102[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 1232942	NC_000010.11:g.99329029C>A	CNNM1	Single nucleotide variant	not provided	GBenign
Select item 1255012	NC_000010.11:g.99329172_99329173insA	CNNM1	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 1283861	NC_000010.11:g.99329173C>G	CNNM1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2253286	NM_020348.3(CNNM1):c.7G>A (p.Ala3Thr)	CNNM1 (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268159	NM_020348.3(CNNM1):c.37G>A (p.Val13Ile)	CNNM1 (V13I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268166	NM_020348.3(CNNM1):c.47G>A (p.Arg16Gln)	CNNM1 (R16Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306913	NM_020348.3(CNNM1):c.103C>T (p.Pro35Ser)	CNNM1 (P35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268161	NM_020348.3(CNNM1):c.174G>C (p.Glu58Asp)	CNNM1 (E58D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146544	NM_020348.3(CNNM1):c.277A>C (p.Asn93His)	CNNM1 (N93H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478426	NM_020348.3(CNNM1):c.284G>A (p.Gly95Glu)	CNNM1 (G95E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146546	NM_020348.3(CNNM1):c.308C>A (p.Ala103Asp)	CNNM1 (A103D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640745	NM_020348.3(CNNM1):c.309T>C (p.Ala103=)	CNNM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2525513	NM_020348.3(CNNM1):c.352G>A (p.Val118Met)	CNNM1 (V118M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545002	NM_020348.3(CNNM1):c.359C>A (p.Pro120His)	CNNM1 (P120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146547	NM_020348.3(CNNM1):c.494G>C (p.Arg165Pro)	CNNM1 (R165P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222554	NM_020348.3(CNNM1):c.526G>C (p.Gly176Arg)	CNNM1 (G176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591612	NM_020348.3(CNNM1):c.629G>T (p.Arg210Leu)	CNNM1 (R210L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268163	NM_020348.3(CNNM1):c.646G>A (p.Gly216Arg)	CNNM1 (G216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1181501	NM_020348.3(CNNM1):c.666G>A (p.Ala222=)	CNNM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3268167	NM_020348.3(CNNM1):c.686C>A (p.Ala229Glu)	CNNM1 (A229E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268165	NM_020348.3(CNNM1):c.769C>G (p.Leu257Val)	CNNM1 (L257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490180	NM_020348.3(CNNM1):c.811C>A (p.Arg271Ser)	CNNM1 (R271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146548	NM_020348.3(CNNM1):c.834G>C (p.Arg278Ser)	CNNM1 (R278S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268162	NM_020348.3(CNNM1):c.896G>T (p.Gly299Val)	CNNM1 (G299V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268160	NM_020348.3(CNNM1):c.932G>C (p.Gly311Ala)	CNNM1 (G311A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 221303	NM_020348.3(CNNM1):c.957G>C (p.Glu319Asp)	CNNM1 (E319D)	Single nucleotide variant (missense variant +1 more)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2539037	NM_020348.3(CNNM1):c.961A>G (p.Ile321Val)	CNNM1 (I321V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530762	NM_020348.3(CNNM1):c.970C>T (p.Pro324Ser)	CNNM1 (P324S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533612	NM_020348.3(CNNM1):c.1019A>G (p.Glu340Gly)	CNNM1 (E340G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713121	NM_020348.3(CNNM1):c.1102G>A (p.Ala368Thr)	CNNM1 (A368T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2360009	NM_020348.3(CNNM1):c.1178C>T (p.Thr393Met)	CNNM1 (T393M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1297924	NM_020348.3(CNNM1):c.1284T>G (p.Val428=)	CNNM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2350430	NM_020348.3(CNNM1):c.1549A>G (p.Thr517Ala)	CNNM1 (T517A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 3146535	NM_020348.3(CNNM1):c.1613A>C (p.Glu538Ala)	CNNM1 (E538A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1270983	NM_020348.3(CNNM1):c.1717+145G>A	CNNM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3146536	NM_020348.3(CNNM1):c.1750C>T (p.Arg584Trp)	CNNM1 (R584W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495166	NM_020348.3(CNNM1):c.1796C>T (p.Thr599Met)	CNNM1 (T599M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474219	NM_020348.3(CNNM1):c.1808T>G (p.Val603Gly)	CNNM1 (V603G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1268829	NM_020348.3(CNNM1):c.1858+55C>T	CNNM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2479804	NM_020348.3(CNNM1):c.1871T>C (p.Phe624Ser)	CNNM1 (F624S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547730	NM_020348.3(CNNM1):c.1927G>A (p.Val643Met)	CNNM1 (V643M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509439	NM_020348.3(CNNM1):c.1939C>G (p.Leu647Val)	CNNM1 (L647V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146537	NM_020348.3(CNNM1):c.1990C>T (p.Arg664Cys)	CNNM1 (R664C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268157	NM_020348.3(CNNM1):c.1994A>G (p.Asn665Ser)	CNNM1 (N665S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146538	NM_020348.3(CNNM1):c.2030G>A (p.Gly677Asp)	CNNM1 (G677D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514421	NM_020348.3(CNNM1):c.2044G>A (p.Glu682Lys)	CNNM1 (E682K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146539	NM_020348.3(CNNM1):c.2081C>T (p.Ala694Val)	CNNM1 (A694V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1181039	NM_020348.3(CNNM1):c.2129-112C>A	CNNM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2529593	NM_020348.3(CNNM1):c.2152A>G (p.Ser718Gly)	CNNM1 (S718G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405745	NM_020348.3(CNNM1):c.2183G>A (p.Arg728Gln)	CNNM1 (R728Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517937	NM_020348.3(CNNM1):c.2212C>T (p.Arg738Cys)	CNNM1 (R738C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268158	NM_020348.3(CNNM1):c.2237G>T (p.Arg746Leu)	CNNM1 (R746L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590492	NM_020348.3(CNNM1):c.2252G>A (p.Gly751Asp)	CNNM1 (G751D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477111	NM_020348.3(CNNM1):c.2293A>C (p.Met765Leu)	CNNM1 (M765L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1283714	NM_020348.3(CNNM1):c.2340+88G>A	CNNM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3268168	NM_020348.3(CNNM1):c.2348G>A (p.Arg783Gln)	CNNM1 (R783Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146540	NM_020348.3(CNNM1):c.2404C>T (p.Pro802Ser)	CNNM1 (P823S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146541	NM_020348.3(CNNM1):c.2411T>C (p.Met804Thr)	CNNM1 (M804T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1249927	NM_020348.3(CNNM1):c.2456G>A (p.Arg819Gln)	CNNM1 (R819Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2275759	NM_020348.3(CNNM1):c.2459G>A (p.Gly820Asp)	CNNM1 (G820D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1224300	NM_020348.3(CNNM1):c.2484C>T (p.Asp828=)	CNNM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2410302	NM_020348.3(CNNM1):c.2495C>T (p.Thr832Met)	CNNM1 (T853M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388724	NM_020348.3(CNNM1):c.2531G>A (p.Arg844His)	CNNM1 (R844H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146542	NM_020348.3(CNNM1):c.2551C>T (p.Pro851Ser)	CNNM1 (P851S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222880	NM_020348.3(CNNM1):c.2552C>T (p.Pro851Leu)	CNNM1 (P872L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146543	NM_020348.3(CNNM1):c.2617G>A (p.Glu873Lys)	CNNM1 (E873K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568226	NM_020348.3(CNNM1):c.2650C>T (p.Pro884Ser)	CNNM1 (P884S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362880	NM_020348.3(CNNM1):c.2734G>A (p.Asp912Asn)	CNNM1 (D862N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1244819	NM_020348.3(CNNM1):c.2776+92A>G	CNNM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221518	NM_020348.3(CNNM1):c.2776+183C>A	CNNM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3146545	NM_020348.3(CNNM1):c.2831C>G (p.Ser944Cys)	CNNM1 (S894C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1460184	NC_000010.10:g.(?_100177321)_(101611388_?)del	ABCC2, CNNM1 +8 more	Deletion	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89