CCDC106[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 2361242	NM_001370470.1(CCDC106):c.10C>T (p.Arg4Trp)	CCDC106 (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138233	NM_001370470.1(CCDC106):c.37G>A (p.Asp13Asn)	CCDC106 (D13N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401389	NM_001370470.1(CCDC106):c.40G>A (p.Asp14Asn)	CCDC106 (D14N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237488	NM_001370470.1(CCDC106):c.89A>C (p.Asp30Ala)	CCDC106 (D30A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263769	NM_001370470.1(CCDC106):c.113G>A (p.Ser38Asn)	CCDC106 (S38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254737	NM_001370470.1(CCDC106):c.116C>A (p.Pro39His)	CCDC106 (P39H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379716	NM_001370470.1(CCDC106):c.122G>A (p.Arg41Gln)	CCDC106 (R41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477501	NM_001370470.1(CCDC106):c.126A>T (p.Arg42Ser)	CCDC106 (R42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512099	NM_001370470.1(CCDC106):c.164T>C (p.Leu55Pro)	CCDC106 (L20P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250005	NM_001370470.1(CCDC106):c.167C>T (p.Ala56Val)	CCDC106 (A56V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246277	NM_001370470.1(CCDC106):c.212G>A (p.Arg71Lys)	CCDC106 (R36K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138232	NM_001370470.1(CCDC106):c.325C>T (p.Arg109Trp)	CCDC106 (R109W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374069	NM_001370470.1(CCDC106):c.365G>A (p.Arg122His)	CCDC106 (R122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138234	NM_001370470.1(CCDC106):c.409T>G (p.Ser137Ala)	CCDC106 (S102A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263765	NM_001370470.1(CCDC106):c.483T>A (p.Ser161Arg)	CCDC106 (S126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263766	NM_001370470.1(CCDC106):c.491G>A (p.Arg164His)	CCDC106 (R164H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263767	NM_001370470.1(CCDC106):c.505A>C (p.Lys169Gln)	CCDC106 (K134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138235	NM_001370470.1(CCDC106):c.511C>T (p.Arg171Trp)	CCDC106 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489949	NM_001370470.1(CCDC106):c.571G>C (p.Gly191Arg)	CCDC106 (G191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284523	NM_001370470.1(CCDC106):c.665T>C (p.Leu222Pro)	CCDC106 (L222P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138236	NM_001370470.1(CCDC106):c.731T>G (p.Leu244Arg)	CCDC106 (L209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138237	NM_001370470.1(CCDC106):c.787C>G (p.Gln263Glu)	CCDC106 (Q228E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263768	NM_001370470.1(CCDC106):c.839G>A (p.Arg280Gln)	CCDC106 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 51