CCDC126[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 151970	GRCh38/hg38 7p15.3(chr7:23423194-23635828)x1	CCDC126, IGF2BP3 +14 more	Copy number loss	See cases	GLikely benign
Select item 3263819	NM_138771.4(CCDC126):c.58G>A (p.Val20Ile)	CCDC126 (V20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138324	NM_138771.4(CCDC126):c.91C>T (p.His31Tyr)	CCDC126 (H31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138322	NM_138771.4(CCDC126):c.170T>C (p.Val57Ala)	CCDC126 (V57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138323	NM_138771.4(CCDC126):c.181G>A (p.Ala61Thr)	CCDC126 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619798	NM_138771.4(CCDC126):c.206A>T (p.Asp69Val)	CCDC126 (D69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305358	NM_138771.4(CCDC126):c.217G>T (p.Gly73Cys)	CCDC126 (G73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223819	NM_138771.4(CCDC126):c.217G>A (p.Gly73Ser)	CCDC126 (G73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263821	NM_138771.4(CCDC126):c.233G>C (p.Gly78Ala)	CCDC126 (G78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529336	NM_138771.4(CCDC126):c.293T>C (p.Val98Ala)	CCDC126 (V98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221403	NM_138771.4(CCDC126):c.303G>C (p.Glu101Asp)	CCDC126 (E101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263822	NM_138771.4(CCDC126):c.325G>C (p.Val109Leu)	CCDC126 (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524616	NM_138771.4(CCDC126):c.350C>G (p.Thr117Ser)	CCDC126 (T117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392163	NM_138771.4(CCDC126):c.353A>G (p.Asn118Ser)	CCDC126 (N118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480660	NM_138771.4(CCDC126):c.356G>A (p.Gly119Asp)	CCDC126 (G119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263820	NM_138771.4(CCDC126):c.403G>C (p.Val135Leu)	CCDC126 (V135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531620	NM_138771.4(CCDC126):c.409G>A (p.Gly137Ser)	CCDC126 (G137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2684484	GRCh37/hg19 7p15.3(chr7:22362299-23695195)x3	GPNMB, CCDC126 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340094	GRCh37/hg19 7p15.3(chr7:23583145-23848876)x3	CCDC126, FAM221A +1 more	Copy number gain	not provided	GUncertain significance
Select item 979765	GRCh37/hg19 7p15.3(chr7:23680359-23812283)x1	FAM221A, STK31 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 49