Related gene-specific medical variations for Gene (Select 100528031) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617307	NM_080489.5(SDCBP2):c.493T>G (p.Ser165Ala)	FKBP1A-SDCBP2, SDCBP2 (S80A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606681	NM_080489.5(SDCBP2):c.161T>C (p.Met54Thr)	FKBP1A-SDCBP2, SDCBP2 (M54T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588816	NM_080489.5(SDCBP2):c.844C>T (p.His282Tyr)	FKBP1A-SDCBP2, SDCBP2 (H282Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555146	NM_000801.5(FKBP1A):c.288C>T (p.Ala96=)	FKBP1A, FKBP1A-SDCBP2 +1 more (H59Y)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2536208	NM_080489.5(SDCBP2):c.563C>T (p.Pro188Leu)	FKBP1A-SDCBP2, SDCBP2 (P103L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532709	NM_080489.5(SDCBP2):c.647T>G (p.Val216Gly)	FKBP1A-SDCBP2, SDCBP2 (V131G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514061	NM_080489.5(SDCBP2):c.772G>A (p.Val258Ile)	FKBP1A-SDCBP2, SDCBP2 (V173I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488032	NM_000801.5(FKBP1A):c.280C>G (p.Pro94Ala)	FKBP1A, FKBP1A-SDCBP2 +1 more (P94A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465999	NM_080489.5(SDCBP2):c.571C>T (p.Arg191Trp)	FKBP1A-SDCBP2, SDCBP2 (R106W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378637	NM_080489.5(SDCBP2):c.862T>C (p.Ser288Pro)	SDCBP2, FKBP1A-SDCBP2 (S288P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357830	NM_080489.5(SDCBP2):c.674G>T (p.Gly225Val)	SDCBP2, FKBP1A-SDCBP2 (G140V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312094	NM_080489.5(SDCBP2):c.119C>T (p.Pro40Leu)	FKBP1A-SDCBP2, SDCBP2 (P40L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270895	NM_080489.5(SDCBP2):c.812A>C (p.His271Pro)	FKBP1A-SDCBP2, SDCBP2 (H186P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267722	NM_000801.5(FKBP1A):c.28C>T (p.Pro10Ser)	FKBP1A-SDCBP2, FKBP1A (P10S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234166	NM_080489.5(SDCBP2):c.709G>C (p.Gly237Arg)	FKBP1A-SDCBP2, SDCBP2 (G152R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227398	NM_080489.5(SDCBP2):c.494C>T (p.Ser165Leu)	FKBP1A-SDCBP2, SDCBP2 (S80L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1233437	NM_000801.5(FKBP1A):c.*81A>G	FKBP1A, FKBP1A-SDCBP2 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1050161	NM_000801.5(FKBP1A):c.13G>A (p.Val5Met)	FKBP1A, FKBP1A-SDCBP2 (V5M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance