ClinVar for Gene (Select 10987) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076279	NM_006837.3(COPS5):c.754T>A (p.Ser252Thr)	COPS5 (S252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076278	NM_006837.3(COPS5):c.200T>A (p.Met67Lys)	COPS5 (M67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063035	GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)x1	ARFGEF1, COPS5 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2475507	NM_006837.3(COPS5):c.837G>T (p.Gln279His)	COPS5 (Q279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374416	NM_006837.3(COPS5):c.50A>G (p.Asn17Ser)	COPS5 (N17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325781	NM_006837.3(COPS5):c.910A>G (p.Thr304Ala)	COPS5 (T304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321313	NM_006837.3(COPS5):c.142G>A (p.Asp48Asn)	COPS5, LOC130000546 (D48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808390	GRCh37/hg19 8q13.1-13.2(chr8:67642641-68406704)x1	ARFGEF1, C8orf44-SGK3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1807954	GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1	ADHFE1, ARFGEF1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 1042682	NC_000008.10:g.(?_67786376)_(68165857_?)dup	ARFGEF1, COPS5 +6 more	Duplication	Joubert syndrome 21	GUncertain significance
Select item 979237	GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3	PPP1R42, C8orf44-SGK3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 833233	NC_000008.11:g.(?_67010715)_(67064496_?)dup	COPS5, CSPP1 +1 more	Duplication	Joubert syndrome 21	GUncertain significance
Select item 815133	GRCh37/hg19 8q13.1-13.2(chr8:67828205-68074172)x3	PPP1R42, TCF24 +5 more	Copy number gain	not provided	GLikely benign
Select item 815132	GRCh37/hg19 8q13.1-13.2(chr8:67718713-68020835)x3	TCF24, SNHG6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687894	GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)x3	ARFGEF1, COPS5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563442	GRCh37/hg19 8q13.1-13.2(chr8:67951205-68078373)x1	CSPP1, COPS5	Copy number loss	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152916	GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3	ARFGEF1, COPS5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41