ClinVar for Gene (Select 3491) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139774	NM_001554.5(CCN1):c.878C>T (p.Pro293Leu)	CCN1 (P293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139773	NM_001554.5(CCN1):c.76T>G (p.Cys26Gly)	CCN1, LOC129930877 (C26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139772	NM_001554.5(CCN1):c.658C>G (p.Leu220Val)	CCN1 (L220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139771	NM_001554.5(CCN1):c.517G>C (p.Glu173Gln)	CCN1 (E173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139770	NM_001554.5(CCN1):c.16G>T (p.Ala6Ser)	CCN1 (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139769	NM_001554.5(CCN1):c.163G>T (p.Val55Phe)	CCN1, LOC129930878 (V55F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062611	GRCh37/hg19 1p22.3(chr1:85513068-86105378)x3	BCL10, C1orf52 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ADGRL4, AK5 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2618958	NM_001554.5(CCN1):c.107C>T (p.Ala36Val)	CCN1, LOC129930877 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610303	NM_001554.5(CCN1):c.754A>G (p.Thr252Ala)	CCN1 (T252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600572	NM_001554.5(CCN1):c.757A>G (p.Asn253Asp)	CCN1 (N253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550439	NM_001554.5(CCN1):c.944G>A (p.Gly315Asp)	CCN1 (G315D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513833	NM_001554.5(CCN1):c.891G>C (p.Arg297Ser)	CCN1 (R297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510513	NM_001554.5(CCN1):c.49C>T (p.His17Tyr)	CCN1 (H17Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475005	NM_001554.5(CCN1):c.946T>G (p.Ser316Ala)	CCN1 (S316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807925	GRCh37/hg19 1p22.3(chr1:85878203-86849716)x1	CCN1, COL24A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1341227	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1283652	NC_000001.11:g.85580500_85580501del	CCN1	Deletion	not provided	GBenign
Select item 1282912	NM_001554.5(CCN1):c.64-124G>A	CCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282583	NC_000001.11:g.85580532_85580555del	CCN1	Deletion	not provided	GBenign
Select item 1278635	NC_000001.11:g.85580498_85580501del	CCN1	Deletion	not provided	GBenign
Select item 1277225	NC_000001.11:g.85580496_85580497insA	CCN1	Insertion	not provided	GBenign
Select item 1268174	NM_001554.5(CCN1):c.-107C>A	CCN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1266256	NC_000001.11:g.85580497_85580498insACA	CCN1	Insertion	not provided	GBenign
Select item 1249611	NC_000001.11:g.85580497_85580498insACACA	CCN1	Insertion	not provided	GBenign
Select item 1237442	NC_000001.11:g.85580532_85580551del	CCN1	Deletion	not provided	GBenign
Select item 1231577	NC_000001.11:g.85580532_85580553del	CCN1	Deletion	not provided	GBenign
Select item 1226512	NC_000001.11:g.85580534CA[1]	CCN1	Microsatellite	not provided	GBenign
Select item 1225587	NC_000001.11:g.85580499C>A	CCN1	Single nucleotide variant	not provided	GBenign
Select item 1225129	NC_000001.11:g.85580497C>A	CCN1	Single nucleotide variant	not provided	GBenign
Select item 1178850	NM_001554.5(CCN1):c.277+50G>C	CCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 712918	NM_001554.5(CCN1):c.947C>G (p.Ser316Cys)	CCN1 (S316C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710837	NM_001554.5(CCN1):c.900C>T (p.Tyr300=)	CCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442811	GRCh37/hg19 1p22.3(chr1:86027015-86606921)x3	CCN1, COL24A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442548	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442121	GRCh37/hg19 1p22.3(chr1:86006704-86727751)x3	CCN1, COL24A1 +2 more	Copy number gain	See cases	GLikely benign
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48