1145[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 323942	NM_000080.4(CHRNE):c.*930T>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323943	NM_000080.4(CHRNE):c.*906G>C	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323944	NM_000080.4(CHRNE):c.*903G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323945	NM_000080.4(CHRNE):c.*902C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323946	NM_000080.4(CHRNE):c.*876G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323947	NM_000080.4(CHRNE):c.*875C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323948	NM_000080.4(CHRNE):c.*868G>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323949	NM_000080.4(CHRNE):c.*858G>C	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GLikely benign
Select item 890890	NM_000080.4(CHRNE):c.*855C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 323950	NM_000080.4(CHRNE):c.*852G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323951	NM_000080.4(CHRNE):c.*837A>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323952	NM_000080.4(CHRNE):c.*836C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323953	NM_000080.4(CHRNE):c.*806G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323954	NM_000080.4(CHRNE):c.*805T>G	MINK1, CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323955	NM_000080.4(CHRNE):c.*776AC[3]	MINK1, CHRNE	Microsatellite (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323956	NM_000080.4(CHRNE):c.*750GGAG[1]	CHRNE, MINK1	Microsatellite (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 892125	NM_000080.4(CHRNE):c.*748G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323958	NM_000080.4(CHRNE):c.*745G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323957	NM_000080.4(CHRNE):c.744_745insA	CHRNE, MINK1	Insertion (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323959	NM_000080.4(CHRNE):c.*743T>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323960	NM_000080.4(CHRNE):c.*622C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323961	NM_000080.4(CHRNE):c.*610C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323962	NM_000080.4(CHRNE):c.*597G>A	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323963	NM_000080.4(CHRNE):c.*590C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323964	NM_000080.4(CHRNE):c.*572C>G	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323965	NM_000080.4(CHRNE):c.*556C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323966	NM_000080.4(CHRNE):c.*437G>C	CHRNE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888681	NM_000080.4(CHRNE):c.*388C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323967	NM_000080.4(CHRNE):c.*383G>A	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323968	NM_000080.4(CHRNE):c.*366G>A	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 890388	NM_000080.4(CHRNE):c.*329T>A	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323969	NM_000080.4(CHRNE):c.*315T>G	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 323970	NM_000080.4(CHRNE):c.*267C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323971	NM_000080.4(CHRNE):c.*206G>A	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323972	NM_000080.4(CHRNE):c.*144T>C	CHRNE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323973	NM_000080.4(CHRNE):c.*125C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323974	NM_000080.4(CHRNE):c.*65C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4B +4 more	GBenign
Select item 323975	NM_000080.4(CHRNE):c.*61C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4B +4 more	GBenign
Select item 2419262	NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?)	CHRNE	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 372873	NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)	CHRNE	Indel (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 254885	NM_000080.4(CHRNE):c.*43T>C	CHRNE	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 890945	NM_000080.4(CHRNE):c.*38G>A	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 254884	NM_000080.4(CHRNE):c.*37G>A	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +2 more	GBenign/Likely benign
Select item 2440058	NM_000080.4(CHRNE):c.1480_*31del (p.Ter494GlnextTer?)	CHRNE	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 890946	NM_000080.4(CHRNE):c.*24C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 642050	NC_000017.10:g.(?_4802011)_(4850135_?)dup	LOC130060040, LOC130060041 +17 more	Duplication	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 193972	NM_000080.4(CHRNE):c.*6A>G	CHRNE	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 254886	NM_000080.4(CHRNE):c.*5C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 631776	NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln)	CHRNE	Single nucleotide variant (stop lost)	Congenital myasthenic syndrome	GUncertain significance
Select item 2826742	NM_000080.4(CHRNE):c.1479T>G (p.Pro493=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2715569	NM_000080.4(CHRNE):c.1473C>T (p.Ile491=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 949973	NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val)	CHRNE (I491V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1601847	NM_000080.4(CHRNE):c.1467G>A (p.Pro489=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1129734	NM_000080.4(CHRNE):c.1467G>T (p.Pro489=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1343761	NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu)	CHRNE (P489L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2731367	NM_000080.4(CHRNE):c.1463C>T (p.Ala488Val)	CHRNE (A488V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1157189	NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr)	CHRNE (A488T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1709193	NM_000080.4(CHRNE):c.1461C>A (p.Tyr487Ter)	CHRNE (Y487*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 764199	NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1122651	NM_000080.4(CHRNE):c.1458C>T (p.Pro486=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 918072	NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu)	CHRNE (P486L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 1145354	NM_000080.4(CHRNE):c.1455C>T (p.Leu485=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 426568	NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe)	CHRNE (L485F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1939946	NM_000080.4(CHRNE):c.1450G>C (p.Asp484His)	CHRNE (D484H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 323976	NM_000080.4(CHRNE):c.1446G>A (p.Val482=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
Select item 1569646	NM_000080.4(CHRNE):c.1443A>C (p.Arg481=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2235658	NM_000080.4(CHRNE):c.1442G>T (p.Arg481Leu)	CHRNE (R481L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2159155	NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly)	CHRNE (R481G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 647618	NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter)	CHRNE (R481*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 3144678	NM_000080.4(CHRNE):c.1439A>C (p.Asn480Thr)	CHRNE (N480T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1416009	NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser)	CHRNE (N480S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1562100	NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 620130	NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter)	CHRNE (Y478*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
Select item 797979	NM_000080.4(CHRNE):c.1431C>T (p.Ala477=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1322081	NM_000080.4(CHRNE):c.1429del (p.Ala477fs)	CHRNE (A477fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4B +3 more	GPathogenic/Likely pathogenic
Select item 2765245	NM_000080.4(CHRNE):c.1428G>T (p.Gly476=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 254893	NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)	CHRNE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 970439	NM_000080.4(CHRNE):c.1424T>A (p.Leu475His)	CHRNE (L475H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2880075	NM_000080.4(CHRNE):c.1419C>T (p.Ile473=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 733464	NM_000080.4(CHRNE):c.1419C>A (p.Ile473=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 421400	NM_000080.4(CHRNE):c.1419C>G (p.Ile473Met)	CHRNE (I473M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254892	NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 749052	NM_000080.4(CHRNE):c.1413C>T (p.Ser471=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1614187	NM_000080.4(CHRNE):c.1410C>T (p.Ser470=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 706255	NM_000080.4(CHRNE):c.1407C>T (p.Gly469=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2440063	NM_000080.4(CHRNE):c.1406G>C (p.Gly469Ala)	CHRNE (G469A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520917	NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val)	CHRNE (G469V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance

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