ClinVar for Gene (Select 55231) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3264356	NM_018219.3(CCDC87):c.1067A>C (p.Asp356Ala)	CCDC87 (D356A)	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 3264354	NM_018219.3(CCDC87):c.233A>T (p.Glu78Val)	CCDC87 (E78V)	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 3264351	NM_018219.3(CCDC87):c.920G>A (p.Arg307Gln)	CCDC87 (R307Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3264349	NM_018219.3(CCDC87):c.2474G>A (p.Arg825Gln)	CCDC87 (R825Q)	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 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 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 3139513	NM_018219.3(CCDC87):c.425G>A (p.Arg142Lys)	CCDC87 (R142K)	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 3139511	NM_018219.3(CCDC87):c.244C>T (p.Arg82Cys)	CCDC87 (R82C)	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 3139509	NM_018219.3(CCDC87):c.1834A>G (p.Ile612Val)	CCDC87 (I612V)	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 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 3139505	NM_018219.3(CCDC87):c.1405C>G (p.Leu469Val)	CCDC87 (L469V)	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 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 2641997	NM_018219.3(CCDC87):c.2499G>A (p.Leu833=)	CCDC87	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2621212	NM_018219.3(CCDC87):c.957G>C (p.Trp319Cys)	CCDC87 (W319C)	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 2610880	NM_018219.3(CCDC87):c.22G>A (p.Glu8Lys)	CCDC87 (E8K)	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 2603514	NM_018219.3(CCDC87):c.542C>T (p.Ala181Val)	CCDC87 (A181V)	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 2539034	NM_018219.3(CCDC87):c.472C>T (p.Leu158Phe)	CCDC87 (L158F)	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 2521982	NM_018219.3(CCDC87):c.2306G>A (p.Arg769Gln)	CCDC87 (R769Q)	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 2494480	NM_018219.3(CCDC87):c.1376T>C (p.Ile459Thr)	CCDC87 (I459T)	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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	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 2394871	NM_018219.3(CCDC87):c.1667T>C (p.Leu556Ser)	CCDC87 (L556S)	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 2384118	NM_018219.3(CCDC87):c.1814A>G (p.Glu605Gly)	CCDC87 (E605G)	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 2374286	NM_018219.3(CCDC87):c.704G>A (p.Arg235His)	CCDC87 (R235H)	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 2353851	NM_018219.3(CCDC87):c.706C>G (p.Pro236Ala)	CCDC87 (P236A)	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 2342942	NM_018219.3(CCDC87):c.2249G>A (p.Arg750His)	CCDC87 (R750H)	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 2322615	NM_018219.3(CCDC87):c.728C>A (p.Pro243Gln)	CCDC87 (P243Q)	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 2293332	NM_018219.3(CCDC87):c.2099A>G (p.Asp700Gly)	CCDC87 (D700G)	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 2282843	NM_018219.3(CCDC87):c.287G>A (p.Arg96Gln)	CCDC87 (R96Q)	Single nucleotide variant (missense variant)	not specified	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 2268561	NM_018219.3(CCDC87):c.457C>T (p.Arg153Trp)	CCDC87 (R153W)	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 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 2247666	NM_018219.3(CCDC87):c.1703C>T (p.Ser568Leu)	CCDC87 (S568L)	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 2230648	NM_018219.3(CCDC87):c.1822T>G (p.Phe608Val)	CCDC87 (F608V)	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 2205438	NM_018219.3(CCDC87):c.2471G>A (p.Arg824Gln)	CCDC87 (R824Q)	Single nucleotide variant (missense variant)	not specified	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
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

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Items: 82