1749[HGNC] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	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 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 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 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 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 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	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 154517	GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1	CDH10, CDH12 +42 more	Copy number loss	See cases	GBenign
Select item 59605	GRCh38/hg38 5p14.3-14.1(chr5:23279693-26849830)x1	CDH10, LINC02211 +13 more	Copy number loss	See cases	GPathogenic
Select item 150840	GRCh38/hg38 5p14.2-14.1(chr5:23758689-26287240)x1	CDH10, LINC02211 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2350567	NM_006727.5(CDH10):c.2297G>A (p.Arg766Gln)	CDH10 (R172Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265158	NM_006727.5(CDH10):c.2243T>C (p.Leu748Pro)	CDH10 (L154P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265154	NM_006727.5(CDH10):c.2230A>G (p.Ile744Val)	CDH10 (I150V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141070	NM_006727.5(CDH10):c.2068A>G (p.Ile690Val)	CDH10 (I690V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263657	NM_006727.5(CDH10):c.2042T>C (p.Ile681Thr)	CDH10 (I681T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 772871	NM_006727.5(CDH10):c.2019C>T (p.Gly673=)	CDH10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2288550	NM_006727.5(CDH10):c.2004G>C (p.Gln668His)	CDH10 (Q74H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541669	NM_006727.5(CDH10):c.1944A>C (p.Glu648Asp)	CDH10 (E648D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1048957	NM_006727.5(CDH10):c.1885G>A (p.Val629Ile)	CDH10 (V35I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3141069	NM_006727.5(CDH10):c.1880T>C (p.Ile627Thr)	CDH10 (I33T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2655375	NM_006727.5(CDH10):c.1875G>A (p.Leu625=)	CDH10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1049918	NM_006727.5(CDH10):c.1781A>G (p.Asn594Ser)	CDH10 (N594S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3141068	NM_006727.5(CDH10):c.1750A>G (p.Ile584Val)	CDH10 (I584V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2591973	NM_006727.5(CDH10):c.1614G>C (p.Gln538His)	CDH10 (Q538H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2484814	NM_006727.5(CDH10):c.1589C>T (p.Ala530Val)	CDH10 (A530V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3265157	NM_006727.5(CDH10):c.1525A>G (p.Thr509Ala)	CDH10 (T509A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2294714	NM_006727.5(CDH10):c.1441G>A (p.Asp481Asn)	CDH10 (D481N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2655376	NM_006727.5(CDH10):c.1416C>T (p.Arg472=)	CDH10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 790016	NM_006727.5(CDH10):c.1407G>A (p.Glu469=)	CDH10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1050263	NM_006727.5(CDH10):c.1394A>G (p.Asn465Ser)	CDH10 (N465S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2266171	NM_006727.5(CDH10):c.1253T>G (p.Ile418Ser)	CDH10 (I418S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2622904	NM_006727.5(CDH10):c.1241T>C (p.Ile414Thr)	CDH10 (I414T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2550664	NM_006727.5(CDH10):c.1073G>A (p.Arg358His)	CDH10 (R358H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2604307	NM_006727.5(CDH10):c.1022G>A (p.Arg341Gln)	CDH10 (R341Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2207233	NM_006727.5(CDH10):c.1019G>A (p.Ser340Asn)	CDH10 (S340N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2379845	NM_006727.5(CDH10):c.969G>T (p.Lys323Asn)	CDH10 (K323N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343022	NM_006727.5(CDH10):c.937G>A (p.Gly313Ser)	CDH10 (G313S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141074	NM_006727.5(CDH10):c.920G>A (p.Arg307Gln)	CDH10 (R307Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3265156	NM_006727.5(CDH10):c.899A>G (p.Lys300Arg)	CDH10 (K300R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2373422	NM_006727.5(CDH10):c.874A>G (p.Lys292Glu)	CDH10 (K292E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141073	NM_006727.5(CDH10):c.832G>C (p.Val278Leu)	CDH10 (V278L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2543822	NM_006727.5(CDH10):c.827T>G (p.Leu276Arg)	CDH10 (L276R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141072	NM_006727.5(CDH10):c.802C>T (p.Arg268Cys)	CDH10 (R268C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141071	NM_006727.5(CDH10):c.637C>G (p.Pro213Ala)	CDH10 (P213A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331901	NM_006727.5(CDH10):c.544G>A (p.Val182Ile)	CDH10 (V182I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 727797	NM_006727.5(CDH10):c.510C>T (p.Pro170=)	CDH10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3265155	NM_006727.5(CDH10):c.494A>G (p.Tyr165Cys)	CDH10 (Y165C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2256949	NM_006727.5(CDH10):c.491T>C (p.Ile164Thr)	CDH10 (I164T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2342612	NM_006727.5(CDH10):c.476C>T (p.Thr159Met)	CDH10 (T159M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2230050	NM_006727.5(CDH10):c.137G>A (p.Gly46Asp)	CDH10 (G46D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141067	NM_006727.5(CDH10):c.121G>A (p.Val41Ile)	CDH10 (V41I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279482	NM_006727.5(CDH10):c.73A>G (p.Met25Val)	CDH10 (M25V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3062865	GRCh37/hg19 5p14.3-14.1(chr5:20705662-26089042)x3	CDH10, CDH12 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979510	GRCh37/hg19 5p14.3-13.3(chr5:19324003-30115028)x3	CDH9, LINC02899 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814673	GRCh37/hg19 5p14.3-14.2(chr5:22265414-24492214)x3	CDH12, CDH10 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 563051	GRCh37/hg19 5p14.3-13.3(chr5:21528945-29900961)x3	CDH12, CDH10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 523302	GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723)	CDH10, CDH12 +2 more	Copy number gain	Obesity +4 more	GUncertain significance
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443451	GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 443058	GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 442928	GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	CTNND2, DAP +67 more	Copy number loss	See cases	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic
Select item 393852	GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3	ADAMTS16, ADCY2 +39 more	Copy number gain	See cases	GPathogenic
Select item 393768	GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic

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Items: 98