Related gene-specific medical variations for Gene (Select 2280) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278958	NM_000801.5(FKBP1A):c.303T>A (p.Asp101Glu)	FKBP1A, FKBP1A-SDCBP2 +1 more (D101E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095310	NM_000801.5(FKBP1A):c.303T>C (p.Asp101=)	FKBP1A, FKBP1A-SDCBP2 +1 more (C64R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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)	not specified	GLikely benign
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)	not specified	GUncertain significance
Select item 2267722	NM_000801.5(FKBP1A):c.28C>T (p.Pro10Ser)	FKBP1A, FKBP1A-SDCBP2 (P10S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1233437	NC_000020.11:g.1370028T>C	SDCBP2-AS1, FKBP1A +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

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