"Ambry Genetics"[submitter] AND "KIN"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2270580	NM_012311.4(KIN):c.1063G>A (p.Gly355Ser)	KIN (G355S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542431	NM_012311.4(KIN):c.1000A>T (p.Thr334Ser)	KIN (T334S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288698	NM_012311.4(KIN):c.949A>G (p.Lys317Glu)	KIN (K317E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115077	NM_012311.4(KIN):c.868A>G (p.Ile290Val)	KIN (I290V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542432	NM_012311.4(KIN):c.834C>A (p.Asp278Glu)	KIN (D278E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282231	NM_012311.4(KIN):c.830C>T (p.Thr277Ile)	KIN (T277I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377401	NM_012311.4(KIN):c.827G>A (p.Arg276Gln)	KIN (R276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321576	NM_012311.4(KIN):c.811A>G (p.Lys271Glu)	KIN (K271E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115076	NM_012311.4(KIN):c.719A>G (p.Lys240Arg)	KIN (K240R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115075	NM_012311.4(KIN):c.680C>A (p.Pro227Gln)	KIN (P227Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490196	NM_012311.4(KIN):c.659C>G (p.Ser220Cys)	KIN (S220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343332	NM_012311.4(KIN):c.631G>T (p.Ala211Ser)	KIN (A211S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371477	NM_012311.4(KIN):c.611C>T (p.Thr204Met)	KIN (T204M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355885	NM_012311.4(KIN):c.551A>G (p.Lys184Arg)	KIN (K184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288697	NM_012311.4(KIN):c.505A>G (p.Thr169Ala)	KIN (T169A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264615	NM_012311.4(KIN):c.485A>G (p.Asp162Gly)	KIN (D162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115074	NM_012311.4(KIN):c.481C>G (p.Gln161Glu)	KIN (Q161E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458723	NM_012311.4(KIN):c.463C>G (p.Leu155Val)	KIN (L155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311606	NM_012311.4(KIN):c.451C>T (p.Arg151Trp)	KIN (R151W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534834	NM_012311.4(KIN):c.332A>C (p.Gln111Pro)	KIN (Q111P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619352	NM_012311.4(KIN):c.200A>G (p.Tyr67Cys)	KIN (Y67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471862	NM_012311.4(KIN):c.34A>G (p.Ile12Val)	KIN (I12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22