CCDC172[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	LOC130004776, LOC130004777 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	DCLRE1A, ABLIM1 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2308337	NM_198515.3(CCDC172):c.22C>G (p.Gln8Glu)	CCDC172 (Q8E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316141	NM_198515.3(CCDC172):c.139G>A (p.Glu47Lys)	CCDC172 (E47K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557235	NM_198515.3(CCDC172):c.161C>T (p.Ser54Phe)	CCDC172 (S54F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559087	NM_198515.3(CCDC172):c.188C>T (p.Ser63Phe)	CCDC172 (S63F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274097	NM_198515.3(CCDC172):c.202C>T (p.Leu68Phe)	CCDC172 (L68F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210218	NM_198515.3(CCDC172):c.239A>G (p.Tyr80Cys)	CCDC172 (Y80C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 917929	NM_198515.3(CCDC172):c.294_297del (p.Lys98fs)	CCDC172 (K98fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome	GUncertain significance
Select item 2493530	NM_198515.3(CCDC172):c.299A>C (p.Gln100Pro)	CCDC172 (Q100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467178	NM_198515.3(CCDC172):c.300A>C (p.Gln100His)	CCDC172 (Q100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611848	NM_198515.3(CCDC172):c.340G>A (p.Asp114Asn)	CCDC172 (D114N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615169	NM_198515.3(CCDC172):c.462G>A (p.Met154Ile)	CCDC172 (M154I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484307	NM_198515.3(CCDC172):c.465A>T (p.Glu155Asp)	CCDC172 (E155D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286522	NM_198515.3(CCDC172):c.586A>G (p.Thr196Ala)	CCDC172 (T196A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 41