10730[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 1259033	NM_014263.4(YME1L1):c.*45C>T	YME1L1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 2103883	NM_014263.4(YME1L1):c.2138T>C (p.Leu713Ser)	YME1L1 (L770S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788795	NM_014263.4(YME1L1):c.2067C>T (p.Leu689=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031258	NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg)	YME1L1 (K687R +2 more)	Single nucleotide variant (missense variant)	Optic atrophy 11	GUncertain significance
Select item 1903850	NM_014263.4(YME1L1):c.2046T>C (p.His682=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595029	NM_014263.4(YME1L1):c.2035T>C (p.Leu679=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018263	NM_014263.4(YME1L1):c.2030A>G (p.His677Arg)	YME1L1 (H734R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042987	NM_014263.4(YME1L1):c.2029C>T (p.His677Tyr)	YME1L1 (H734Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506618	NM_014263.4(YME1L1):c.2013A>G (p.Ser671=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1277257	NM_014263.4(YME1L1):c.2008-7G>A	YME1L1	Single nucleotide variant (intron variant)	Optic atrophy 11 +1 more	GBenign
Select item 1926924	NM_014263.4(YME1L1):c.2008-15C>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269537	NM_014263.4(YME1L1):c.2008-37A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263309	NM_014263.4(YME1L1):c.2007+192A>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 752364	NM_014263.4(YME1L1):c.1980C>T (p.Ile660=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071558	NM_014263.4(YME1L1):c.1967C>G (p.Thr656Ser)	YME1L1 (T713S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910518	NM_014263.4(YME1L1):c.1952A>G (p.Lys651Arg)	YME1L1 (K618R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015159	NM_014263.4(YME1L1):c.1944T>A (p.Asp648Glu)	YME1L1 (D615E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175422	NM_014263.4(YME1L1):c.1935C>G (p.Thr645=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786152	NM_014263.4(YME1L1):c.1929T>C (p.Val643=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1934678	NM_014263.4(YME1L1):c.1921-9T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796017	NM_014263.4(YME1L1):c.1921-13C>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981783	NM_014263.4(YME1L1):c.1921-20T>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279586	NM_014263.4(YME1L1):c.1921-99A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257417	NM_014263.4(YME1L1):c.1921-144C>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294956	NM_014263.4(YME1L1):c.1920+62C>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2468730	NM_014263.4(YME1L1):c.1888C>T (p.Arg630Trp)	YME1L1 (R597W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1941458	NM_014263.4(YME1L1):c.1886A>T (p.Lys629Met)	YME1L1 (K596M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839607	NM_014263.4(YME1L1):c.1847-12A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274080	NM_014263.4(YME1L1):c.1847-34T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2594160	NM_014263.4(YME1L1):c.1834C>T (p.His612Tyr)	YME1L1 (H579Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179491	NM_014263.4(YME1L1):c.1830C>T (p.Thr610=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293323	NM_014263.4(YME1L1):c.1810G>A (p.Glu604Lys)	YME1L1 (E604K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2056971	NM_014263.4(YME1L1):c.1725C>G (p.Ser575=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1220690	NM_014263.4(YME1L1):c.1720-36G>C	YME1L1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288990	NM_014263.4(YME1L1):c.1720-57G>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263955	NM_014263.4(YME1L1):c.1720-87dup	YME1L1	Duplication (intron variant)	not provided	GBenign
Select item 2049786	NM_014263.4(YME1L1):c.1711C>G (p.Leu571Val)	YME1L1 (L571V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951666	NM_014263.4(YME1L1):c.1675A>G (p.Ile559Val)	YME1L1 (I526V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785398	NM_014263.4(YME1L1):c.1651T>C (p.Tyr551His)	YME1L1 (Y551H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2278910	NM_014263.4(YME1L1):c.1642A>G (p.Ile548Val)	YME1L1 (I605V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719282	NM_014263.4(YME1L1):c.1593T>C (p.Ile531=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2301397	NM_014263.4(YME1L1):c.1585G>T (p.Val529Leu)	YME1L1 (V496L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279759	NM_014263.4(YME1L1):c.1568-198T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2982054	NM_014263.4(YME1L1):c.1567+12T>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940191	NM_014263.4(YME1L1):c.1567+9C>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954640	NM_014263.4(YME1L1):c.1476T>A (p.Leu492=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011956	NM_014263.4(YME1L1):c.1467G>A (p.Leu489=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050909	NM_014263.4(YME1L1):c.1414G>A (p.Val472Ile)	YME1L1 (V472I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413283	NM_014263.4(YME1L1):c.1412-5A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994774	NM_014263.4(YME1L1):c.1411+19A>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898318	NM_014263.4(YME1L1):c.1411+13_1411+17del	YME1L1	Deletion (intron variant)	not provided	GLikely benign
Select item 2471524	NM_014263.4(YME1L1):c.1383G>T (p.Trp461Cys)	YME1L1 (W428C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2098012	NM_014263.4(YME1L1):c.1309C>T (p.Arg437Cys)	YME1L1 (R437C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221043	NM_014263.4(YME1L1):c.1299-79C>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266453	NM_014263.4(YME1L1):c.1299-156C>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290693	NM_014263.4(YME1L1):c.1298+77G>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2401418	NM_014263.4(YME1L1):c.1286A>G (p.Glu429Gly)	YME1L1 (E429G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2175197	NM_014263.4(YME1L1):c.1236-10dup	YME1L1	Duplication (intron variant)	not provided	GBenign
Select item 1934039	NM_014263.4(YME1L1):c.1236-17T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266124	NM_014263.4(YME1L1):c.1236-109G>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737981	NM_014263.4(YME1L1):c.1155T>C (p.Ser385=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729726	NM_014263.4(YME1L1):c.1115C>T (p.Ala372Val)	YME1L1 (A339V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231641	NM_014263.4(YME1L1):c.1103-168T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1915578	NM_014263.4(YME1L1):c.1102+13G>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919706	NM_014263.4(YME1L1):c.1102+3A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2201319	NM_014263.4(YME1L1):c.1047C>T (p.Ser349=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024226	NM_014263.4(YME1L1):c.1041T>C (p.Ser347=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333714	NM_014263.4(YME1L1):c.1007C>T (p.Ala336Val)	YME1L1 (A336V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2897375	NM_014263.4(YME1L1):c.962T>C (p.Val321Ala)	YME1L1 (V288A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799266	NM_014263.4(YME1L1):c.961G>T (p.Val321Phe)	YME1L1 (V321F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768353	NM_014263.4(YME1L1):c.950-3T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902437	NM_014263.4(YME1L1):c.950-4T>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020692	NM_014263.4(YME1L1):c.950-18G>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290262	NM_014263.4(YME1L1):c.950-41T>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247152	NM_014263.4(YME1L1):c.949+48_949+49del	YME1L1	Deletion (intron variant)	not provided	GBenign
Select item 1937733	NM_014263.4(YME1L1):c.949+19A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747912	NM_014263.4(YME1L1):c.949+16T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956251	NM_014263.4(YME1L1):c.949+11T>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950657	NM_014263.4(YME1L1):c.928C>G (p.Leu310Val)	YME1L1 (L367V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207832	NM_014263.4(YME1L1):c.859G>A (p.Val287Met)	YME1L1 (V287M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 1635227	NM_014263.4(YME1L1):c.859-17A>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230767	NM_014263.4(YME1L1):c.859-191G>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2775830	NM_014263.4(YME1L1):c.858G>A (p.Gly286=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2990870	NM_014263.4(YME1L1):c.847C>T (p.His283Tyr)	YME1L1 (H250Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042906	NM_014263.4(YME1L1):c.805T>A (p.Ser269Thr)	YME1L1 (S269T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963516	NM_014263.4(YME1L1):c.792A>G (p.Thr264=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983039	NM_014263.4(YME1L1):c.785G>A (p.Arg262Gln)	YME1L1 (R319Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583535	NM_014263.4(YME1L1):c.783C>T (p.Phe261=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275943	NM_014263.4(YME1L1):c.776-166del	YME1L1	Deletion (intron variant)	not provided	GBenign
Select item 2185853	NM_014263.4(YME1L1):c.775+7G>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914094	NM_014263.4(YME1L1):c.766T>C (p.Phe256Leu)	YME1L1 (F256L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741823	NM_014263.4(YME1L1):c.754C>T (p.Leu252=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082835	NM_014263.4(YME1L1):c.738C>T (p.Phe246=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740492	NM_014263.4(YME1L1):c.720C>G (p.Leu240=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007001	NM_014263.4(YME1L1):c.717T>G (p.Ile239Met)	YME1L1 (I206M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162225	NM_014263.4(YME1L1):c.704G>A (p.Arg235Gln)	YME1L1 (R202Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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