"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95773	NM_017780.4(CHD7):c.1018A>G (p.Met340Val)	CHD7 (M340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 195325	NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)	CHD7 (N349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 95776	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	CHD7, LOC126860403	Duplication	not specified +4 more	GBenign/Likely benign
Select item 166861	NM_017780.4(CHD7):c.2377-3dup	CHD7	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 198223	NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)	CHD7 (K812N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 158287	NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs)	CHD7 (R969fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 158297	NM_017780.4(CHD7):c.4534-13T>G	CHD7	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 445462	NM_017780.4(CHD7):c.7830+15G>A	CHD7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95816	NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)	CHD7 (L2984F +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign