ClinVar for Gene (Select 1004) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3265324	NM_004932.4(CDH6):c.760G>A (p.Val254Met)	CDH6 (V254M)	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 3141317	NM_004932.4(CDH6):c.985A>G (p.Ile329Val)	CDH6 (I329V)	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 3141315	NM_004932.4(CDH6):c.2236G>T (p.Val746Leu)	CDH6 (V746L)	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 3141313	NM_004932.4(CDH6):c.1760G>A (p.Arg587Gln)	CDH6 (R587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
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 2542054	NM_004932.4(CDH6):c.2042A>G (p.Glu681Gly)	CDH6 (E681G)	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 2528460	NM_004932.4(CDH6):c.1549C>T (p.Pro517Ser)	CDH6 (P517S)	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 2511621	NM_004932.4(CDH6):c.2056A>G (p.Asn686Asp)	CDH6 (N686D)	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 2489955	NM_004932.4(CDH6):c.1901C>G (p.Ala634Gly)	CDH6 (A634G)	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 2394662	NM_004932.4(CDH6):c.415G>A (p.Val139Met)	CDH6 (V139M)	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 2323200	NM_004932.4(CDH6):c.2216C>T (p.Ala739Val)	CDH6 (A739V)	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 2275622	NM_004932.4(CDH6):c.1070G>A (p.Arg357Gln)	CDH6 (R357Q)	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 2225663	NM_004932.4(CDH6):c.1406G>A (p.Ser469Asn)	CDH6 (S469N)	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 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
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 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 147643	GRCh38/hg38 5p13.3(chr5:31208753-32173244)x3	C5orf22, CDH6 +17 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 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	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 60259	GRCh38/hg38 5p13.3(chr5:30138275-32106743)x1	C5orf22, CDH6 +23 more	Copy number loss	See cases	GUncertain significance
Select item 60258	GRCh38/hg38 5p13.3(chr5:30121868-32072887)x1	C5orf22, CDH6 +22 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59