ClinVar for Gene (Select 10863) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265925	NM_014265.6(ADAM28):c.1651C>G (p.Leu551Val)	ADAM28, ADAM7-AS1 (L551V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265918	NM_014265.6(ADAM28):c.2146C>A (p.Pro716Thr)	ADAM28, ADAM7-AS1 (P716T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265907	NM_014265.6(ADAM28):c.64C>A (p.Leu22Ile)	ADAM28, ADAM7-AS1 (L22I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145344	NM_014265.6(ADAM28):c.904G>T (p.Ala302Ser)	ADAM28, ADAM7-AS1 (A302S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145335	NM_014265.6(ADAM28):c.760A>G (p.Met254Val)	ADAM28, ADAM7-AS1 (M254V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145329	NM_014265.6(ADAM28):c.749C>T (p.Ala250Val)	ADAM28, ADAM7-AS1 (A250V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145317	NM_014265.6(ADAM28):c.539T>G (p.Leu180Trp)	ADAM28, ADAM7-AS1 (L180W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145308	NM_014265.6(ADAM28):c.389A>G (p.Tyr130Cys)	ADAM28, ADAM7-AS1 (Y130C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145306	NM_014265.6(ADAM28):c.380T>C (p.Leu127Pro)	ADAM28, ADAM7-AS1 (L127P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145287	NM_014265.6(ADAM28):c.2225A>G (p.Asn742Ser)	ADAM28, ADAM7-AS1 (N742S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145279	NM_014265.6(ADAM28):c.2181G>A (p.Met727Ile)	ADAM28, ADAM7-AS1 (M727I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145258	NM_014265.6(ADAM28):c.1964A>G (p.Asp655Gly)	ADAM28, ADAM7-AS1 (D655G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145254	NM_014265.6(ADAM28):c.1963G>A (p.Asp655Asn)	ADAM28, ADAM7-AS1 (D655N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145252	NM_014265.6(ADAM28):c.1923T>G (p.His641Gln)	ADAM28, ADAM7-AS1 (H641Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145240	NM_014265.6(ADAM28):c.1595A>G (p.Tyr532Cys)	ADAM28, ADAM7-AS1 (Y532C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145233	NM_014265.6(ADAM28):c.1582G>T (p.Asp528Tyr)	ADAM28, ADAM7-AS1 (D528Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145227	NM_014265.6(ADAM28):c.1518G>A (p.Met506Ile)	ADAM28, ADAM7-AS1 (M506I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145215	NM_014265.6(ADAM28):c.1331C>G (p.Thr444Ser)	ADAM28, ADAM7-AS1 (T444S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145206	NM_014265.6(ADAM28):c.1136G>T (p.Ser379Ile)	ADAM28, ADAM7-AS1 (S379I)	Single nucleotide variant (missense variant +1 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	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 2658484	NM_014265.6(ADAM28):c.1710G>A (p.Ser570=)	ADAM28, ADAM7-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658483	NM_014265.6(ADAM28):c.1110T>C (p.Tyr370=)	ADAM28, ADAM7-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622623	NM_014265.6(ADAM28):c.415T>C (p.Phe139Leu)	ADAM28, ADAM7-AS1 (F139L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589370	NM_014265.6(ADAM28):c.313T>A (p.Cys105Ser)	ADAM28, ADAM7-AS1 (C105S)	Single nucleotide variant (missense variant +1 more)	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 2557168	NM_014265.6(ADAM28):c.1024G>C (p.Gly342Arg)	ADAM28, ADAM7-AS1 (G342R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536272	NM_014265.6(ADAM28):c.2269C>T (p.Pro757Ser)	ADAM28, ADAM7-AS1 (P757S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2514950	NM_014265.6(ADAM28):c.1624G>T (p.Gly542Trp)	ADAM28, ADAM7-AS1 (G542W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513639	NM_014265.6(ADAM28):c.958G>A (p.Val320Ile)	ADAM28, ADAM7-AS1 (V320I)	Single nucleotide variant (missense variant +1 more)	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 2397235	NM_014265.6(ADAM28):c.1126A>G (p.Ser376Gly)	ADAM28, ADAM7-AS1 (S376G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387409	NM_014265.6(ADAM28):c.1358G>T (p.Cys453Phe)	ADAM28, ADAM7-AS1 (C453F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387388	NM_014265.6(ADAM28):c.1273A>C (p.Thr425Pro)	ADAM28, ADAM7-AS1 (T425P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375538	NM_014265.6(ADAM28):c.1583A>G (p.Asp528Gly)	ADAM28, ADAM7-AS1 (D528G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373471	NM_014265.6(ADAM28):c.1981G>A (p.Val661Met)	ADAM28, ADAM7-AS1 (V661M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367999	NM_014265.6(ADAM28):c.616A>G (p.Ile206Val)	ADAM28, ADAM7-AS1 (I206V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355728	NM_014265.6(ADAM28):c.1709C>T (p.Ser570Leu)	ADAM28, ADAM7-AS1 (S570L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337371	NM_014265.6(ADAM28):c.2323G>C (p.Ala775Pro)	ADAM28, ADAM7-AS1 (A775P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327608	NM_014265.6(ADAM28):c.1288A>G (p.Thr430Ala)	ADAM28, ADAM7-AS1 (T430A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323649	NM_014265.6(ADAM28):c.1334T>G (p.Phe445Cys)	ADAM28, ADAM7-AS1 (F445C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321054	NM_014265.6(ADAM28):c.1118C>T (p.Thr373Ile)	ADAM28, ADAM7-AS1 (T373I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308483	NM_014265.6(ADAM28):c.1009A>T (p.Met337Leu)	ADAM28, ADAM7-AS1 (M337L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307134	NM_014265.6(ADAM28):c.2023A>G (p.Met675Val)	ADAM28, ADAM7-AS1 (M675V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299723	NM_014265.6(ADAM28):c.1565C>T (p.Pro522Leu)	ADAM28, ADAM7-AS1 (P522L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297840	NM_014265.6(ADAM28):c.2078A>G (p.Glu693Gly)	ADAM28, ADAM7-AS1 (E693G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297070	NM_014265.6(ADAM28):c.761T>C (p.Met254Thr)	ADAM28, ADAM7-AS1 (M254T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287954	NM_014265.6(ADAM28):c.549C>G (p.Asn183Lys)	ADAM28, ADAM7-AS1 (N183K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281091	NM_014265.6(ADAM28):c.509G>A (p.Gly170Glu)	ADAM28, ADAM7-AS1 (G170E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276411	NM_014265.6(ADAM28):c.2101C>G (p.Pro701Ala)	ADAM28, ADAM7-AS1 (P701A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256630	NM_014265.6(ADAM28):c.1109A>G (p.Tyr370Cys)	ADAM28, ADAM7-AS1 (Y370C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245435	NM_014265.6(ADAM28):c.1768C>A (p.Pro590Thr)	ADAM28, ADAM7-AS1 (P590T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228731	NM_014265.6(ADAM28):c.878C>T (p.Ala293Val)	ADAM28, ADAM7-AS1 (A293V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225901	NM_014265.6(ADAM28):c.50G>A (p.Ser17Asn)	ADAM28, ADAM7-AS1 (S17N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2221500	NM_014265.6(ADAM28):c.1316G>A (p.Cys439Tyr)	ADAM28, ADAM7-AS1 (C439Y)	Single nucleotide variant (missense variant +1 more)	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 1065829	NM_014265.6(ADAM28):c.1709C>G (p.Ser570Trp)	ADAM28, ADAM7-AS1 (S570W)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GAffects
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 789599	NM_014265.6(ADAM28):c.964G>A (p.Val322Ile)	ADAM28, ADAM7-AS1 (V322I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 713475	NM_014265.6(ADAM28):c.1452T>C (p.Asn484=)	ADAM28, ADAM7-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708349	NM_014265.6(ADAM28):c.439C>A (p.His147Asn)	ADAM28, ADAM7-AS1 (H147N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 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 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
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 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic

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