COPRS[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 148639	GRCh38/hg38 17q11.2(chr17:31441351-32005206)x1	COPRS, LOC108783653 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2313833	NM_018405.4(COPRS):c.400C>G (p.Gln134Glu)	COPRS (Q122E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076263	NM_018405.4(COPRS):c.377A>G (p.Asn126Ser)	COPRS (N114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329994	NM_018405.4(COPRS):c.373G>A (p.Gly125Arg)	COPRS (G125R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313723	NM_018405.4(COPRS):c.316G>A (p.Glu106Lys)	COPRS (E106K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076264	NM_018405.4(COPRS):c.68C>T (p.Pro23Leu)	COPRS, LOC130060668 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375491	NM_018405.4(COPRS):c.40G>A (p.Ala14Thr)	COPRS, LOC130060668 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266367	NM_018405.4(COPRS):c.37G>T (p.Ala13Ser)	COPRS, LOC130060668 (A13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310962	NM_018405.4(COPRS):c.22G>T (p.Ala8Ser)	COPRS, LOC130060668 (A8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352545	NM_018405.4(COPRS):c.6C>A (p.Asp2Glu)	COPRS, LOC130060668 (D2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Café-au-lait macules with pulmonary stenosis +3 more	GPathogenic
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	COPRS, LRRC37B +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 980153	GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 929369	GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1	COPRS, EVI2A +8 more	Copy number loss	See cases	GPathogenic
Select item 815924	GRCh37/hg19 17q11.2(chr17:29373189-30412788)x1	NF1, SUZ12 +8 more	Copy number loss	not provided	GPathogenic
Select item 688115	GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	ADAP2, ATAD5 +13 more	Copy number gain	not provided	GPathogenic
Select item 687019	GRCh37/hg19 17q11.2(chr17:29054315-30409336)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685655	GRCh37/hg19 17q11.2(chr17:28999903-30409337)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 666441	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	ADAP2, ATAD5 +12 more	Copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GPathogenic
Select item 625731	GRCh37/hg19 17q11.2(chr17:29111368-30183819)	ADAP2, ATAD5 +10 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564426	GRCh37/hg19 17q11.2(chr17:29003358-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 564425	GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 523264	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ADAP2, ATAD5 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523263	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ADAP2, ATAD5 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 443291	GRCh37/hg19 17q11.2(chr17:29103348-30298773)x1	ADAP2, ATAD5 +12 more	Copy number loss	See cases	GPathogenic
Select item 442660	GRCh37/hg19 17q11.2(chr17:28993036-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441568	GRCh37/hg19 17q11.2(chr17:28997791-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 394485	GRCh37/hg19 17q11.2(chr17:28959760-30367155)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 394235	GRCh37/hg19 17q11.2(chr17:30131154-30594822)x1	COPRS, LRRC37B +4 more	Copy number loss	See cases	GUncertain significance
Select item 374370	Single allele	EVI2A, EVI2B +10 more	Duplication	Global developmental delay +2 more	GLikely pathogenic
Select item 253816	GRCh37/hg19 17q11.2(chr17:29782998-30651260)x1	RHBDL3, RHOT1 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 58