FXR1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 12819	NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	LINC01206, ACTL6A +44 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 791961	NM_005087.4(FXR1):c.27C>T (p.Arg9=)	FXR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2582494	NM_005087.4(FXR1):c.28G>T (p.Gly10Cys)	FXR1 (G10C)	Single nucleotide variant (missense variant +1 more)	Myopathy, congenital, with respiratory insufficiency and bone fractures	GUncertain significance
Select item 2654293	NM_005087.4(FXR1):c.30C>T (p.Gly10=)	FXR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654294	NM_005087.4(FXR1):c.36C>T (p.Asn12=)	FXR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 729241	NM_005087.4(FXR1):c.52-7C>T	FXR1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1683520	NM_005087.4(FXR1):c.80C>G (p.Ser27Cys)	FXR1 (S27C)	Single nucleotide variant (missense variant +1 more)	Delayed gross motor development +2 more	GUncertain significance
Select item 2247615	NM_005087.4(FXR1):c.95T>C (p.Phe32Ser)	FXR1 (F32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 986379	NM_005087.4(FXR1):c.247A>G (p.Lys83Glu)	FXR1 (K83E)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy	GUncertain significance
Select item 986381	NM_005087.4(FXR1):c.346A>G (p.Asn116Asp)	FXR1 (N116D +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy	GUncertain significance
Select item 713455	NM_005087.4(FXR1):c.468A>T (p.Ala156=)	FXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2555956	NM_005087.4(FXR1):c.575T>C (p.Ile192Thr)	FXR1 (I192T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320999	NM_005087.4(FXR1):c.638A>T (p.Lys213Ile)	FXR1 (K128I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777377	NM_005087.4(FXR1):c.753C>T (p.Thr251=)	FXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3280238	NM_005087.4(FXR1):c.997G>T (p.Val333Phe)	FXR1 (V248F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789725	NM_005087.4(FXR1):c.1062T>C (p.His354=)	FXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1711582	NM_005087.4(FXR1):c.1152C>T (p.Ser384=)	FXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2454923	NM_005087.4(FXR1):c.1187C>T (p.Thr396Ile)	FXR1 (T396I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097553	NM_005087.4(FXR1):c.1192G>A (p.Gly398Ser)	FXR1 (G313S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385801	NM_005087.4(FXR1):c.1307G>A (p.Arg436His)	FXR1 (R436H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443949	NM_005087.4(FXR1):c.1603+725dup	FXR1	Duplication (intron variant)	Myopathy, congenital proximal, with minicore lesions	GPathogenic
Select item 2443948	NM_005087.4(FXR1):c.1603+733dup	FXR1	Duplication (intron variant)	Myopathy, congenital proximal, with minicore lesions	GPathogenic
Select item 828055	NM_005087.4(FXR1):c.1603+733del	FXR1	Deletion (intron variant)	Multiminicore myopathy	GUncertain significance
Select item 828056	NM_005087.4(FXR1):c.1603+790_1603+793del	FXR1	Deletion (intron variant)	Myopathy, congenital, with respiratory insufficiency and bone fractures	GPathogenic
Select item 756644	NM_005087.4(FXR1):c.1685A>G (p.Lys562Arg)	FXR1 (K477R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2379211	NM_005087.4(FXR1):c.1721G>T (p.Gly574Val)	FXR1 (G489V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253534	NM_005087.4(FXR1):c.1726T>A (p.Ser576Thr)	FXR1 (S491T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3280237	NM_005087.4(FXR1):c.1741A>T (p.Asn581Tyr)	FXR1 (N581Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2357954	NM_005087.4(FXR1):c.1742A>G (p.Asn581Ser)	FXR1 (N496S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2359767	NM_005087.4(FXR1):c.1759T>C (p.Ser587Pro)	FXR1 (S587P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 996580	NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn)	FXR1 (I506N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability	GLikely pathogenic
Select item 3097554	NM_005087.4(FXR1):c.1822G>A (p.Glu608Lys)	FXR1 (E523K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2427336	NC_000003.11:g.(?_180332709)_(180707390_?)del	CCDC39, DNAJC19 +1 more	Deletion	3-methylglutaconic aciduria type 5	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986754	GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1	SOX2-OT, TTC14 +4 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980553	GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1	MRPL47, DNAJC19 +12 more	Copy number loss	not provided	GPathogenic
Select item 814502	GRCh37/hg19 3q26.33(chr3:180510432-181562798)x1	SOX2-OT, DNAJC19 +2 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 60