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Gene: ADAM7-AS1 (ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1) Homo sapiens

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Symbol:

ADAM7-AS1

Name:

ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1

RGD ID:

38622638

HGNC Page

HGNC:56152

Description:

Type:

ncrna

RefSeq Status:

VALIDATED

Previously known as:

LOC101929294; uncharacterized LOC101929294

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	24,295,814 - 24,548,618 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	24,153,327 - 24,406,131 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	8	p21.2	NCBI
HuRef	8	22,697,939 - 22,703,316 (-)	NCBI		HuRef
CHM1_1	8	24,355,499 - 24,360,876 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	24,570,916 - 24,823,540 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

References

Additional References at PubMed

PMID:16344560

Genomics

Variants

Variants in ADAM7-AS1
240 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_014265.6(ADAM28):c.1624G>T (p.Gly542Trp)	single nucleotide variant	not specified [RCV004291517]	Chr8:24339522 [GRCh38] Chr8:24197035 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.131T>C (p.Ile44Thr)	single nucleotide variant	not specified [RCV004307852]	Chr8:24392304 [GRCh38] Chr8:24249817 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2269C>T (p.Pro757Ser)	single nucleotide variant	not specified [RCV004308833]	Chr8:24353794 [GRCh38] Chr8:24211307 [GRCh37] Chr8:8p21.2	likely benign
NM_014479.3(ADAMDEC1):c.833A>G (p.Lys278Arg)	single nucleotide variant	not specified [RCV004329563]	Chr8:24398944 [GRCh38] Chr8:24256457 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.433G>A (p.Gly145Arg)	single nucleotide variant	not specified [RCV004321141]	Chr8:24395789 [GRCh38] Chr8:24253302 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.1274A>T (p.Asn425Ile)	single nucleotide variant	not specified [RCV004330741]	Chr8:24402046 [GRCh38] Chr8:24259559 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.982A>C (p.Ile328Leu)	single nucleotide variant	not specified [RCV004308626]	Chr8:24487208 [GRCh38] Chr8:24344721 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1774A>C (p.Ile592Leu)	single nucleotide variant	not specified [RCV004329024]	Chr8:24493161 [GRCh38] Chr8:24350674 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.643C>T (p.Arg215Trp)	single nucleotide variant	not specified [RCV004299746]	Chr8:24397698 [GRCh38] Chr8:24255211 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1769A>G (p.Lys590Arg)	single nucleotide variant	not specified [RCV004306865]	Chr8:24493156 [GRCh38] Chr8:24350669 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.958G>A (p.Val320Ile)	single nucleotide variant	not specified [RCV004291136]	Chr8:24326621 [GRCh38] Chr8:24184134 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.32T>C (p.Val11Ala)	single nucleotide variant	not specified [RCV004299388]	Chr8:24384536 [GRCh38] Chr8:24242049 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.1384G>A (p.Gly462Arg)	single nucleotide variant	not specified [RCV004298938]	Chr8:24404066 [GRCh38] Chr8:24261579 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.571A>G (p.Lys191Glu)	single nucleotide variant	not specified [RCV004205731]	Chr8:24466980 [GRCh38] Chr8:24324493 [GRCh37] Chr8:8p21.2	uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
NM_014479.3(ADAMDEC1):c.762+10T>C	single nucleotide variant	not provided [RCV000963908]	Chr8:24398561 [GRCh38] Chr8:24256074 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
NM_014265.6(ADAM28):c.964G>A (p.Val322Ile)	single nucleotide variant	not provided [RCV000972258]	Chr8:24326627 [GRCh38] Chr8:24184140 [GRCh37] Chr8:8p21.2	likely benign
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	copy number gain	See cases [RCV000136026]	Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	copy number gain	See cases [RCV000053599]	Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	copy number loss	See cases [RCV000142747]	Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12	pathogenic
NM_014479.3(ADAMDEC1):c.242T>C (p.Ile81Thr)	single nucleotide variant	not provided [RCV000962311]	Chr8:24393296 [GRCh38] Chr8:24250809 [GRCh37] Chr8:8p21.2	benign
NM_014479.3(ADAMDEC1):c.1323G>A (p.Glu441=)	single nucleotide variant	not provided [RCV000962331]	Chr8:24404005 [GRCh38] Chr8:24261518 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	copy number gain	See cases [RCV000053629]	Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23	pathogenic
NM_014479.3(ADAMDEC1):c.119C>T (p.Thr40Met)	single nucleotide variant	not provided [RCV000968621]	Chr8:24392292 [GRCh38] Chr8:24249805 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	copy number gain	See cases [RCV000138244]	Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
NM_014479.3(ADAMDEC1):c.765A>T (p.Ile255=)	single nucleotide variant	not provided [RCV000962328]	Chr8:24398876 [GRCh38] Chr8:24256389 [GRCh37] Chr8:8p21.2	benign
NM_014479.3(ADAMDEC1):c.1315C>T (p.Pro439Ser)	single nucleotide variant	not provided [RCV000962330]	Chr8:24402087 [GRCh38] Chr8:24259600 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000148252]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1	pathogenic
NM_014265.6(ADAM28):c.439C>A (p.His147Asn)	single nucleotide variant	not provided [RCV000879591]	Chr8:24313443 [GRCh38] Chr8:24170956 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	copy number gain	See cases [RCV000139549]	Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000050297]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
NM_014265.6(ADAM28):c.1452T>C (p.Asn484=)	single nucleotide variant	not provided [RCV000885621]	Chr8:24335526 [GRCh38] Chr8:24193039 [GRCh37] Chr8:8p21.2	likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	copy number gain	See cases [RCV000139891]	Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	copy number gain	See cases [RCV000139770]	Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p21.2(chr8:24017764-24642890)x3	copy number gain	See cases [RCV000142014]	Chr8:24017764..24642890 [GRCh38] Chr8:23875277..24500403 [GRCh37] Chr8:23931222..24556293 [NCBI36] Chr8:8p21.2	uncertain significance
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	copy number gain	See cases [RCV000136825]	Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3	copy number gain	See cases [RCV000137878]	Chr8:22946697..25125997 [GRCh38] Chr8:22804210..24983512 [GRCh37] Chr8:22860155..25039429 [NCBI36] Chr8:8p21.3-21.2	uncertain significance
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	copy number gain	See cases [RCV000138831]	Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	copy number gain	See cases [RCV000138058]	Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12	pathogenic
NM_014479.3(ADAMDEC1):c.362T>C (p.Met121Thr)	single nucleotide variant	not provided [RCV000962312]	Chr8:24394146 [GRCh38] Chr8:24251659 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	copy number gain	See cases [RCV000051145]	Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12	pathogenic
NM_014479.3(ADAMDEC1):c.888T>C (p.Ser296=)	single nucleotide variant	not provided [RCV000962329]	Chr8:24398999 [GRCh38] Chr8:24256512 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	copy number gain	See cases [RCV000137807]	Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
NM_003817.4(ADAM7):c.633+3318dup	duplication	not specified [RCV001095513]	Chr8:24472122..24472123 [GRCh38] Chr8:24329635..24329636 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	copy number loss	See cases [RCV000142516]	Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p21.2(chr8:23757449-24517207)x3	copy number gain	See cases [RCV000136617]	Chr8:23757449..24517207 [GRCh38] Chr8:23614962..24374720 [GRCh37] Chr8:23670907..24430610 [NCBI36] Chr8:8p21.2	uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	copy number gain	See cases [RCV000053633]	Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12	pathogenic
NM_014479.3(ADAMDEC1):c.131T>G (p.Ile44Arg)	single nucleotide variant	not provided [RCV000890769]	Chr8:24392304 [GRCh38] Chr8:24249817 [GRCh37] Chr8:8p21.2	benign
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3	copy number gain	See cases [RCV000052167]	Chr8:23961808..25436108 [GRCh38] Chr8:23819321..25293624 [GRCh37] Chr8:23875266..25349541 [NCBI36] Chr8:8p21.2	uncertain significance
GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3	copy number gain	See cases [RCV000052168]	Chr8:24463803..25049184 [GRCh38] Chr8:24321316..24906699 [GRCh37] Chr8:24377206..24962616 [NCBI36] Chr8:8p21.2	uncertain significance
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	copy number gain	See cases [RCV000141410]	Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12	pathogenic
NM_014265.6(ADAM28):c.1709C>G (p.Ser570Trp)	single nucleotide variant	Hereditary spastic paraplegia [RCV001376690]	Chr8:24341636 [GRCh38] Chr8:24199149 [GRCh37] Chr8:8p21.2	affects
NM_014479.3(ADAMDEC1):c.1194A>C (p.Arg398Ser)	single nucleotide variant	not specified [RCV004170719]	Chr8:24401966 [GRCh38] Chr8:24259479 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1273A>C (p.Thr425Pro)	single nucleotide variant	not specified [RCV004220403]	Chr8:24331319 [GRCh38] Chr8:24188832 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.50G>A (p.Ser17Asn)	single nucleotide variant	not specified [RCV004087040]	Chr8:24299977 [GRCh38] Chr8:24157490 [GRCh37] Chr8:8p21.2	likely benign
NM_003817.4(ADAM7):c.2072G>A (p.Arg691His)	single nucleotide variant	not specified [RCV004184856]	Chr8:24500859 [GRCh38] Chr8:24358372 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.279A>C (p.Lys93Asn)	single nucleotide variant	not specified [RCV004133092]	Chr8:24463927 [GRCh38] Chr8:24321440 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1126A>G (p.Ser376Gly)	single nucleotide variant	not specified [RCV004228968]	Chr8:24331172 [GRCh38] Chr8:24188685 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1786C>A (p.His596Asn)	single nucleotide variant	not specified [RCV004121393]	Chr8:24493173 [GRCh38] Chr8:24350686 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1768C>A (p.Pro590Thr)	single nucleotide variant	not specified [RCV004106119]	Chr8:24341695 [GRCh38] Chr8:24199208 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2183T>A (p.Ile728Asn)	single nucleotide variant	not specified [RCV004209360]	Chr8:24501551 [GRCh38] Chr8:24359064 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2184C>G (p.Ile728Met)	single nucleotide variant	not specified [RCV004209361]	Chr8:24501552 [GRCh38] Chr8:24359065 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1166G>A (p.Cys389Tyr)	single nucleotide variant	not specified [RCV004109506]	Chr8:24489233 [GRCh38] Chr8:24346746 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2023A>G (p.Met675Val)	single nucleotide variant	not specified [RCV004155448]	Chr8:24349896 [GRCh38] Chr8:24207409 [GRCh37] Chr8:8p21.2	likely benign
NM_003817.4(ADAM7):c.1364A>G (p.Lys455Arg)	single nucleotide variant	not specified [RCV004088359]	Chr8:24491910 [GRCh38] Chr8:24349423 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1109A>G (p.Tyr370Cys)	single nucleotide variant	not specified [RCV004108396]	Chr8:24331155 [GRCh38] Chr8:24188668 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1388C>A (p.Ala463Glu)	single nucleotide variant	not specified [RCV004139877]	Chr8:24491934 [GRCh38] Chr8:24349447 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2078A>G (p.Glu693Gly)	single nucleotide variant	not specified [RCV004147415]	Chr8:24349951 [GRCh38] Chr8:24207464 [GRCh37] Chr8:8p21.2	likely benign
NM_003817.4(ADAM7):c.1337A>G (p.Glu446Gly)	single nucleotide variant	not specified [RCV004101653]	Chr8:24490869 [GRCh38] Chr8:24348382 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.509G>A (p.Gly170Glu)	single nucleotide variant	not specified [RCV004131947]	Chr8:24313513 [GRCh38] Chr8:24171026 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.878C>T (p.Ala293Val)	single nucleotide variant	not specified [RCV004095239]	Chr8:24323991 [GRCh38] Chr8:24181504 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.1097A>T (p.Asn366Ile)	single nucleotide variant	not specified [RCV004117473]	Chr8:24400255 [GRCh38] Chr8:24257768 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.512C>A (p.Ala171Asp)	single nucleotide variant	not specified [RCV004145774]	Chr8:24397341 [GRCh38] Chr8:24254854 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.421A>G (p.Ser141Gly)	single nucleotide variant	not specified [RCV004205295]	Chr8:24395777 [GRCh38] Chr8:24253290 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.746T>C (p.Met249Thr)	single nucleotide variant	not specified [RCV004170078]	Chr8:24398535 [GRCh38] Chr8:24256048 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1837G>C (p.Gly613Arg)	single nucleotide variant	not specified [RCV004073548]	Chr8:24493224 [GRCh38] Chr8:24350737 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.554A>G (p.His185Arg)	single nucleotide variant	not specified [RCV004083677]	Chr8:24397383 [GRCh38] Chr8:24254896 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2239G>A (p.Ala747Thr)	single nucleotide variant	not specified [RCV004112589]	Chr8:24507510 [GRCh38] Chr8:24365023 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.886C>T (p.Leu296Phe)	single nucleotide variant	not specified [RCV004231799]	Chr8:24485287 [GRCh38] Chr8:24342800 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1288A>G (p.Thr430Ala)	single nucleotide variant	not specified [RCV004167827]	Chr8:24332666 [GRCh38] Chr8:24190179 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.616A>G (p.Ile206Val)	single nucleotide variant	not specified [RCV004200538]	Chr8:24320275 [GRCh38] Chr8:24177788 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1583A>G (p.Asp528Gly)	single nucleotide variant	not specified [RCV004208726]	Chr8:24339481 [GRCh38] Chr8:24196994 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.986T>C (p.Ile329Thr)	single nucleotide variant	not specified [RCV004132111]	Chr8:24487212 [GRCh38] Chr8:24344725 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1009A>T (p.Met337Leu)	single nucleotide variant	not specified [RCV004157776]	Chr8:24330021 [GRCh38] Chr8:24187534 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.286C>A (p.His96Asn)	single nucleotide variant	not specified [RCV004220405]	Chr8:24394070 [GRCh38] Chr8:24251583 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2213C>T (p.Pro738Leu)	single nucleotide variant	not specified [RCV004202423]	Chr8:24507484 [GRCh38] Chr8:24364997 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2101C>G (p.Pro701Ala)	single nucleotide variant	not specified [RCV004128798]	Chr8:24351233 [GRCh38] Chr8:24208746 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.34G>A (p.Ala12Thr)	single nucleotide variant	not specified [RCV004174459]	Chr8:24384538 [GRCh38] Chr8:24242051 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1249G>A (p.Asp417Asn)	single nucleotide variant	not specified [RCV004156706]	Chr8:24489316 [GRCh38] Chr8:24346829 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1118C>T (p.Thr373Ile)	single nucleotide variant	not specified [RCV004164455]	Chr8:24331164 [GRCh38] Chr8:24188677 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1709C>T (p.Ser570Leu)	single nucleotide variant	not specified [RCV004195334]	Chr8:24341636 [GRCh38] Chr8:24199149 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1171C>T (p.Leu391Phe)	single nucleotide variant	not specified [RCV004221325]	Chr8:24489238 [GRCh38] Chr8:24346751 [GRCh37] Chr8:8p21.2	likely benign
NM_014265.6(ADAM28):c.761T>C (p.Met254Thr)	single nucleotide variant	not specified [RCV004141147]	Chr8:24323874 [GRCh38] Chr8:24181387 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1981G>A (p.Val661Met)	single nucleotide variant	not specified [RCV004210478]	Chr8:24343575 [GRCh38] Chr8:24201088 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1334T>G (p.Phe445Cys)	single nucleotide variant	not specified [RCV004165029]	Chr8:24332712 [GRCh38] Chr8:24190225 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.236A>T (p.Glu79Val)	single nucleotide variant	not specified [RCV004191249]	Chr8:24463884 [GRCh38] Chr8:24321397 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1565C>T (p.Pro522Leu)	single nucleotide variant	not specified [RCV004147882]	Chr8:24335639 [GRCh38] Chr8:24193152 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.549C>G (p.Asn183Lys)	single nucleotide variant	not specified [RCV004137235]	Chr8:24313553 [GRCh38] Chr8:24171066 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1667G>A (p.Cys556Tyr)	single nucleotide variant	not specified [RCV004212581]	Chr8:24493054 [GRCh38] Chr8:24350567 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.501T>A (p.Asn167Lys)	single nucleotide variant	not specified [RCV004171818]	Chr8:24466910 [GRCh38] Chr8:24324423 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2323G>C (p.Ala775Pro)	single nucleotide variant	not specified [RCV004176117]	Chr8:24354399 [GRCh38] Chr8:24211912 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1475G>A (p.Cys492Tyr)	single nucleotide variant	not specified [RCV004069416]	Chr8:24492021 [GRCh38] Chr8:24349534 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1325G>A (p.Cys442Tyr)	single nucleotide variant	not specified [RCV004094841]	Chr8:24490857 [GRCh38] Chr8:24348370 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1981G>A (p.Glu661Lys)	single nucleotide variant	not specified [RCV004155577]	Chr8:24500235 [GRCh38] Chr8:24357748 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1358G>T (p.Cys453Phe)	single nucleotide variant	not specified [RCV004220422]	Chr8:24332736 [GRCh38] Chr8:24190249 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1316G>A (p.Cys439Tyr)	single nucleotide variant	not specified [RCV004089985]	Chr8:24332694 [GRCh38] Chr8:24190207 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1500C>A (p.Phe500Leu)	single nucleotide variant	not specified [RCV004131684]	Chr8:24492046 [GRCh38] Chr8:24349559 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1810G>C (p.Val604Leu)	single nucleotide variant	not specified [RCV004081448]	Chr8:24493197 [GRCh38] Chr8:24350710 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.580G>A (p.Gly194Arg)	single nucleotide variant	not specified [RCV004255373]	Chr8:24397409 [GRCh38] Chr8:24254922 [GRCh37] Chr8:8p21.2	likely benign
NM_003817.4(ADAM7):c.1029G>A (p.Met343Ile)	single nucleotide variant	not specified [RCV004284774]	Chr8:24487255 [GRCh38] Chr8:24344768 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.396C>A (p.Phe132Leu)	single nucleotide variant	not specified [RCV004276236]	Chr8:24466805 [GRCh38] Chr8:24324318 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1108T>C (p.Phe370Leu)	single nucleotide variant	not specified [RCV004283330]	Chr8:24489175 [GRCh38] Chr8:24346688 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.188C>T (p.Thr63Ile)	single nucleotide variant	not specified [RCV004278721]	Chr8:24392361 [GRCh38] Chr8:24249874 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1024G>C (p.Gly342Arg)	single nucleotide variant	not specified [RCV004329361]	Chr8:24330036 [GRCh38] Chr8:24187549 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.199G>A (p.Gly67Ser)	single nucleotide variant	not specified [RCV004325879]	Chr8:24392372 [GRCh38] Chr8:24249885 [GRCh37] Chr8:8p21.2	uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	copy number loss	Microcephaly [RCV003327707]	Chr8:12721809..30183737 [GRCh38] Chr8:8p23.1-12	pathogenic
NM_014479.3(ADAMDEC1):c.514G>T (p.Val172Phe)	single nucleotide variant	not specified [RCV004338951]	Chr8:24397343 [GRCh38] Chr8:24254856 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.313T>A (p.Cys105Ser)	single nucleotide variant	not specified [RCV004338958]	Chr8:24311367 [GRCh38] Chr8:24168880 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.804A>T (p.Leu268Phe)	single nucleotide variant	not specified [RCV004336386]	Chr8:24482240 [GRCh38] Chr8:24339753 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2141A>T (p.Lys714Ile)	single nucleotide variant	not specified [RCV004352461]	Chr8:24501509 [GRCh38] Chr8:24359022 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.415T>C (p.Phe139Leu)	single nucleotide variant	not specified [RCV004360364]	Chr8:24313419 [GRCh38] Chr8:24170932 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2050G>A (p.Gly684Arg)	single nucleotide variant	not specified [RCV004339427]	Chr8:24500837 [GRCh38] Chr8:24358350 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1845G>C (p.Val615=)	single nucleotide variant	not provided [RCV003436811]	Chr8:24499238 [GRCh38] Chr8:24356751 [GRCh37] Chr8:8p21.2	likely benign
NM_014265.6(ADAM28):c.1710G>A (p.Ser570=)	single nucleotide variant	not provided [RCV003436810]	Chr8:24341637 [GRCh38] Chr8:24199150 [GRCh37] Chr8:8p21.2	likely benign
NM_014265.6(ADAM28):c.1110T>C (p.Tyr370=)	single nucleotide variant	not provided [RCV003436809]	Chr8:24331156 [GRCh38] Chr8:24188669 [GRCh37] Chr8:8p21.2	likely benign
NM_014265.6(ADAM28):c.1595A>G (p.Tyr532Cys)	single nucleotide variant	not specified [RCV004444081]	Chr8:24339493 [GRCh38] Chr8:24197006 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1923T>G (p.His641Gln)	single nucleotide variant	not specified [RCV004444093]	Chr8:24343517 [GRCh38] Chr8:24201030 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1964A>G (p.Asp655Gly)	single nucleotide variant	not specified [RCV004444099]	Chr8:24343558 [GRCh38] Chr8:24201071 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2181G>A (p.Met727Ile)	single nucleotide variant	not specified [RCV004444120]	Chr8:24351989 [GRCh38] Chr8:24209502 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.389A>G (p.Tyr130Cys)	single nucleotide variant	not specified [RCV004444149]	Chr8:24313393 [GRCh38] Chr8:24170906 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.760A>G (p.Met254Val)	single nucleotide variant	not specified [RCV004444176]	Chr8:24323873 [GRCh38] Chr8:24181386 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.904G>T (p.Ala302Ser)	single nucleotide variant	not specified [RCV004444185]	Chr8:24326567 [GRCh38] Chr8:24184080 [GRCh37] Chr8:8p21.2	likely benign
NM_014479.3(ADAMDEC1):c.1277A>G (p.His426Arg)	single nucleotide variant	not specified [RCV004439747]	Chr8:24402049 [GRCh38] Chr8:24259562 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.1373C>A (p.Thr458Asn)	single nucleotide variant	not specified [RCV004439755]	Chr8:24404055 [GRCh38] Chr8:24261568 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.733G>A (p.Val245Met)	single nucleotide variant	not specified [RCV004439808]	Chr8:24398522 [GRCh38] Chr8:24256035 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.317T>C (p.Leu106Ser)	single nucleotide variant	not specified [RCV004439771]	Chr8:24394101 [GRCh38] Chr8:24251614 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.911A>G (p.Asp304Gly)	single nucleotide variant	not specified [RCV004439818]	Chr8:24399022 [GRCh38] Chr8:24256535 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1331C>G (p.Thr444Ser)	single nucleotide variant	not specified [RCV004444056]	Chr8:24332709 [GRCh38] Chr8:24190222 [GRCh37] Chr8:8p21.2	likely benign
NM_014265.6(ADAM28):c.2225A>G (p.Asn742Ser)	single nucleotide variant	not specified [RCV004444128]	Chr8:24352033 [GRCh38] Chr8:24209546 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1136G>T (p.Ser379Ile)	single nucleotide variant	not specified [RCV004444047]	Chr8:24331182 [GRCh38] Chr8:24188695 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.749C>T (p.Ala250Val)	single nucleotide variant	not specified [RCV004444170]	Chr8:24323862 [GRCh38] Chr8:24181375 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1582G>T (p.Asp528Tyr)	single nucleotide variant	not specified [RCV004444074]	Chr8:24339480 [GRCh38] Chr8:24196993 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1963G>A (p.Asp655Asn)	single nucleotide variant	not specified [RCV004444095]	Chr8:24343557 [GRCh38] Chr8:24201070 [GRCh37] Chr8:8p21.2	likely benign
NM_014265.6(ADAM28):c.380T>C (p.Leu127Pro)	single nucleotide variant	not specified [RCV004444147]	Chr8:24311434 [GRCh38] Chr8:24168947 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.575C>T (p.Thr192Ile)	single nucleotide variant	not specified [RCV004439795]	Chr8:24397404 [GRCh38] Chr8:24254917 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.962T>C (p.Leu321Pro)	single nucleotide variant	not specified [RCV004439820]	Chr8:24399425 [GRCh38] Chr8:24256938 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1518G>A (p.Met506Ile)	single nucleotide variant	not specified [RCV004444068]	Chr8:24335592 [GRCh38] Chr8:24193105 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.539T>G (p.Leu180Trp)	single nucleotide variant	not specified [RCV004444158]	Chr8:24313543 [GRCh38] Chr8:24171056 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.505G>A (p.Glu169Lys)	single nucleotide variant	not specified [RCV004439786]	Chr8:24397334 [GRCh38] Chr8:24254847 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.791T>C (p.Ile264Thr)	single nucleotide variant	not specified [RCV004437277]	Chr8:24482227 [GRCh38] Chr8:24339740 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2041G>A (p.Val681Ile)	single nucleotide variant	not specified [RCV004437244]	Chr8:24500828 [GRCh38] Chr8:24358341 [GRCh37] Chr8:8p21.2	likely benign
NM_003817.4(ADAM7):c.2163G>C (p.Gln721His)	single nucleotide variant	not specified [RCV004437245]	Chr8:24501531 [GRCh38] Chr8:24359044 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1632C>G (p.Asn544Lys)	single nucleotide variant	not specified [RCV004437230]	Chr8:24492574 [GRCh38] Chr8:24350087 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.584T>C (p.Ile195Thr)	single nucleotide variant	not specified [RCV004437273]	Chr8:24468771 [GRCh38] Chr8:24326284 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1154A>G (p.Tyr385Cys)	single nucleotide variant	not specified [RCV004437190]	Chr8:24489221 [GRCh38] Chr8:24346734 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1178T>C (p.Ile393Thr)	single nucleotide variant	not specified [RCV004437198]	Chr8:24489245 [GRCh38] Chr8:24346758 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1236G>T (p.Glu412Asp)	single nucleotide variant	not specified [RCV004437202]	Chr8:24489303 [GRCh38] Chr8:24346816 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1457G>A (p.Arg486Lys)	single nucleotide variant	not specified [RCV004437218]	Chr8:24492003 [GRCh38] Chr8:24349516 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2026C>T (p.Leu676Phe)	single nucleotide variant	not specified [RCV004437243]	Chr8:24500813 [GRCh38] Chr8:24358326 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.301C>A (p.Pro101Thr)	single nucleotide variant	not specified [RCV004437267]	Chr8:24463949 [GRCh38] Chr8:24321462 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.32T>C (p.Leu11Ser)	single nucleotide variant	not specified [RCV004437269]	Chr8:24441140 [GRCh38] Chr8:24298653 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1741C>A (p.Pro581Thr)	single nucleotide variant	not specified [RCV004614883]	Chr8:24493128 [GRCh38] Chr8:24350641 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1367C>T (p.Ala456Val)	single nucleotide variant	not specified [RCV004614889]	Chr8:24491913 [GRCh38] Chr8:24349426 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1651C>G (p.Leu551Val)	single nucleotide variant	not specified [RCV004612706]	Chr8:24339549 [GRCh38] Chr8:24197062 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.1381G>A (p.Gly461Arg)	single nucleotide variant	not specified [RCV004615067]	Chr8:24404063 [GRCh38] Chr8:24261576 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.11G>A (p.Gly4Glu)	single nucleotide variant	not specified [RCV004615076]	Chr8:24384515 [GRCh38] Chr8:24242028 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.487A>G (p.Lys163Glu)	single nucleotide variant	not specified [RCV004615081]	Chr8:24397316 [GRCh38] Chr8:24254829 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1096C>T (p.Pro366Ser)	single nucleotide variant	not specified [RCV004614900]	Chr8:24489163 [GRCh38] Chr8:24346676 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1918A>C (p.Asn640His)	single nucleotide variant	not specified [RCV004614901]	Chr8:24499311 [GRCh38] Chr8:24356824 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1712G>C (p.Gly571Ala)	single nucleotide variant	not specified [RCV004614909]	Chr8:24493099 [GRCh38] Chr8:24350612 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.64C>A (p.Leu22Ile)	single nucleotide variant	not specified [RCV004612688]	Chr8:24299991 [GRCh38] Chr8:24157504 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.310A>G (p.Met104Val)	single nucleotide variant	not specified [RCV004614862]	Chr8:24463958 [GRCh38] Chr8:24321471 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1354C>G (p.Gln452Glu)	single nucleotide variant	not specified [RCV004614872]	Chr8:24490886 [GRCh38] Chr8:24348399 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.881A>G (p.His294Arg)	single nucleotide variant	not specified [RCV004615087]	Chr8:24398992 [GRCh38] Chr8:24256505 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2146C>A (p.Pro716Thr)	single nucleotide variant	not specified [RCV004612699]	Chr8:24351278 [GRCh38] Chr8:24208791 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2273C>A (p.Thr758Asn)	single nucleotide variant	not specified [RCV004896099]	Chr8:24353798 [GRCh38] Chr8:24211311 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1732C>T (p.Arg578Trp)	single nucleotide variant	not specified [RCV004896122]	Chr8:24341659 [GRCh38] Chr8:24199172 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.737A>T (p.Asn246Ile)	single nucleotide variant	not specified [RCV004898706]	Chr8:24323850 [GRCh38] Chr8:24181363 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1290T>G (p.Asp430Glu)	single nucleotide variant	not specified [RCV004901274]	Chr8:24490822 [GRCh38] Chr8:24348335 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1709T>G (p.Leu570Arg)	single nucleotide variant	not specified [RCV004901264]	Chr8:24493096 [GRCh38] Chr8:24350609 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.10G>C (p.Gly4Arg)	single nucleotide variant	not specified [RCV004901333]	Chr8:24441118 [GRCh38] Chr8:24298631 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.367A>G (p.Ile123Val)	single nucleotide variant	not specified [RCV004901348]	Chr8:24465753 [GRCh38] Chr8:24323266 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.335C>G (p.Ser112Cys)	single nucleotide variant	not specified [RCV004901368]	Chr8:24465721 [GRCh38] Chr8:24323234 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.847G>A (p.Ala283Thr)	single nucleotide variant	not specified [RCV004901498]	Chr8:24398958 [GRCh38] Chr8:24256471 [GRCh37] Chr8:8p21.2	likely benign
NM_003817.4(ADAM7):c.521A>T (p.Asn174Ile)	single nucleotide variant	not specified [RCV004901345]	Chr8:24466930 [GRCh38] Chr8:24324443 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1535C>T (p.Ser512Phe)	single nucleotide variant	not specified [RCV004901350]	Chr8:24492081 [GRCh38] Chr8:24349594 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2026G>A (p.Ala676Thr)	single nucleotide variant	not specified [RCV004895138]	Chr8:24349899 [GRCh38] Chr8:24207412 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.617T>C (p.Ile206Thr)	single nucleotide variant	not specified [RCV004895146]	Chr8:24320276 [GRCh38] Chr8:24177789 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1526G>T (p.Cys509Phe)	single nucleotide variant	not specified [RCV004898658]	Chr8:24335600 [GRCh38] Chr8:24193113 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.900A>T (p.Glu300Asp)	single nucleotide variant	not specified [RCV004898665]	Chr8:24326563 [GRCh38] Chr8:24184076 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.251C>T (p.Thr84Met)	single nucleotide variant	not specified [RCV004896131]	Chr8:24310186 [GRCh38] Chr8:24167699 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.865C>T (p.Arg289Cys)	single nucleotide variant	not specified [RCV004898674]	Chr8:24323978 [GRCh38] Chr8:24181491 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1696C>T (p.Leu566Phe)	single nucleotide variant	not specified [RCV004901358]	Chr8:24493083 [GRCh38] Chr8:24350596 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.839T>C (p.Val280Ala)	single nucleotide variant	not specified [RCV004901497]	Chr8:24398950 [GRCh38] Chr8:24256463 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.430G>A (p.Asp144Asn)	single nucleotide variant	not specified [RCV004901499]	Chr8:24395786 [GRCh38] Chr8:24253299 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.758A>G (p.Asn253Ser)	single nucleotide variant	not specified [RCV004901504]	Chr8:24398547 [GRCh38] Chr8:24256060 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.882C>A (p.His294Gln)	single nucleotide variant	not specified [RCV004901502]	Chr8:24398993 [GRCh38] Chr8:24256506 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.876T>G (p.Ile292Met)	single nucleotide variant	not specified [RCV004898642]	Chr8:24323989 [GRCh38] Chr8:24181502 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1791A>G (p.Ile597Met)	single nucleotide variant	not specified [RCV004898651]	Chr8:24341718 [GRCh38] Chr8:24199231 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.702G>A (p.Met234Ile)	single nucleotide variant	not specified [RCV004898715]	Chr8:24321271 [GRCh38] Chr8:24178784 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2086A>G (p.Ile696Val)	single nucleotide variant	not specified [RCV004901244]	Chr8:24500873 [GRCh38] Chr8:24358386 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.871C>A (p.Leu291Ile)	single nucleotide variant	not specified [RCV004901315]	Chr8:24482307 [GRCh38] Chr8:24339820 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.92G>A (p.Arg31His)	single nucleotide variant	not specified [RCV004901253]	Chr8:24442512 [GRCh38] Chr8:24300025 [GRCh37] Chr8:8p21.2	likely benign
NM_014479.3(ADAMDEC1):c.841C>T (p.Pro281Ser)	single nucleotide variant	not specified [RCV004901500]	Chr8:24398952 [GRCh38] Chr8:24256465 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.541G>T (p.Asp181Tyr)	single nucleotide variant	not specified [RCV004901503]	Chr8:24397370 [GRCh38] Chr8:24254883 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.1156A>G (p.Lys386Glu)	single nucleotide variant	not specified [RCV004901505]	Chr8:24401928 [GRCh38] Chr8:24259441 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1274C>T (p.Thr425Ile)	single nucleotide variant	not specified [RCV004901284]	Chr8:24490806 [GRCh38] Chr8:24348319 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.508T>G (p.Cys170Gly)	single nucleotide variant	not specified [RCV004901304]	Chr8:24466917 [GRCh38] Chr8:24324430 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1456A>G (p.Arg486Gly)	single nucleotide variant	not specified [RCV004901325]	Chr8:24492002 [GRCh38] Chr8:24349515 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1283G>A (p.Cys428Tyr)	single nucleotide variant	not specified [RCV004901295]	Chr8:24490815 [GRCh38] Chr8:24348328 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.307G>A (p.Asp103Asn)	single nucleotide variant	not specified [RCV005312511]	Chr8:24311361 [GRCh38] Chr8:24168874 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1296T>G (p.Ile432Met)	single nucleotide variant	not specified [RCV005312544]	Chr8:24332674 [GRCh38] Chr8:24190187 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.877G>A (p.Gly293Arg)	single nucleotide variant	not specified [RCV005314927]	Chr8:24485278 [GRCh38] Chr8:24342791 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1519C>T (p.Arg507Cys)	single nucleotide variant	not specified [RCV005314920]	Chr8:24492065 [GRCh38] Chr8:24349578 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.599G>A (p.Arg200Gln)	single nucleotide variant	not specified [RCV005315042]	Chr8:24397428 [GRCh38] Chr8:24254941 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1565G>A (p.Ser522Asn)	single nucleotide variant	not specified [RCV005314867]	Chr8:24492507 [GRCh38] Chr8:24350020 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.548A>T (p.Asn183Ile)	single nucleotide variant	not specified [RCV005312531]	Chr8:24313552 [GRCh38] Chr8:24171065 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.471G>T (p.Lys157Asn)	single nucleotide variant	not specified [RCV005312550]	Chr8:24313475 [GRCh38] Chr8:24170988 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.448T>G (p.Phe150Val)	single nucleotide variant	not specified [RCV005315056]	Chr8:24397277 [GRCh38] Chr8:24254790 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.547G>C (p.Asp183His)	single nucleotide variant	not specified [RCV005314861]	Chr8:24466956 [GRCh38] Chr8:24324469 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2024T>C (p.Val675Ala)	single nucleotide variant	not specified [RCV005314910]	Chr8:24500811 [GRCh38] Chr8:24358324 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.866A>G (p.Asn289Ser)	single nucleotide variant	not specified [RCV005315029]	Chr8:24398977 [GRCh38] Chr8:24256490 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.1106G>A (p.Cys369Tyr)	single nucleotide variant	not specified [RCV005315021]	Chr8:24400264 [GRCh38] Chr8:24257777 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.862G>T (p.Val288Phe)	single nucleotide variant	not specified [RCV005314898]	Chr8:24482298 [GRCh38] Chr8:24339811 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.2215G>A (p.Ala739Thr)	single nucleotide variant	not specified [RCV005319065]	Chr8:24507486 [GRCh38] Chr8:24364999 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.370T>C (p.Cys124Arg)	single nucleotide variant	not specified [RCV005318958]	Chr8:24311424 [GRCh38] Chr8:24168937 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.338A>G (p.Asn113Ser)	single nucleotide variant	not specified [RCV005318963]	Chr8:24311392 [GRCh38] Chr8:24168905 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.1869C>A (p.Asn623Lys)	single nucleotide variant	not specified [RCV005314883]	Chr8:24499262 [GRCh38] Chr8:24356775 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.620C>T (p.Ala207Val)	single nucleotide variant	not specified [RCV005314893]	Chr8:24468807 [GRCh38] Chr8:24326320 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.370T>C (p.Cys124Arg)	single nucleotide variant	not specified [RCV005315049]	Chr8:24395726 [GRCh38] Chr8:24253239 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014479.3(ADAMDEC1):c.994T>C (p.Ser332Pro)	single nucleotide variant	not specified [RCV005315066]	Chr8:24399457 [GRCh38] Chr8:24256970 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.2244+811A>G	single nucleotide variant	not provided [RCV005426797]	Chr8:24352863 [GRCh38] Chr8:24210376 [GRCh37] Chr8:8p21.2	likely benign
NM_014265.6(ADAM28):c.311A>G (p.Asp104Gly)	single nucleotide variant	not specified [RCV004895115]	Chr8:24311365 [GRCh38] Chr8:24168878 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.808C>T (p.Arg270Cys)	single nucleotide variant	not specified [RCV004437285]	Chr8:24482244 [GRCh38] Chr8:24339757 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.865G>A (p.Val289Ile)	single nucleotide variant	not specified [RCV004437287]	Chr8:24482301 [GRCh38] Chr8:24339814 [GRCh37] Chr8:8p21.2	uncertain significance
NM_003817.4(ADAM7):c.919G>A (p.Gly307Arg)	single nucleotide variant	not specified [RCV004437296]	Chr8:24485320 [GRCh38] Chr8:24342833 [GRCh37] Chr8:8p21.2	uncertain significance
NM_014265.6(ADAM28):c.1953G>T (p.Trp651Cys)	single nucleotide variant	not specified [RCV004895118]	Chr8:24343547 [GRCh38] Chr8:24201060 [GRCh37] Chr8:8p21.2	uncertain significance

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
616954052	GWAS1971551_H	FEV/FVC ratio, response to bronchodilator QTL GWAS1971551 (human)		0.0000006	lung capacity (VT:0001942)	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	8	24543135	24543136	Human
629063677	GWAS2957852_H	body height QTL GWAS2957852 (human)		1e-10	body height		8	24298691	24298692	Human
407099072	GWAS748048_H	hair colour measurement QTL GWAS748048 (human)		0.000004	hair colour measurement		8	24351334	24351335	Human
407224897	GWAS873873_H	S-warfarin measurement QTL GWAS873873 (human)		0.000006	S-warfarin measurement		8	24509529	24509530	Human
597492507	GWAS1588581_H	S-warfarin measurement QTL GWAS1588581 (human)		0.000006	S-warfarin measurement		8	24509529	24509530	Human
629054457	GWAS2948632_H	gut microbiome measurement, breastfeeding duration QTL GWAS2948632 (human)		4e-08	lactation duration (VT:1000653)		8	24336443	24336444	Human
597150878	GWAS1246952_H	body height QTL GWAS1246952 (human)		7e-08	body height		8	24298691	24298692	Human
629060212	GWAS2954387_H	body height QTL GWAS2954387 (human)		7e-08	body height		8	24298691	24298692	Human
407148362	GWAS797338_H	necrotizing enterocolitis QTL GWAS797338 (human)		0.000004	necrotizing enterocolitis		8	24323415	24323416	Human
629049584	GWAS2943759_H	body height QTL GWAS2943759 (human)		3e-08	body height		8	24350505	24350506	Human
597363726	GWAS1459800_H	FEV/FVC ratio, response to bronchodilator QTL GWAS1459800 (human)		0.0000002	FEV/FVC ratio, response to bronchodilator		8	24376842	24376843	Human
628486895	GWAS2395124_H	necrotizing enterocolitis QTL GWAS2395124 (human)		0.000004	intestine integrity trait (VT:0010554)		8	24323415	24323416	Human
597362560	GWAS1458634_H	acute myeloid leukemia QTL GWAS1458634 (human)		0.0000009	acute myeloid leukemia		8	24432731	24432732	Human
598069945	GWAS1789244_H	body height QTL GWAS1789244 (human)		7e-08	body height		8	24298691	24298692	Human
616994790	GWAS2012289_H	Cleft palate QTL GWAS2012289 (human)		0.000004	Cleft palate		8	24297141	24297142	Human
628725977	GWAS2634206_H	intercellular adhesion molecule 3 measurement QTL GWAS2634206 (human)		1e-176	intercellular adhesion molecule 3 measurement		8	24331331	24331332	Human
1298482	BP2_H	Blood pressure QTL 2 (human)	1.8		Blood pressure	diastolic	8	6953256	32953256	Human
407211751	GWAS860727_H	lipid measurement QTL GWAS860727 (human)		0.000002	lipid measurement		8	24509685	24509686	Human
598010119	GWAS1729418_H	ICAM3/NOTCH1 protein level ratio in blood QTL GWAS1729418 (human)		6e-145	ICAM3/NOTCH1 protein level ratio in blood		8	24314049	24314050	Human
616953313	GWAS1970812_H	forced expiratory volume, response to bronchodilator QTL GWAS1970812 (human)		0.0000009	lung capacity (VT:0001942)	forced expiratory volume (CMO:0000254)	8	24376842	24376843	Human
629045339	GWAS2939514_H	Cleft palate QTL GWAS2939514 (human)		0.000004	Cleft palate		8	24297141	24297142	Human
406893541	GWAS542517_H	body height QTL GWAS542517 (human)		2e-08	body height		8	24395134	24395135	Human
407146091	GWAS795067_H	Cleft palate QTL GWAS795067 (human)		0.000004	Cleft palate		8	24297141	24297142	Human
597150520	GWAS1246594_H	body height QTL GWAS1246594 (human)		1e-10	body height		8	24298691	24298692	Human
597035449	GWAS1131523_H	body height QTL GWAS1131523 (human)		2e-08	body height		8	24395134	24395135	Human
628443845	GWAS2352074_H	myocarditis, response to clozapine QTL GWAS2352074 (human)		0.0000003	myocarditis, response to clozapine		8	24543885	24543886	Human
629079756	GWAS2973931_H	gut microbiome measurement, breastfeeding duration QTL GWAS2973931 (human)		0.0000009	lactation duration (VT:1000653)		8	24336443	24336444	Human
597387433	GWAS1483507_H	forced expiratory volume, response to bronchodilator QTL GWAS1483507 (human)		0.0000009	forced expiratory volume, response to bronchodilator		8	24376842	24376843	Human
616954226	GWAS1971725_H	FEV/FVC ratio, response to bronchodilator QTL GWAS1971725 (human)		0.0000002	lung capacity (VT:0001942)	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	8	24376842	24376843	Human
1558703	SCL6_H	Serum cholesterol level QTL 1 (human)	1.2		Lipid level	HDL cholesterol	8	12468635	38468635	Human
598046749	GWAS1766048_H	body height QTL GWAS1766048 (human)		4e-27	body height		8	24349925	24349926	Human
598046750	GWAS1766049_H	body height QTL GWAS1766049 (human)		7e-43	body height		8	24491904	24491905	Human
407293178	GWAS942154_H	body height QTL GWAS942154 (human)		7e-43	body height		8	24491904	24491905	Human
628500299	GWAS2408528_H	ICAM3/NOTCH1 protein level ratio in blood QTL GWAS2408528 (human)		6e-145	ICAM3/NOTCH1 protein level ratio in blood		8	24314049	24314050	Human
625825648	GWAS2246570_H	body height QTL GWAS2246570 (human)		3e-08	body height		8	24350505	24350506	Human
407162233	GWAS811209_H	FEV/FVC ratio, response to bronchodilator QTL GWAS811209 (human)		0.0000006	FEV/FVC ratio, response to bronchodilator		8	24537750	24537751	Human
597386788	GWAS1482862_H	Cleft palate QTL GWAS1482862 (human)		0.000004	Cleft palate		8	24297141	24297142	Human
407293177	GWAS942153_H	body height QTL GWAS942153 (human)		4e-27	body height		8	24349925	24349926	Human
616545919	GWAS1942502_H	intercellular adhesion molecule 3 measurement QTL GWAS1942502 (human)		1e-176	intercellular adhesion molecule 3 measurement		8	24331331	24331332	Human
616359933	GWAS1844648_H	gut microbiome measurement, breastfeeding duration QTL GWAS1844648 (human)		4e-08	gut microbiome measurement, breastfeeding duration		8	24336443	24336444	Human
407247239	GWAS896215_H	susceptibility to scarlet fever measurement QTL GWAS896215 (human)		0.000005	susceptibility to scarlet fever measurement		8	24418002	24418003	Human
616982791	GWAS2000290_H	acute myeloid leukemia QTL GWAS2000290 (human)		7e-10	leukocyte integrity trait (VT:0010898)		8	24432731	24432732	Human
597355870	GWAS1451944_H	body height QTL GWAS1451944 (human)		4e-27	body height		8	24349925	24349926	Human
407163776	GWAS812752_H	white matter integrity QTL GWAS812752 (human)		0.000003	white matter integrity		8	24521228	24521229	Human
597386067	GWAS1482141_H	susceptibility to scarlet fever measurement QTL GWAS1482141 (human)		0.000005	susceptibility to scarlet fever measurement		8	24418002	24418003	Human
617060621	GWAS2078120_H	S-warfarin measurement QTL GWAS2078120 (human)		0.000006	S-warfarin measurement		8	24509529	24509530	Human
629064754	GWAS2958929_H	low affinity immunoglobulin epsilon Fc receptor measurement QTL GWAS2958929 (human)		5e-18	low affinity immunoglobulin epsilon Fc receptor measurement		8	24343261	24343262	Human
616982792	GWAS2000291_H	acute myeloid leukemia QTL GWAS2000291 (human)		0.0000009	leukocyte integrity trait (VT:0010898)		8	24432731	24432732	Human
406931600	GWAS580576_H	body height QTL GWAS580576 (human)		7e-08	body height		8	24298691	24298692	Human
597535436	GWAS1631510_H	body height QTL GWAS1631510 (human)		7e-43	body height		8	24491904	24491905	Human
407413914	GWAS1062890_H	body height QTL GWAS1062890 (human)		1e-10	body height		8	24298691	24298692	Human
598001782	GWAS1721081_H	body height QTL GWAS1721081 (human)		2e-08	body height		8	24395134	24395135	Human
617036051	GWAS2053550_H	lipid measurement QTL GWAS2053550 (human)		0.000002	lipid measurement		8	24509685	24509686	Human
597440713	GWAS1536787_H	amino acid measurement QTL GWAS1536787 (human)		0.000005	amino acid measurement		8	24354175	24354176	Human
597359311	GWAS1455385_H	FEV/FVC ratio, response to bronchodilator QTL GWAS1455385 (human)		0.0000006	FEV/FVC ratio, response to bronchodilator		8	24543135	24543136	Human
407381278	GWAS1030254_H	acute myeloid leukemia QTL GWAS1030254 (human)		7e-10	acute myeloid leukemia		8	24432731	24432732	Human
616963984	GWAS1981483_H	white matter integrity QTL GWAS1981483 (human)		0.000003	white matter integrity		8	24521228	24521229	Human
407381279	GWAS1030255_H	acute myeloid leukemia QTL GWAS1030255 (human)		0.0000009	acute myeloid leukemia		8	24432731	24432732	Human
616354406	GWAS1839121_H	gut microbiome measurement, breastfeeding duration QTL GWAS1839121 (human)		0.0000009	gut microbiome measurement, breastfeeding duration		8	24336443	24336444	Human
616544100	GWAS1940683_H	low affinity immunoglobulin epsilon Fc receptor measurement QTL GWAS1940683 (human)		5e-18	low affinity immunoglobulin epsilon Fc receptor measurement		8	24343261	24343262	Human
616968605	GWAS1986104_H	susceptibility to scarlet fever measurement QTL GWAS1986104 (human)		0.000005	response to bacterial infection trait (VT:0010435)		8	24418002	24418003	Human
597443008	GWAS1539082_H	lipid measurement QTL GWAS1539082 (human)		0.000002	lipid measurement		8	24509685	24509686	Human
617131944	GWAS2149443_H	body height QTL GWAS2149443 (human)		7e-43	body height		8	24491904	24491905	Human
597392760	GWAS1488834_H	hair colour measurement QTL GWAS1488834 (human)		0.000004	hair colour measurement		8	24351334	24351335	Human
597434104	GWAS1530178_H	protein measurement QTL GWAS1530178 (human)		2e-173	protein measurement		8	24331331	24331332	Human
597362559	GWAS1458633_H	acute myeloid leukemia QTL GWAS1458633 (human)		7e-10	acute myeloid leukemia		8	24432731	24432732	Human
628788124	GWAS2696353_H	protein measurement QTL GWAS2696353 (human)		2e-173	protein amount (VT:0010120)		8	24331331	24331332	Human
407419310	GWAS1068286_H	amino acid measurement QTL GWAS1068286 (human)		0.000005	amino acid measurement		8	24354175	24354176	Human
616954019	GWAS1971518_H	FEV/FVC ratio, response to bronchodilator QTL GWAS1971518 (human)		0.0000006	lung capacity (VT:0001942)	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	8	24537750	24537751	Human
617039918	GWAS2057417_H	amino acid measurement QTL GWAS2057417 (human)		0.000005	amino acid measurement		8	24354175	24354176	Human
629038228	GWAS2932403_H	S-warfarin measurement QTL GWAS2932403 (human)		0.000006	S-warfarin measurement		8	24509529	24509530	Human
629025429	GWAS2919604_H	white matter integrity QTL GWAS2919604 (human)		0.000003	brain integrity trait (VT:0010579)		8	24521228	24521229	Human
628838551	GWAS2746780_H	amino acid measurement QTL GWAS2746780 (human)		0.000005	blood amino acid amount (VT:0005311)		8	24354175	24354176	Human
597355639	GWAS1451713_H	white matter integrity QTL GWAS1451713 (human)		0.000003	white matter integrity		8	24521228	24521229	Human
629005075	GWAS2913304_H	body height QTL GWAS2913304 (human)		7e-43	body height		8	24491904	24491905	Human
597363957	GWAS1460031_H	FEV/FVC ratio, response to bronchodilator QTL GWAS1460031 (human)		0.0000006	FEV/FVC ratio, response to bronchodilator		8	24537750	24537751	Human
629005074	GWAS2913303_H	body height QTL GWAS2913303 (human)		4e-27	body height		8	24349925	24349926	Human
597394794	GWAS1490868_H	myocarditis, response to clozapine QTL GWAS1490868 (human)		0.0000003	myocarditis, response to clozapine		8	24543885	24543886	Human
407364660	GWAS1013636_H	blood protein measurement QTL GWAS1013636 (human)		6e-145	blood protein measurement		8	24314049	24314050	Human
617110716	GWAS2128215_H	low affinity immunoglobulin epsilon Fc receptor measurement QTL GWAS2128215 (human)		5e-18	low affinity immunoglobulin epsilon Fc receptor measurement		8	24343261	24343262	Human
407162032	GWAS811008_H	FEV/FVC ratio, response to bronchodilator QTL GWAS811008 (human)		0.0000006	FEV/FVC ratio, response to bronchodilator		8	24543135	24543136	Human
598068688	GWAS1787987_H	body height QTL GWAS1787987 (human)		1e-10	body height		8	24298691	24298692	Human
617049394	GWAS2066893_H	myocarditis, response to clozapine QTL GWAS2066893 (human)		0.0000003	myocarditis, response to clozapine		8	24543885	24543886	Human
407387327	GWAS1036303_H	forced expiratory volume, response to bronchodilator QTL GWAS1036303 (human)		0.0000009	forced expiratory volume, response to bronchodilator		8	24376842	24376843	Human
629061383	GWAS2955558_H	lipid measurement QTL GWAS2955558 (human)		0.000002	lipid amount (VT:0001547)	blood lipid measurement (CMO:0000050)	8	24509685	24509686	Human
597980510	GWAS1699809_H	strand of hair color QTL GWAS1699809 (human)		0.000004	strand of hair color		8	24351334	24351335	Human
597077226	GWAS1173300_H	necrotizing enterocolitis QTL GWAS1173300 (human)		0.000004	necrotizing enterocolitis		8	24323415	24323416	Human
617211701	GWAS2192141_H	low affinity immunoglobulin epsilon Fc receptor measurement QTL GWAS2192141 (human)		5e-18	low affinity immunoglobulin epsilon Fc receptor measurement		8	24343261	24343262	Human
407384116	GWAS1033092_H	myocarditis, response to clozapine QTL GWAS1033092 (human)		0.0000003	myocarditis, response to clozapine		8	24543885	24543886	Human
407163578	GWAS812554_H	FEV/FVC ratio, response to bronchodilator QTL GWAS812554 (human)		0.0000002	FEV/FVC ratio, response to bronchodilator		8	24376842	24376843	Human
597228519	GWAS1324593_H	blood protein measurement QTL GWAS1324593 (human)		6e-145	blood protein measurement		8	24314049	24314050	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences


RefSeq Transcripts	NR_125808	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC024958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC044891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC120193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD705133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA221074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OA989036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

NR_125808

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	24,295,814 - 24,548,618 (-)	NCBI
T2T-CHM13v2.0	8	24,570,916 - 24,823,540 (-)	NCBI

Sequence:

show sequence

AGAAAGAATAAGGGCGTCCTCTGAGACCCATAGGGCAACATGGAAACTTGACAGCAGCTGCCTG
CAGAATGCACATAAGGTTTTTGGCATTGTGCTTGCACTGAATAAAAGCAAGCAGCTCCAGCTTC
TCCGGGCTGCTCTTTGGACACCAGAGCCAGGCAGTCACCTAGCTGCTCTTACAGTGCATACCTG
TGTCTGAATGGTCATTTCATCCATCTGCCAGCGTCTGCAGGACAGAGCCAGCAGGTGGTGCCCT
GTGTGAGGAATGCTGCAACAGATTGTGACAAAACCCTCGAGAATGAAAGTGAAGTGACTGCGCA
CCCCGCCGTTACCGAGTAAAGGTGCCACAGAGGAGACAAATATTTTCCCTGAGCCCTCTCTCCC
AATATATTGGAAAAAATACAAGGGATACACTACTGTTATGGGACCCTGTCTTAGTCAAGTGGAA
TTAGAAGGGAGCTCTTGACCTGCCCAGTGATGCAAGATCAACAAGACAATCAGTAAGAAACGTA
CAAACATTAAGAAGAGCCTATTCAGAAAAGACAGTCTTCCAGTTACCTTATAAAGGCAAGGAAG
AACTGGTAGTTTGAAATAAAATAATTTCAAAAAGTGCTGTACCCCCTGAGTATTCTGCTGTAAT
AAGGATGAAATCCCATAAGTCAATTTTTTCTCGGGATTGTGAAGTTCACTGCACACAACCAGCC
TTATTTTACATCTCTTTCTTTTATTTCAACCATCTGGGGACTGGGCAGAAGTCATGGTCAGAGG
GGCACATATGTATTGCTTTGATGATGGGGGCAGAGAACAAACAGGAAGAACTGGGAAATGAAAA
TTGCTTTACTTCTTATATTCTGACTAGAAAGGCAACCCAAATGGGAATCATAACA

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Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	ADAM7-AS1	COSMIC
GTEx	ADAM7-AS1	GTEx
HGNC ID	HGNC:56152	ENTREZGENE
Human Proteome Map	ADAM7-AS1	Human Proteome Map
NCBI Gene	LOC101929294	ENTREZGENE
RNAcentral	URS00007E4832	RNACentral

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2022-01-17	ADAM7-AS1	ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1	LOC101929294	uncharacterized LOC101929294	Symbol and/or name change	19259463	PROVISIONAL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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