ClinVar for Gene (Select 1007) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265339	NM_016279.4(CDH9):c.2119T>G (p.Trp707Gly)	CDH9 (W707G)	Single nucleotide variant (missense variant)	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 3141350	NM_016279.4(CDH9):c.951T>A (p.Asp317Glu)	CDH9 (D317E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141349	NM_016279.4(CDH9):c.2354A>G (p.Asp785Gly)	CDH9 (D785G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141348	NM_016279.4(CDH9):c.2318G>T (p.Arg773Leu)	CDH9 (R773L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141347	NM_016279.4(CDH9):c.2020A>G (p.Ile674Val)	CDH9 (I674V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141346	NM_016279.4(CDH9):c.1556G>A (p.Arg519Gln)	CDH9 (R519Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141345	NM_016279.4(CDH9):c.140T>A (p.Met47Lys)	CDH9 (M47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141344	NM_016279.4(CDH9):c.1150A>G (p.Thr384Ala)	CDH9 (T384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141343	NM_016279.4(CDH9):c.1028A>G (p.Tyr343Cys)	CDH9 (Y343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2655377	NM_016279.4(CDH9):c.822A>G (p.Gln274=)	CDH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618539	NM_016279.4(CDH9):c.41A>G (p.Tyr14Cys)	CDH9 (Y14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611005	NM_016279.4(CDH9):c.1700C>T (p.Pro567Leu)	CDH9 (P567L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604442	NM_016279.4(CDH9):c.38C>A (p.Thr13Asn)	CDH9 (T13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602470	NM_016279.4(CDH9):c.2287G>A (p.Asp763Asn)	CDH9 (D763N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561448	NM_016279.4(CDH9):c.1112A>C (p.Lys371Thr)	CDH9 (K371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557999	NM_016279.4(CDH9):c.1829G>T (p.Gly610Val)	CDH9 (G610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532155	NM_016279.4(CDH9):c.1910A>T (p.Lys637Met)	CDH9 (K637M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525243	NM_016279.4(CDH9):c.1483T>C (p.Phe495Leu)	CDH9 (F495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509320	NM_016279.4(CDH9):c.569A>G (p.Asn190Ser)	CDH9 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492834	NM_016279.4(CDH9):c.439A>G (p.Ile147Val)	CDH9 (I147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476781	NM_016279.4(CDH9):c.704T>C (p.Val235Ala)	CDH9 (V235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475749	NM_016279.4(CDH9):c.770C>A (p.Thr257Lys)	CDH9 (T257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407000	NM_016279.4(CDH9):c.2164G>C (p.Glu722Gln)	CDH9 (E722Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402410	NM_016279.4(CDH9):c.1655G>A (p.Arg552Gln)	CDH9 (R552Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378514	NM_016279.4(CDH9):c.601A>G (p.Ile201Val)	CDH9 (I201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372996	NM_016279.4(CDH9):c.2139A>C (p.Gln713His)	CDH9 (Q713H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338424	NM_016279.4(CDH9):c.1979A>G (p.Asn660Ser)	CDH9 (N660S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337940	NM_016279.4(CDH9):c.1409G>A (p.Ser470Asn)	CDH9 (S470N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314166	NM_016279.4(CDH9):c.2221G>C (p.Glu741Gln)	CDH9 (E741Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281499	NM_016279.4(CDH9):c.1981G>A (p.Asp661Asn)	CDH9 (D661N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279419	NM_016279.4(CDH9):c.1717A>G (p.Asn573Asp)	CDH9 (N573D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279004	NM_016279.4(CDH9):c.1711T>G (p.Phe571Val)	CDH9 (F571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277997	NM_016279.4(CDH9):c.2336A>T (p.Asp779Val)	CDH9 (D779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276714	NM_016279.4(CDH9):c.1234G>T (p.Ala412Ser)	CDH9 (A412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274519	NM_016279.4(CDH9):c.122C>T (p.Thr41Ile)	CDH9 (T41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274429	NM_016279.4(CDH9):c.1376C>A (p.Thr459Lys)	CDH9 (T459K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273354	NM_016279.4(CDH9):c.2318G>A (p.Arg773His)	CDH9 (R773H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244362	NM_016279.4(CDH9):c.101G>A (p.Ser34Asn)	CDH9 (S34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229189	NM_016279.4(CDH9):c.913T>G (p.Tyr305Asp)	CDH9 (Y305D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1341059	GRCh37/hg19 5p14.1(chr5:26761647-27436994)x3	CDH9	Copy number gain	not provided	GLikely benign
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 814677	GRCh37/hg19 5p14.1(chr5:26993898-27072933)x1	CDH9	Copy number loss	not provided	GUncertain significance
Select item 791256	NM_016279.4(CDH9):c.1458G>A (p.Pro486=)	CDH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770716	NM_016279.4(CDH9):c.1808A>G (p.Glu603Gly)	CDH9 (E603G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731220	NM_016279.4(CDH9):c.1006G>A (p.Asp336Asn)	CDH9 (D336N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685204	GRCh37/hg19 5p14.1(chr5:26761647-27473808)x3	CDH9	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 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443442	GRCh37/hg19 5p14.1(chr5:26626793-27280999)x1	CDH9	Copy number loss	See cases	GUncertain significance
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 442697	GRCh37/hg19 5p14.1(chr5:26785032-27996752)x1	CDH9	Copy number loss	See cases	GUncertain significance
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 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
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 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 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 151021	GRCh38/hg38 5p14.1(chr5:26620589-27232606)x3	CDH9, LOC129389261 +1 more	Copy number gain	See cases	GLikely benign
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 148613	GRCh38/hg38 5p14.1(chr5:26789669-27321283)x4	CDH9, LOC129389262 +1 more	Copy number gain	See cases	GUncertain significance
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 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 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 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	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 144287	GRCh38/hg38 5p14.1(chr5:25801575-27125347)x3	CDH9, LOC129389261 +2 more	Copy number gain	See cases	GPathogenic
Select item 91992	NM_016279.4(CDH9):c.2202G>A (p.Ser734=)	CDH9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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

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Links from Gene

Items: 95