ClinVar for Gene (Select 55246) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139066	NM_018246.3(CCDC25):c.584T>C (p.Met195Thr)	CCDC25 (M195T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3139065	NM_018246.3(CCDC25):c.407C>T (p.Thr136Ile)	CCDC25 (T136I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	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 2685306	GRCh37/hg19 8p21.1(chr8:27597532-27692879)x1	CCDC25, ESCO2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684535	GRCh37/hg19 8p21.1(chr8:27406843-27733562)x3	CCDC25, CLU +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2461622	NM_018246.3(CCDC25):c.605A>G (p.Asn202Ser)	CCDC25 (N134S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384418	NM_018246.3(CCDC25):c.419G>A (p.Arg140Gln)	CCDC25 (R72Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378201	NM_018246.3(CCDC25):c.260A>G (p.Asn87Ser)	CCDC25 (N19S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377020	NM_018246.3(CCDC25):c.424C>T (p.Pro142Ser)	CCDC25 (P74S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330031	NM_018246.3(CCDC25):c.326T>C (p.Ile109Thr)	CCDC25 (I109T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328244	NM_018246.3(CCDC25):c.102G>T (p.Trp34Cys)	CCDC25 (W34C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308859	NM_018246.3(CCDC25):c.281C>T (p.Pro94Leu)	CCDC25 (P94L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808101	GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3	CCDC25, CHRNA2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1511682	NC_000008.10:g.(?_27319146)_(28608383_?)dup	CCDC25, CHRNA2 +13 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 980297	GRCh37/hg19 8p21.1(chr8:27417421-27643275)x3	CLU, CCDC25 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442524	GRCh37/hg19 8p21.1-12(chr8:27501662-29342607)x3	CCDC25, DUSP4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ALKAL1, ANK1 +133 more	Copy number gain	See cases	GUncertain significance
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 91