ClinVar for Gene (Select 79080) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264347	NM_024098.4(CCDC86):c.416C>T (p.Ala139Val)	CCDC86, CCDC86-AS1 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264346	NM_024098.4(CCDC86):c.1025G>A (p.Arg342Gln)	CCDC86, CCDC86-AS1 (R342Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264345	NM_024098.4(CCDC86):c.445G>A (p.Ala149Thr)	CCDC86, CCDC86-AS1 (A149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264344	NM_024098.4(CCDC86):c.940C>T (p.Arg314Trp)	CCDC86, CCDC86-AS1 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264343	NM_024098.4(CCDC86):c.464C>T (p.Pro155Leu)	CCDC86, CCDC86-AS1 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139501	NM_024098.4(CCDC86):c.871A>G (p.Lys291Glu)	CCDC86, CCDC86-AS1 (K291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139500	NM_024098.4(CCDC86):c.854G>A (p.Arg285His)	CCDC86, CCDC86-AS1 (R285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139499	NM_024098.4(CCDC86):c.746G>A (p.Arg249His)	CCDC86, CCDC86-AS1 (R249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139498	NM_024098.4(CCDC86):c.583C>T (p.Pro195Ser)	CCDC86, CCDC86-AS1 (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139497	NM_024098.4(CCDC86):c.518A>T (p.Glu173Val)	CCDC86, CCDC86-AS1 (E173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139496	NM_024098.4(CCDC86):c.440C>T (p.Pro147Leu)	CCDC86, CCDC86-AS1 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139495	NM_024098.4(CCDC86):c.280C>G (p.Arg94Gly)	CCDC86, CCDC86-AS1 +1 more (R94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139494	NM_024098.4(CCDC86):c.279G>C (p.Gln93His)	CCDC86, CCDC86-AS1 +1 more (Q93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139493	NM_024098.4(CCDC86):c.265G>A (p.Ala89Thr)	CCDC86, CCDC86-AS1 +1 more (A89T)	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 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 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 2605245	NM_024098.4(CCDC86):c.415G>A (p.Ala139Thr)	CCDC86, CCDC86-AS1 (A139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603553	NM_024098.4(CCDC86):c.148A>T (p.Ser50Cys)	CCDC86, CCDC86-AS1 +1 more (S50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594795	NM_024098.4(CCDC86):c.926G>A (p.Arg309His)	CCDC86, CCDC86-AS1 (R309H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562367	NM_024098.4(CCDC86):c.881G>A (p.Arg294His)	CCDC86, CCDC86-AS1 (R294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543613	NM_024098.4(CCDC86):c.446C>G (p.Ala149Gly)	CCDC86, CCDC86-AS1 (A149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473153	NM_024098.4(CCDC86):c.452A>G (p.Gln151Arg)	CCDC86, CCDC86-AS1 (Q151R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458712	NM_024098.4(CCDC86):c.1016T>C (p.Ile339Thr)	CCDC86, CCDC86-AS1 (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2410089	NM_024098.4(CCDC86):c.1072G>C (p.Ala358Pro)	CCDC86, CCDC86-AS1 (A358P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407778	NM_024098.4(CCDC86):c.902G>A (p.Arg301His)	CCDC86, CCDC86-AS1 (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404772	NM_024098.4(CCDC86):c.47C>T (p.Pro16Leu)	CCDC86, CCDC86-AS1 +1 more (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401107	NM_024098.4(CCDC86):c.545C>T (p.Thr182Ile)	CCDC86, CCDC86-AS1 (T182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395562	NM_024098.4(CCDC86):c.880C>T (p.Arg294Cys)	CCDC86, CCDC86-AS1 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382740	NM_024098.4(CCDC86):c.988C>T (p.Arg330Trp)	CCDC86, CCDC86-AS1 (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370338	NM_024098.4(CCDC86):c.968G>A (p.Arg323Gln)	CCDC86, CCDC86-AS1 (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366094	NM_024098.4(CCDC86):c.89G>T (p.Arg30Leu)	CCDC86, CCDC86-AS1 +1 more (R30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346305	NM_024098.4(CCDC86):c.905G>A (p.Arg302Gln)	CCDC86, CCDC86-AS1 (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315920	NM_024098.4(CCDC86):c.1009C>T (p.Arg337Cys)	CCDC86, CCDC86-AS1 (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304105	NM_024098.4(CCDC86):c.610A>G (p.Thr204Ala)	CCDC86, CCDC86-AS1 (T204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272653	NM_024098.4(CCDC86):c.308C>T (p.Pro103Leu)	CCDC86, CCDC86-AS1 +1 more (P103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266955	NM_024098.4(CCDC86):c.961G>C (p.Val321Leu)	CCDC86, CCDC86-AS1 (V321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218959	NM_024098.4(CCDC86):c.89G>A (p.Arg30Gln)	CCDC86, CCDC86-AS1 +1 more (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	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

ClinVar

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Links from Gene

Items: 47