KL[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235549	NC_000013.11:g.33016276G>A	KL	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2055714	NC_000013.11:g.33016362_33016466del	KL	Deletion (genic upstream transcript variant)	not provided	GUncertain significance
Select item 2066855	NC_000013.11:g.33016361_33016468del	KL	Deletion (genic upstream transcript variant)	not provided	GUncertain significance
Select item 1485727	NM_004795.4(KL):c.4C>T (p.Pro2Ser)	KL (P2S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1421366	NM_004795.4(KL):c.7G>T (p.Ala3Ser)	KL (A3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750680	NM_004795.4(KL):c.12C>A (p.Ser4Arg)	KL (S4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982811	NM_004795.4(KL):c.12C>T (p.Ser4=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 881364	NM_004795.4(KL):c.15C>T (p.Ala5=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1981120	NM_004795.4(KL):c.34CCG[5] (p.Pro15_Ser16insPro)	KL	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2785144	NM_004795.4(KL):c.36G>A (p.Pro12=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832592	NM_004795.4(KL):c.38C>G (p.Pro13Arg)	KL (P13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446101	NM_004795.4(KL):c.46TCGCTG[3] (p.16SL[3])	KL	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2780901	NM_004795.4(KL):c.46TCGCTG[1] (p.16SL[1])	KL	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1415712	NM_004795.4(KL):c.58C>G (p.Leu20Val)	KL (L20V)	Single nucleotide variant (missense variant)	not provided	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 881808	NM_004795.4(KL):c.87C>T (p.Arg29=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 881809	NM_004795.4(KL):c.91C>T (p.Leu31=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2868219	NM_004795.4(KL):c.105G>A (p.Pro35=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185023	NM_004795.4(KL):c.120G>T (p.Gln40His)	KL (Q40H)	Single nucleotide variant (missense variant)	not provided	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 2881503	NM_004795.4(KL):c.126G>A (p.Trp42Ter)	KL (W42*)	Single nucleotide variant (nonsense)	not provided	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 2797563	NM_004795.4(KL):c.138G>C (p.Ser46=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311678	NM_004795.4(KL):c.140G>A (p.Arg47Gln)	KL (R47Q)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
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 1447707	NM_004795.4(KL):c.149C>T (p.Ala50Val)	KL (A50V)	Single nucleotide variant (missense variant)	not provided	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 1713707	NM_004795.4(KL):c.161C>T (p.Ala54Val)	KL (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311679	NM_004795.4(KL):c.191G>A (p.Gly64Asp)	KL (G64D)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 1617013	NM_004795.4(KL):c.225G>A (p.Gln75=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470296	NM_004795.4(KL):c.234del (p.Gly79fs)	KL (G79fs)	Deletion (frameshift variant)	not provided	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 1927863	NM_004795.4(KL):c.250G>T (p.Gly84Cys)	KL (G84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345701	NM_004795.4(KL):c.254A>G (p.Lys85Arg)	KL (K85R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1439474	NM_004795.4(KL):c.257G>A (p.Gly86Asp)	KL (G86D)	Single nucleotide variant (missense variant)	not provided +1 more	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 2029958	NM_004795.4(KL):c.267C>A (p.Ile89=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311680	NM_004795.4(KL):c.273T>C (p.Asp91=)	KL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1962770	NM_004795.4(KL):c.282C>A (p.Thr94=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1675034	NM_004795.4(KL):c.292C>T (p.Leu98=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2981867	NM_004795.4(KL):c.299C>T (p.Pro100Leu)	KL (P100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383279	NM_004795.4(KL):c.304G>C (p.Gly102Arg)	KL (G102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410941	NM_004795.4(KL):c.316A>C (p.Asn106His)	KL (N106H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030766	NM_004795.4(KL):c.319G>T (p.Ala107Ser)	KL (A107S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311681	NM_004795.4(KL):c.320C>T (p.Ala107Val)	KL (A107V)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 881810	NM_004795.4(KL):c.326T>G (p.Leu109Arg)	KL (L109R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 311682	NM_004795.4(KL):c.327G>C (p.Leu109=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2967652	NM_004795.4(KL):c.333G>C (p.Leu111Phe)	KL (L111F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004487	NM_004795.4(KL):c.337G>T (p.Ala113Ser)	KL (A113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986964	NM_004795.4(KL):c.339C>T (p.Ala113=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931928	NM_004795.4(KL):c.348G>T (p.Pro116=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998351	NM_004795.4(KL):c.366G>T (p.Gly122=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727045	NM_004795.4(KL):c.369C>T (p.Asp123=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050729	NM_004795.4(KL):c.370G>A (p.Val124Ile)	KL (V124I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402694	NM_004795.4(KL):c.379G>A (p.Asp127Asn)	KL (D127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64550	NM_004795.4(KL):c.387C>T (p.Tyr129=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 882959	NM_004795.4(KL):c.393C>A (p.Asn131Lys)	KL (N131K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 1367439	NM_004795.4(KL):c.398T>A (p.Phe133Tyr)	KL (F133Y)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1938072	NM_004795.4(KL):c.403G>T (p.Asp135Tyr)	KL (D135Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716311	NM_004795.4(KL):c.418C>T (p.Arg140Cys)	KL (R140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944195	NM_004795.4(KL):c.419G>A (p.Arg140His)	KL (R140H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882960	NM_004795.4(KL):c.426C>G (p.Leu142=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 882961	NM_004795.4(KL):c.442C>T (p.Arg148Cys)	KL (R148C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 2989513	NM_004795.4(KL):c.444C>G (p.Arg148=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882962	NM_004795.4(KL):c.450C>A (p.Ser150=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 2068113	NM_004795.4(KL):c.466G>C (p.Val156Leu)	KL (V156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311683	NM_004795.4(KL):c.476A>G (p.Asn159Ser)	KL (N159S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 2811297	NM_004795.4(KL):c.478G>A (p.Gly160Ser)	KL (G160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896079	NM_004795.4(KL):c.485C>T (p.Ala162Val)	KL (A162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537092	NM_004795.4(KL):c.486G>A (p.Ala162=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 64551	NM_004795.4(KL):c.497A>G (p.Asn166Ser)	KL (N166S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1488032	NM_004795.4(KL):c.511C>T (p.Arg171Cys)	KL (R171C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311684	NM_004795.4(KL):c.511C>A (p.Arg171Ser)	KL (R171S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1961180	NM_004795.4(KL):c.514T>C (p.Tyr172His)	KL (Y172H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716999	NM_004795.4(KL):c.521G>C (p.Arg174Pro)	KL (R174P)	Single nucleotide variant (missense variant)	not provided	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 1352549	NM_004795.4(KL):c.536G>A (p.Arg179Gln)	KL (R179Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556653	NM_004795.4(KL):c.537G>C (p.Arg179=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 2978054	NM_004795.4(KL):c.541C>G (p.Arg181Gly)	KL (R181G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085978	NM_004795.4(KL):c.542G>A (p.Arg181Gln)	KL (R181Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500309	NM_004795.4(KL):c.544G>T (p.Glu182Ter)	KL (E182*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1501260	NM_004795.4(KL):c.550G>A (p.Gly184Ser)	KL (G184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311685	NM_004795.4(KL):c.560C>T (p.Pro187Leu)	KL (P187L)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 5346	NM_004795.4(KL):c.578A>G (p.His193Arg)	KL (H193R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 2765280	NM_004795.4(KL):c.579C>T (p.His193=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1547525	NM_004795.4(KL):c.585C>T (p.Asp195=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311686	NM_004795.4(KL):c.595C>T (p.Arg199Cys)	KL (R199C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 710027	NM_004795.4(KL):c.607G>T (p.Ala203Ser)	KL (A203S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 883758	NM_004795.4(KL):c.611A>G (p.Tyr204Cys)	KL (Y204C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883759	NM_004795.4(KL):c.614G>A (p.Gly205Asp)	KL (G205D)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GLikely benign
Select item 1404478	NM_004795.4(KL):c.638C>A (p.Ala213Asp)	KL (A213D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534459	NM_004795.4(KL):c.639C>G (p.Ala213=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64552	NM_004795.4(KL):c.639C>A (p.Ala213=)	KL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1348828	NM_004795.4(KL):c.644A>G (p.His215Arg)	KL (H215R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883760	NM_004795.4(KL):c.656A>T (p.Tyr219Phe)	KL (Y219F)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 2711747	NM_004795.4(KL):c.660G>T (p.Ala220=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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