ClinVar for Gene (Select 1490) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264494	NM_001901.4(CCN2):c.114G>C (p.Glu38Asp)	CCN2, CCN2-AS1 (E38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264493	NM_001901.4(CCN2):c.106C>T (p.Pro36Ser)	CCN2, CCN2-AS1 (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264491	NM_001901.4(CCN2):c.520G>A (p.Val174Met)	CCN2, CCN2-AS1 (V174M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3239505	NM_001901.4(CCN2):c.14G>T (p.Ser5Ile)	CCN2, CCN2-AS1 (S5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3139794	NM_001901.4(CCN2):c.90C>G (p.Ser30Arg)	CCN2, CCN2-AS1 (S30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139793	NM_001901.4(CCN2):c.90C>A (p.Ser30Arg)	CCN2, CCN2-AS1 (S30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139792	NM_001901.4(CCN2):c.904C>G (p.Pro302Ala)	CCN2, CCN2-AS1 (P302A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139791	NM_001901.4(CCN2):c.821C>A (p.Thr274Asn)	CCN2, CCN2-AS1 (T274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139790	NM_001901.4(CCN2):c.765G>T (p.Lys255Asn)	CCN2, CCN2-AS1 (K255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139788	NM_001901.4(CCN2):c.622G>A (p.Ala208Thr)	CCN2, CCN2-AS1 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139787	NM_001901.4(CCN2):c.514C>G (p.Gln172Glu)	CCN2, CCN2-AS1 (Q172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139786	NM_001901.4(CCN2):c.49C>A (p.Leu17Ile)	CCN2, CCN2-AS1 (L17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139785	NM_001901.4(CCN2):c.489G>T (p.Glu163Asp)	CCN2, CCN2-AS1 (E163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139784	NM_001901.4(CCN2):c.415A>G (p.Met139Val)	CCN2, CCN2-AS1 (M139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139783	NM_001901.4(CCN2):c.227C>T (p.Pro76Leu)	CCN2, CCN2-AS1 (P76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139782	NM_001901.4(CCN2):c.212G>A (p.Arg71His)	CCN2, CCN2-AS1 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139781	NM_001901.4(CCN2):c.181G>A (p.Ala61Thr)	CCN2, CCN2-AS1 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139780	NM_001901.4(CCN2):c.15T>A (p.Ser5Arg)	CCN2, CCN2-AS1 (S5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139779	NM_001901.4(CCN2):c.156C>G (p.Asp52Glu)	CCN2, CCN2-AS1 (D52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139778	NM_001901.4(CCN2):c.134C>T (p.Ala45Val)	CCN2, CCN2-AS1 (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139777	NM_001901.4(CCN2):c.124C>G (p.Arg42Gly)	CCN2, CCN2-AS1 (R42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139776	NM_001901.4(CCN2):c.111C>A (p.Asp37Glu)	CCN2, CCN2-AS1 (D37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139775	NM_001901.4(CCN2):c.100C>G (p.Arg34Gly)	CCN2, CCN2-AS1 (R34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2533898	NM_001901.4(CCN2):c.61A>C (p.Ser21Arg)	CCN2, CCN2-AS1 (S21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528680	NM_001901.4(CCN2):c.697C>A (p.Gln233Lys)	CCN2, CCN2-AS1 (Q233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522391	NM_001901.4(CCN2):c.998A>G (p.Asn333Ser)	CCN2, CCN2-AS1 (N333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483065	NM_001901.4(CCN2):c.884C>T (p.Pro295Leu)	CCN2, CCN2-AS1 (P295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478429	NM_001901.4(CCN2):c.112G>C (p.Glu38Gln)	CCN2, CCN2-AS1 (E38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454265	NM_001901.4(CCN2):c.932A>G (p.Glu311Gly)	CCN2, CCN2-AS1 (E311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1699970	NC_000006.12:g.131688637_132215008del	CCN2, CCN2-AS1 +14 more	Deletion	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1341089	GRCh37/hg19 6q23.2(chr6:131958038-132444269)x3	CCN2, CTAGE9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 782480	NM_001901.4(CCN2):c.67-4G>A	CCN2, CCN2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770730	NM_001901.4(CCN2):c.290-6C>T	CCN2, CCN2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 756064	NM_001901.4(CCN2):c.690A>T (p.Leu230=)	CCN2, CCN2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741982	NM_001901.4(CCN2):c.304C>T (p.Pro102Ser)	CCN2, CCN2-AS1 (P102S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 733256	NM_001901.4(CCN2):c.915C>T (p.Phe305=)	CCN2, CCN2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727929	NM_001901.4(CCN2):c.645G>A (p.Met215Ile)	CCN2, CCN2-AS1 (M215I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687760	GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1	ENPP1, ENPP3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 687376	GRCh37/hg19 6q23.2(chr6:131958069-132444234)x3	CCN2, CTAGE9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

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Variation size

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Links from Gene

Items: 56