CCDC134[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 154653	GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3	CCDC134, CENPM +35 more	Copy number gain	See cases	GUncertain significance
Select item 634649	NM_024821.5(CCDC134):c.2T>C (p.Met1Thr)	CCDC134 (M1T)	Single nucleotide variant (missense variant +1 more)	Severe progressive deforming recessive osteogenesis imperfecta (type III)	GPathogenic
Select item 2371750	NM_024821.5(CCDC134):c.100A>C (p.Ile34Leu)	CCDC134 (I34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466220	NM_024821.5(CCDC134):c.149T>A (p.Leu50Gln)	CCDC134 (L50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568453	NM_024821.5(CCDC134):c.178C>T (p.His60Tyr)	CCDC134 (H60Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138345	NM_024821.5(CCDC134):c.196C>T (p.Leu66Phe)	CCDC134 (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263832	NM_024821.5(CCDC134):c.294C>A (p.Asp98Glu)	CCDC134 (D98E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466880	NM_024821.5(CCDC134):c.295G>A (p.Glu99Lys)	CCDC134 (E99K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334751	NM_024821.5(CCDC134):c.337G>T (p.Ala113Ser)	CCDC134 (A113S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138346	NM_024821.5(CCDC134):c.361C>T (p.Arg121Cys)	CCDC134 (R121C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138347	NM_024821.5(CCDC134):c.368C>T (p.Pro123Leu)	CCDC134 (P123L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211952	NM_024821.5(CCDC134):c.377T>C (p.Val126Ala)	CCDC134 (V126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653234	NM_024821.5(CCDC134):c.381C>T (p.His127=)	CCDC134	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2277776	NM_024821.5(CCDC134):c.404A>G (p.Asn135Ser)	CCDC134 (N135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580830	NM_024821.5(CCDC134):c.492G>C (p.Leu164=)	CCDC134	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3138348	NM_024821.5(CCDC134):c.509G>A (p.Gly170Glu)	CCDC134 (G170E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138349	NM_024821.5(CCDC134):c.553G>A (p.Asp185Asn)	CCDC134 (D185N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526452	NM_024821.5(CCDC134):c.556C>G (p.Arg186Gly)	CCDC134 (R186G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382616	NM_024821.5(CCDC134):c.560C>T (p.Thr187Ile)	CCDC134 (T187I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138350	NM_024821.5(CCDC134):c.592A>C (p.Lys198Gln)	CCDC134 (K85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138351	NM_024821.5(CCDC134):c.620G>A (p.Arg207Gln)	CCDC134 (R207Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138352	NM_024821.5(CCDC134):c.658C>T (p.Pro220Ser)	CCDC134 (P220S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065715	NM_024821.5(CCDC134):c.676C>T (p.Gln226Ter)	CCDC134 (Q113* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta, IIA 22	GUncertain significance
Select item 3263833	NM_024821.5(CCDC134):c.680C>A (p.Ser227Tyr)	CCDC134 (S114Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263831	NM_024821.5(CCDC134):c.683A>C (p.Glu228Ala)	CCDC134 (E228A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2685679	GRCh37/hg19 22q13.2(chr22:42178402-42232146)x1	CCDC134, MEI1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1808364	GRCh37/hg19 22q13.2(chr22:42146023-42206790)x1	CCDC134, MEI1	Copy number loss	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979608	GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3	SREBF2, MEI1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979607	GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1	MEI1, MIR33A +14 more	Copy number loss	not provided	GUncertain significance
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565011	GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	NDUFA6, WBP2NL +21 more	Copy number gain	not provided	GLikely pathogenic
Select item 443784	GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	ACO2, CCDC134 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 54