"PreventionGenetics, part of Exact Sciences"[submitter] AND "KNG1"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052145	NM_001102416.3(KNG1):c.159G>A (p.Gln53=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GLikely benign
Select item 2431559	NM_001102416.3(KNG1):c.166T>G (p.Leu56Val)	KNG1 (L56V)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 6 +1 more	GConflicting classifications of pathogenicity
Select item 3059701	NM_001102416.3(KNG1):c.246T>C (p.Asp82=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GBenign
Select item 3059276	NM_001102416.3(KNG1):c.324G>A (p.Thr108=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GBenign
Select item 3038288	NM_001102416.3(KNG1):c.591T>G (p.Ile197Met)	KNG1 (I197M)	Single nucleotide variant (missense variant +1 more)	KNG1-related disorder	GBenign
Select item 3041593	NM_001102416.3(KNG1):c.1053C>T (p.Cys351=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GLikely benign
Select item 3030394	NM_001102416.3(KNG1):c.1106A>G (p.Asn369Ser)	KNG1 (N333S +1 more)	Single nucleotide variant (missense variant)	KNG1-related disorder	GUncertain significance
Select item 3058543	NM_001102416.3(KNG1):c.1254T>C (p.Asp418=)	KNG1	Single nucleotide variant (synonymous variant +1 more)	KNG1-related disorder	GLikely benign
Select item 3057213	NM_001102416.3(KNG1):c.1461G>A (p.Gly487=)	KNG1	Single nucleotide variant (synonymous variant +1 more)	KNG1-related disorder	GLikely benign
Select item 3056243	NM_001102416.3(KNG1):c.1590C>T (p.Asp530=)	KNG1	Single nucleotide variant (synonymous variant +1 more)	KNG1-related disorder	GLikely benign