25579[HGNC] - ClinVar

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

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 2641997	NM_018219.3(CCDC87):c.2499G>A (p.Leu833=)	CCDC87	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276484	NM_018219.3(CCDC87):c.2480G>A (p.Arg827His)	CCDC87 (R827H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264349	NM_018219.3(CCDC87):c.2474G>A (p.Arg825Gln)	CCDC87 (R825Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205438	NM_018219.3(CCDC87):c.2471G>A (p.Arg824Gln)	CCDC87 (R824Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622347	NM_018219.3(CCDC87):c.2453A>G (p.Tyr818Cys)	CCDC87 (Y818C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287158	NM_018219.3(CCDC87):c.2437A>G (p.Lys813Glu)	CCDC87 (K813E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264352	NM_018219.3(CCDC87):c.2329A>C (p.Asn777His)	CCDC87 (N777H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521982	NM_018219.3(CCDC87):c.2306G>A (p.Arg769Gln)	CCDC87 (R769Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342942	NM_018219.3(CCDC87):c.2249G>A (p.Arg750His)	CCDC87 (R750H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139510	NM_018219.3(CCDC87):c.2168G>A (p.Arg723Gln)	CCDC87 (R723Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293332	NM_018219.3(CCDC87):c.2099A>G (p.Asp700Gly)	CCDC87 (D700G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231076	NM_018219.3(CCDC87):c.2095G>A (p.Val699Met)	CCDC87 (V699M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139509	NM_018219.3(CCDC87):c.1834A>G (p.Ile612Val)	CCDC87 (I612V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230648	NM_018219.3(CCDC87):c.1822T>G (p.Phe608Val)	CCDC87 (F608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384118	NM_018219.3(CCDC87):c.1814A>G (p.Glu605Gly)	CCDC87 (E605G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247666	NM_018219.3(CCDC87):c.1703C>T (p.Ser568Leu)	CCDC87 (S568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394871	NM_018219.3(CCDC87):c.1667T>C (p.Leu556Ser)	CCDC87 (L556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264348	NM_018219.3(CCDC87):c.1660A>C (p.Asn554His)	CCDC87 (N554H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264357	NM_018219.3(CCDC87):c.1637T>G (p.Val546Gly)	CCDC87 (V546G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334752	NM_018219.3(CCDC87):c.1621A>G (p.Ile541Val)	CCDC87 (I541V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139508	NM_018219.3(CCDC87):c.1613C>T (p.Pro538Leu)	CCDC87 (P538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486218	NM_018219.3(CCDC87):c.1606A>G (p.Lys536Glu)	CCDC87 (K536E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139507	NM_018219.3(CCDC87):c.1598G>A (p.Arg533His)	CCDC87 (R533H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139506	NM_018219.3(CCDC87):c.1564G>A (p.Asp522Asn)	CCDC87 (D522N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266714	NM_018219.3(CCDC87):c.1418T>C (p.Leu473Pro)	CCDC87 (L473P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259182	NM_018219.3(CCDC87):c.1417C>G (p.Leu473Val)	CCDC87 (L473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139505	NM_018219.3(CCDC87):c.1405C>G (p.Leu469Val)	CCDC87 (L469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494480	NM_018219.3(CCDC87):c.1376T>C (p.Ile459Thr)	CCDC87 (I459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362170	NM_018219.3(CCDC87):c.1339C>T (p.Arg447Trp)	CCDC87 (R447W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354932	NM_018219.3(CCDC87):c.1315G>A (p.Val439Ile)	CCDC87 (V439I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139504	NM_018219.3(CCDC87):c.1264T>G (p.Phe422Val)	CCDC87 (F422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517360	NM_018219.3(CCDC87):c.1252C>T (p.Pro418Ser)	CCDC87 (P418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410065	NM_018219.3(CCDC87):c.1181G>T (p.Arg394Leu)	CCDC87 (R394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376515	NM_018219.3(CCDC87):c.1178A>G (p.His393Arg)	CCDC87 (H393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375109	NM_018219.3(CCDC87):c.1108C>T (p.Arg370Cys)	CCDC87 (R370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264356	NM_018219.3(CCDC87):c.1067A>C (p.Asp356Ala)	CCDC87 (D356A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607888	NM_018219.3(CCDC87):c.1065G>T (p.Glu355Asp)	CCDC87 (E355D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347106	NM_018219.3(CCDC87):c.1037C>T (p.Pro346Leu)	CCDC87 (P346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621212	NM_018219.3(CCDC87):c.957G>C (p.Trp319Cys)	CCDC87 (W319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264351	NM_018219.3(CCDC87):c.920G>A (p.Arg307Gln)	CCDC87 (R307Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139519	NM_018219.3(CCDC87):c.907T>A (p.Cys303Ser)	CCDC87 (C303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139518	NM_018219.3(CCDC87):c.816G>C (p.Lys272Asn)	CCDC87 (K272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139517	NM_018219.3(CCDC87):c.767C>G (p.Pro256Arg)	CCDC87 (P256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322615	NM_018219.3(CCDC87):c.728C>A (p.Pro243Gln)	CCDC87 (P243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353851	NM_018219.3(CCDC87):c.706C>G (p.Pro236Ala)	CCDC87 (P236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374286	NM_018219.3(CCDC87):c.704G>A (p.Arg235His)	CCDC87 (R235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266776	NM_018219.3(CCDC87):c.602C>T (p.Ala201Val)	CCDC87 (A201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222042	NM_018219.3(CCDC87):c.596G>A (p.Cys199Tyr)	CCDC87 (C199Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603514	NM_018219.3(CCDC87):c.542C>T (p.Ala181Val)	CCDC87 (A181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539034	NM_018219.3(CCDC87):c.472C>T (p.Leu158Phe)	CCDC87 (L158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268561	NM_018219.3(CCDC87):c.457C>T (p.Arg153Trp)	CCDC87 (R153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139513	NM_018219.3(CCDC87):c.425G>A (p.Arg142Lys)	CCDC87 (R142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384598	NM_018219.3(CCDC87):c.389G>T (p.Arg130Leu)	CCDC87 (R130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264355	NM_018219.3(CCDC87):c.346C>T (p.Leu116Phe)	CCDC87 (L116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139512	NM_018219.3(CCDC87):c.338G>A (p.Arg113Gln)	CCDC87 (R113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282843	NM_018219.3(CCDC87):c.287G>A (p.Arg96Gln)	CCDC87 (R96Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139511	NM_018219.3(CCDC87):c.244C>T (p.Arg82Cys)	CCDC87 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264354	NM_018219.3(CCDC87):c.233A>T (p.Glu78Val)	CCDC87 (E78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524380	NM_018219.3(CCDC87):c.230C>T (p.Pro77Leu)	CCDC87 (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611722	NM_018219.3(CCDC87):c.214G>A (p.Ala72Thr)	CCDC87 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264350	NM_018219.3(CCDC87):c.146C>T (p.Pro49Leu)	CCDC87 (P49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596865	NM_018219.3(CCDC87):c.104A>C (p.Gln35Pro)	CCDC87 (Q35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139516	NM_018219.3(CCDC87):c.71T>C (p.Leu24Pro)	CCDC87 (L24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139514	NM_018219.3(CCDC87):c.50G>C (p.Arg17Pro)	CCDC87 (R17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610880	NM_018219.3(CCDC87):c.22G>A (p.Glu8Lys)	CCDC87 (E8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314898	NM_018219.3(CCDC87):c.17A>G (p.Lys6Arg)	CCDC87 (K6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	ACTN3, BBS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527645	GRCh37/hg19 11q13.2(chr11:66188172-66402747)	ACTN3, BBS1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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: 82