Related gene-specific medical variations for Gene (Select 2288) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278965	NM_002014.4(FKBP4):c.1306A>T (p.Thr436Ser)	FKBP4, ITFG2-AS1 (T436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278964	NM_002014.4(FKBP4):c.1266G>C (p.Glu422Asp)	FKBP4, ITFG2-AS1 (E422D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278963	NM_002014.4(FKBP4):c.979A>T (p.Met327Leu)	FKBP4, ITFG2-AS1 (M327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278961	NM_002014.4(FKBP4):c.683G>A (p.Gly228Asp)	FKBP4, ITFG2-AS1 (G228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095321	NM_002014.4(FKBP4):c.839A>C (p.Tyr280Ser)	FKBP4, ITFG2-AS1 (Y280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095320	NM_002014.4(FKBP4):c.655G>A (p.Val219Met)	FKBP4, ITFG2-AS1 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095319	NM_002014.4(FKBP4):c.629G>A (p.Arg210His)	FKBP4, ITFG2-AS1 (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095318	NM_002014.4(FKBP4):c.575T>C (p.Ile192Thr)	FKBP4, ITFG2-AS1 (I192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095317	NM_002014.4(FKBP4):c.1195C>T (p.Arg399Trp)	FKBP4, ITFG2-AS1 (R399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095316	NM_002014.4(FKBP4):c.1169A>G (p.Lys390Arg)	FKBP4, ITFG2-AS1 (K390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095315	NM_002014.4(FKBP4):c.1016T>C (p.Ile339Thr)	FKBP4, ITFG2-AS1 (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631592	NM_002014.4(FKBP4):c.1319T>C (p.Met440Thr)	FKBP4, ITFG2-AS1 (M440T)	Single nucleotide variant (missense variant)	FKBP4-related disorder	GUncertain significance
Select item 2619921	NM_002014.4(FKBP4):c.1370C>G (p.Thr457Arg)	FKBP4, ITFG2-AS1 (T457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601410	NM_002014.4(FKBP4):c.1053C>A (p.Asn351Lys)	FKBP4, ITFG2-AS1 (N351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588489	NM_002014.4(FKBP4):c.1321A>G (p.Lys441Glu)	FKBP4, ITFG2-AS1 (K441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545035	NM_002014.4(FKBP4):c.1273G>T (p.Ala425Ser)	FKBP4, ITFG2-AS1 (A425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536416	NM_002014.4(FKBP4):c.1353C>G (p.Ser451Arg)	FKBP4, ITFG2-AS1 (S451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461420	NM_002014.4(FKBP4):c.1183G>A (p.Val395Met)	FKBP4, ITFG2-AS1 (V395M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355880	NM_002014.4(FKBP4):c.628C>T (p.Arg210Cys)	FKBP4, ITFG2-AS1 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352223	NM_002014.4(FKBP4):c.1217G>A (p.Arg406Gln)	FKBP4, ITFG2-AS1 (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344810	NM_002014.4(FKBP4):c.923A>G (p.Asn308Ser)	FKBP4, ITFG2-AS1 (N308S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338279	NM_002014.4(FKBP4):c.655G>T (p.Val219Leu)	FKBP4, ITFG2-AS1 (V219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313590	NM_002014.4(FKBP4):c.691G>T (p.Gly231Trp)	FKBP4, ITFG2-AS1 (G231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298401	NM_002014.4(FKBP4):c.850G>A (p.Gly284Ser)	FKBP4, ITFG2-AS1 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291518	NM_002014.4(FKBP4):c.1027A>G (p.Asn343Asp)	FKBP4, ITFG2-AS1 (N343D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787390	NM_002014.4(FKBP4):c.763-4G>A	FKBP4, ITFG2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786220	NM_002014.4(FKBP4):c.1362G>C (p.Gln454His)	FKBP4, ITFG2-AS1 (Q454H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768503	NM_002014.4(FKBP4):c.134A>C (p.Glu45Ala)	FKBP4, ITFG2-AS1 +1 more (E45A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 756694	NM_002014.4(FKBP4):c.1140G>A (p.Leu380=)	FKBP4, ITFG2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742970	NM_002014.4(FKBP4):c.541A>C (p.Lys181Gln)	FKBP4, ITFG2-AS1 (K181Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 741680	NM_002014.4(FKBP4):c.566G>A (p.Arg189His)	FKBP4, ITFG2-AS1 (R189H)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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Links from Gene

Items: 31