C4693864[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 881808	NM_004795.4(KL):c.87C>T (p.Arg29=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +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 311678	NM_004795.4(KL):c.140G>A (p.Arg47Gln)	KL (R47Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 311680	NM_004795.4(KL):c.273T>C (p.Asp91=)	KL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 311681	NM_004795.4(KL):c.320C>T (p.Ala107Val)	KL (A107V)	Single nucleotide variant (missense variant)	not provided +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 +2 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 64550	NM_004795.4(KL):c.387C>T (p.Tyr129=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +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 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 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 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 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 883757	NM_004795.4(KL):c.535C>T (p.Arg179Trp)	KL (R179W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 311685	NM_004795.4(KL):c.560C>T (p.Pro187Leu)	KL (P187L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311686	NM_004795.4(KL):c.595C>T (p.Arg199Cys)	KL (R199C)	Single nucleotide variant (missense variant)	not provided +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 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 883761	NM_004795.4(KL):c.747C>T (p.Ala249=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 881420	NM_004795.4(KL):c.764C>T (p.Pro255Leu)	KL (P255L)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 881421	NM_004795.4(KL):c.802G>A (p.Ala268Thr)	KL, LOC130009539 (A268T)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311687	NM_004795.4(KL):c.911A>G (p.Asn304Ser)	KL (N304S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 311688	NM_004795.4(KL):c.956C>T (p.Ser319Phe)	KL (S319F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311689	NM_004795.4(KL):c.967G>A (p.Val323Ile)	KL (V323I)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 881422	NM_004795.4(KL):c.974G>T (p.Gly325Val)	KL (G325V)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 881423	NM_004795.4(KL):c.1014C>A (p.Pro338=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311690	NM_004795.4(KL):c.1054T>G (p.Phe352Val)	KL (F352V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 881860	NM_004795.4(KL):c.1105C>G (p.Leu369Val)	KL (L369V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 311691	NM_004795.4(KL):c.1109G>C (p.Cys370Ser)	KL (C370S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 311692	NM_004795.4(KL):c.1155G>A (p.Lys385=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 881861	NM_004795.4(KL):c.1188A>G (p.Gln396=)	KL	Single nucleotide variant (synonymous variant)	KL-related condition +2 more	GConflicting classifications of pathogenicity
Select item 881862	NM_004795.4(KL):c.1331-4G>A	KL	Single nucleotide variant (intron variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311693	NM_004795.4(KL):c.1331-3C>A	KL	Single nucleotide variant (intron variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 881863	NM_004795.4(KL):c.1374G>C (p.Trp458Cys)	KL (W458C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311694	NM_004795.4(KL):c.1407T>C (p.Gly469=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 883027	NM_004795.4(KL):c.1419G>A (p.Arg473=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GConflicting classifications of pathogenicity
Select item 311695	NM_004795.4(KL):c.1540C>T (p.Pro514Ser)	KL (P514S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 883028	NM_004795.4(KL):c.1557T>A (p.Phe519Leu)	KL (F519L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311696	NM_004795.4(KL):c.1593C>T (p.Tyr531=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 311697	NM_004795.4(KL):c.1599+14C>G	KL	Single nucleotide variant (intron variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883029	NM_004795.4(KL):c.1626C>T (p.Thr542=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 883030	NM_004795.4(KL):c.1718T>C (p.Val573Ala)	KL (V573A)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311698	NM_004795.4(KL):c.1767C>T (p.His589=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 311699	NM_004795.4(KL):c.1780C>T (p.Arg594Cys)	KL (R594C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 311700	NM_004795.4(KL):c.1811C>A (p.Pro604His)	KL (P604H)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883809	NM_004795.4(KL):c.1848G>A (p.Leu616=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883810	NM_004795.4(KL):c.1858C>T (p.Arg620Cys)	KL (R620C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 883811	NM_004795.4(KL):c.1860C>A (p.Arg620=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 883812	NM_004795.4(KL):c.1873G>A (p.Glu625Lys)	KL (E625K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 883813	NM_004795.4(KL):c.1945C>T (p.Arg649Cys)	KL (R649C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 883814	NM_004795.4(KL):c.2226C>T (p.Ser742=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311701	NM_004795.4(KL):c.2247T>C (p.Ala749=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 311702	NM_004795.4(KL):c.2259G>A (p.Leu753=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881481	NM_004795.4(KL):c.2296G>C (p.Gly766Arg)	KL (G766R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 881480	NM_004795.4(KL):c.2296G>A (p.Gly766Ser)	KL (G766S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GBenign/Likely benign
Select item 881482	NM_004795.4(KL):c.2298C>G (p.Gly766=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881483	NM_004795.4(KL):c.2300C>G (p.Ser767Cys)	KL (S767C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 881484	NM_004795.4(KL):c.2532G>A (p.Gln844=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GBenign/Likely benign
Select item 311703	NM_004795.4(KL):c.2557C>T (p.Arg853Cys)	KL (R853C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 881927	NM_004795.4(KL):c.2571C>A (p.Asn857Lys)	KL (N857K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 311704	NM_004795.4(KL):c.2572T>A (p.Trp858Arg)	KL (W858R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311705	NM_004795.4(KL):c.2619T>C (p.Asn873=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 311706	NM_004795.4(KL):c.2626G>A (p.Asp876Asn)	KL (D876N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 881928	NM_004795.4(KL):c.2688C>T (p.Asn896=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 631699	NM_004795.4(KL):c.2702-1G>C	KL	Single nucleotide variant (splice acceptor variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 311707	NM_004795.4(KL):c.2779C>T (p.Leu927Phe)	KL (L927F)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 883105	NM_004795.4(KL):c.2874T>G (p.Thr958=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 883106	NM_004795.4(KL):c.2904C>T (p.Thr968=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311708	NM_004795.4(KL):c.2959G>A (p.Ala987Thr)	KL (A987T)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GUncertain significance
Select item 883107	NM_004795.4(KL):c.2995C>A (p.Leu999Ile)	KL (L999I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311709	NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys)	KL (Y1003C)	Single nucleotide variant (missense variant)	KL-related condition +2 more	GBenign
Select item 311710	NM_004795.4(KL):c.*8C>T	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883108	NM_004795.4(KL):c.*17A>G	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311711	NM_004795.4(KL):c.*26T>G	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311712	NM_004795.4(KL):c.*32A>G	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GLikely benign
Select item 883880	NM_004795.4(KL):c.*93A>C	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311713	NM_004795.4(KL):c.*174A>G	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883881	NM_004795.4(KL):c.*203G>T	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883882	NM_004795.4(KL):c.*218G>A	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883883	NM_004795.4(KL):c.*263A>G	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883884	NM_004795.4(KL):c.*380A>G	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311715	NM_004795.4(KL):c.*407T>C	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GLikely benign
Select item 880587	NM_004795.4(KL):c.*466A>T	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311716	NM_004795.4(KL):c.*510C>T	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GLikely benign
Select item 311717	NM_004795.4(KL):c.*543G>A	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GBenign
Select item 880588	NM_004795.4(KL):c.*587G>C	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311718	NM_004795.4(KL):c.*722T>C	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GLikely benign
Select item 311719	NM_004795.4(KL):c.*735G>A	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311720	NM_004795.4(KL):c.*771C>T	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 880589	NM_004795.4(KL):c.*793G>T	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 882001	NM_004795.4(KL):c.*810G>A	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 882002	NM_004795.4(KL):c.*853T>C	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311721	NM_004795.4(KL):c.*934T>A	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311722	NM_004795.4(KL):c.*1007T>C	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 311723	NM_004795.4(KL):c.*1182T>C	KL	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance

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