ADAMTS16[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 147751	GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3	ADAMTS16, ADAMTS16-DT +161 more	Copy number gain	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 148505	GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)x1	ADAMTS16, ADAMTS16-DT +88 more	Copy number loss	See cases	GPathogenic
Select item 58069	GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3	ADAMTS16, ADAMTS16-DT +91 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
Select item 3147561	NM_139056.4(ADAMTS16):c.14C>T (p.Ala5Val)	ADAMTS16 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655281	NM_139056.4(ADAMTS16):c.81G>T (p.Ala27=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3147549	NM_139056.4(ADAMTS16):c.101C>T (p.Ala34Val)	ADAMTS16 (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477161	NM_139056.4(ADAMTS16):c.106G>T (p.Ala36Ser)	ADAMTS16 (A36S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2324299	NM_139056.4(ADAMTS16):c.143C>T (p.Pro48Leu)	ADAMTS16 (P48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227627	NM_139056.4(ADAMTS16):c.155C>G (p.Pro52Arg)	ADAMTS16 (P52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559641	NM_139056.4(ADAMTS16):c.238A>G (p.Met80Val)	ADAMTS16, LOC126807300 (M80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353076	NM_139056.4(ADAMTS16):c.254G>A (p.Arg85Gln)	ADAMTS16, LOC126807300 (R85Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349405	NM_139056.4(ADAMTS16):c.284A>G (p.Glu95Gly)	ADAMTS16, LOC126807300 (E95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147619	NM_139056.4(ADAMTS16):c.331G>T (p.Asp111Tyr)	ADAMTS16, LOC126807300 (D111Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321171	NM_139056.4(ADAMTS16):c.460C>T (p.His154Tyr)	ADAMTS16, LOC126807300 (H154Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147653	NM_139056.4(ADAMTS16):c.520G>A (p.Glu174Lys)	ADAMTS16 (E174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147658	NM_139056.4(ADAMTS16):c.541A>G (p.Arg181Gly)	ADAMTS16 (R181G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555553	NM_139056.4(ADAMTS16):c.543G>T (p.Arg181Ser)	ADAMTS16 (R181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471667	NM_139056.4(ADAMTS16):c.550C>T (p.Pro184Ser)	ADAMTS16 (P184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366052	NM_139056.4(ADAMTS16):c.587A>G (p.Gln196Arg)	ADAMTS16 (Q196R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147671	NM_139056.4(ADAMTS16):c.607G>A (p.Val203Ile)	ADAMTS16 (V203I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2217044	NM_139056.4(ADAMTS16):c.640C>G (p.Pro214Ala)	ADAMTS16 (P214A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261077	NM_139056.4(ADAMTS16):c.709G>A (p.Asp237Asn)	ADAMTS16 (D237N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355103	NM_139056.4(ADAMTS16):c.715C>T (p.Arg239Cys)	ADAMTS16 (R239C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353259	NM_139056.4(ADAMTS16):c.812A>G (p.Tyr271Cys)	ADAMTS16 (Y271C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366451	NM_139056.4(ADAMTS16):c.835C>T (p.Arg279Cys)	ADAMTS16 (R279C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493525	NM_139056.4(ADAMTS16):c.836G>T (p.Arg279Leu)	ADAMTS16 (R279L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376628	NM_139056.4(ADAMTS16):c.923A>G (p.His308Arg)	ADAMTS16 (H308R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655282	NM_139056.4(ADAMTS16):c.964-8T>A	ADAMTS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655283	NM_139056.4(ADAMTS16):c.1071C>T (p.His357=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2387446	NM_139056.4(ADAMTS16):c.1088G>A (p.Ser363Asn)	ADAMTS16 (S363N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147557	NM_139056.4(ADAMTS16):c.1112G>A (p.Gly371Glu)	ADAMTS16 (G371E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619974	NM_139056.4(ADAMTS16):c.1374G>A (p.Met458Ile)	ADAMTS16 (M458I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308368	NM_139056.4(ADAMTS16):c.1460A>C (p.Gln487Pro)	ADAMTS16 (Q487P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312869	NM_139056.4(ADAMTS16):c.1522C>T (p.Pro508Ser)	ADAMTS16 (P508S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518816	NM_139056.4(ADAMTS16):c.1541C>T (p.Ala514Val)	ADAMTS16 (A514V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429358	NM_139056.4(ADAMTS16):c.1822_1823del (p.Ser607_His608insTer)	ADAMTS16	Deletion (nonsense +1 more)	46,XY disorder of sex development	GLikely pathogenic
Select item 2393957	NM_139056.4(ADAMTS16):c.1889G>A (p.Arg630His)	ADAMTS16 (R630H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366396	NM_139056.4(ADAMTS16):c.1895T>C (p.Leu632Pro)	ADAMTS16 (L632P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284144	NM_139056.4(ADAMTS16):c.1925G>A (p.Arg642Gln)	ADAMTS16 (R642Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309447	NM_139056.4(ADAMTS16):c.1958C>T (p.Ala653Val)	ADAMTS16 (A653V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549975	NM_139056.4(ADAMTS16):c.2044T>C (p.Tyr682His)	ADAMTS16 (Y682H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294217	NM_139056.4(ADAMTS16):c.2157A>T (p.Arg719Ser)	ADAMTS16 (R719S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771148	NM_139056.4(ADAMTS16):c.2200G>A (p.Val734Ile)	ADAMTS16 (V734I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2655284	NM_139056.4(ADAMTS16):c.2340C>T (p.Asn780=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3147575	NM_139056.4(ADAMTS16):c.2416C>T (p.Pro806Ser)	ADAMTS16 (P806S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249486	NM_139056.4(ADAMTS16):c.2423G>A (p.Arg808Gln)	ADAMTS16 (R808Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147577	NM_139056.4(ADAMTS16):c.2461T>G (p.Ser821Ala)	ADAMTS16 (S821A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147578	NM_139056.4(ADAMTS16):c.2501C>A (p.Thr834Asn)	ADAMTS16 (T834N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655285	NM_139056.4(ADAMTS16):c.2502C>A (p.Thr834=)	ADAMTS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3147579	NM_139056.4(ADAMTS16):c.2505C>A (p.Asn835Lys)	ADAMTS16 (N835K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392355	NM_139056.4(ADAMTS16):c.2575C>T (p.Arg859Cys)	ADAMTS16 (R859C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379307	NM_139056.4(ADAMTS16):c.2578T>G (p.Leu860Val)	ADAMTS16 (L860V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257242	NM_139056.4(ADAMTS16):c.2642G>A (p.Cys881Tyr)	ADAMTS16 (C881Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389649	NM_139056.4(ADAMTS16):c.2647G>A (p.Val883Met)	ADAMTS16 (V883M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329985	NM_139056.4(ADAMTS16):c.2654G>A (p.Cys885Tyr)	ADAMTS16 (C885Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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