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

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2568463	NM_004795.4(KL):c.7G>A (p.Ala3Thr)	KL (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115192	NM_004795.4(KL):c.20C>T (p.Pro7Leu)	KL (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318479	NM_004795.4(KL):c.80G>A (p.Gly27Asp)	KL (G27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404138	NM_004795.4(KL):c.124T>C (p.Trp42Arg)	KL (W42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327363	NM_004795.4(KL):c.137C>T (p.Ser46Leu)	KL (S46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329628	NM_004795.4(KL):c.143C>G (p.Pro48Arg)	KL (P48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229037	NM_004795.4(KL):c.155A>C (p.Glu52Ala)	KL (E52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288772	NM_004795.4(KL):c.238T>G (p.Trp80Gly)	KL (W80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332441	NM_004795.4(KL):c.265A>C (p.Ile89Leu)	KL (I89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268311	NM_004795.4(KL):c.290C>A (p.Pro97His)	KL (P97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 883757	NM_004795.4(KL):c.535C>T (p.Arg179Trp)	KL (R179W)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 2335036	NM_004795.4(KL):c.581G>C (p.Trp194Ser)	KL (W194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1450925	NM_004795.4(KL):c.782C>T (p.Pro261Leu)	KL, LOC130009539 (P261L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2371449	NM_004795.4(KL):c.821C>T (p.Ala274Val)	KL (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365077	NM_004795.4(KL):c.860G>A (p.Arg287His)	KL (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326890	NM_004795.4(KL):c.889G>A (p.Ala297Thr)	KL (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624093	NM_004795.4(KL):c.1040C>G (p.Ser347Cys)	KL (S347C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881860	NM_004795.4(KL):c.1105C>G (p.Leu369Val)	KL (L369V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2069215	NM_004795.4(KL):c.1151T>C (p.Met384Thr)	KL (M384T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2469133	NM_004795.4(KL):c.1159C>T (p.Arg387Cys)	KL (R387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328154	NM_004795.4(KL):c.1169A>G (p.Glu390Gly)	KL (E390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527513	NM_004795.4(KL):c.1241A>G (p.Glu414Gly)	KL (E414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541251	NM_004795.4(KL):c.1375T>A (p.Ser459Thr)	KL (S459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3015573	NM_004795.4(KL):c.1392C>T (p.Phe464=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3115190	NM_004795.4(KL):c.1478C>T (p.Ser493Leu)	KL (S493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269964	NM_004795.4(KL):c.1660A>G (p.Ser554Gly)	KL (S554G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2240773	NM_004795.4(KL):c.1723T>A (p.Phe575Ile)	KL (F575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115191	NM_004795.4(KL):c.1726G>T (p.Ala576Ser)	KL (A576S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2055192	NM_004795.4(KL):c.1807C>G (p.Leu603Val)	KL (L603V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 883810	NM_004795.4(KL):c.1858C>T (p.Arg620Cys)	KL (R620C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GUncertain significance
Select item 2367863	NM_004795.4(KL):c.1873G>C (p.Glu625Gln)	KL (E625Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2514016	NM_004795.4(KL):c.1966G>A (p.Ala656Thr)	KL (A656T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1493127	NM_004795.4(KL):c.1987G>A (p.Ala663Thr)	KL (A663T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2385084	NM_004795.4(KL):c.2047C>A (p.Leu683Ile)	KL (L683I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807004	NM_004795.4(KL):c.2057C>T (p.Thr686Met)	KL (T686M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1426214	NM_004795.4(KL):c.2069C>T (p.Pro690Leu)	KL (P690L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2299692	NM_004795.4(KL):c.2072A>G (p.Tyr691Cys)	KL (Y691C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605604	NM_004795.4(KL):c.2138T>C (p.Val713Ala)	KL (V713A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115193	NM_004795.4(KL):c.2179T>G (p.Ser727Ala)	KL (S727A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493656	NM_004795.4(KL):c.2234A>T (p.Asp745Val)	KL (D745V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344758	NM_004795.4(KL):c.2251A>G (p.Arg751Gly)	KL (R751G)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 2275316	NM_004795.4(KL):c.2422C>T (p.His808Tyr)	KL (H808Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115194	NM_004795.4(KL):c.2462C>T (p.Pro821Leu)	KL (P821L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288773	NM_004795.4(KL):c.2474A>G (p.Asn825Ser)	KL (N825S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1493920	NM_004795.4(KL):c.2513G>C (p.Trp838Ser)	KL (W838S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GUncertain significance
Select item 311703	NM_004795.4(KL):c.2557C>T (p.Arg853Cys)	KL (R853C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 881927	NM_004795.4(KL):c.2571C>A (p.Asn857Lys)	KL (N857K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GUncertain significance
Select item 2350164	NM_004795.4(KL):c.2578A>G (p.Lys860Glu)	KL (K860E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2046250	NM_004795.4(KL):c.2593G>C (p.Asp865His)	KL (D865H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2082497	NM_004795.4(KL):c.2639A>G (p.His880Arg)	KL (H880R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1516674	NM_004795.4(KL):c.2758C>T (p.Arg920Cys)	KL (R920C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1438453	NM_004795.4(KL):c.2786G>A (p.Arg929His)	KL (R929H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2368204	NM_004795.4(KL):c.2824A>C (p.Lys942Gln)	KL (K942Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2258486	NM_004795.4(KL):c.2936G>A (p.Arg979Gln)	KL (R979Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 311708	NM_004795.4(KL):c.2959G>A (p.Ala987Thr)	KL (A987T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

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Items: 55