Related gene-specific medical variations for Gene (Select 84231) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258090	NM_032271.3(TRAF7):c.1746+2dup	TRAF7	Duplication (splice donor variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 3065374	NM_032271.3(TRAF7):c.1331C>T (p.Ala444Val)	TRAF7 (A444V)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2501796	NM_032271.3(TRAF7):c.1346+3G>A	TRAF7	Single nucleotide variant (intron variant)	Laterality defect and complex congenital heart disease	GUncertain significance
Select item 2437225	NM_032271.3(TRAF7):c.1787C>T (p.Thr596Met)	TRAF7 (T596M)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2437224	NM_032271.3(TRAF7):c.584C>T (p.Ala195Val)	TRAF7 (A195V)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2437223	NM_032271.3(TRAF7):c.1660G>A (p.Val554Ile)	TRAF7 (V554I)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 1700055	NM_032271.3(TRAF7):c.1919T>C (p.Leu640Pro)	TRAF7 (L640P)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 983345	NM_032271.3(TRAF7):c.1839_1843del (p.Thr614fs)	TRAF7 (T614fs)	Microsatellite (frameshift variant)	Seizure	GUncertain significance