8898[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 306500	NM_016156.6(MTMR2):c.*2406C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306501	NM_016156.6(MTMR2):c.*2357T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 306502	NM_016156.6(MTMR2):c.*2187A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 881638	NM_016156.6(MTMR2):c.*2042G>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306503	NM_016156.6(MTMR2):c.*2038C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306504	NM_016156.6(MTMR2):c.*2014T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GBenign
Select item 306505	NM_016156.6(MTMR2):c.*1952G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306506	NM_016156.6(MTMR2):c.*1934T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GBenign
Select item 306507	NM_016156.6(MTMR2):c.*1888del	MTMR2	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 306508	NM_016156.6(MTMR2):c.*1826C>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306509	NM_016156.6(MTMR2):c.*1822T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306510	NM_016156.6(MTMR2):c.*1684A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 882800	NM_016156.6(MTMR2):c.*1656T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306511	NM_016156.6(MTMR2):c.*1568C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306512	NM_016156.6(MTMR2):c.*1444C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GBenign
Select item 306513	NM_016156.6(MTMR2):c.*1425A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306514	NM_016156.6(MTMR2):c.*1419G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306515	NM_016156.6(MTMR2):c.*1396C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 306516	NM_016156.6(MTMR2):c.1343_1344del	MTMR2	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 883584	NM_016156.6(MTMR2):c.*1339T>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 883585	NM_016156.6(MTMR2):c.*1271A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 883586	NM_016156.6(MTMR2):c.*1249G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306517	NM_016156.6(MTMR2):c.1226_1228del	MTMR2	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 306518	NM_016156.6(MTMR2):c.*1150C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306519	NM_016156.6(MTMR2):c.1100_1103dup	MTMR2	Duplication (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 306520	NM_016156.6(MTMR2):c.*1089C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 306521	NM_016156.6(MTMR2):c.*1066T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GBenign
Select item 881220	NM_016156.6(MTMR2):c.*1036C>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306522	NM_016156.6(MTMR2):c.*987T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GBenign
Select item 306523	NM_016156.6(MTMR2):c.*910T>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306524	NM_016156.6(MTMR2):c.*837G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GLikely benign
Select item 881221	NM_016156.6(MTMR2):c.*825G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881222	NM_016156.6(MTMR2):c.*810C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306525	NM_016156.6(MTMR2):c.*679A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306526	NM_016156.6(MTMR2):c.*660G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306527	NM_016156.6(MTMR2):c.*549G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GBenign
Select item 306528	NM_016156.6(MTMR2):c.*345CT[1]	MTMR2	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 881685	NM_016156.6(MTMR2):c.*335T>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881686	NM_016156.6(MTMR2):c.*239A>T	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 881687	NM_016156.6(MTMR2):c.*212A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GUncertain significance
Select item 306529	NM_016156.6(MTMR2):c.*207A>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306530	NM_016156.6(MTMR2):c.*190G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 1211024	NM_016156.6(MTMR2):c.*163G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 306531	NM_016156.6(MTMR2):c.*133C>G	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 306532	NM_016156.6(MTMR2):c.*85A>C	MTMR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 157539	NM_016156.6(MTMR2):c.*53G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 916794	NM_016156.6(MTMR2):c.*17G>A	MTMR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 702534	NM_016156.6(MTMR2):c.1929A>G (p.Val643=)	MTMR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017920	NM_016156.6(MTMR2):c.1923T>C (p.Thr641=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2982559	NM_016156.6(MTMR2):c.1917C>G (p.Val639=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 543378	NM_016156.6(MTMR2):c.1916del (p.Val639fs)	MTMR2 (V567fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 916796	NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe)	MTMR2 (V567F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 450066	NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile)	MTMR2 (T637I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476872	NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter)	MTMR2 (Q634* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1058820	NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr)	MTMR2 (A561T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1161131	NM_016156.6(MTMR2):c.1896T>G (p.Pro632=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 577174	NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs)	MTMR2 (A629fs +1 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely pathogenic
Select item 1389759	NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser)	MTMR2 (R628S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2139187	NM_016156.6(MTMR2):c.1882A>C (p.Arg628=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1485515	NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys)	MTMR2 (E555K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1479439	NM_016156.6(MTMR2):c.1870_1878dup (p.Ser624_Ser626dup)	MTMR2	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2101436	NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)	MTMR2 (S554T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 961766	NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala)	MTMR2 (T551A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 855464	NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro)	MTMR2 (R621P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 306533	NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)	MTMR2 (R621Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 476871	NM_016156.6(MTMR2):c.1861C>T (p.Arg621Ter)	MTMR2 (R621* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1983556	NM_016156.6(MTMR2):c.1856C>G (p.Ser619Cys)	MTMR2 (S547C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 234375	NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)	MTMR2 (S619P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 958698	NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)	MTMR2 (E545fs +1 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 663506	NM_016156.6(MTMR2):c.1852A>C (p.Ile618Leu)	MTMR2 (I546L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 661465	NM_016156.6(MTMR2):c.1851G>C (p.Glu617Asp)	MTMR2 (E617D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1424725	NM_016156.6(MTMR2):c.1847G>A (p.Arg616Lys)	MTMR2 (R544K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 864368	NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter)	MTMR2 (Q543* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 306534	NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)	MTMR2 (Q615E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1060643	NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala)	MTMR2 (V539A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2841247	NM_016156.6(MTMR2):c.1829_1830dup (p.Val611fs)	MTMR2 (V539fs +1 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1992738	NM_016156.6(MTMR2):c.1830dup (p.Val611fs)	MTMR2 (V539fs +1 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2418465	NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg)	MTMR2 (K537R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1807047	NM_016156.6(MTMR2):c.1811G>A (p.Arg604Gln)	MTMR2 (R532Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656693	NM_016156.6(MTMR2):c.1810C>A (p.Arg604=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 934680	NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)	MTMR2 (R532* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2059662	NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)	MTMR2 (K531E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 306535	NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)	MTMR2 (A602G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign/Likely benign
Select item 2786277	NM_016156.6(MTMR2):c.1776T>C (p.Pro592=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 771675	NM_016156.6(MTMR2):c.1776T>G (p.Pro592=)	MTMR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1001502	NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser)	MTMR2 (P520S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1911046	NM_016156.6(MTMR2):c.1771-17_1771-16del	MTMR2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 683220	NM_016156.6(MTMR2):c.1771-142G>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683218	NM_016156.6(MTMR2):c.1770+129C>T	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683219	NM_016156.6(MTMR2):c.1770+59T>G	MTMR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2780051	NM_016156.6(MTMR2):c.1770+20C>A	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 696107	NM_016156.6(MTMR2):c.1770+9_1770+20del	MTMR2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 418333	NM_016156.6(MTMR2):c.1770+7_1770+19delinsC	MTMR2	Indel (intron variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 2725187	NM_016156.6(MTMR2):c.1770+18T>C	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2049509	NM_016156.6(MTMR2):c.1770+15A>G	MTMR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign

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