TRAF6[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	LOC130005558, LOC130005559 +100 more	Copy number gain	See cases	GUncertain significance
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 152867	GRCh38/hg38 11p12(chr11:36487236-40907935)x1	IFTAP, LINC01493 +22 more	Copy number loss	See cases	GUncertain significance
Select item 2509811	NM_004620.4(TRAF6):c.1258A>C (p.Ser420Arg)	TRAF6 (S420R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394580	NM_004620.4(TRAF6):c.1205G>A (p.Arg402His)	TRAF6 (R402H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320742	NM_004620.4(TRAF6):c.1072G>A (p.Gly358Ser)	TRAF6 (G358S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217062	NM_004620.4(TRAF6):c.1033G>A (p.Glu345Lys)	TRAF6 (E345K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382318	NM_004620.4(TRAF6):c.856T>C (p.Ser286Pro)	TRAF6 (S286P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206211	NM_004620.4(TRAF6):c.844G>A (p.Val282Ile)	TRAF6 (V282I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533836	NM_004620.4(TRAF6):c.586A>G (p.Met196Val)	TRAF6 (M196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2275955	NM_004620.4(TRAF6):c.580G>A (p.Ala194Thr)	TRAF6 (A194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 724565	NM_004620.4(TRAF6):c.549A>G (p.Pro183=)	TRAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745128	NM_004620.4(TRAF6):c.528T>A (p.Ile176=)	TRAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045430	NM_004620.4(TRAF6):c.479T>C (p.Met160Thr)	TRAF6 (M160T)	Single nucleotide variant (missense variant)	TRAF6-related condition	GLikely benign
Select item 1174623	NM_004620.4(TRAF6):c.448-15dup	TRAF6	Duplication (intron variant)	not specified	GBenign
Select item 2292002	NM_004620.4(TRAF6):c.430G>A (p.Glu144Lys)	TRAF6 (E144K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243529	NM_004620.4(TRAF6):c.131A>G (p.Asn44Ser)	LOC126861190, TRAF6 (N44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549644	NM_004620.4(TRAF6):c.59G>A (p.Cys20Tyr)	LOC126861190, TRAF6 (C20Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 443176	GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1	LDLRAD3, CD44 +10 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	APIP, BDNF +50 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	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

Search results

Items: 34