ClinVar for Gene (Select 8756) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266150	NM_003817.4(ADAM7):c.1712G>C (p.Gly571Ala)	ADAM7, ADAM7-AS1 +1 more (G571A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266142	NM_003817.4(ADAM7):c.1918A>C (p.Asn640His)	ADAM7, ADAM7-AS1 +1 more (N640H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266141	NM_003817.4(ADAM7):c.1096C>T (p.Pro366Ser)	ADAM7, ADAM7-AS1 (P366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266130	NM_003817.4(ADAM7):c.1367C>T (p.Ala456Val)	ADAM7, ADAM7-AS1 +1 more (A456V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3266124	NM_003817.4(ADAM7):c.1741C>A (p.Pro581Thr)	ADAM7, ADAM7-AS1 +1 more (P581T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266113	NM_003817.4(ADAM7):c.1354C>G (p.Gln452Glu)	ADAM7, ADAM7-AS1 +1 more (Q452E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266103	NM_003817.4(ADAM7):c.310A>G (p.Met104Val)	ADAM7, ADAM7-AS1 (M104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145976	NM_003817.4(ADAM7):c.919G>A (p.Gly307Arg)	ADAM7, ADAM7-AS1 (G307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145967	NM_003817.4(ADAM7):c.865G>A (p.Val289Ile)	ADAM7, ADAM7-AS1 (V289I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145965	NM_003817.4(ADAM7):c.808C>T (p.Arg270Cys)	ADAM7, ADAM7-AS1 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145957	NM_003817.4(ADAM7):c.791T>C (p.Ile264Thr)	ADAM7, ADAM7-AS1 (I264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145953	NM_003817.4(ADAM7):c.584T>C (p.Ile195Thr)	ADAM7, ADAM7-AS1 (I195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145949	NM_003817.4(ADAM7):c.32T>C (p.Leu11Ser)	ADAM7, ADAM7-AS1 (L11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145947	NM_003817.4(ADAM7):c.301C>A (p.Pro101Thr)	ADAM7, ADAM7-AS1 (P101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145925	NM_003817.4(ADAM7):c.2163G>C (p.Gln721His)	ADAM7, ADAM7-AS1 +1 more (Q721H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145924	NM_003817.4(ADAM7):c.2041G>A (p.Val681Ile)	ADAM7, ADAM7-AS1 +1 more (V681I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145923	NM_003817.4(ADAM7):c.2026C>T (p.Leu676Phe)	ADAM7, ADAM7-AS1 +1 more (L676F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145910	NM_003817.4(ADAM7):c.1632C>G (p.Asn544Lys)	ADAM7, ADAM7-AS1 +1 more (N544K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145898	NM_003817.4(ADAM7):c.1457G>A (p.Arg486Lys)	ADAM7, ADAM7-AS1 +1 more (R486K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3145882	NM_003817.4(ADAM7):c.1236G>T (p.Glu412Asp)	ADAM7, ADAM7-AS1 (E412D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145878	NM_003817.4(ADAM7):c.1178T>C (p.Ile393Thr)	ADAM7, ADAM7-AS1 (I393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145870	NM_003817.4(ADAM7):c.1154A>G (p.Tyr385Cys)	ADAM7, ADAM7-AS1 (Y385C)	Single nucleotide variant (missense variant)	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	ADAM18, ADAM2 +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	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
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 2614746	NM_003817.4(ADAM7):c.2141A>T (p.Lys714Ile)	ADAM7, ADAM7-AS1 +1 more (K714I)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2587913	NM_003817.4(ADAM7):c.804A>T (p.Leu268Phe)	ADAM7, ADAM7-AS1 (L268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2555796	NM_003817.4(ADAM7):c.1774A>C (p.Ile592Leu)	ADAM7, ADAM7-AS1 +1 more (I592L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2535096	NM_003817.4(ADAM7):c.982A>C (p.Ile328Leu)	ADAM7, ADAM7-AS1 (I328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2495811	NM_003817.4(ADAM7):c.1108T>C (p.Phe370Leu)	ADAM7, ADAM7-AS1 (F370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493524	NM_003817.4(ADAM7):c.1029G>A (p.Met343Ile)	ADAM7, ADAM7-AS1 (M343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491660	NM_003817.4(ADAM7):c.396C>A (p.Phe132Leu)	ADAM7, ADAM7-AS1 (F132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389666	NM_003817.4(ADAM7):c.886C>T (p.Leu296Phe)	ADAM7, ADAM7-AS1 (L296F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381713	NM_003817.4(ADAM7):c.1171C>T (p.Leu391Phe)	ADAM7, ADAM7-AS1 (L391F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372674	NM_003817.4(ADAM7):c.1667G>A (p.Cys556Tyr)	ADAM7, ADAM7-AS1 +1 more (C556Y)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2368739	NM_003817.4(ADAM7):c.2183T>A (p.Ile728Asn)	ADAM7, ADAM7-AS1 +1 more (I728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366056	NM_003817.4(ADAM7):c.2213C>T (p.Pro738Leu)	ADAM7, ADAM7-AS1 +1 more (P738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360918	NM_003817.4(ADAM7):c.571A>G (p.Lys191Glu)	ADAM7, ADAM7-AS1 (K191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357594	NM_003817.4(ADAM7):c.236A>T (p.Glu79Val)	ADAM7, ADAM7-AS1 (E79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348207	NM_003817.4(ADAM7):c.2072G>A (p.Arg691His)	ADAM7, ADAM7-AS1 +1 more (R691H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327193	NM_003817.4(ADAM7):c.501T>A (p.Asn167Lys)	ADAM7, ADAM7-AS1 (N167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313447	NM_003817.4(ADAM7):c.1249G>A (p.Asp417Asn)	ADAM7, ADAM7-AS1 (D417N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308249	NM_003817.4(ADAM7):c.1981G>A (p.Glu661Lys)	ADAM7, ADAM7-AS1 +1 more (E661K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290857	NM_003817.4(ADAM7):c.1388C>A (p.Ala463Glu)	ADAM7, ADAM7-AS1 +1 more (A463E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287259	NM_003817.4(ADAM7):c.279A>C (p.Lys93Asn)	ADAM7, ADAM7-AS1 (K93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282215	NM_003817.4(ADAM7):c.986T>C (p.Ile329Thr)	ADAM7, ADAM7-AS1 (I329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279822	NM_003817.4(ADAM7):c.1500C>A (p.Phe500Leu)	ADAM7, ADAM7-AS1 +1 more (F500L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2256053	NM_003817.4(ADAM7):c.2239G>A (p.Ala747Thr)	ADAM7, ADAM7-AS1 +1 more (A747T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250791	NM_003817.4(ADAM7):c.1166G>A (p.Cys389Tyr)	ADAM7, ADAM7-AS1 (C389Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242464	NM_003817.4(ADAM7):c.1337A>G (p.Glu446Gly)	ADAM7, ADAM7-AS1 +1 more (E446G)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2222597	NM_003817.4(ADAM7):c.1364A>G (p.Lys455Arg)	ADAM7, ADAM7-AS1 +1 more (K455R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210025	NM_003817.4(ADAM7):c.1810G>C (p.Val604Leu)	ADAM7, ADAM7-AS1 +1 more (V604L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205499	NM_003817.4(ADAM7):c.1475G>A (p.Cys492Tyr)	ADAM7, ADAM7-AS1 +1 more (C492Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2204092	NM_003817.4(ADAM7):c.1837G>C (p.Gly613Arg)	ADAM7, ADAM7-AS1 +1 more (G613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +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	ADAMDEC1, ADGRA2 +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	PIWIL2, STC1 +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)	SPAG11A, STMN4 +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 873299	NM_003817.4(ADAM7):c.633+3318dup	ADAM7, ADAM7-AS1	Duplication (intron variant)	not specified	GBenign
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	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686595	GRCh37/hg19 8p21.2(chr8:23501519-24907990)x1	ADAM28, ADAM7 +6 more	Copy number loss	not provided	GPathogenic
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	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 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563500	GRCh37/hg19 8p21.2(chr8:24314161-24933369)x3	ADAM7, NEFM +1 more	Copy number gain	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	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	AARD, ABRA +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 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	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 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 395464	GRCh37/hg19 8p21.2(chr8:24157516-24483615)x3	ADAM28, ADAM7 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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