"Centre de Biologie Pathologie Génétique, Centre Hospitalier Universit - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975197	NM_017780.4(CHD7):c.560A>C (p.Gln187Pro)	CHD7 (Q187P)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975201	NM_017780.4(CHD7):c.891G>C (p.Gln297His)	CHD7 (Q297H)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975198	NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu)	CHD7 (P940L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 699851	NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys)	CHD7 (E1897K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1700206	NM_017780.4(CHD7):c.5744G>A (p.Arg1915Gln)	CHD7 (R1915Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 975196	NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val)	CHD7 (A1953V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 975199	NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr)	CHD7 (A2785T +1 more)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 975202	NM_017780.4(CHD7):c.8425G>A (p.Val2809Met)	CHD7 (V2809M +1 more)	Single nucleotide variant (missense variant)	CHD7-related disorder	GUncertain significance
Select item 975200	NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly)	CHD7 (S2934G +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance