DMBT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	ATE1-AS1, BAG3 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC126861096, LOC126861097 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	ABRAXAS2, ACADSB +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130004871, LOC130004872 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	LOC130004930, LOC130004931 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC110120892, LOC110120898 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 3047751	NM_001377530.1(DMBT1):c.14C>A (p.Thr5Lys)	DMBT1 (T5K)	Single nucleotide variant (missense variant)	DMBT1-related condition	GLikely benign
Select item 3037372	NM_001377530.1(DMBT1):c.155C>G (p.Ser52Trp)	DMBT1 (S52W)	Single nucleotide variant (missense variant)	DMBT1-related condition	GBenign
Select item 3038002	NM_001377530.1(DMBT1):c.194C>T (p.Pro65Leu)	DMBT1 (P65L)	Single nucleotide variant (missense variant)	DMBT1-related condition	GLikely benign
Select item 2382455	NM_001377530.1(DMBT1):c.280G>C (p.Glu94Gln)	DMBT1 (E94Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1225238	NM_001377530.1(DMBT1):c.283+378G>A	DMBT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2312732	NM_001377530.1(DMBT1):c.295G>A (p.Gly99Ser)	DMBT1 (G99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343628	NM_001377530.1(DMBT1):c.351C>G (p.Ile117Met)	DMBT1 (I117M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327124	NM_001377530.1(DMBT1):c.362G>C (p.Gly121Ala)	DMBT1 (G121A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232837	NM_001377530.1(DMBT1):c.479G>A (p.Gly160Asp)	DMBT1 (G160D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360492	NM_001377530.1(DMBT1):c.509G>A (p.Arg170His)	DMBT1 (R170H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329904	NM_001377530.1(DMBT1):c.539G>T (p.Ser180Ile)	DMBT1 (S180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615751	NM_001377530.1(DMBT1):c.559C>A (p.Leu187Ile)	DMBT1 (L187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616473	NM_001377530.1(DMBT1):c.580G>C (p.Gly194Arg)	DMBT1 (G194R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264485	NM_001377530.1(DMBT1):c.664C>T (p.Pro222Ser)	DMBT1 (P222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542239	NM_001377530.1(DMBT1):c.724A>G (p.Arg242Gly)	DMBT1 (R242G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358329	NM_001377530.1(DMBT1):c.755G>A (p.Arg252Gln)	DMBT1 (R252Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2467633	NM_001377530.1(DMBT1):c.770C>A (p.Thr257Asn)	DMBT1 (T257N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399888	NM_001377530.1(DMBT1):c.793A>G (p.Thr265Ala)	DMBT1 (T265A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034279	NM_001377530.1(DMBT1):c.803C>T (p.Ala268Val)	DMBT1 (A268V)	Single nucleotide variant (missense variant)	DMBT1-related condition	GBenign
Select item 2521439	NM_001377530.1(DMBT1):c.857A>G (p.Asn286Ser)	DMBT1 (N286S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2490665	NM_001377530.1(DMBT1):c.875G>A (p.Gly292Asp)	DMBT1 (G292D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589890	NM_001377530.1(DMBT1):c.905G>A (p.Arg302His)	DMBT1 (R302H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548970	NM_001377530.1(DMBT1):c.947A>G (p.Asn316Ser)	DMBT1 (N316S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348035	NM_001377530.1(DMBT1):c.994A>G (p.Ile332Val)	DMBT1 (I332V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 100857	NM_001377530.1(DMBT1):c.1012T>C (p.Ser338Pro)	DMBT1 (S338P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041039	NM_001377530.1(DMBT1):c.1033+10C>T	DMBT1	Single nucleotide variant (intron variant)	DMBT1-related condition	GLikely benign
Select item 2640908	NM_001377530.1(DMBT1):c.1420+7C>T	DMBT1	Single nucleotide variant (intron variant)	DMBT1-related condition +1 more	GLikely benign
Select item 3049651	NM_001377530.1(DMBT1):c.1434C>T (p.Thr478=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	DMBT1-related condition	GLikely benign
Select item 2324562	NM_001377530.1(DMBT1):c.1451C>T (p.Ser484Leu)	DMBT1 (S474L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051350	NM_001377530.1(DMBT1):c.1459+7A>T	DMBT1	Single nucleotide variant (intron variant)	DMBT1-related condition	GLikely benign
Select item 2640909	NM_001377530.1(DMBT1):c.1494T>C (p.Asn498=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640910	NM_001377530.1(DMBT1):c.1518A>G (p.Arg506=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640911	NM_001377530.1(DMBT1):c.1530A>G (p.Leu510=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2243475	NM_001377530.1(DMBT1):c.1535G>A (p.Arg512Gln)	DMBT1 (R502Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2640912	NM_001377530.1(DMBT1):c.1548C>A (p.Gly516=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2510488	NM_001377530.1(DMBT1):c.1552G>A (p.Val518Met)	DMBT1 (V508M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640913	NM_001377530.1(DMBT1):c.1560T>C (p.Asp520=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640914	NM_001377530.1(DMBT1):c.1572C>T (p.Asp524=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640915	NM_001377530.1(DMBT1):c.1578T>C (p.Asn526=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640916	NM_001377530.1(DMBT1):c.1581T>C (p.Asp527=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640917	NM_001377530.1(DMBT1):c.1587T>C (p.Asn529=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2408651	NM_001377530.1(DMBT1):c.1625T>C (p.Leu542Ser)	DMBT1 (L532S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2488664	NM_001377530.1(DMBT1):c.1627G>C (p.Ala543Pro)	DMBT1 (A533P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488665	NM_001377530.1(DMBT1):c.1628C>T (p.Ala543Val)	DMBT1 (A543V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355714	NM_001377530.1(DMBT1):c.1637A>G (p.Asn546Ser)	DMBT1 (N546S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2352364	NM_001377530.1(DMBT1):c.1681G>A (p.Val561Met)	DMBT1 (V551M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361486	NM_001377530.1(DMBT1):c.1685G>A (p.Arg562His)	DMBT1 (R552H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672419	NM_001377530.1(DMBT1):c.1752C>G (p.Gly584=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640918	NM_001377530.1(DMBT1):c.1752_1753insAG (p.His585fs)	DMBT1 (H575fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2640919	NM_001377530.1(DMBT1):c.1755T>C (p.His585=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640920	NM_001377530.1(DMBT1):c.1784-844G>A	DMBT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2593867	NM_001377530.1(DMBT1):c.1786C>T (p.Pro596Ser)	DMBT1 (P586S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3032810	NM_001377530.1(DMBT1):c.1809G>A (p.Arg603=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	DMBT1-related condition	GLikely benign
Select item 719154	NM_001377530.1(DMBT1):c.1841G>A (p.Arg614Gln)	DMBT1 (R604Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2640921	NM_001377530.1(DMBT1):c.1902T>C (p.Asn634=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 778417	NM_001377530.1(DMBT1):c.1903G>A (p.Asp635Asn)	DMBT1 (D625N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2640922	NM_001377530.1(DMBT1):c.1905T>C (p.Asp635=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640923	NM_001377530.1(DMBT1):c.1911T>C (p.Asn637=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2336053	NM_001377530.1(DMBT1):c.1916T>C (p.Val639Ala)	DMBT1 (V629A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640924	NM_001377530.1(DMBT1):c.1946C>T (p.Thr649Met)	DMBT1 (T639M +1 more)	Single nucleotide variant (missense variant +1 more)	DMBT1-related condition +1 more	GLikely benign
Select item 2640925	NM_001377530.1(DMBT1):c.1947G>T (p.Thr649=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640926	NM_001377530.1(DMBT1):c.1971T>C (p.Phe657=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640927	NM_001377530.1(DMBT1):c.1986A>G (p.Gly662=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640928	NM_001377530.1(DMBT1):c.2001T>C (p.Asp667=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 786176	NM_001377530.1(DMBT1):c.2002G>A (p.Asp668Asn)	DMBT1 (D668N +1 more)	Single nucleotide variant (missense variant +1 more)	DMBT1-related condition +1 more	GBenign
Select item 2640929	NM_001377530.1(DMBT1):c.2004T>C (p.Asp668=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 773805	NM_001377530.1(DMBT1):c.2008C>T (p.Arg670Cys)	DMBT1 (R660C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3040062	NM_001377530.1(DMBT1):c.2009G>T (p.Arg670Leu)	DMBT1 (R660L +1 more)	Single nucleotide variant (missense variant +1 more)	DMBT1-related condition	GBenign
Select item 981807	NM_001377530.1(DMBT1):c.2018G>A (p.Gly673Glu)	DMBT1 (G663E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2640930	NM_001377530.1(DMBT1):c.2019A>C (p.Gly673=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2456928	NM_001377530.1(DMBT1):c.2051A>G (p.Asn684Ser)	DMBT1 (N684S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640931	NM_001377530.1(DMBT1):c.2067C>T (p.His689=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2275266	NM_001377530.1(DMBT1):c.2080C>T (p.His694Tyr)	DMBT1 (H694Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1444036	NM_001377530.1(DMBT1):c.2087A>T (p.Asp696Val)	DMBT1 (D696V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640932	NM_001377530.1(DMBT1):c.2088T>C (p.Asp696=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2257942	NM_001377530.1(DMBT1):c.2099T>C (p.Ile700Thr)	DMBT1 (I690T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261064	NM_001377530.1(DMBT1):c.2126C>T (p.Thr709Met)	DMBT1 (T699M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491111	NM_001377530.1(DMBT1):c.2133G>T (p.Arg711Ser)	DMBT1 (R711S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042251	NM_001377530.1(DMBT1):c.2145G>A (p.Leu715=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	DMBT1-related condition	GLikely benign
Select item 3033297	NM_001377530.1(DMBT1):c.2238A>G (p.Val746=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	DMBT1-related condition	GLikely benign
Select item 773239	NM_001377530.1(DMBT1):c.2268C>T (p.Thr756=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2640933	NM_001377530.1(DMBT1):c.2339C>T (p.Thr780Met)	DMBT1 (T770M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 768398	NM_001377530.1(DMBT1):c.2343G>A (p.Ser781=)	DMBT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2383881	NM_001377530.1(DMBT1):c.2359C>T (p.Arg787Trp)	DMBT1 (R777W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353876	NM_001377530.1(DMBT1):c.2374T>A (p.Ser792Thr)	DMBT1 (S782T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606594	NM_001377530.1(DMBT1):c.2383A>C (p.Ile795Leu)	DMBT1 (I795L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1512379	NM_001377530.1(DMBT1):c.2413C>A (p.His805Asn)	DMBT1 (H805N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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