4486[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2395114	NM_002447.4(MST1R):c.4171C>T (p.Arg1391Trp)	MST1R (R1342W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324909	NM_002447.4(MST1R):c.4154G>T (p.Gly1385Val)	MST1R (G1336V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491557	NM_002447.4(MST1R):c.4141T>C (p.Ser1381Pro)	MST1R (S1275P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1049215	NM_002447.4(MST1R):c.4129C>T (p.Gln1377Ter)	MST1R (Q1271* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2472967	NM_002447.4(MST1R):c.4042C>A (p.Leu1348Met)	MST1R (L1242M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058886	NM_002447.4(MST1R):c.4003A>G (p.Arg1335Gly)	MST1R (R1229G +2 more)	Single nucleotide variant (missense variant +1 more)	MST1R-related disorder	GBenign
Select item 708319	NM_002447.4(MST1R):c.3996C>T (p.Pro1332=)	MST1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3296486	NM_002447.4(MST1R):c.3992G>A (p.Arg1331Gln)	MST1R (R1282Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592365	NM_002447.4(MST1R):c.3914G>A (p.Arg1305His)	MST1R (R1199H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296478	NM_002447.4(MST1R):c.3911G>A (p.Arg1304Gln)	MST1R (R1198Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495095	NM_002447.4(MST1R):c.3910C>T (p.Arg1304Trp)	MST1R (R1198W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296489	NM_002447.4(MST1R):c.3866G>A (p.Arg1289His)	MST1R (R1183H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296485	NM_002447.4(MST1R):c.3866G>T (p.Arg1289Leu)	MST1R (R1289L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296479	NM_002447.4(MST1R):c.3836A>T (p.Glu1279Val)	MST1R (E1173V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055583	NM_002447.4(MST1R):c.3811-10C>A	MST1R	Single nucleotide variant (intron variant)	MST1R-related disorder	GBenign
Select item 2229464	NM_002447.4(MST1R):c.3764C>T (p.Ala1255Val)	MST1R (A1206V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518499	NM_002447.4(MST1R):c.3749C>T (p.Pro1250Leu)	MST1R (P1201L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345630	NM_002447.4(MST1R):c.3743G>A (p.Arg1248His)	MST1R (R1142H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296476	NM_002447.4(MST1R):c.3742C>T (p.Arg1248Cys)	MST1R (R1248C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212718	NM_002447.4(MST1R):c.3719G>C (p.Ser1240Thr)	MST1R (S1134T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524697	NM_002447.4(MST1R):c.3694G>A (p.Asp1232Asn)	MST1R (D1126N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727440	NM_002447.4(MST1R):c.3693C>T (p.Arg1231=)	MST1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3212715	NM_002447.4(MST1R):c.3692G>A (p.Arg1231His)	MST1R (R1125H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404258	NM_002447.4(MST1R):c.3580C>T (p.Arg1194Cys)	MST1R (R1088C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215922	NM_002447.4(MST1R):c.3578C>T (p.Ala1193Val)	MST1R (A1087V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342070	NM_002447.4(MST1R):c.3532C>T (p.Arg1178Trp)	MST1R (R1129W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363885	NM_002447.4(MST1R):c.3521G>A (p.Arg1174His)	MST1R (R1174H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212704	NM_002447.4(MST1R):c.3512A>G (p.Gln1171Arg)	MST1R (Q1122R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220349	NM_002447.4(MST1R):c.3488A>G (p.Tyr1163Cys)	MST1R (Y1114C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212697	NM_002447.4(MST1R):c.3448A>G (p.Met1150Val)	MST1R (M1044V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3212694	NM_002447.4(MST1R):c.3376G>A (p.Glu1126Lys)	MST1R (E1126K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212688	NM_002447.4(MST1R):c.3323G>T (p.Arg1108Leu)	MST1R (R1002L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296481	NM_002447.4(MST1R):c.3259G>C (p.Val1087Leu)	MST1R (V1038L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515809	NM_002447.4(MST1R):c.3157C>T (p.Arg1053Trp)	MST1R (R1053W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312436	NM_002447.4(MST1R):c.3149C>T (p.Pro1050Leu)	MST1R (P1050L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653848	NM_002447.4(MST1R):c.3129T>C (p.Ser1043=)	MST1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2220618	NM_002447.4(MST1R):c.3120C>G (p.Phe1040Leu)	MST1R (F991L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400231	NM_002447.4(MST1R):c.3113C>T (p.Ala1038Val)	MST1R (A932V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302153	NM_002447.4(MST1R):c.3082G>A (p.Gly1028Ser)	MST1R (G979S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212676	NM_002447.4(MST1R):c.3077T>C (p.Ile1026Thr)	MST1R (I977T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3296487	NM_002447.4(MST1R):c.3007G>A (p.Ala1003Thr)	MST1R (A1003T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385802	NM_002447.4(MST1R):c.2840G>C (p.Arg947Pro)	MST1R (R841P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591102	NM_002447.4(MST1R):c.2839C>T (p.Arg947Trp)	MST1R (R841W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385071	NM_002447.4(MST1R):c.2779G>A (p.Asp927Asn)	MST1R (D821N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271134	NM_002447.4(MST1R):c.2735A>T (p.Asp912Val)	MST1R (D806V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3043026	NM_002447.4(MST1R):c.2730G>A (p.Arg910=)	MST1R	Single nucleotide variant (synonymous variant +2 more)	MST1R-related disorder	GBenign
Select item 748929	NM_002447.4(MST1R):c.2729G>A (p.Arg910Gln)	MST1R (R910Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2514160	NM_002447.4(MST1R):c.2728C>T (p.Arg910Trp)	MST1R (R804W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304246	NM_002447.4(MST1R):c.2722G>A (p.Glu908Lys)	MST1R (E908K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048553	NM_002447.4(MST1R):c.2553C>G (p.Gly851=)	MST1R	Single nucleotide variant (synonymous variant +1 more)	MST1R-related disorder	GLikely benign
Select item 3212659	NM_002447.4(MST1R):c.2552G>C (p.Gly851Ala)	MST1R (G851A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296491	NM_002447.4(MST1R):c.2542G>A (p.Gly848Arg)	MST1R (G848R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357731	NM_002447.4(MST1R):c.2484A>C (p.Glu828Asp)	MST1R (E828D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522279	NM_002447.4(MST1R):c.2482G>A (p.Glu828Lys)	MST1R (E722K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 793343	NM_002447.4(MST1R):c.2464C>G (p.Gln822Glu)	MST1R (Q716E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 712681	NM_002447.4(MST1R):c.2443G>C (p.Glu815Gln)	MST1R (E709Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2276176	NM_002447.4(MST1R):c.2416G>A (p.Gly806Arg)	MST1R (G806R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041767	NM_002447.4(MST1R):c.2415C>T (p.Asp805=)	MST1R	Single nucleotide variant (synonymous variant +1 more)	MST1R-related disorder	GLikely benign
Select item 3058361	NM_002447.4(MST1R):c.2358C>T (p.Ile786=)	MST1R	Single nucleotide variant (synonymous variant +1 more)	MST1R-related disorder	GLikely benign
Select item 3035698	NM_002447.4(MST1R):c.2333A>C (p.Asn778Thr)	MST1R (N672T +1 more)	Single nucleotide variant (missense variant +1 more)	MST1R-related disorder	GLikely benign
Select item 3212645	NM_002447.4(MST1R):c.2266G>A (p.Ala756Thr)	MST1R (A650T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296483	NM_002447.4(MST1R):c.2199G>C (p.Gln733His)	MST1R (Q627H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258083	NM_002447.4(MST1R):c.2142C>G (p.Ser714Arg)	MST1R (S714R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789985	NM_002447.4(MST1R):c.2068C>T (p.Gln690Ter)	MST1R (Q584* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 3212642	NM_002447.4(MST1R):c.1963G>A (p.Val655Ile)	MST1R (V549I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2492963	NM_002447.4(MST1R):c.1886T>C (p.Val629Ala)	MST1R (V629A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034873	NM_002447.4(MST1R):c.1869C>G (p.Ser623Arg)	MST1R (S517R +1 more)	Single nucleotide variant (missense variant +1 more)	MST1R-related disorder	GLikely benign
Select item 727441	NM_002447.4(MST1R):c.1861A>T (p.Lys621Ter)	MST1R (K515* +1 more)	Single nucleotide variant (nonsense +1 more)	Nasopharyngeal carcinoma, susceptibility to, 3 +1 more	GBenign/Likely benign
Select item 3296480	NM_002447.4(MST1R):c.1853C>T (p.Pro618Leu)	MST1R (P618L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2212942	NM_002447.4(MST1R):c.1850G>A (p.Arg617Gln)	MST1R (R617Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403115	NM_002447.4(MST1R):c.1838A>C (p.Gln613Pro)	MST1R (Q613P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3060386	NM_002447.4(MST1R):c.1827C>T (p.Val609=)	MST1R	Single nucleotide variant (synonymous variant +1 more)	MST1R-related disorder	GBenign
Select item 3212630	NM_002447.4(MST1R):c.1820A>C (p.His607Pro)	MST1R (H501P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404215	NM_002447.4(MST1R):c.1814G>A (p.Gly605Glu)	MST1R (G605E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256341	NM_002447.4(MST1R):c.1784A>G (p.Tyr595Cys)	MST1R (Y489C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539908	NM_002447.4(MST1R):c.1775C>G (p.Ser592Cys)	MST1R (S592C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518215	NM_002447.4(MST1R):c.1604G>A (p.Arg535His)	MST1R (R535H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212615	NM_002447.4(MST1R):c.1583G>T (p.Arg528Leu)	MST1R (R422L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1237612	NM_002447.4(MST1R):c.1568A>G (p.Gln523Arg)	MST1R (Q417R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2515926	NM_002447.4(MST1R):c.1567C>G (p.Gln523Glu)	MST1R (Q417E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212602	NM_002447.4(MST1R):c.1516G>A (p.Gly506Arg)	MST1R (G506R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325090	NM_002447.4(MST1R):c.1499G>A (p.Arg500Gln)	MST1R (R500Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301980	NM_002447.4(MST1R):c.1498C>T (p.Arg500Trp)	MST1R (R500W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 774297	NM_002447.4(MST1R):c.1488G>A (p.Gln496=)	MST1R	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 800321	NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr)	MST1R (D493Y)	Single nucleotide variant (missense variant +2 more)	Multiple myeloma	GLikely pathogenic
Select item 3035390	NM_002447.4(MST1R):c.1365C>A (p.Arg455=)	MST1R	Single nucleotide variant (synonymous variant +2 more)	MST1R-related disorder	GLikely benign
Select item 784007	NM_002447.4(MST1R):c.1319A>G (p.Asn440Ser)	MST1R (N440S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2391528	NM_002447.4(MST1R):c.1304G>A (p.Arg435His)	MST1R (R435H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3039935	NM_002447.4(MST1R):c.1301C>T (p.Ser434Leu)	MST1R (S434L)	Single nucleotide variant (missense variant +2 more)	MST1R-related disorder	GBenign
Select item 3039565	NM_002447.4(MST1R):c.1229C>T (p.Pro410Leu)	MST1R (P410L)	Single nucleotide variant (missense variant +1 more)	MST1R-related disorder	GBenign
Select item 2603336	NM_002447.4(MST1R):c.1208C>T (p.Ser403Leu)	MST1R (S403L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3212584	NM_002447.4(MST1R):c.1161A>C (p.Glu387Asp)	MST1R (E387D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296490	NM_002447.4(MST1R):c.1135G>T (p.Asp379Tyr)	MST1R (D379Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296484	NM_002447.4(MST1R):c.1078G>A (p.Val360Met)	MST1R (V360M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599614	NM_002447.4(MST1R):c.1050T>A (p.Phe350Leu)	MST1R (F350L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516816	NM_002447.4(MST1R):c.1043G>A (p.Gly348Glu)	MST1R (G348E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212774	NM_002447.4(MST1R):c.995A>C (p.Gln332Pro)	MST1R (Q332P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049925	NM_002447.4(MST1R):c.979G>A (p.Ala327Thr)	MST1R (A327T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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