CCDC115[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 144835	GRCh38/hg38 2q21.1(chr2:130029216-130465575)x3	CCDC115, CCDC74B +23 more	Copy number gain	See cases	GBenign
Select item 144823	GRCh38/hg38 2q21.1(chr2:130029216-130414455)x3	CCDC115, CCDC74B +22 more	Copy number gain	See cases	GBenign
Select item 153715	GRCh38/hg38 2q21.1(chr2:130059752-130427257)x1	CCDC115, CCDC74B +22 more	Copy number loss	See cases	GUncertain significance
Select item 144836	GRCh38/hg38 2q21.1(chr2:130077004-130465575)x3	CCDC115, CCDC74B +23 more	Copy number gain	See cases	GBenign
Select item 2579260	GRCh38/hg38 2q21.1(chr2:130099219-130374931)x1	CCDC115, CCDC74B +19 more	Copy number loss	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 153676	GRCh38/hg38 2q21.1(chr2:130146886-130388116)x1	CCDC115, IMP4 +16 more	Copy number loss	See cases	GUncertain significance
Select item 1262346	NM_032357.4(CCDC115):c.*330C>T	CCDC115	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1649576	NM_032357.4(CCDC115):c.539C>T (p.Ala180Val)	CCDC115 (A172V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2068280	NM_032357.4(CCDC115):c.522G>T (p.Gln174His)	CCDC115 (Q169H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 785008	NM_032357.4(CCDC115):c.519G>A (p.Lys173=)	CCDC115	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1315216	NM_032357.4(CCDC115):c.484C>T (p.Arg162Ter)	CCDC115 (R154* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2439785	NM_032357.4(CCDC115):c.469C>T (p.Arg157Cys)	CCDC115 (R149C +2 more)	Single nucleotide variant (missense variant +1 more)	CCDC115-CDG	GUncertain significance
Select item 2322841	NM_032357.4(CCDC115):c.454G>A (p.Ala152Thr)	CCDC115 (A152T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386375	NM_032357.4(CCDC115):c.451A>G (p.Ile151Val)	CCDC115 (I143V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 791468	NM_032357.4(CCDC115):c.444C>T (p.Ala148=)	CCDC115	Single nucleotide variant (synonymous variant +1 more)	CCDC115-related disorder +1 more	GBenign/Likely benign
Select item 1435590	NM_032357.4(CCDC115):c.440T>C (p.Leu147Pro)	CCDC115 (L142P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2995485	NM_032357.4(CCDC115):c.430+11C>T	CCDC115	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2158172	NM_032357.4(CCDC115):c.406C>G (p.Gln136Glu)	CCDC115 (Q128E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3138271	NM_032357.4(CCDC115):c.404G>A (p.Arg135His)	CCDC115 (R127H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 794114	NM_032357.4(CCDC115):c.363C>T (p.Asp121=)	CCDC115	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1570644	NM_032357.4(CCDC115):c.339G>A (p.Pro113=)	CCDC115	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3138270	NM_032357.4(CCDC115):c.310C>T (p.Arg104Cys)	CCDC115 (R104C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805385	NM_032357.4(CCDC115):c.305G>A (p.Arg102Gln)	CCDC115 (R102Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1393799	NM_032357.4(CCDC115):c.304C>T (p.Arg102Trp)	CCDC115 (R102W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1639638	NM_032357.4(CCDC115):c.298+16del	CCDC115	Deletion (intron variant)	not provided	GLikely benign
Select item 1953265	NM_032357.4(CCDC115):c.243del (p.Phe81fs)	CCDC115 (F73fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1559277	NM_032357.4(CCDC115):c.216-9G>A	CCDC115	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1242374	NM_032357.4(CCDC115):c.215+32C>G	CCDC115	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1361523	NM_032357.4(CCDC115):c.215+3G>C	CCDC115	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1503251	NM_032357.4(CCDC115):c.214A>C (p.Ser72Arg)	CCDC115 (S67R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3138269	NM_032357.4(CCDC115):c.211G>A (p.Ala71Thr)	CCDC115 (A63T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2458745	NM_032357.4(CCDC115):c.190G>C (p.Glu64Gln)	CCDC115 (E56Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2073646	NM_032357.4(CCDC115):c.146T>A (p.Met49Lys)	CCDC115 (M41K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1305776	NM_032357.4(CCDC115):c.124_141delinsA (p.Leu42fs)	CCDC115 (L34fs +2 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2542347	NM_032357.4(CCDC115):c.136C>G (p.Arg46Gly)	CCDC115 (R46G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272886	NM_032357.4(CCDC115):c.136C>T (p.Arg46Cys)	CCDC115 (R38C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287702	NM_032357.4(CCDC115):c.133G>A (p.Ala45Thr)	CCDC115 (A40T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2044095	NM_032357.4(CCDC115):c.112-17C>T	CCDC115	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062224	NM_032357.4(CCDC115):c.93G>C (p.Leu31Phe)	CCDC115 (L31F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 218967	NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser)	CCDC115 (L31S)	Single nucleotide variant (missense variant +2 more)	CCDC115-CDG +1 more	GPathogenic
Select item 740434	NM_032357.4(CCDC115):c.60C>T (p.Asp20=)	CCDC115	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3138272	NM_032357.4(CCDC115):c.52C>T (p.Leu18Phe)	CCDC115 (L18F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2711922	NM_032357.4(CCDC115):c.51G>A (p.Leu17=)	CCDC115	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2062214	NM_032357.4(CCDC115):c.49C>T (p.Leu17=)	CCDC115	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 741032	NM_032357.4(CCDC115):c.39G>T (p.Leu13=)	CCDC115, LOC129934769	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1965301	NM_032357.4(CCDC115):c.36G>C (p.Ser12=)	CCDC115, LOC129934769	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 218963	NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)	CCDC115, LOC129934769 (D11Y)	Single nucleotide variant (missense variant +2 more)	Congenital disorders of glycosylation type II +1 more	GPathogenic
Select item 2264956	NM_032357.4(CCDC115):c.25G>A (p.Glu9Lys)	CCDC115, LOC129934769 (E9K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 445648	NM_032357.4(CCDC115):c.1A>G (p.Met1Val)	CCDC115, LOC129934769 (M1V)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 1195441	NM_033416.2(IMP4):c.-334C>T	CCDC115, LOC129934769	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1248625	NM_033416.2(IMP4):c.-302G>A	CCDC115	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1234776	NC_000002.12:g.130342715A>G	CCDC115	Single nucleotide variant	not provided	GBenign
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3024615	GRCh37/hg19 2q21.1(chr2:130817091-131143296)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1460303	NC_000002.11:g.(?_131096693)_(131099698_?)del	CCDC115	Deletion	not provided	GPathogenic
Select item 1401845	NC_000002.11:g.(?_131096693)_(131099698_?)dup	CCDC115	Duplication	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1074572	NC_000002.11:g.(?_131098481)_(131104041_?)del	CCDC115, IMP4	Deletion	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 689342	GRCh37/hg19 2q21.1(chr2:130825667-131215515)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 688660	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 688128	GRCh37/hg19 2q21.1(chr2:130795738-131157859)x1	CCDC115, CCDC74B +6 more	Copy number loss	not provided	GUncertain significance
Select item 687795	GRCh37/hg19 2q21.1(chr2:131041190-131159016)x3	CCDC115, IMP4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686988	GRCh37/hg19 2q21.1(chr2:130817325-131238042)x3	CCDC115, CCDC74B +7 more	Copy number gain	not provided	GUncertain significance
Select item 686688	GRCh37/hg19 2q21.1(chr2:130868379-131157859)x3	IMP4, MZT2B +6 more	Copy number gain	not provided	GUncertain significance
Select item 686507	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 686134	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685386	GRCh37/hg19 2q21.1(chr2:130916858-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685028	GRCh37/hg19 2q21.1(chr2:130906186-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 684998	GRCh37/hg19 2q21.1(chr2:130817346-131157859)x1	CCDC115, CCDC74B +6 more	Copy number loss	not provided	GUncertain significance
Select item 684907	GRCh37/hg19 2q21.1(chr2:130904459-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562617	GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1	TUBA3E, PTPN18 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 562516	GRCh37/hg19 2q21.1(chr2:131029777-131145689)x1	CCDC115, IMP4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
Select item 443063	GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3	CCDC115, CCDC74B +11 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442675	GRCh37/hg19 2q21.1(chr2:130904460-131145689)x1	CCDC115, IMP4 +4 more	Copy number loss	See cases	GUncertain significance
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 395306	GRCh37/hg19 2q21.1(chr2:130877782-131132074)x3	PTPN18, TUBA3E +6 more	Copy number gain	See cases	GBenign
Select item 264675	NC_000002.11:g.(130939272_131096872)_(131116671_?)del	SMPD4, CCDC115 +4 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 221791	GRCh37/hg19 2q21.1(chr2:130982377-131096727)x3	CCDC115	Copy number gain	Premature ovarian failure	GBenign

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Items: 92