ClinVar for Gene (Select 54875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268281	NM_017738.4(CNTLN):c.110A>T (p.Glu37Val)	CNTLN (E37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268280	NM_017738.4(CNTLN):c.1675C>A (p.His559Asn)	CNTLN (H559N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268279	NM_017738.4(CNTLN):c.538G>C (p.Glu180Gln)	CNTLN (E180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268278	NM_017738.4(CNTLN):c.4204A>T (p.Met1402Leu)	CNTLN (M1401L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268276	NM_017738.4(CNTLN):c.2764A>G (p.Thr922Ala)	CNTLN (T921A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268275	NM_017738.4(CNTLN):c.2279T>G (p.Leu760Arg)	CNTLN (L760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268274	NM_017738.4(CNTLN):c.3529A>G (p.Lys1177Glu)	CNTLN (K1176E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268273	NM_017738.4(CNTLN):c.3139C>T (p.Leu1047Phe)	CNTLN (L1046F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268272	NM_017738.4(CNTLN):c.3254G>A (p.Ser1085Asn)	CNTLN (S1084N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268271	NM_017738.4(CNTLN):c.2882C>G (p.Pro961Arg)	CNTLN (P960R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268270	NM_017738.4(CNTLN):c.3014C>T (p.Ala1005Val)	CNTLN (A1004V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268269	NM_017738.4(CNTLN):c.3928A>G (p.Lys1310Glu)	CNTLN (K1309E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268268	NM_017738.4(CNTLN):c.3233G>A (p.Arg1078Gln)	CNTLN (R1077Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268267	NM_017738.4(CNTLN):c.2867C>T (p.Ser956Leu)	CNTLN (S955L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268265	NM_017738.4(CNTLN):c.2959C>G (p.Arg987Gly)	CNTLN (R986G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146724	NM_017738.4(CNTLN):c.886G>A (p.Val296Ile)	CNTLN (V296I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146723	NM_017738.4(CNTLN):c.86C>T (p.Ala29Val)	CNTLN (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146722	NM_017738.4(CNTLN):c.824A>G (p.Lys275Arg)	CNTLN (K275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146721	NM_017738.4(CNTLN):c.545T>C (p.Val182Ala)	CNTLN (V182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146720	NM_017738.4(CNTLN):c.4172A>C (p.Lys1391Thr)	CNTLN (K1391T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146719	NM_017738.4(CNTLN):c.4037A>T (p.Gln1346Leu)	CNTLN (Q1346L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146718	NM_017738.4(CNTLN):c.4001G>A (p.Arg1334Gln)	CNTLN (R1333Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146717	NM_017738.4(CNTLN):c.3899G>A (p.Arg1300Gln)	CNTLN (R1300Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146716	NM_017738.4(CNTLN):c.383C>G (p.Ser128Cys)	CNTLN (S128C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146715	NM_017738.4(CNTLN):c.3833A>C (p.Glu1278Ala)	CNTLN (E1277A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146714	NM_017738.4(CNTLN):c.3742G>A (p.Ala1248Thr)	CNTLN (A1247T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146713	NM_017738.4(CNTLN):c.3721A>G (p.Met1241Val)	CNTLN (M1240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146712	NM_017738.4(CNTLN):c.369A>C (p.Lys123Asn)	CNTLN (K123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146711	NM_017738.4(CNTLN):c.3274T>A (p.Leu1092Met)	CNTLN (L1092M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146710	NM_017738.4(CNTLN):c.3070C>G (p.Gln1024Glu)	CNTLN (Q1024E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146709	NM_017738.4(CNTLN):c.3061C>T (p.His1021Tyr)	CNTLN (H1020Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146708	NM_017738.4(CNTLN):c.3018A>C (p.Glu1006Asp)	CNTLN (E1005D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146707	NM_017738.4(CNTLN):c.2645C>G (p.Thr882Ser)	CNTLN (T882S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146706	NM_017738.4(CNTLN):c.252G>T (p.Met84Ile)	CNTLN (M84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146705	NM_017738.4(CNTLN):c.2456A>G (p.Tyr819Cys)	CNTLN (Y819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146704	NM_017738.4(CNTLN):c.2401T>C (p.Ser801Pro)	CNTLN (S801P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146703	NM_017738.4(CNTLN):c.224C>G (p.Ala75Gly)	CNTLN (A75G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146702	NM_017738.4(CNTLN):c.214G>A (p.Ala72Thr)	CNTLN (A72T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146701	NM_017738.4(CNTLN):c.211G>A (p.Gly71Arg)	CNTLN (G71R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3146700	NM_017738.4(CNTLN):c.1966T>A (p.Cys656Ser)	CNTLN (C656S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146699	NM_017738.4(CNTLN):c.1863A>T (p.Glu621Asp)	CNTLN (E621D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146698	NM_017738.4(CNTLN):c.181G>A (p.Glu61Lys)	CNTLN (E61K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146697	NM_017738.4(CNTLN):c.168C>G (p.Ile56Met)	CNTLN (I56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146696	NM_017738.4(CNTLN):c.1685G>A (p.Arg562His)	CNTLN (R562H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146695	NM_017738.4(CNTLN):c.1553C>G (p.Pro518Arg)	CNTLN (P518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146694	NM_017738.4(CNTLN):c.1442A>C (p.Lys481Thr)	CNTLN (K481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146693	NM_017738.4(CNTLN):c.1232A>G (p.Gln411Arg)	CNTLN (Q411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146692	NM_017738.4(CNTLN):c.116C>T (p.Ser39Leu)	CNTLN (S39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685342	GRCh37/hg19 9p22.2-22.1(chr9:16814127-19131921)x1	ADAMTSL1, BNC2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684574	GRCh37/hg19 9p22.2(chr9:16629923-17450346)x3	BNC2, CNTLN	Copy number gain	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2681202	NM_017738.4(CNTLN):c.1723G>T (p.Ala575Ser)	CNTLN (A575S)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2621043	NM_017738.4(CNTLN):c.2027G>C (p.Arg676Thr)	CNTLN (R676T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604278	NM_017738.4(CNTLN):c.4040T>C (p.Val1347Ala)	CNTLN (V1346A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604233	NM_017738.4(CNTLN):c.3685C>T (p.Leu1229Phe)	CNTLN (L1229F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598515	NM_017738.4(CNTLN):c.1250A>G (p.Gln417Arg)	CNTLN (Q417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593278	NM_017738.4(CNTLN):c.3631C>A (p.Gln1211Lys)	CNTLN (Q1210K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588141	NM_017738.4(CNTLN):c.2521C>T (p.Arg841Cys)	CNTLN (R841C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559989	NM_017738.4(CNTLN):c.1715A>G (p.Asn572Ser)	CNTLN (N572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557523	NM_017738.4(CNTLN):c.3706G>C (p.Glu1236Gln)	CNTLN (E1236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555033	NM_017738.4(CNTLN):c.823A>C (p.Lys275Gln)	CNTLN (K275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555032	NM_017738.4(CNTLN):c.2912A>G (p.Asn971Ser)	CNTLN (N970S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553208	NM_017738.4(CNTLN):c.2560A>G (p.Ser854Gly)	CNTLN (S854G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552862	NM_017738.4(CNTLN):c.2924A>C (p.Gln975Pro)	CNTLN (Q975P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551485	NM_017738.4(CNTLN):c.1612A>G (p.Ile538Val)	CNTLN (I538V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551390	NM_017738.4(CNTLN):c.365A>T (p.Asp122Val)	CNTLN (D59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546259	NM_017738.4(CNTLN):c.2879T>G (p.Val960Gly)	CNTLN (V960G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543726	NM_017738.4(CNTLN):c.2023A>G (p.Lys675Glu)	CNTLN (K675E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535272	NM_017738.4(CNTLN):c.1769C>A (p.Thr590Asn)	CNTLN (T590N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533280	NM_017738.4(CNTLN):c.2293A>C (p.Ser765Arg)	CNTLN (S765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527131	NM_017738.4(CNTLN):c.4129G>C (p.Ala1377Pro)	CNTLN (A1376P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526153	NM_017738.4(CNTLN):c.40C>T (p.Pro14Ser)	CNTLN (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521023	NM_017738.4(CNTLN):c.3284A>T (p.Lys1095Met)	CNTLN (K1094M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517501	NM_017738.4(CNTLN):c.2805T>G (p.Phe935Leu)	CNTLN (F934L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2517137	NM_017738.4(CNTLN):c.2522G>A (p.Arg841His)	CNTLN (R841H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508948	NM_017738.4(CNTLN):c.1709A>G (p.Gln570Arg)	CNTLN (Q570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494345	NM_017738.4(CNTLN):c.4032A>C (p.Glu1344Asp)	CNTLN (E1343D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489694	NM_017738.4(CNTLN):c.1363T>C (p.Ser455Pro)	CNTLN (S455P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484314	NM_017738.4(CNTLN):c.2521C>G (p.Arg841Gly)	CNTLN (R841G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482552	NM_017738.4(CNTLN):c.59C>A (p.Pro20His)	CNTLN (P20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469657	NM_017738.4(CNTLN):c.3454G>A (p.Asp1152Asn)	CNTLN (D1151N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469296	NM_017738.4(CNTLN):c.242G>T (p.Ser81Ile)	CNTLN (S81I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465382	NM_017738.4(CNTLN):c.3077C>G (p.Ser1026Cys)	CNTLN (S1026C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458087	NM_017738.4(CNTLN):c.3985A>G (p.Ile1329Val)	CNTLN (I1328V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454199	NM_017738.4(CNTLN):c.4060A>T (p.Ile1354Phe)	CNTLN (I1353F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409510	NM_017738.4(CNTLN):c.919T>C (p.Ser307Pro)	CNTLN (S307P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384159	NM_017738.4(CNTLN):c.1933A>G (p.Ile645Val)	CNTLN (I645V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376961	NM_017738.4(CNTLN):c.568C>T (p.Leu190Phe)	CNTLN (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372144	NM_017738.4(CNTLN):c.1020G>C (p.Gln340His)	CNTLN (Q340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371353	NM_017738.4(CNTLN):c.2959C>T (p.Arg987Trp)	CNTLN (R986W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369042	NM_017738.4(CNTLN):c.3143G>A (p.Arg1048Gln)	CNTLN (R1048Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368383	NM_017738.4(CNTLN):c.2498C>T (p.Ala833Val)	CNTLN (A833V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360574	NM_017738.4(CNTLN):c.2690C>T (p.Thr897Met)	CNTLN (T897M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353747	NM_017738.4(CNTLN):c.1820A>T (p.Asp607Val)	CNTLN (D607V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351571	NM_017738.4(CNTLN):c.649G>C (p.Asp217His)	CNTLN (D217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350569	NM_017738.4(CNTLN):c.2884A>G (p.Thr962Ala)	CNTLN (T962A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346724	NM_017738.4(CNTLN):c.3856G>C (p.Ala1286Pro)	CNTLN (A1285P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332534	NM_017738.4(CNTLN):c.4001G>T (p.Arg1334Leu)	CNTLN (R1333L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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