FKBP5[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 1279819	NM_004117.4(FKBP5):c.*1136G>T	FKBP5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2262338	NM_004117.4(FKBP5):c.1355A>G (p.Lys452Arg)	FKBP5 (K452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338156	NM_004117.4(FKBP5):c.1321A>G (p.Lys441Glu)	FKBP5 (K441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736551	NM_004117.4(FKBP5):c.1309G>T (p.Val437Phe)	FKBP5 (V437F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2267097	NM_004117.4(FKBP5):c.1279A>G (p.Lys427Glu)	FKBP5 (K427E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095322	NM_004117.4(FKBP5):c.1267G>A (p.Glu423Lys)	FKBP5 (E423K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313159	NM_004117.4(FKBP5):c.1216C>T (p.Arg406Cys)	FKBP5 (R406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243091	NM_004117.4(FKBP5):c.1179G>A (p.Met393Ile)	FKBP5 (M393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554798	NM_004117.4(FKBP5):c.860C>T (p.Ala287Val)	FKBP5 (A287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278966	NM_004117.4(FKBP5):c.841G>A (p.Gly281Arg)	FKBP5 (G281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338089	NM_004117.4(FKBP5):c.746G>A (p.Ser249Asn)	FKBP5, LOC129389497 (S249N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095324	NM_004117.4(FKBP5):c.724A>G (p.Ile242Val)	FKBP5 (I242V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1702945	NM_004117.4(FKBP5):c.509-10306C>T	FKBP5	Single nucleotide variant (intron variant)	Susceptibility to severe depressive disorder	GLikely risk allele
Select item 1702942	NM_004117.4(FKBP5):c.508+7498T>G	FKBP5	Single nucleotide variant (intron variant)	Susceptibility to severe depressive disorder	GLikely risk allele
Select item 2456064	NM_004117.4(FKBP5):c.479C>T (p.Ser160Leu)	FKBP5 (S160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603603	NM_004117.4(FKBP5):c.426A>C (p.Leu142Phe)	FKBP5 (L142F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284103	NM_004117.4(FKBP5):c.347C>A (p.Ala116Asp)	FKBP5 (A116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260404	NM_004117.4(FKBP5):c.307T>C (p.Cys103Arg)	FKBP5 (C103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607912	NM_004117.4(FKBP5):c.198G>T (p.Lys66Asn)	FKBP5 (K66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533787	NM_004117.4(FKBP5):c.130G>A (p.Glu44Lys)	FKBP5 (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372655	NM_004117.4(FKBP5):c.107T>C (p.Ile36Thr)	FKBP5 (I36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 638564	NM_004117.4(FKBP5):c.106-2332A>C	FKBP5	Single nucleotide variant (intron variant)	Asthma	Grisk factor
Select item 1712509	NM_004117.4(FKBP5):c.106-2636A>G	FKBP5	Single nucleotide variant (intron variant)	Post-traumatic stress disorder	GLikely risk allele
Select item 6985	NM_004117.4(FKBP5):c.106-2636=	FKBP5	Single nucleotide variant (intron variant)	+1 more	Gdrug response; risk factor
Select item 1179585	NM_004117.4(FKBP5):c.105+2542G>A	FKBP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3095325	NM_004117.4(FKBP5):c.97G>T (p.Val33Leu)	FKBP5 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095323	NM_004117.4(FKBP5):c.44C>G (p.Thr15Arg)	FKBP5 (T15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454247	NM_004117.4(FKBP5):c.38G>A (p.Ser13Asn)	FKBP5 (S13N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 779909	NM_004117.4(FKBP5):c.12T>C (p.Asp4=)	FKBP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1702947	NM_004117.4(FKBP5):c.-19-3406A>G	FKBP5	Single nucleotide variant (intron variant)	Susceptibility to severe depressive disorder	GLikely risk allele
Select item 1702944	NM_004117.4(FKBP5):c.-19-22418C>G	FKBP5	Single nucleotide variant (intron variant)	Susceptibility to severe depressive disorder	GLikely risk allele
Select item 1702946	NM_004117.4(FKBP5):c.-20+13518C>T	FKBP5	Single nucleotide variant (intron variant)	Susceptibility to severe depressive disorder	GLikely risk allele
Select item 1702943	NC_000006.12:g.35702206A>G	FKBP5	Single nucleotide variant (intron variant)	Susceptibility to severe depressive disorder	GLikely risk allele
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1010956	NC_000006.11:g.(?_35476986)_(35565181_?)dup	FKBP5, TULP1	Duplication	not provided	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 43