5818[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 2364761	NM_203285.2(NECTIN1):c.1354G>A (p.Glu452Lys)	NECTIN1 (E452K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714518	NC_000011.10:g.119638122G>A	NECTIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3047032	NM_203285.2(NECTIN1):c.1227G>A (p.Gln409=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder	GLikely benign
Select item 776667	NM_002855.4(NECTIN1):c.*25972C>T	NECTIN1 (P395S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2696692	NC_000011.10:g.119638779C>T	NECTIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786602	NM_002855.4(NECTIN1):c.*25967C>T	NECTIN1 (P393L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 802808	NC_000011.10:g.119639934A>C	NECTIN1 (V361G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3045303	NM_203285.2(NECTIN1):c.1053G>C (p.Ala351=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder	GLikely benign
Select item 3367425	NM_203285.2(NECTIN1):c.1038_1039del (p.Ala347fs)	NECTIN1 (A347fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 877236	NM_002855.5(NECTIN1):c.*3714A>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877237	NM_002855.5(NECTIN1):c.*3705G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 877238	NM_002855.5(NECTIN1):c.*3647G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877239	NM_002855.5(NECTIN1):c.*3636G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877240	NM_002855.5(NECTIN1):c.*3634T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878277	NM_002855.5(NECTIN1):c.*3629C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878278	NM_002855.5(NECTIN1):c.*3567G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878279	NM_002855.5(NECTIN1):c.*3545C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878280	NM_002855.5(NECTIN1):c.*3488C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878281	NM_002855.5(NECTIN1):c.*3440G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878282	NM_002855.5(NECTIN1):c.*3426C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878283	NM_002855.5(NECTIN1):c.*3425G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878284	NM_002855.5(NECTIN1):c.*3405A>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878874	NM_002855.5(NECTIN1):c.*3365G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878875	NM_002855.5(NECTIN1):c.*3351G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878876	NM_002855.5(NECTIN1):c.*3301T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GBenign
Select item 878877	NM_002855.5(NECTIN1):c.*3294G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878878	NM_002855.5(NECTIN1):c.*3194C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878879	NM_002855.5(NECTIN1):c.*3185C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878880	NM_002855.5(NECTIN1):c.*3174C>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878881	NM_002855.5(NECTIN1):c.*3173G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 880096	NM_002855.5(NECTIN1):c.*3136G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880097	NM_002855.5(NECTIN1):c.*3087C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880098	NM_002855.5(NECTIN1):c.*3032T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880099	NM_002855.5(NECTIN1):c.*3013G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 880100	NM_002855.5(NECTIN1):c.*2969A>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880101	NM_002855.5(NECTIN1):c.*2902A>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880102	NM_002855.5(NECTIN1):c.*2884G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 880103	NM_002855.5(NECTIN1):c.*2882G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877297	NM_002855.5(NECTIN1):c.*2857A>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GBenign
Select item 877298	NM_002855.5(NECTIN1):c.*2852T>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877299	NM_002855.5(NECTIN1):c.*2847C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877300	NM_002855.5(NECTIN1):c.*2751G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877301	NM_002855.5(NECTIN1):c.*2750C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877302	NM_002855.5(NECTIN1):c.*2733T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877303	NM_002855.5(NECTIN1):c.*2702T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 877304	NM_002855.5(NECTIN1):c.*2692C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878332	NM_002855.5(NECTIN1):c.*2551T>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878333	NM_002855.5(NECTIN1):c.*2509G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878334	NM_002855.5(NECTIN1):c.*2481A>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 878335	NM_002855.5(NECTIN1):c.*2439G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878336	NM_002855.5(NECTIN1):c.*2416A>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878337	NM_002855.5(NECTIN1):c.*2413A>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878338	NM_002855.5(NECTIN1):c.*2398G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878339	NM_002855.5(NECTIN1):c.*2397A>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878917	NM_002855.5(NECTIN1):c.*2374C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878918	NM_002855.5(NECTIN1):c.*2355C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878919	NM_002855.5(NECTIN1):c.*2103C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 878920	NM_002855.5(NECTIN1):c.*1760C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878921	NM_002855.5(NECTIN1):c.*1666C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878922	NM_002855.5(NECTIN1):c.*1654C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878923	NM_002855.5(NECTIN1):c.*1610G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 878924	NM_002855.5(NECTIN1):c.*1595C>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 880138	NM_002855.5(NECTIN1):c.*1555C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880139	NM_002855.5(NECTIN1):c.*1554G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880140	NM_002855.5(NECTIN1):c.*1422G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880141	NM_002855.5(NECTIN1):c.*1391C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GLikely benign
Select item 880142	NM_002855.5(NECTIN1):c.*1382T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880143	NM_002855.5(NECTIN1):c.*1368G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880144	NM_002855.5(NECTIN1):c.*1337T>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 880145	NM_002855.5(NECTIN1):c.*1330G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877350	NM_002855.5(NECTIN1):c.*1266C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877351	NM_002855.5(NECTIN1):c.*1241T>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877352	NM_002855.5(NECTIN1):c.*1184G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877353	NM_002855.5(NECTIN1):c.*1179C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 877354	NM_002855.5(NECTIN1):c.*1168C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877355	NM_002855.5(NECTIN1):c.*1139G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 877356	NM_002855.5(NECTIN1):c.*1132G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 877357	NM_002855.5(NECTIN1):c.*1129A>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878375	NM_002855.5(NECTIN1):c.*1126C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878376	NM_002855.5(NECTIN1):c.*1120T>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878377	NM_002855.5(NECTIN1):c.*1108G>C	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878378	NM_002855.5(NECTIN1):c.*1087G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878379	NM_002855.5(NECTIN1):c.*961G>A	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 878380	NM_002855.5(NECTIN1):c.*917G>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878381	NM_002855.5(NECTIN1):c.*886C>T	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878382	NM_002855.5(NECTIN1):c.*883T>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance
Select item 878964	NM_002855.5(NECTIN1):c.*853C>G	NECTIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Cleft lip/palate-ectodermal dysplasia syndrome	GUncertain significance

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