FKBP7[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	LOC126806421, LOC126806422 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 2607913	NM_181342.3(FKBP7):c.500A>T (p.Lys167Ile)	FKBP7 (K166I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320824	NM_181342.3(FKBP7):c.477G>A (p.Met159Ile)	FKBP7 (M158I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469767	NM_181342.3(FKBP7):c.445C>T (p.Arg149Trp)	FKBP7 (R149W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263507	NM_181342.3(FKBP7):c.416T>C (p.Ile139Thr)	FKBP7 (I139T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521907	NM_181342.3(FKBP7):c.392C>T (p.Pro131Leu)	FKBP7 (P131L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618256	NM_181342.3(FKBP7):c.334G>C (p.Val112Leu)	FKBP7 (V112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264722	NM_181342.3(FKBP7):c.313C>T (p.Pro105Ser)	FKBP7 (P105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467895	NM_181342.3(FKBP7):c.292A>G (p.Ile98Val)	FKBP7 (I98V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228294	NM_181342.3(FKBP7):c.248A>G (p.Lys83Arg)	FKBP7 (K83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523331	NM_181342.3(FKBP7):c.10A>T (p.Thr4Ser)	FKBP7 (T4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062660	GRCh37/hg19 2q31.2(chr2:179257725-180232128)x3	CCDC141, FKBP7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2425519	NC_000002.11:g.(?_178095513)_(179914668_?)dup	AGPS, CCDC141 +11 more	Duplication	not provided	GUncertain significance
Select item 2424718	NC_000002.11:g.(?_178095513)_(179914668_?)del	AGPS, CCDC141 +11 more	Deletion	not provided	GUncertain significance
Select item 2424053	NC_000002.11:g.(?_179296824)_(179914668_?)dup	CCDC141, FKBP7 +4 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2424039	NC_000002.11:g.(?_179296824)_(179518254_?)del	FKBP7, PJVK +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 979386	GRCh37/hg19 2q31.1-31.2(chr2:177542722-179538238)x3	TTC30A, TTC30B +11 more	Copy number gain	not provided	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562627	GRCh37/hg19 2q31.2(chr2:178546905-179656720)x3	OSBPL6, FKBP7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 42