n-Heptyl iodide - ClinVar - NCBI

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Items: 9

The following term was not found in ClinVar: Heptyl.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4053	NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)	TPO (Q660E +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 188878	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	SLC26A4 (R185T)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 43492	NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	SLC26A4 (F354S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 4820	NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	SLC26A4 (E384G)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 53993	NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	CFTR (Q179K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 54055	NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	CFTR (R258G)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more	GConflicting classifications of pathogenicity
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +12 more	GPathogenic