CCDC125[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3141604	NM_001799.4(CDK7):c.872A>T (p.Lys291Ile)	CCDC125, CDK7 (K198I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274005	NM_001799.4(CDK7):c.927A>T (p.Arg309Ser)	CCDC125, CDK7 (R252S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319199	NM_001799.4(CDK7):c.970G>C (p.Ala324Pro)	CCDC125, CDK7 (A324P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138317	NM_176816.5(CCDC125):c.1420A>G (p.Ser474Gly)	CCDC125 (S349G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138316	NM_176816.5(CCDC125):c.1376G>T (p.Arg459Leu)	CCDC125 (R334L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2316616	NM_176816.5(CCDC125):c.1289G>A (p.Arg430Gln)	CCDC125 (R305Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307269	NM_176816.5(CCDC125):c.1274G>C (p.Ser425Thr)	CCDC125 (S300T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138315	NM_176816.5(CCDC125):c.1132G>A (p.Gly378Arg)	CCDC125 (G253R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3138313	NM_176816.5(CCDC125):c.1052A>T (p.His351Leu)	CCDC125 (H351L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341681	NM_176816.5(CCDC125):c.1018C>G (p.Gln340Glu)	CCDC125 (Q215E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327203	NM_176816.5(CCDC125):c.1007G>A (p.Arg336Lys)	CCDC125 (R336K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138321	NM_176816.5(CCDC125):c.868T>C (p.Ser290Pro)	CCDC125 (S290P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215989	NM_176816.5(CCDC125):c.821C>T (p.Ala274Val)	CCDC125 (A273V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234183	NM_176816.5(CCDC125):c.814G>C (p.Glu272Gln)	CCDC125 (E271Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262328	NM_176816.5(CCDC125):c.784A>G (p.Lys262Glu)	CCDC125 (K137E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544592	NM_176816.5(CCDC125):c.567T>A (p.Asp189Glu)	CCDC125 (D189E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138319	NM_176816.5(CCDC125):c.516C>G (p.Asn172Lys)	CCDC125 (N172K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138318	NM_176816.5(CCDC125):c.505A>G (p.Met169Val)	CCDC125 (M169V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349004	NM_176816.5(CCDC125):c.490G>A (p.Val164Met)	CCDC125 (V163M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468960	NM_176816.5(CCDC125):c.426G>C (p.Glu142Asp)	CCDC125 (E142D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240651	NM_176816.5(CCDC125):c.365A>T (p.Glu122Val)	CCDC125 (E122V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269199	NM_176816.5(CCDC125):c.259C>T (p.Pro87Ser)	CCDC125 (P87S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365187	NM_176816.5(CCDC125):c.143C>T (p.Ser48Phe)	CCDC125 (S48F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370033	NM_176816.5(CCDC125):c.137A>T (p.His46Leu)	CCDC125 (H46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138314	NM_176816.5(CCDC125):c.112G>A (p.Gly38Arg)	CCDC125 (G38R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138320	NM_176816.5(CCDC125):c.77G>A (p.Gly26Asp)	CCDC125 (G26D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, BDP1 +40 more	Copy number loss	See cases	GPathogenic
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1340095	GRCh37/hg19 5q13.1-13.2(chr5:68203539-68641982)x3	CCDC125, CCNB1 +4 more	Copy number gain	not provided	GLikely benign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, C5orf64 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 42