Related gene-specific medical variations for Gene (Select 1525) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135480	NM_006806.5(BTG3):c.718C>T (p.Arg240Trp)	BTG3, CXADR (R284W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135479	NM_006806.5(BTG3):c.598G>A (p.Gly200Ser)	BTG3, CXADR (G244S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135478	NM_006806.5(BTG3):c.311+696G>A	BTG3, CXADR (A142T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135477	NM_006806.5(BTG3):c.311+694C>T	BTG3, CXADR (P141L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2612305	NM_006806.5(BTG3):c.311+706T>C	BTG3, CXADR (F145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605740	NM_006806.5(BTG3):c.535T>A (p.Phe179Ile)	BTG3, CXADR (F179I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591105	NM_006806.5(BTG3):c.28T>G (p.Phe10Val)	BTG3, CXADR (F10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528034	NM_006806.5(BTG3):c.347G>C (p.Ser116Thr)	BTG3, CXADR (S116T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528033	NM_006806.5(BTG3):c.295T>C (p.Cys99Arg)	BTG3, CXADR (C99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482257	NM_006806.5(BTG3):c.491T>C (p.Val164Ala)	BTG3, CXADR (V164A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387686	NM_001338.5(CXADR):c.25C>T (p.Leu9Phe)	CXADR, LOC130066464 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283094	NM_006806.5(BTG3):c.698C>T (p.Pro233Leu)	BTG3, CXADR (P277L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283034	NM_006806.5(BTG3):c.311+646C>T	BTG3, CXADR (P125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271209	NM_006806.5(BTG3):c.488C>T (p.Ser163Leu)	BTG3, CXADR (S207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242043	NM_006806.5(BTG3):c.311+603T>C	BTG3, CXADR (C111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 979746	GRCh37/hg19 21q21.1(chr21:18132804-18945757)x3	CXADR	Copy number gain	not provided	GLikely benign