ClinVar for Gene (Select 7185) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328403	NM_005658.5(TRAF1):c.806T>G (p.Phe269Cys)	TRAF1 (F147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181760	NM_005658.5(TRAF1):c.76G>A (p.Val26Ile)	TRAF1 (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181758	NM_005658.5(TRAF1):c.497G>A (p.Arg166Gln)	TRAF1 (R44Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181757	NM_005658.5(TRAF1):c.281G>A (p.Gly94Asp)	TRAF1 (G94D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181756	NM_005658.5(TRAF1):c.275G>A (p.Gly92Asp)	TRAF1 (G92D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181755	NM_005658.5(TRAF1):c.1106C>T (p.Ala369Val)	TRAF1 (A369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181754	NM_005658.5(TRAF1):c.1087C>T (p.Arg363Trp)	TRAF1 (R241W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2568850	NM_005658.5(TRAF1):c.238G>A (p.Glu80Lys)	TRAF1 (E80K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491080	NM_005658.5(TRAF1):c.352C>G (p.Leu118Val)	TRAF1 (L118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408556	NM_005658.5(TRAF1):c.287C>G (p.Ser96Cys)	TRAF1 (S96C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403745	NM_005658.5(TRAF1):c.762G>T (p.Glu254Asp)	TRAF1 (E132D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402586	NM_005658.5(TRAF1):c.1063C>T (p.Arg355Cys)	TRAF1 (R355C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391618	NM_005658.5(TRAF1):c.28C>T (p.Arg10Cys)	TRAF1 (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391074	NM_005658.5(TRAF1):c.135C>G (p.Asn45Lys)	TRAF1 (N45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387181	NM_005658.5(TRAF1):c.865G>A (p.Val289Ile)	TRAF1 (V167I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355439	NM_005658.5(TRAF1):c.677G>A (p.Arg226His)	TRAF1 (R104H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229169	NM_005658.5(TRAF1):c.364T>C (p.Phe122Leu)	TRAF1 (F122L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217597	NM_005658.5(TRAF1):c.215G>A (p.Arg72Gln)	TRAF1 (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204512	NM_005658.5(TRAF1):c.386G>A (p.Arg129Gln)	TRAF1 (R129Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 1330179	GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1	ASTN2, BRINP1 +19 more	Copy number loss	Intellectual disability, borderline +5 more	GUncertain significance
Select item 781187	NM_005658.5(TRAF1):c.927G>A (p.Leu309=)	TRAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741992	NM_005658.5(TRAF1):c.459C>T (p.Ala153=)	TRAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 403564	NM_005658.5(TRAF1):c.1020C>T (p.Pro340=)	TRAF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45