ClinVar for Gene (Select 27299) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266328	NM_014479.3(ADAMDEC1):c.881A>G (p.His294Arg)	ADAM7-AS1, ADAMDEC1 (H215R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266322	NM_014479.3(ADAMDEC1):c.487A>G (p.Lys163Glu)	ADAM7-AS1, ADAMDEC1 (K163E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266317	NM_014479.3(ADAMDEC1):c.11G>A (p.Gly4Glu)	ADAM7-AS1, ADAMDEC1 (G4E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3266308	NM_014479.3(ADAMDEC1):c.1381G>A (p.Gly461Arg)	ADAM7-AS1, ADAMDEC1 (G382R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146434	NM_014479.3(ADAMDEC1):c.962T>C (p.Leu321Pro)	ADAM7-AS1, ADAMDEC1 (L321P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146432	NM_014479.3(ADAMDEC1):c.911A>G (p.Asp304Gly)	ADAM7-AS1, ADAMDEC1 (D225G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146422	NM_014479.3(ADAMDEC1):c.733G>A (p.Val245Met)	ADAM7-AS1, ADAMDEC1 (V245M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146409	NM_014479.3(ADAMDEC1):c.575C>T (p.Thr192Ile)	ADAM7-AS1, ADAMDEC1 (T113I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146400	NM_014479.3(ADAMDEC1):c.505G>A (p.Glu169Lys)	ADAM7-AS1, ADAMDEC1 (E169K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146385	NM_014479.3(ADAMDEC1):c.317T>C (p.Leu106Ser)	ADAM7-AS1, ADAMDEC1 (L106S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146369	NM_014479.3(ADAMDEC1):c.1373C>A (p.Thr458Asn)	ADAM7-AS1, ADAMDEC1 (T458N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146361	NM_014479.3(ADAMDEC1):c.1277A>G (p.His426Arg)	ADAM7-AS1, ADAMDEC1 (H347R +1 more)	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	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 2589363	NM_014479.3(ADAMDEC1):c.514G>T (p.Val172Phe)	ADAM7-AS1, ADAMDEC1 (V172F +1 more)	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 2568606	NM_014479.3(ADAMDEC1):c.1274A>T (p.Asn425Ile)	ADAM7-AS1, ADAMDEC1 (N346I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560021	NM_014479.3(ADAMDEC1):c.199G>A (p.Gly67Ser)	ADAM7-AS1, ADAMDEC1 (G67S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2558339	NM_014479.3(ADAMDEC1):c.833A>G (p.Lys278Arg)	ADAM7-AS1, ADAMDEC1 (K278R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546140	NM_014479.3(ADAMDEC1):c.433G>A (p.Gly145Arg)	ADAM7-AS1, ADAMDEC1 (G145R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542206	NM_014479.3(ADAMDEC1):c.131T>C (p.Ile44Thr)	ADAM7-AS1, ADAMDEC1 (I44T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2532316	NM_014479.3(ADAMDEC1):c.643C>T (p.Arg215Trp)	ADAM7-AS1, ADAMDEC1 (R136W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530027	NM_014479.3(ADAMDEC1):c.32T>C (p.Val11Ala)	ADAM7-AS1, ADAMDEC1 (V11A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2528561	NM_014479.3(ADAMDEC1):c.1384G>A (p.Gly462Arg)	ADAM7-AS1, ADAMDEC1 (G383R +1 more)	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 2483668	NM_014479.3(ADAMDEC1):c.188C>T (p.Thr63Ile)	ADAM7-AS1, ADAMDEC1 (T63I)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2461761	NM_014479.3(ADAMDEC1):c.580G>A (p.Gly194Arg)	ADAM7-AS1, ADAMDEC1 (G194R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387390	NM_014479.3(ADAMDEC1):c.286C>A (p.His96Asn)	ADAM7-AS1, ADAMDEC1 (H17N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359560	NM_014479.3(ADAMDEC1):c.421A>G (p.Ser141Gly)	ADAM7-AS1, ADAMDEC1 (S62G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329796	NM_014479.3(ADAMDEC1):c.34G>A (p.Ala12Thr)	ADAM7-AS1, ADAMDEC1 (A12T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2322119	NM_014479.3(ADAMDEC1):c.1194A>C (p.Arg398Ser)	ADAM7-AS1, ADAMDEC1 (R398S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319443	NM_014479.3(ADAMDEC1):c.746T>C (p.Met249Thr)	ADAM7-AS1, ADAMDEC1 (M170T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289304	NM_014479.3(ADAMDEC1):c.512C>A (p.Ala171Asp)	ADAM7-AS1, ADAMDEC1 (A171D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259932	NM_014479.3(ADAMDEC1):c.1097A>T (p.Asn366Ile)	ADAM7-AS1, ADAMDEC1 (N366I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220605	NM_014479.3(ADAMDEC1):c.554A>G (p.His185Arg)	ADAM7-AS1, ADAMDEC1 (H106R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	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)	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 786556	NM_014479.3(ADAMDEC1):c.119C>T (p.Thr40Met)	ADAM7-AS1, ADAMDEC1 (T40M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 782511	NM_014479.3(ADAMDEC1):c.762+10T>C	ADAM7-AS1, ADAMDEC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781137	NM_014479.3(ADAMDEC1):c.1323G>A (p.Glu441=)	ADAM7-AS1, ADAMDEC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781136	NM_014479.3(ADAMDEC1):c.1315C>T (p.Pro439Ser)	ADAM7-AS1, ADAMDEC1 (P439S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781135	NM_014479.3(ADAMDEC1):c.888T>C (p.Ser296=)	ADAM7-AS1, ADAMDEC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781134	NM_014479.3(ADAMDEC1):c.765A>T (p.Ile255=)	ADAM7-AS1, ADAMDEC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781121	NM_014479.3(ADAMDEC1):c.362T>C (p.Met121Thr)	ADAM7-AS1, ADAMDEC1 (M121T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781120	NM_014479.3(ADAMDEC1):c.242T>C (p.Ile81Thr)	ADAM7-AS1, ADAMDEC1 (I81T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 717905	NM_014479.3(ADAMDEC1):c.131T>G (p.Ile44Arg)	ADAM7-AS1, ADAMDEC1 (I44R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
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 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	ADAM28, ADAM7 +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	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 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 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	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 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	MIR4660, MIR548H4 +773 more	Copy number loss	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 153727	GRCh38/hg38 8p21.2(chr8:24017764-24642890)x3	ADAM28, ADAM7 +6 more	Copy number gain	See cases	GUncertain significance
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

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