"Ambry Genetics"[submitter] AND "KLHL5"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115774	NM_015990.5(KLHL5):c.77C>T (p.Ser26Leu)	KLHL5 (S26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601927	NM_015990.5(KLHL5):c.187T>G (p.Leu63Val)	KLHL5 (L63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294514	NM_015990.5(KLHL5):c.260C>A (p.Thr87Asn)	KLHL5 (T87N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115776	NM_015990.5(KLHL5):c.375T>A (p.Ser125Arg)	KLHL5 (S125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244029	NM_015990.5(KLHL5):c.515A>G (p.Gln172Arg)	KLHL5 (Q172R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522011	NM_015990.5(KLHL5):c.687C>G (p.Ile229Met)	KLHL5 (I168M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557772	NM_015990.5(KLHL5):c.706C>T (p.Arg236Cys)	KLHL5 (R175C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203842	NM_015990.5(KLHL5):c.716T>C (p.Leu239Ser)	KLHL5 (L98S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542784	NM_015990.5(KLHL5):c.752C>T (p.Ala251Val)	KLHL5 (A110V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261674	NM_015990.5(KLHL5):c.878A>C (p.Lys293Thr)	KLHL5 (K232T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115769	NM_015990.5(KLHL5):c.1162T>C (p.Cys388Arg)	KLHL5 (C247R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203967	NM_015990.5(KLHL5):c.1177A>G (p.Met393Val)	KLHL5 (M252V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115770	NM_015990.5(KLHL5):c.1255A>G (p.Thr419Ala)	KLHL5 (T358A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507511	NM_015990.5(KLHL5):c.1331G>A (p.Arg444His)	KLHL5 (R383H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386627	NM_015990.5(KLHL5):c.1558G>A (p.Val520Ile)	KLHL5 (V459I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493219	NM_015990.5(KLHL5):c.1619G>A (p.Arg540His)	KLHL5 (R540H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115771	NM_015990.5(KLHL5):c.1689A>G (p.Lys563=)	KLHL5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3115772	NM_015990.5(KLHL5):c.1799G>A (p.Gly600Asp)	KLHL5 (G539D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331464	NM_015990.5(KLHL5):c.1841T>C (p.Ile614Thr)	KLHL5 (I553T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249224	NM_015990.5(KLHL5):c.1844G>C (p.Gly615Ala)	KLHL5 (G474A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322683	NM_015990.5(KLHL5):c.1856C>T (p.Ala619Val)	KLHL5 (A558V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115773	NM_015990.5(KLHL5):c.1868A>T (p.Asn623Ile)	KLHL5 (N562I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507443	NM_015990.5(KLHL5):c.1921A>T (p.Met641Leu)	KLHL5 (M580L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478784	NM_015990.5(KLHL5):c.1933G>A (p.Val645Ile)	KLHL5 (V504I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459235	NM_015990.5(KLHL5):c.1939T>C (p.Ser647Pro)	KLHL5 (S506P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309139	NM_015990.5(KLHL5):c.1969G>T (p.Val657Phe)	KLHL5 (V596F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341142	NM_015990.5(KLHL5):c.2041G>T (p.Ala681Ser)	KLHL5 (A681S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609551	NM_015990.5(KLHL5):c.2098G>A (p.Ala700Thr)	KLHL5 (A639T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115775	NM_015990.5(KLHL5):c.2124A>C (p.Lys708Asn)	KLHL5 (K567N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29