ClinVar for Gene (Select 23705) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262910	NM_001301043.2(CADM1):c.1411A>C (p.Ile471Leu)	CADM1 (I443L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262909	NM_001301043.2(CADM1):c.1225G>A (p.Val409Ile)	CADM1 (V409I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262908	NM_001301043.2(CADM1):c.211G>A (p.Asp71Asn)	CADM1 (D71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250524	NM_001301043.2(CADM1):c.1211C>T (p.Ala404Val)	CADM1 (A347V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136578	NM_001301043.2(CADM1):c.434G>A (p.Arg145His)	CADM1 (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136577	NM_001301043.2(CADM1):c.11T>A (p.Val4Glu)	CADM1 (V4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136576	NM_001301043.2(CADM1):c.1260G>C (p.Leu420Phe)	CADM1 (L402F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921126	NM_001301043.2(CADM1):c.323A>C (p.Lys108Thr)	CADM1 (K108T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684656	GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3	APOA1, APOA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642395	NM_001301043.2(CADM1):c.750T>G (p.Thr250=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642394	NM_001301043.2(CADM1):c.771C>T (p.Thr257=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642393	NM_001301043.2(CADM1):c.1023AAC[1] (p.Thr353del)	CADM1, LOC126861346 (T353del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2523342	NM_001301043.2(CADM1):c.346A>C (p.Ile116Leu)	CADM1 (I116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521321	NM_001301043.2(CADM1):c.100T>G (p.Ser34Ala)	CADM1 (S34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487075	NM_001301043.2(CADM1):c.871G>A (p.Ala291Thr)	CADM1 (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480052	NM_001301043.2(CADM1):c.122C>G (p.Thr41Arg)	CADM1 (T41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326015	NM_001301043.2(CADM1):c.117C>G (p.Ile39Met)	CADM1 (I39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302118	NM_001301043.2(CADM1):c.529A>C (p.Ile177Leu)	CADM1 (I177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291935	NM_001301043.2(CADM1):c.784G>A (p.Ala262Thr)	CADM1 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264800	NM_001301043.2(CADM1):c.544G>C (p.Gly182Arg)	CADM1 (G182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263298	NM_001301043.2(CADM1):c.208G>C (p.Asp70His)	CADM1 (D70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230606	NM_001301043.2(CADM1):c.467C>T (p.Ala156Val)	CADM1 (A156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206802	NM_001301043.2(CADM1):c.898A>T (p.Ile300Phe)	CADM1 (I300F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809228	GRCh37/hg19 11q23.3(chr11:115016471-115222588)x3	CADM1	Copy number gain	not provided	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 782217	NM_001301043.2(CADM1):c.1007C>T (p.Thr336Ile)	CADM1, LOC126861346 (T336I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 779315	NM_001301043.2(CADM1):c.678G>A (p.Ala226=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776661	NM_001301043.2(CADM1):c.563-4C>T	CADM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776660	NM_001301043.2(CADM1):c.722-6A>C	CADM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776659	NM_001301043.2(CADM1):c.1028CCA[12] (p.Thr353dup)	CADM1, LOC126861346	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 770982	NM_001301043.2(CADM1):c.786G>A (p.Ala262=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761544	NM_001301043.2(CADM1):c.995-5T>C	CADM1, LOC126861346	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745104	NM_001301043.2(CADM1):c.1227C>G (p.Val409=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740555	NM_001301043.2(CADM1):c.810C>A (p.Ile270=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733505	NM_001301043.2(CADM1):c.1028CCA[8] (p.Thr351_Thr353del)	CADM1, LOC126861346	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 727360	NM_001301043.2(CADM1):c.1275G>A (p.Gly425=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719362	NM_001301043.2(CADM1):c.921T>C (p.Asp307=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718089	NM_001301043.2(CADM1):c.903T>C (p.Asn301=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710449	NM_001301043.2(CADM1):c.12A>G (p.Val4=)	CADM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563804	GRCh37/hg19 11q23.3(chr11:115187860-115238060)x1	CADM1	Copy number loss	not provided	GUncertain significance
Select item 441958	GRCh37/hg19 11q23.3(chr11:115101293-115320089)x1	CADM1	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic
Select item 150473	GRCh38/hg38 11q23.3(chr11:115159099-115463477)x3	CADM1, CADM1-AS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 147770	GRCh38/hg38 11q23.3(chr11:115463428-115770089)x3	CADM1, LINC00900 +5 more	Copy number gain	See cases	GUncertain significance
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58188	GRCh38/hg38 11q23.3(chr11:115159099-116045030)x3	CADM1, CADM1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 59