance

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