CCDC142[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 2229883	NM_001365575.2(CCDC142):c.2225C>G (p.Ser742Cys)	CCDC142 (S735C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547290	NM_001365575.2(CCDC142):c.2216C>T (p.Pro739Leu)	CCDC142 (P732L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138444	NM_001365575.2(CCDC142):c.2198G>A (p.Arg733Gln)	CCDC142 (R726Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377436	NM_001365575.2(CCDC142):c.2141C>T (p.Pro714Leu)	CCDC142 (P707L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296564	NM_001365575.2(CCDC142):c.2089C>G (p.Pro697Ala)	CCDC142 (P697A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541246	NM_001365575.2(CCDC142):c.2087C>A (p.Ser696Tyr)	CCDC142 (S689Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538557	NM_001365575.2(CCDC142):c.2084C>T (p.Thr695Ile)	CCDC142 (T695I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263898	NM_001365575.2(CCDC142):c.2047A>C (p.Ser683Arg)	CCDC142 (S676R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568726	NM_001365575.2(CCDC142):c.2003G>A (p.Cys668Tyr)	CCDC142 (C661Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291631	NM_001365575.2(CCDC142):c.1954C>A (p.Pro652Thr)	CCDC142 (P652T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138441	NM_001365575.2(CCDC142):c.1947G>C (p.Leu649Phe)	CCDC142 (L642F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323421	NM_001365575.2(CCDC142):c.1901T>C (p.Met634Thr)	CCDC142 (M627T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511952	NM_001365575.2(CCDC142):c.1886G>A (p.Arg629His)	CCDC142 (R622H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138440	NM_001365575.2(CCDC142):c.1808C>T (p.Ala603Val)	CCDC142 (A596V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138439	NM_001365575.2(CCDC142):c.1808C>G (p.Ala603Gly)	CCDC142 (A596G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361389	NM_001365575.2(CCDC142):c.1790G>A (p.Arg597Gln)	CCDC142 (R597Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263896	NM_001365575.2(CCDC142):c.1789C>T (p.Arg597Trp)	CCDC142 (R590W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238971	NM_001365575.2(CCDC142):c.1762C>G (p.Leu588Val)	CCDC142 (L581V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263892	NM_001365575.2(CCDC142):c.1750G>A (p.Val584Met)	CCDC142 (V584M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138438	NM_001365575.2(CCDC142):c.1690T>A (p.Leu564Met)	CCDC142 (L557M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476695	NM_001365575.2(CCDC142):c.1648G>A (p.Gly550Ser)	CCDC142 (G543S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138437	NM_001365575.2(CCDC142):c.1592G>A (p.Arg531Gln)	CCDC142 (R531Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367559	NM_001365575.2(CCDC142):c.1567T>C (p.Phe523Leu)	CCDC142 (F516L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331596	NM_001365575.2(CCDC142):c.1558A>T (p.Met520Leu)	CCDC142 (M520L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138436	NM_001365575.2(CCDC142):c.1390C>T (p.Pro464Ser)	CCDC142 (P457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258442	NM_001365575.2(CCDC142):c.1379A>G (p.Lys460Arg)	CCDC142 (K453R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463683	NM_001365575.2(CCDC142):c.1348G>A (p.Asp450Asn)	CCDC142 (D443N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138435	NM_001365575.2(CCDC142):c.1255G>A (p.Ala419Thr)	CCDC142 (A419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263897	NM_001365575.2(CCDC142):c.1240A>G (p.Ile414Val)	CCDC142 (I414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138434	NM_001365575.2(CCDC142):c.1237C>G (p.Arg413Gly)	CCDC142 (R413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651074	NM_001365575.2(CCDC142):c.1056A>T (p.Ala352=)	CCDC142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367194	NM_001365575.2(CCDC142):c.980C>T (p.Pro327Leu)	CCDC142 (P327L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606848	NM_001365575.2(CCDC142):c.967C>A (p.Pro323Thr)	CCDC142 (P323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651075	NM_001365575.2(CCDC142):c.955C>T (p.Leu319=)	CCDC142	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388510	NM_001365575.2(CCDC142):c.899C>A (p.Ala300Asp)	CCDC142 (A300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138452	NM_001365575.2(CCDC142):c.886G>A (p.Gly296Arg)	CCDC142 (G296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471847	NM_001365575.2(CCDC142):c.701G>C (p.Arg234Pro)	CCDC142 (R234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224781	NM_001365575.2(CCDC142):c.701G>A (p.Arg234His)	CCDC142 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138449	NM_001365575.2(CCDC142):c.695C>A (p.Thr232Lys)	LOC129934131, CCDC142 (T232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246366	NM_001365575.2(CCDC142):c.692C>G (p.Pro231Arg)	CCDC142, LOC129934131 (P231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465918	NM_001365575.2(CCDC142):c.512T>C (p.Ile171Thr)	CCDC142, LOC129934132 (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394827	NM_001365575.2(CCDC142):c.506G>A (p.Arg169His)	CCDC142, LOC129934132 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531805	NM_001365575.2(CCDC142):c.452G>A (p.Gly151Glu)	CCDC142, LOC129934132 (G151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263895	NM_001365575.2(CCDC142):c.391T>G (p.Ser131Ala)	CCDC142 (S131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263893	NM_001365575.2(CCDC142):c.389C>A (p.Pro130Gln)	CCDC142 (P130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540462	NM_001365575.2(CCDC142):c.379C>A (p.Pro127Thr)	CCDC142 (P127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138448	NM_001365575.2(CCDC142):c.367A>C (p.Lys123Gln)	CCDC142 (K123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138447	NM_001365575.2(CCDC142):c.340C>T (p.His114Tyr)	CCDC142 (H114Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138446	NM_001365575.2(CCDC142):c.331T>G (p.Cys111Gly)	CCDC142 (C111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406723	NM_001365575.2(CCDC142):c.226C>T (p.Arg76Trp)	CCDC142, LOC129934133 (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138443	NM_001365575.2(CCDC142):c.215C>T (p.Ala72Val)	CCDC142, LOC129934133 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138442	NM_001365575.2(CCDC142):c.214G>A (p.Ala72Thr)	CCDC142, LOC129934133 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263894	NM_001365575.2(CCDC142):c.192C>A (p.Ser64Arg)	CCDC142, LOC129934133 (S64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254405	NM_001365575.2(CCDC142):c.110G>C (p.Gly37Ala)	CCDC142, LOC129934133 (G37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138451	NM_001365575.2(CCDC142):c.79G>A (p.Gly27Arg)	LOC129934133, CCDC142 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352331	NM_001365575.2(CCDC142):c.70G>C (p.Gly24Arg)	CCDC142, LOC129934133 (G24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 73