COPS7B[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 2258792	NM_022730.4(COPS7B):c.85G>A (p.Ala29Thr)	COPS7B (A29T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324565	NM_022730.4(COPS7B):c.226C>G (p.Pro76Ala)	COPS7B (P76A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226522	NM_022730.4(COPS7B):c.343G>A (p.Val115Met)	COPS7B (V8M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514860	NM_022730.4(COPS7B):c.439C>G (p.Gln147Glu)	COPS7B (Q147E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337491	NM_022730.4(COPS7B):c.490A>C (p.Lys164Gln)	COPS7B (K109Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254848	NM_022730.4(COPS7B):c.560G>A (p.Gly187Asp)	COPS7B (G80D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460397	NM_022730.4(COPS7B):c.593A>G (p.Tyr198Cys)	COPS7B (Y164C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559654	NM_022730.4(COPS7B):c.667A>G (p.Thr223Ala)	COPS7B (T189A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076286	NM_022730.4(COPS7B):c.686A>G (p.Gln229Arg)	COPS7B (Q195R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621565	NM_022730.4(COPS7B):c.699G>C (p.Gln233His)	COPS7B (Q126H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461064	NM_022730.4(COPS7B):c.748A>G (p.Thr250Ala)	COPS7B (T143A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076287	NM_022730.4(COPS7B):c.764A>C (p.Lys255Thr)	COPS7B (K148T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	ALPG, ALPI +54 more	Duplication	Joubert syndrome 22 +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638105	GRCh37/hg19 2q37.1(chr2:232550626-232968158)x3	COPS7B, DIS3L2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635923	Single allele	COPS7B, DIS3L2 +1 more	Deletion	Skeletal dysplasia	GUncertain significance
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	ACKR3, ACSL3 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 45