CDH6[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 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 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 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 60258	GRCh38/hg38 5p13.3(chr5:30121868-32072887)x1	C5orf22, CDH6 +22 more	Copy number loss	See cases	GUncertain significance
Select item 60259	GRCh38/hg38 5p13.3(chr5:30138275-32106743)x1	C5orf22, CDH6 +23 more	Copy number loss	See cases	GUncertain significance
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 147643	GRCh38/hg38 5p13.3(chr5:31208753-32173244)x3	C5orf22, CDH6 +17 more	Copy number gain	See cases	GPathogenic
Select item 3265325	NM_004932.4(CDH6):c.119T>C (p.Leu40Pro)	CDH6 (L40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517773	NM_004932.4(CDH6):c.167T>A (p.Met56Lys)	CDH6 (M56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248875	NM_004932.4(CDH6):c.248G>A (p.Arg83Lys)	CDH6 (R83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388214	NM_004932.4(CDH6):c.367G>A (p.Val123Ile)	CDH6 (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141316	NM_004932.4(CDH6):c.389C>T (p.Ala130Val)	CDH6 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394662	NM_004932.4(CDH6):c.415G>A (p.Val139Met)	CDH6 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265324	NM_004932.4(CDH6):c.760G>A (p.Val254Met)	CDH6 (V254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141317	NM_004932.4(CDH6):c.985A>G (p.Ile329Val)	CDH6 (I329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275622	NM_004932.4(CDH6):c.1070G>A (p.Arg357Gln)	CDH6 (R357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291160	NM_004932.4(CDH6):c.1224A>C (p.Gln408His)	CDH6 (Q408H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495349	NM_004932.4(CDH6):c.1330A>C (p.Lys444Gln)	CDH6 (K444Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225663	NM_004932.4(CDH6):c.1406G>A (p.Ser469Asn)	CDH6 (S469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528460	NM_004932.4(CDH6):c.1549C>T (p.Pro517Ser)	CDH6 (P517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141313	NM_004932.4(CDH6):c.1760G>A (p.Arg587Gln)	CDH6 (R587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141314	NM_004932.4(CDH6):c.1838C>G (p.Thr613Arg)	CDH6 (T613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489955	NM_004932.4(CDH6):c.1901C>G (p.Ala634Gly)	CDH6 (A634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542054	NM_004932.4(CDH6):c.2042A>G (p.Glu681Gly)	CDH6 (E681G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511621	NM_004932.4(CDH6):c.2056A>G (p.Asn686Asp)	CDH6 (N686D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323200	NM_004932.4(CDH6):c.2216C>T (p.Ala739Val)	CDH6 (A739V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141315	NM_004932.4(CDH6):c.2236G>T (p.Val746Leu)	CDH6 (V746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624259	NM_004932.4(CDH6):c.2243A>G (p.Asp748Gly)	CDH6 (D748G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530479	NM_004932.4(CDH6):c.2306A>G (p.Asp769Gly)	CDH6 (D769G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463125	NM_004932.4(CDH6):c.2324A>G (p.Lys775Arg)	CDH6 (K775R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265323	NM_004932.4(CDH6):c.2339T>C (p.Met780Thr)	CDH6 (M780T)	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 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	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 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	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 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563054	GRCh37/hg19 5p13.3(chr5:31002679-31214471)x3	CDH6	Copy number gain	not provided	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
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 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442782	GRCh37/hg19 5p13.3(chr5:31115730-32226629)x3	C5orf22, CDH6 +3 more	Copy number gain	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 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: 59