"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138051	NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)	KCNQ3 (P769H +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +5 more	GBenign/Likely benign
Select item 205988	NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)	KCNQ3 (D755N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 138047	NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)	KCNQ3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 21411	NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)	KCNQ3 (P574S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 21417	NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	KCNQ3 (R330C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +2 more	GPathogenic/Likely pathogenic
Select item 378034	NM_004519.4(KCNQ3):c.834T>C (p.Leu278=)	KCNQ3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 129350	NM_004519.4(KCNQ3):c.732T>C (p.Gly244=)	KCNQ3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 129349	NM_004519.4(KCNQ3):c.660T>C (p.Asn220=)	KCNQ3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign