Related gene-specific medical variations for Gene (Select 2342) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2644329	NM_002028.4(FNTB):c.990C>T (p.Phe330=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2644328	NM_002028.4(FNTB):c.915G>A (p.Ala305=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644327	NM_002028.4(FNTB):c.672C>T (p.Gly224=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2582922	NM_002028.4(FNTB):c.209+1930A>C	CHURC1-FNTB, FNTB +2 more (Y62* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2575320	NM_002028.4(FNTB):c.606-16G>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2550573	NM_002028.4(FNTB):c.136A>T (p.Ile46Leu)	CHURC1-FNTB, FNTB (I46L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541644	NM_002028.4(FNTB):c.64C>T (p.Pro22Ser)	CHURC1-FNTB, FNTB (P22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519608	NM_002028.4(FNTB):c.26A>G (p.Tyr9Cys)	CHURC1-FNTB, FNTB (Y9C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485722	NM_002028.4(FNTB):c.85G>A (p.Glu29Lys)	CHURC1-FNTB, FNTB (E29K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397916	NM_002028.4(FNTB):c.29A>G (p.Tyr10Cys)	FNTB, CHURC1-FNTB (Y10C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1802848	NM_002028.4(FNTB):c.282+8C>A	FNTB, CHURC1-FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1692098	NM_002028.4(FNTB):c.209+1976G>T	CHURC1-FNTB, FNTB +2 more	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1245444	NM_002028.4(FNTB):c.209+1859_209+1860dup	CHURC1-FNTB, FNTB +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233970	NM_002028.4(FNTB):c.209+2165G>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233463	NM_002028.4(FNTB):c.209+1860dup	LOC126861966, MAX +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign