7189[Gene ID] - ClinVar

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Items: 47

	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	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	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	ACCS, ACCSL +225 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)	not specified	GUncertain significance
Select item 2394580	NM_004620.4(TRAF6):c.1205G>A (p.Arg402His)	TRAF6 (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328434	NM_004620.4(TRAF6):c.1086G>A (p.Met362Ile)	TRAF6 (M362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328436	NM_004620.4(TRAF6):c.1084A>G (p.Met362Val)	TRAF6 (M362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320742	NM_004620.4(TRAF6):c.1072G>A (p.Gly358Ser)	TRAF6 (G358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217062	NM_004620.4(TRAF6):c.1033G>A (p.Glu345Lys)	TRAF6 (E345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382318	NM_004620.4(TRAF6):c.856T>C (p.Ser286Pro)	TRAF6 (S286P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328435	NM_004620.4(TRAF6):c.848T>C (p.Ile283Thr)	TRAF6 (I283T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206211	NM_004620.4(TRAF6):c.844G>A (p.Val282Ile)	TRAF6 (V282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181796	NM_004620.4(TRAF6):c.809T>G (p.Met270Arg)	TRAF6 (M270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328433	NM_004620.4(TRAF6):c.759G>A (p.Met253Ile)	TRAF6 (M253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350952	NM_004620.4(TRAF6):c.609C>G (p.Ile203Met)	TRAF6 (I203M)	Single nucleotide variant (missense variant)	TRAF6-related disorder	GUncertain significance
Select item 3181795	NM_004620.4(TRAF6):c.608T>C (p.Ile203Thr)	TRAF6 (I203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533836	NM_004620.4(TRAF6):c.586A>G (p.Met196Val)	TRAF6 (M196V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275955	NM_004620.4(TRAF6):c.580G>A (p.Ala194Thr)	TRAF6 (A194T)	Single nucleotide variant (missense variant)	not specified	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 3181793	NM_004620.4(TRAF6):c.520A>G (p.Ile174Val)	TRAF6 (I174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181792	NM_004620.4(TRAF6):c.481G>A (p.Asp161Asn)	TRAF6 (D161N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3045430	NM_004620.4(TRAF6):c.479T>C (p.Met160Thr)	TRAF6 (M160T)	Single nucleotide variant (missense variant)	TRAF6-related disorder	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)	not specified	GUncertain significance
Select item 3181791	NM_004620.4(TRAF6):c.342A>C (p.Glu114Asp)	TRAF6 (E114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181790	NM_004620.4(TRAF6):c.233G>A (p.Arg78Gln)	LOC126861190, TRAF6 (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243529	NM_004620.4(TRAF6):c.131A>G (p.Asn44Ser)	LOC126861190, TRAF6 (N44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328431	NM_004620.4(TRAF6):c.88G>A (p.Val30Ile)	LOC126861190, TRAF6 (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549644	NM_004620.4(TRAF6):c.59G>A (p.Cys20Tyr)	LOC126861190, TRAF6 (C20Y)	Single nucleotide variant (missense variant)	not specified	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	MAML2, MAP3K11 +955 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	MMP13, MMP20 +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	CD44, COMMD9 +10 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +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

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Items: 47