"Ambry Genetics"[submitter] AND "OBSL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179083	NM_001005209.3(TMEM198):c.218C>T (p.Ser73Leu)	OBSL1, TMEM198 (S73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286314	NM_001005209.3(TMEM198):c.235C>T (p.Leu79Phe)	OBSL1, TMEM198 (L79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565906	NM_001005209.3(TMEM198):c.413C>T (p.Ala138Val)	OBSL1, TMEM198 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533685	NM_001005209.3(TMEM198):c.466G>A (p.Gly156Ser)	OBSL1, TMEM198 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397994	NM_001005209.3(TMEM198):c.496C>T (p.Arg166Cys)	OBSL1, TMEM198 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462974	NM_001005209.3(TMEM198):c.497G>A (p.Arg166His)	OBSL1, TMEM198 (R166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179084	NM_001005209.3(TMEM198):c.532G>A (p.Val178Met)	OBSL1, TMEM198 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218432	NM_001005209.3(TMEM198):c.562G>A (p.Ala188Thr)	OBSL1, TMEM198 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287947	NM_001005209.3(TMEM198):c.574G>T (p.Ala192Ser)	OBSL1, TMEM198 (A192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614394	NM_001005209.3(TMEM198):c.575C>T (p.Ala192Val)	OBSL1, TMEM198 (A192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595867	NM_001005209.3(TMEM198):c.608A>G (p.Glu203Gly)	OBSL1, TMEM198 (E203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520798	NM_001005209.3(TMEM198):c.700G>T (p.Val234Leu)	OBSL1, TMEM198 (V234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589072	NM_001005209.3(TMEM198):c.737C>T (p.Thr246Met)	OBSL1, TMEM198 (T246M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285837	NM_001005209.3(TMEM198):c.767G>A (p.Arg256His)	OBSL1, TMEM198 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243003	NM_001005209.3(TMEM198):c.781C>T (p.Arg261Trp)	OBSL1, TMEM198 (R261W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223148	NM_001005209.3(TMEM198):c.883G>T (p.Asp295Tyr)	OBSL1, TMEM198 (D295Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406026	NM_001005209.3(TMEM198):c.920G>A (p.Arg307His)	OBSL1, TMEM198 (R307H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179086	NM_001005209.3(TMEM198):c.925A>G (p.Asn309Asp)	OBSL1, TMEM198 (N309D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542565	NM_001005209.3(TMEM198):c.1070C>T (p.Pro357Leu)	OBSL1, TMEM198 (P357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483205	NM_015311.3(OBSL1):c.5588A>G (p.His1863Arg)	OBSL1 (H1863R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593119	NM_015311.3(OBSL1):c.5564A>G (p.Glu1855Gly)	OBSL1 (E1855G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334464	NM_015311.3(OBSL1):c.5558A>G (p.Lys1853Arg)	OBSL1 (K1853R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344172	NM_015311.3(OBSL1):c.5514C>A (p.His1838Gln)	OBSL1 (H1838Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1018573	NM_015311.3(OBSL1):c.5441C>T (p.Pro1814Leu)	OBSL1 (P1814L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2316453	NM_015311.3(OBSL1):c.5312A>G (p.Lys1771Arg)	OBSL1 (K1771R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470602	NM_015311.3(OBSL1):c.5275A>G (p.Arg1759Gly)	OBSL1 (R1759G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1419220	NM_015311.3(OBSL1):c.5254G>A (p.Glu1752Lys)	OBSL1 (E1752K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898682	NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg)	OBSL1 (G1749R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 898683	NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met)	OBSL1 (T1748M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1504452	NM_015311.3(OBSL1):c.5209A>G (p.Thr1737Ala)	OBSL1 (T1737A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1046337	NM_015311.3(OBSL1):c.5183T>C (p.Val1728Ala)	OBSL1 (V1728A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3203904	NM_015311.3(OBSL1):c.5180C>G (p.Ser1727Trp)	OBSL1 (S1727W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1502816	NM_015311.3(OBSL1):c.5177G>C (p.Arg1726Pro)	OBSL1 (R1726P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1503135	NM_015311.3(OBSL1):c.5176C>T (p.Arg1726Trp)	OBSL1 (R1726W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1302655	NM_015311.3(OBSL1):c.5086G>A (p.Gly1696Arg)	OBSL1 (G1696R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2533389	NM_015311.3(OBSL1):c.5083G>A (p.Ala1695Thr)	OBSL1 (A1695T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239675	NM_015311.3(OBSL1):c.4952A>C (p.Glu1651Ala)	OBSL1 (E1651A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525420	NM_015311.3(OBSL1):c.4939A>G (p.Thr1647Ala)	OBSL1 (T1647A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320096	NM_015311.3(OBSL1):c.4909G>A (p.Asp1637Asn)	OBSL1 (D1637N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1519878	NM_015311.3(OBSL1):c.4898G>A (p.Arg1633Gln)	OBSL1 (R1633Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1370093	NM_015311.3(OBSL1):c.4897C>T (p.Arg1633Trp)	OBSL1 (R1633W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2184787	NM_015311.3(OBSL1):c.4894G>A (p.Val1632Met)	OBSL1 (V1632M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1041559	NM_015311.3(OBSL1):c.4861A>G (p.Arg1621Gly)	OBSL1 (R1621G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 895702	NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His)	OBSL1 (R1617H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2254034	NM_015311.3(OBSL1):c.4838C>T (p.Ala1613Val)	OBSL1 (A1613V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1020317	NM_015311.3(OBSL1):c.4784G>A (p.Arg1595Gln)	OBSL1 (R1595Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 334468	NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His)	OBSL1 (R1593H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2068439	NM_015311.3(OBSL1):c.4771G>A (p.Gly1591Ser)	OBSL1 (G1591S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2293061	NM_015311.3(OBSL1):c.4739A>G (p.Tyr1580Cys)	OBSL1 (Y1580C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535622	NM_015311.3(OBSL1):c.4696G>A (p.Glu1566Lys)	OBSL1 (E1566K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322282	NM_015311.3(OBSL1):c.4667G>A (p.Ser1556Asn)	OBSL1 (S1556N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203902	NM_015311.3(OBSL1):c.4655G>C (p.Ser1552Thr)	OBSL1 (S1552T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1386456	NM_015311.3(OBSL1):c.4630C>T (p.Arg1544Trp)	OBSL1 (R1544W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998413	NM_015311.3(OBSL1):c.4567G>A (p.Glu1523Lys)	OBSL1 (E1523K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2191387	NM_015311.3(OBSL1):c.4513C>T (p.His1505Tyr)	OBSL1 (H1505Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2392972	NM_015311.3(OBSL1):c.4492A>G (p.Met1498Val)	OBSL1 (M1498V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 895987	NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His)	OBSL1 (R1495H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1395292	NM_015311.3(OBSL1):c.4483C>T (p.Arg1495Cys)	OBSL1 (R1495C)	Single nucleotide variant (missense variant)	OBSL1-related condition +2 more	GUncertain significance
Select item 334471	NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn)	OBSL1 (D1493N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 497921	NM_015311.3(OBSL1):c.4445G>A (p.Arg1482His)	OBSL1 (R1482H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 334473	NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met)	OBSL1 (V1481M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2394670	NM_015311.3(OBSL1):c.4315A>G (p.Ser1439Gly)	OBSL1 (S1439G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203901	NM_015311.3(OBSL1):c.4305C>G (p.Ser1435Arg)	OBSL1 (S1435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495101	NM_015311.3(OBSL1):c.4244T>A (p.Ile1415Asn)	OBSL1 (I1415N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488530	NM_015311.3(OBSL1):c.4220T>A (p.Met1407Lys)	OBSL1 (M1407K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552108	NM_015311.3(OBSL1):c.4150T>A (p.Ser1384Thr)	OBSL1 (S1384T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 334480	NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile)	OBSL1 (V1383I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 895776	NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met)	OBSL1 (T1378M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1357999	NM_015311.3(OBSL1):c.4123G>A (p.Asp1375Asn)	OBSL1 (D1375N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2615319	NM_015311.3(OBSL1):c.4091C>T (p.Ser1364Leu)	OBSL1 (S1364L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3203900	NM_015311.3(OBSL1):c.4078G>A (p.Val1360Met)	OBSL1 (V1360M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1358370	NM_015311.3(OBSL1):c.4028C>T (p.Ala1343Val)	OBSL1 (A1343V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445296	NM_015311.3(OBSL1):c.4000G>A (p.Gly1334Arg)	OBSL1 (G1334R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1007880	NM_015311.3(OBSL1):c.3995G>A (p.Arg1332Gln)	OBSL1 (R1332Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030488	NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp)	OBSL1 (R1332W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2331801	NM_015311.3(OBSL1):c.3989G>A (p.Gly1330Glu)	OBSL1 (G1330E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 896059	NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln)	OBSL1 (R1327Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1041376	NM_015311.3(OBSL1):c.3979C>T (p.Arg1327Trp)	OBSL1 (R1327W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1019478	NM_015311.3(OBSL1):c.3974T>A (p.Val1325Glu)	OBSL1 (V1325E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2335171	NM_015311.3(OBSL1):c.3961G>A (p.Gly1321Arg)	OBSL1 (G1321R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203899	NM_015311.3(OBSL1):c.3941G>C (p.Arg1314Pro)	OBSL1 (R1314P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478173	NM_015311.3(OBSL1):c.3907T>C (p.Tyr1303His)	OBSL1 (Y1303H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177272	NM_015311.3(OBSL1):c.3901C>T (p.Arg1301Cys)	OBSL1 (R1301C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434481	NM_015311.3(OBSL1):c.3892G>A (p.Gly1298Ser)	OBSL1 (G1298S)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GUncertain significance
Select item 1423031	NM_015311.3(OBSL1):c.3883G>A (p.Gly1295Arg)	OBSL1 (G1295R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897647	NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg)	OBSL1 (G1285R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 809172	NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)	OBSL1 (G1284S)	Single nucleotide variant (missense variant)	3M syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1477985	NM_015311.3(OBSL1):c.3817G>A (p.Glu1273Lys)	OBSL1 (E1273K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1438836	NM_015311.3(OBSL1):c.3803G>A (p.Arg1268Gln)	OBSL1 (R1268Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2082485	NM_015311.3(OBSL1):c.3731C>T (p.Thr1244Ile)	OBSL1 (T1244I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2528117	NM_015311.3(OBSL1):c.3716A>G (p.His1239Arg)	OBSL1 (H1239R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362136	NM_015311.3(OBSL1):c.3700G>A (p.Ala1234Thr)	OBSL1 (A1234T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 334495	NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His)	OBSL1 (R1227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2392402	NM_015311.3(OBSL1):c.3679C>T (p.Arg1227Cys)	OBSL1 (R1227C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203897	NM_015311.3(OBSL1):c.3677C>T (p.Pro1226Leu)	OBSL1 (P1226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431956	NM_015311.3(OBSL1):c.3548T>C (p.Leu1183Pro)	OBSL1 (L1183P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227489	NM_015311.3(OBSL1):c.3467G>A (p.Arg1156Gln)	OBSL1 (R1156Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2314875	NM_015311.3(OBSL1):c.3466C>T (p.Arg1156Trp)	OBSL1 (R1156W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1502955	NM_015311.3(OBSL1):c.3454G>A (p.Val1152Met)	OBSL1 (V1152M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1063918	NM_015311.3(OBSL1):c.3427G>A (p.Ala1143Thr)	OBSL1 (A1143T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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