OBSL1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1103

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 2286314	NM_001005209.3(TMEM198):c.235C>T (p.Leu79Phe)	OBSL1, TMEM198 (L79F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565906	NM_001005209.3(TMEM198):c.413C>T (p.Ala138Val)	OBSL1, TMEM198 (A138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533685	NM_001005209.3(TMEM198):c.466G>A (p.Gly156Ser)	OBSL1, TMEM198 (G156S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397994	NM_001005209.3(TMEM198):c.496C>T (p.Arg166Cys)	TMEM198, OBSL1 (R166C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462974	NM_001005209.3(TMEM198):c.497G>A (p.Arg166His)	OBSL1, TMEM198 (R166H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218432	NM_001005209.3(TMEM198):c.562G>A (p.Ala188Thr)	OBSL1, TMEM198 (A188T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287947	NM_001005209.3(TMEM198):c.574G>T (p.Ala192Ser)	TMEM198, OBSL1 (A192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614394	NM_001005209.3(TMEM198):c.575C>T (p.Ala192Val)	OBSL1, TMEM198 (A192V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595867	NM_001005209.3(TMEM198):c.608A>G (p.Glu203Gly)	OBSL1, TMEM198 (E203G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520798	NM_001005209.3(TMEM198):c.700G>T (p.Val234Leu)	OBSL1, TMEM198 (V234L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589072	NM_001005209.3(TMEM198):c.737C>T (p.Thr246Met)	OBSL1, TMEM198 (T246M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285837	NM_001005209.3(TMEM198):c.767G>A (p.Arg256His)	OBSL1, TMEM198 (R256H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243003	NM_001005209.3(TMEM198):c.781C>T (p.Arg261Trp)	TMEM198, OBSL1 (R261W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223148	NM_001005209.3(TMEM198):c.883G>T (p.Asp295Tyr)	OBSL1, TMEM198 (D295Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406026	NM_001005209.3(TMEM198):c.920G>A (p.Arg307His)	TMEM198, OBSL1 (R307H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542565	NM_001005209.3(TMEM198):c.1070C>T (p.Pro357Leu)	OBSL1, TMEM198 (P357L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 334458	NM_015311.3(OBSL1):c.102_103insTA	OBSL1	Insertion (3 prime UTR variant)	3-M syndrome	GUncertain significance
Select item 763275	NM_015311.3(OBSL1):c.5684-4G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276422	NM_015311.3(OBSL1):c.5684-37TC[2]	OBSL1	Microsatellite (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 1287989	NM_015311.3(OBSL1):c.5684-82A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296814	NM_015311.3(OBSL1):c.5684-153C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257438	NM_015311.3(OBSL1):c.5684-188G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234756	NM_015311.3(OBSL1):c.5684-270T>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247466	NM_015311.3(OBSL1):c.5683+87A>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429255	NM_015311.3(OBSL1):c.5683+1G>C	OBSL1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 334459	NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 334460	NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn)	OBSL1 (S1886N)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 2796064	NM_015311.3(OBSL1):c.5656A>G (p.Ser1886Gly)	OBSL1 (S1886G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113098	NM_015311.3(OBSL1):c.5653G>A (p.Asp1885Asn)	OBSL1 (D1885N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994441	NM_015311.3(OBSL1):c.5646C>G (p.Ala1882=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046550	NM_015311.3(OBSL1):c.5644G>A (p.Ala1882Thr)	OBSL1 (A1882T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920178	NM_015311.3(OBSL1):c.5641C>G (p.Gln1881Glu)	OBSL1 (Q1881E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978262	NM_015311.3(OBSL1):c.5612G>A (p.Arg1871Gln)	OBSL1 (R1871Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 897528	NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1331376	NM_015311.3(OBSL1):c.5590dup (p.Ser1864fs)	OBSL1 (S1864fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2759759	NM_015311.3(OBSL1):c.5589C>T (p.His1863=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1471438	NM_015311.3(OBSL1):c.5573G>C (p.Ser1858Thr)	OBSL1 (S1858T)	Single nucleotide variant (missense variant)	not provided	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 2498079	NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)	OBSL1 (K1853fs)	Insertion (frameshift variant)	3M syndrome 2	GLikely pathogenic
Select item 1398832	NM_015311.3(OBSL1):c.5554dup (p.Asp1852fs)	OBSL1 (D1852fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2078770	NM_015311.3(OBSL1):c.5550G>A (p.Pro1850=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 840956	NM_015311.3(OBSL1):c.5515G>T (p.Val1839Leu)	OBSL1 (V1839L)	Single nucleotide variant (missense variant)	not provided	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 1348953	NM_015311.3(OBSL1):c.5512C>T (p.His1838Tyr)	OBSL1 (H1838Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398527	NM_015311.3(OBSL1):c.5510del (p.Gly1837fs)	OBSL1 (G1837fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 897529	NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1926561	NM_015311.3(OBSL1):c.5469C>T (p.Gly1823=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872232	NM_015311.3(OBSL1):c.5457C>T (p.Thr1819=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985660	NM_015311.3(OBSL1):c.5453A>C (p.Lys1818Thr)	OBSL1 (K1818T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408845	NM_015311.3(OBSL1):c.5446C>T (p.Arg1816Cys)	OBSL1 (R1816C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018573	NM_015311.3(OBSL1):c.5441C>T (p.Pro1814Leu)	OBSL1 (P1814L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908615	NM_015311.3(OBSL1):c.5414-8A>C	OBSL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 746411	NM_015311.3(OBSL1):c.5414-10C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013994	NM_015311.3(OBSL1):c.5414-15G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274171	NM_015311.3(OBSL1):c.5414-50G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229527	NM_015311.3(OBSL1):c.5414-71G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261356	NM_015311.3(OBSL1):c.5413+31T>A	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 1636425	NM_015311.3(OBSL1):c.5413+11G>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011812	NM_015311.3(OBSL1):c.5412G>C (p.Glu1804Asp)	OBSL1 (E1804D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416365	NM_015311.3(OBSL1):c.5404G>C (p.Glu1802Gln)	OBSL1 (E1802Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611532	NM_015311.3(OBSL1):c.5400A>G (p.Leu1800=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 334461	NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2	GUncertain significance
Select item 194973	NM_015311.3(OBSL1):c.5400del (p.Leu1801fs)	OBSL1 (L1801fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1343668	NM_015311.3(OBSL1):c.5388G>C (p.Gln1796His)	OBSL1 (Q1796H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2899485	NM_015311.3(OBSL1):c.5385C>G (p.Ala1795=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124766	NM_015311.3(OBSL1):c.5355C>T (p.Ala1785=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469560	NM_015311.3(OBSL1):c.5341C>T (p.Arg1781Cys)	OBSL1 (R1781C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966420	NM_015311.3(OBSL1):c.5325G>C (p.Leu1775=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 194972	NM_015311.3(OBSL1):c.5309-4C>G	OBSL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3012255	NM_015311.3(OBSL1):c.5309-11C>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899254	NM_015311.3(OBSL1):c.5309-12C>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1266333	NM_015311.3(OBSL1):c.5309-29G>A	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2 +1 more	GBenign
Select item 1269748	NM_015311.3(OBSL1):c.5308+30C>A	LOC129935660, OBSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 897530	NM_015311.3(OBSL1):c.5308+12T>G	LOC129935660, OBSL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2994442	NM_015311.3(OBSL1):c.5308+11C>T	LOC129935660, OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 288014	NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)	OBSL1 (R1767Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1594570	NM_015311.3(OBSL1):c.5292C>G (p.Val1764=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175514	NM_015311.3(OBSL1):c.5281G>A (p.Gly1761Arg)	OBSL1 (G1761R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714168	NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 334462	NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu)	OBSL1 (P1757L)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 1419220	NM_015311.3(OBSL1):c.5254G>A (p.Glu1752Lys)	OBSL1 (E1752K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2914502	NM_015311.3(OBSL1):c.5247G>T (p.Gly1749=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898682	NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg)	OBSL1 (G1749R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 898683	NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met)	OBSL1 (T1748M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 755363	NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 3006265	NM_015311.3(OBSL1):c.5223C>G (p.Thr1741=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660899	NM_015311.3(OBSL1):c.5211G>A (p.Thr1737=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 12