ADAM7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +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 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 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 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	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 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	RHOBTB2, SCARA3 +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 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 148813	GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3	ADAM28, ADAM7 +72 more	Copy number gain	See cases	GUncertain significance
Select item 147426	GRCh38/hg38 8p21.2(chr8:23757449-24517207)x3	ADAM28, ADAM7 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58413	GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3	ADAM28, ADAM7 +26 more	Copy number gain	See cases	GUncertain significance
Select item 153727	GRCh38/hg38 8p21.2(chr8:24017764-24642890)x3	ADAM28, ADAM7 +6 more	Copy number gain	See cases	GUncertain significance
Select item 58414	GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3	ADAM7, ADAM7-AS1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2357594	NM_003817.4(ADAM7):c.236A>T (p.Glu79Val)	ADAM7-AS1, ADAM7 (E79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287259	NM_003817.4(ADAM7):c.279A>C (p.Lys93Asn)	ADAM7, ADAM7-AS1 (K93N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491660	NM_003817.4(ADAM7):c.396C>A (p.Phe132Leu)	ADAM7, ADAM7-AS1 (F132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327193	NM_003817.4(ADAM7):c.501T>A (p.Asn167Lys)	ADAM7-AS1, ADAM7 (N167K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360918	NM_003817.4(ADAM7):c.571A>G (p.Lys191Glu)	ADAM7, ADAM7-AS1 (K191E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 873299	NM_003817.4(ADAM7):c.633+3318dup	ADAM7, ADAM7-AS1	Duplication (intron variant)	not specified	GBenign
Select item 2587913	NM_003817.4(ADAM7):c.804A>T (p.Leu268Phe)	ADAM7, ADAM7-AS1 (L268F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389666	NM_003817.4(ADAM7):c.886C>T (p.Leu296Phe)	ADAM7-AS1, ADAM7 (L296F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535096	NM_003817.4(ADAM7):c.982A>C (p.Ile328Leu)	ADAM7, ADAM7-AS1 (I328L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282215	NM_003817.4(ADAM7):c.986T>C (p.Ile329Thr)	ADAM7, ADAM7-AS1 (I329T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493524	NM_003817.4(ADAM7):c.1029G>A (p.Met343Ile)	ADAM7, ADAM7-AS1 (M343I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495811	NM_003817.4(ADAM7):c.1108T>C (p.Phe370Leu)	ADAM7, ADAM7-AS1 (F370L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250791	NM_003817.4(ADAM7):c.1166G>A (p.Cys389Tyr)	ADAM7, ADAM7-AS1 (C389Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381713	NM_003817.4(ADAM7):c.1171C>T (p.Leu391Phe)	ADAM7, ADAM7-AS1 (L391F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2313447	NM_003817.4(ADAM7):c.1249G>A (p.Asp417Asn)	ADAM7-AS1, ADAM7 (D417N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236869	NM_003817.4(ADAM7):c.1325G>A (p.Cys442Tyr)	ADAM7, ADAM7-AS1 +1 more (C442Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242464	NM_003817.4(ADAM7):c.1337A>G (p.Glu446Gly)	ADAM7-AS1, ADAM7 +1 more (E446G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222597	NM_003817.4(ADAM7):c.1364A>G (p.Lys455Arg)	ADAM7, ADAM7-AS2 +1 more (K455R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290857	NM_003817.4(ADAM7):c.1388C>A (p.Ala463Glu)	ADAM7-AS1, ADAM7-AS2 +1 more (A463E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205499	NM_003817.4(ADAM7):c.1475G>A (p.Cys492Tyr)	ADAM7-AS2, ADAM7-AS1 +1 more (C492Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279822	NM_003817.4(ADAM7):c.1500C>A (p.Phe500Leu)	ADAM7-AS2, ADAM7 +1 more (F500L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372674	NM_003817.4(ADAM7):c.1667G>A (p.Cys556Tyr)	ADAM7-AS1, ADAM7-AS2 +1 more (C556Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537290	NM_003817.4(ADAM7):c.1769A>G (p.Lys590Arg)	ADAM7, ADAM7-AS1 +1 more (K590R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555796	NM_003817.4(ADAM7):c.1774A>C (p.Ile592Leu)	ADAM7, ADAM7-AS1 +1 more (I592L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259416	NM_003817.4(ADAM7):c.1786C>A (p.His596Asn)	ADAM7, ADAM7-AS1 +1 more (H596N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210025	NM_003817.4(ADAM7):c.1810G>C (p.Val604Leu)	ADAM7-AS2, ADAM7-AS1 +1 more (V604L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204092	NM_003817.4(ADAM7):c.1837G>C (p.Gly613Arg)	ADAM7-AS2, ADAM7-AS1 +1 more (G613R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658485	NM_003817.4(ADAM7):c.1845G>C (p.Val615=)	ADAM7, ADAM7-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308249	NM_003817.4(ADAM7):c.1981G>A (p.Glu661Lys)	ADAM7, ADAM7-AS2 +1 more (E661K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591596	NM_003817.4(ADAM7):c.2050G>A (p.Gly684Arg)	ADAM7, ADAM7-AS1 +1 more (G684R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348207	NM_003817.4(ADAM7):c.2072G>A (p.Arg691His)	ADAM7-AS2, ADAM7-AS1 +1 more (R691H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614746	NM_003817.4(ADAM7):c.2141A>T (p.Lys714Ile)	ADAM7, ADAM7-AS1 +1 more (K714I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368739	NM_003817.4(ADAM7):c.2183T>A (p.Ile728Asn)	ADAM7-AS1, ADAM7 +1 more (I728N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368740	NM_003817.4(ADAM7):c.2184C>G (p.Ile728Met)	ADAM7, ADAM7-AS1 +1 more (I728M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366056	NM_003817.4(ADAM7):c.2213C>T (p.Pro738Leu)	ADAM7-AS2, ADAM7 +1 more (P738L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256053	NM_003817.4(ADAM7):c.2239G>A (p.Ala747Thr)	ADAM7-AS2, ADAM7 +1 more (A747T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
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 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
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 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	ADAM28, ADAM7 +55 more	Copy number gain	not provided	GPathogenic
Select item 1340971	GRCh37/hg19 8p21.2(chr8:24221648-24947015)x3	ADAM7, ADAMDEC1 +2 more	Copy number gain	not provided	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 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic

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