FAM47C (family with sequence similarity 47 member C)

Gene: FAM47C (family with sequence similarity 47 member C) Homo sapiens

Analyze

Symbol:

FAM47C

Name:

family with sequence similarity 47 member C

RGD ID:

1605768

HGNC Page

HGNC:25301

Description:

This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011]

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

family with sequence similarity 47, member C; putative protein FAM47C

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

LOC100421574

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	37,008,366 - 37,011,664 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	37,008,366 - 37,011,664 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	37,026,439 - 37,029,737 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	36,936,391 - 36,939,660 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	41,150,900 - 41,154,207 (+)	NCBI		Celera
Cytogenetic Map	X	p21.1	NCBI
HuRef	X	34,812,733 - 34,813,039 (+)	NCBI		HuRef
CHM1_1	X	37,057,508 - 37,060,815 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	36,604,146 - 36,607,444 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

Neurodevelopmental Disorders (IAGP)

ornithine carbamoyltransferase deficiency (IAGP)

retinitis pigmentosa 3 (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

benzo[a]pyrene (EXP)

valproic acid (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:16344560	PMID:30922974	PMID:35256949

Genomics

Comparative Map Data

FAM47C
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	37,008,366 - 37,011,664 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	37,008,366 - 37,011,664 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	37,026,439 - 37,029,737 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	36,936,391 - 36,939,660 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	41,150,900 - 41,154,207 (+)	NCBI		Celera
Cytogenetic Map	X	p21.1	NCBI
HuRef	X	34,812,733 - 34,813,039 (+)	NCBI		HuRef
CHM1_1	X	37,057,508 - 37,060,815 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	36,604,146 - 36,607,444 (+)	NCBI		T2T-CHM13v2.0

Fam47c
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	77,781,369 - 77,783,016 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	77,781,369 - 77,783,007 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	78,737,763 - 78,739,410 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	78,737,763 - 78,739,401 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	75,983,102 - 75,984,749 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	74,990,478 - 74,992,125 (+)	NCBI		MGSCv36	mm8
Celera	X	70,062,819 - 70,064,466 (+)	NCBI		Celera
Cytogenetic Map	X	B	NCBI
cM Map	X	38.35	NCBI

FAM47C
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	39,189,523 - 39,193,691 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	39,192,897 - 39,197,065 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	29,991,037 - 29,995,205 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	37,700,572 - 37,705,259 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

LOC491820
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	31,903,084 - 31,904,488 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	19,251,610 - 19,253,012 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	31,946,277 - 31,947,679 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	X	32,030,601 - 32,032,003 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	31,994,378 - 31,995,780 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	32,094,289 - 32,095,691 (-)	NCBI		UU_Cfam_GSD_1.0

LOC100624836
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	X	33,004,811 - 33,006,091 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	36,575,451 - 36,576,963 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103247710
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666056	37,530,929 - 37,534,452 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in FAM47C
62 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0	copy number loss	See cases [RCV000053080]	ChrX:31665506..37921988 [GRCh38] ChrX:31683623..37781241 [GRCh37] ChrX:31593544..37666185 [NCBI36] ChrX:Xp21.1-11.4	pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1	copy number loss	See cases [RCV000053063]	ChrX:22420237..38834728 [GRCh38] ChrX:22438354..38693981 [GRCh37] ChrX:22348275..38578925 [NCBI36] ChrX:Xp22.11-11.4	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_001013736.2(FAM47C):c.844C>T (p.Leu282Phe)	single nucleotide variant	Malignant melanoma [RCV000073181]	ChrX:37009254 [GRCh38] ChrX:37027327 [GRCh37] ChrX:36937248 [NCBI36] ChrX:Xp21.1	not provided
NM_001013736.2(FAM47C):c.1020C>T (p.Ser340=)	single nucleotide variant	Malignant melanoma [RCV000073182]	ChrX:37009430 [GRCh38] ChrX:37027503 [GRCh37] ChrX:36937424 [NCBI36] ChrX:Xp21.1	not provided
NM_001013736.2(FAM47C):c.1415C>T (p.Ser472Phe)	single nucleotide variant	Malignant melanoma [RCV000073183]	ChrX:37009825 [GRCh38] ChrX:37027898 [GRCh37] ChrX:36937819 [NCBI36] ChrX:Xp21.1	not provided
NM_001013736.2(FAM47C):c.2403G>A (p.Leu801=)	single nucleotide variant	Malignant melanoma [RCV000073184]	ChrX:37010813 [GRCh38] ChrX:37028886 [GRCh37] ChrX:36938807 [NCBI36] ChrX:Xp21.1	not provided
NM_001013736.2(FAM47C):c.2498C>T (p.Ser833Leu)	single nucleotide variant	Malignant melanoma [RCV000073185]	ChrX:37010908 [GRCh38] ChrX:37028981 [GRCh37] ChrX:36938902 [NCBI36] ChrX:Xp21.1	not provided
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	copy number loss	See cases [RCV000135299]	ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp21.1(chrX:36808326-37533431)x2	copy number gain	See cases [RCV000137483]	ChrX:36808326..37533431 [GRCh38] ChrX:36826399..37392684 [GRCh37] ChrX:36736320..37277599 [NCBI36] ChrX:Xp21.1	likely benign
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	copy number loss	See cases [RCV000138019]	ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3	copy number gain	See cases [RCV000138078]	ChrX:28234352..37850186 [GRCh38] ChrX:28252469..37709439 [GRCh37] ChrX:28162390..37594383 [NCBI36] ChrX:Xp21.3-11.4	likely pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3	copy number gain	See cases [RCV000143685]	ChrX:28218244..37855706 [GRCh38] ChrX:28236361..37714959 [GRCh37] ChrX:28146282..37599903 [NCBI36] ChrX:Xp21.3-11.4	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1	copy number loss	See cases [RCV000446005]	ChrX:36667388..44316141 [GRCh37] ChrX:Xp21.1-11.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	copy number loss	See cases [RCV000510590]	ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001013736.3(FAM47C):c.541T>C (p.Tyr181His)	single nucleotide variant	not specified [RCV004302350]	ChrX:37008951 [GRCh38] ChrX:37027024 [GRCh37] ChrX:Xp21.1	uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
GRCh37/hg19 Xp21.1(chrX:37026497-37033630)x0	copy number loss	not provided [RCV000753511]	ChrX:37026497..37033630 [GRCh37] ChrX:Xp21.1	benign
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	copy number loss	not provided [RCV001007291]	ChrX:32849282..43713387 [GRCh37] ChrX:Xp21.1-11.3	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	copy number loss	not provided [RCV000845671]	ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001013736.3(FAM47C):c.1873A>T (p.Thr625Ser)	single nucleotide variant	not specified [RCV004281917]	ChrX:37010283 [GRCh38] ChrX:37028356 [GRCh37] ChrX:Xp21.1	uncertain significance
GRCh37/hg19 Xp21.1(chrX:32419533-37487291)x1	copy number loss	not provided [RCV002473810]	ChrX:32419533..37487291 [GRCh37] ChrX:Xp21.1	pathogenic
NC_000023.10:g.(?_30326313)_(41000684_?)del	deletion	Ornithine carbamoyltransferase deficiency [RCV001033914]	ChrX:30326313..41000684 [GRCh37] ChrX:Xp21.2-11.4	pathogenic
Single allele	deletion	Retinitis pigmentosa 3 [RCV001251576]	ChrX:35820200..38547007 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
NR_171164.1(FTHL18):n.449C>T	single nucleotide variant	not provided [RCV003438052]	ChrX:37043344 [GRCh38] ChrX:37061417 [GRCh37] ChrX:Xp21.1	likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp21.1(chrX:34628048-37181355)x0	copy number loss	not provided [RCV001825212]	ChrX:34628048..37181355 [GRCh37] ChrX:Xp21.1	not provided
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001013736.3(FAM47C):c.1787C>T (p.Pro596Leu)	single nucleotide variant	not specified [RCV004304502]	ChrX:37010197 [GRCh38] ChrX:37028270 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1676G>A (p.Arg559His)	single nucleotide variant	not specified [RCV004136814]	ChrX:37010086 [GRCh38] ChrX:37028159 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.53C>A (p.Thr18Lys)	single nucleotide variant	not specified [RCV004222118]	ChrX:37008463 [GRCh38] ChrX:37026536 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.8A>T (p.Asp3Val)	single nucleotide variant	not specified [RCV004164721]	ChrX:37008418 [GRCh38] ChrX:37026491 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1894C>G (p.Pro632Ala)	single nucleotide variant	not specified [RCV004138697]	ChrX:37010304 [GRCh38] ChrX:37028377 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2967G>C (p.Lys989Asn)	single nucleotide variant	not specified [RCV004235835]	ChrX:37011377 [GRCh38] ChrX:37029450 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2755G>T (p.Asp919Tyr)	single nucleotide variant	not specified [RCV004103681]	ChrX:37011165 [GRCh38] ChrX:37029238 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.928C>G (p.Pro310Ala)	single nucleotide variant	not specified [RCV004229867]	ChrX:37009338 [GRCh38] ChrX:37027411 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1049G>C (p.Gly350Ala)	single nucleotide variant	not specified [RCV004112656]	ChrX:37009459 [GRCh38] ChrX:37027532 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1446C>A (p.Asp482Glu)	single nucleotide variant	not specified [RCV004099697]	ChrX:37009856 [GRCh38] ChrX:37027929 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.353T>A (p.Val118Glu)	single nucleotide variant	not provided [RCV003435901]\|not specified [RCV004100740]	ChrX:37008763 [GRCh38] ChrX:37026836 [GRCh37] ChrX:Xp21.1	likely benign\|uncertain significance
NM_001013736.3(FAM47C):c.121C>A (p.Pro41Thr)	single nucleotide variant	not specified [RCV004093173]	ChrX:37008531 [GRCh38] ChrX:37026604 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.987T>G (p.His329Gln)	single nucleotide variant	not specified [RCV004178264]	ChrX:37009397 [GRCh38] ChrX:37027470 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.379A>G (p.Thr127Ala)	single nucleotide variant	not specified [RCV004120808]	ChrX:37008789 [GRCh38] ChrX:37026862 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.2501G>C (p.Ser834Thr)	single nucleotide variant	not specified [RCV004241189]	ChrX:37010911 [GRCh38] ChrX:37028984 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1795C>T (p.Pro599Ser)	single nucleotide variant	not specified [RCV004161833]	ChrX:37010205 [GRCh38] ChrX:37028278 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.25C>T (p.Arg9Trp)	single nucleotide variant	not specified [RCV004071065]	ChrX:37008435 [GRCh38] ChrX:37026508 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.275G>A (p.Ser92Asn)	single nucleotide variant	not specified [RCV004085924]	ChrX:37008685 [GRCh38] ChrX:37026758 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.29C>T (p.Pro10Leu)	single nucleotide variant	not specified [RCV004071066]	ChrX:37008439 [GRCh38] ChrX:37026512 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2165G>A (p.Arg722His)	single nucleotide variant	not specified [RCV004128276]	ChrX:37010575 [GRCh38] ChrX:37028648 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.653G>A (p.Gly218Glu)	single nucleotide variant	not specified [RCV004082081]	ChrX:37009063 [GRCh38] ChrX:37027136 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.764T>C (p.Val255Ala)	single nucleotide variant	not specified [RCV004208263]	ChrX:37009174 [GRCh38] ChrX:37027247 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1564C>A (p.Leu522Ile)	single nucleotide variant	not specified [RCV004156530]	ChrX:37009974 [GRCh38] ChrX:37028047 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2492G>A (p.Gly831Asp)	single nucleotide variant	not specified [RCV004177960]	ChrX:37010902 [GRCh38] ChrX:37028975 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.240A>T (p.Lys80Asn)	single nucleotide variant	not specified [RCV004156115]	ChrX:37008650 [GRCh38] ChrX:37026723 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.607C>T (p.Pro203Ser)	single nucleotide variant	not specified [RCV004120426]	ChrX:37009017 [GRCh38] ChrX:37027090 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.803C>T (p.Ser268Phe)	single nucleotide variant	not specified [RCV004148914]	ChrX:37009213 [GRCh38] ChrX:37027286 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2497T>C (p.Ser833Pro)	single nucleotide variant	not specified [RCV004177900]	ChrX:37010907 [GRCh38] ChrX:37028980 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.2569T>A (p.Trp857Arg)	single nucleotide variant	not specified [RCV004155030]	ChrX:37010979 [GRCh38] ChrX:37029052 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.33T>G (p.Ser11Arg)	single nucleotide variant	not specified [RCV004071067]	ChrX:37008443 [GRCh38] ChrX:37026516 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1565T>A (p.Leu522His)	single nucleotide variant	not specified [RCV004228044]	ChrX:37009975 [GRCh38] ChrX:37028048 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.802T>A (p.Ser268Thr)	single nucleotide variant	not specified [RCV004241309]	ChrX:37009212 [GRCh38] ChrX:37027285 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.686C>T (p.Thr229Ile)	single nucleotide variant	not specified [RCV004221351]	ChrX:37009096 [GRCh38] ChrX:37027169 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.17C>T (p.Pro6Leu)	single nucleotide variant	not specified [RCV004071063]	ChrX:37008427 [GRCh38] ChrX:37026500 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.806A>G (p.His269Arg)	single nucleotide variant	not specified [RCV004115949]	ChrX:37009216 [GRCh38] ChrX:37027289 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1798G>A (p.Glu600Lys)	single nucleotide variant	not specified [RCV004138489]	ChrX:37010208 [GRCh38] ChrX:37028281 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.269C>G (p.Pro90Arg)	single nucleotide variant	not specified [RCV004146198]	ChrX:37008679 [GRCh38] ChrX:37026752 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2542A>G (p.Thr848Ala)	single nucleotide variant	not specified [RCV004123655]	ChrX:37010952 [GRCh38] ChrX:37029025 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.736C>T (p.Leu246Phe)	single nucleotide variant	not specified [RCV004079772]	ChrX:37009146 [GRCh38] ChrX:37027219 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1327C>A (p.Pro443Thr)	single nucleotide variant	not specified [RCV004089155]	ChrX:37009737 [GRCh38] ChrX:37027810 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1373G>T (p.Arg458Leu)	single nucleotide variant	not specified [RCV004252145]	ChrX:37009783 [GRCh38] ChrX:37027856 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1460G>A (p.Arg487His)	single nucleotide variant	not specified [RCV004264900]	ChrX:37009870 [GRCh38] ChrX:37027943 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1517G>A (p.Arg506His)	single nucleotide variant	not specified [RCV004250331]	ChrX:37009927 [GRCh38] ChrX:37028000 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1960C>T (p.Leu654Phe)	single nucleotide variant	not specified [RCV004254509]	ChrX:37010370 [GRCh38] ChrX:37028443 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2510A>C (p.Glu837Ala)	single nucleotide variant	not specified [RCV004274921]	ChrX:37010920 [GRCh38] ChrX:37028993 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1891C>T (p.Arg631Cys)	single nucleotide variant	not specified [RCV004248403]	ChrX:37010301 [GRCh38] ChrX:37028374 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1334C>T (p.Thr445Ile)	single nucleotide variant	not specified [RCV004324916]	ChrX:37009744 [GRCh38] ChrX:37027817 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.617C>T (p.Pro206Leu)	single nucleotide variant	not specified [RCV004341615]	ChrX:37009027 [GRCh38] ChrX:37027100 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.992A>C (p.His331Pro)	single nucleotide variant	not specified [RCV004339187]	ChrX:37009402 [GRCh38] ChrX:37027475 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2615T>C (p.Phe872Ser)	single nucleotide variant	not specified [RCV004353522]	ChrX:37011025 [GRCh38] ChrX:37029098 [GRCh37] ChrX:Xp21.1	uncertain significance
GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	copy number loss	not provided [RCV003483418]	ChrX:24633854..44236178 [GRCh37] ChrX:Xp22.11-11.3	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	copy number loss	not provided [RCV003483407]	ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	copy number loss	not provided [RCV003483920]	ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22	pathogenic
NM_001013736.3(FAM47C):c.1842C>T (p.Arg614=)	single nucleotide variant	not provided [RCV003438047]	ChrX:37010252 [GRCh38] ChrX:37028325 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.2236C>T (p.Arg746Trp)	single nucleotide variant	not provided [RCV003438048]\|not specified [RCV004364640]	ChrX:37010646 [GRCh38] ChrX:37028719 [GRCh37] ChrX:Xp21.1	likely benign\|uncertain significance
NR_171164.1(FTHL18):n.476C>T	single nucleotide variant	not provided [RCV003438051]	ChrX:37043317 [GRCh38] ChrX:37061390 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.2526T>C (p.Ser842=)	single nucleotide variant	not provided [RCV003438050]	ChrX:37010936 [GRCh38] ChrX:37029009 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.1785C>G (p.Pro595=)	single nucleotide variant	not provided [RCV003438046]	ChrX:37010195 [GRCh38] ChrX:37028268 [GRCh37] ChrX:Xp21.1	likely benign
NM_001013736.3(FAM47C):c.2457C>T (p.Thr819=)	single nucleotide variant	not provided [RCV003438049]	ChrX:37010867 [GRCh38] ChrX:37028940 [GRCh37] ChrX:Xp21.1	likely benign
GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	copy number loss	not specified [RCV003986212]	ChrX:33027159..39840641 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001013736.3(FAM47C):c.1676G>C (p.Arg559Pro)	single nucleotide variant	not specified [RCV004381384]	ChrX:37010086 [GRCh38] ChrX:37028159 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1318C>T (p.Pro440Ser)	single nucleotide variant	not specified [RCV004381383]	ChrX:37009728 [GRCh38] ChrX:37027801 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2423G>C (p.Arg808Pro)	single nucleotide variant	not specified [RCV004381390]	ChrX:37010833 [GRCh38] ChrX:37028906 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.632G>A (p.Arg211His)	single nucleotide variant	not specified [RCV004381394]	ChrX:37009042 [GRCh38] ChrX:37027115 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2183C>T (p.Pro728Leu)	single nucleotide variant	not specified [RCV004381387]	ChrX:37010593 [GRCh38] ChrX:37028666 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.358G>C (p.Glu120Gln)	single nucleotide variant	not specified [RCV004381393]	ChrX:37008768 [GRCh38] ChrX:37026841 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.256C>T (p.Pro86Ser)	single nucleotide variant	not specified [RCV004381392]	ChrX:37008666 [GRCh38] ChrX:37026739 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2422C>T (p.Arg808Trp)	single nucleotide variant	not specified [RCV004381388]	ChrX:37010832 [GRCh38] ChrX:37028905 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2116C>T (p.Pro706Ser)	single nucleotide variant	not specified [RCV004381386]	ChrX:37010526 [GRCh38] ChrX:37028599 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.1037C>T (p.Pro346Leu)	single nucleotide variant	not specified [RCV004381381]	ChrX:37009447 [GRCh38] ChrX:37027520 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2423G>A (p.Arg808Gln)	single nucleotide variant	not specified [RCV004381389]	ChrX:37010833 [GRCh38] ChrX:37028906 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.108G>T (p.Arg36Ser)	single nucleotide variant	not specified [RCV004381382]	ChrX:37008518 [GRCh38] ChrX:37026591 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.2003C>T (p.Pro668Leu)	single nucleotide variant	not specified [RCV004381385]	ChrX:37010413 [GRCh38] ChrX:37028486 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_001013736.3(FAM47C):c.740G>T (p.Arg247Leu)	single nucleotide variant	not specified [RCV004381395]	ChrX:37009150 [GRCh38] ChrX:37027223 [GRCh37] ChrX:Xp21.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	118
Count of miRNA genes:	115
Interacting mature miRNAs:	118
Transcripts:	ENST00000358047
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

Low

340

Below cutoff

344

417

1075

226

306

196

811

216

1714

349

821

370

398

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_021373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001013736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK125992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX842568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB082026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000358047 ⟹ ENSP00000367913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	37,008,366 - 37,011,664 (+)	Ensembl

RefSeq Acc Id:

NM_001013736 ⟹ NP_001013758

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	37,008,366 - 37,011,664 (+)	NCBI
GRCh37	X	37,026,432 - 37,029,739 (+)	RGD
Build 36	X	36,936,391 - 36,939,660 (+)	NCBI Archive
Celera	X	41,150,900 - 41,154,207 (+)	RGD
HuRef	X	34,812,733 - 34,813,039 (+)	NCBI
CHM1_1	X	37,057,508 - 37,060,815 (+)	NCBI
T2T-CHM13v2.0	X	36,604,146 - 36,607,444 (+)	NCBI

Sequence:

show sequence

AGGAACCGCGGAAACTGGAGAGGTGGCACCCCAGCGAGGGCCACCATGGGGGACCAGAGGCCGC
AGGACCGGCCCAGTTCCCCGGGCATGGACTCCACGCCCTGGTACTGTGACAAACCGCCTTCCAA
GTACTTCGCGAAGCGCAAGCACAGGCGCCTGAGGTTCCCGCCTGTGGACACCCAGAACTGGGTA
TTTGTGACGGAGGGCATGGACGACTTCCGCTACGGCTGTCAGTCTCCTGAAGATACGCTTGTTT
GTCGCCGTGACGAGTTTTTACTCCCCAAAATATCTCTCAGAGGTCCCCAAGCTGACCCCAAAAG
CAGGAAGAAAAAGCTGCTCAAGAAAGCGGCCCTGTTTTCCAAGCTCTCGCCAGCACAGCCAGCA
CGGAAGGCGTTCGTAGAGGAAGTGGAAGCCCAGCTGATGACCAAGCATCCCTTGGCCATGTACC
CCAATCTGGGAGAAGATATGCCTCCAGATCTCCTACTACAGGTACTGAAACCGCTGGACCCTGA
GAGGAAGCTGGAGGACGCAGGCTCTTGTGAGGGCCAGGAGAAGACAACTGACGAACCCACGGAG
CCTGGTAAATACCCCTGTGGGGAATTCTCCCCTCGGCCTCCCGAGACTCGGGTGTCCTGTCTCC
CCCCGGAGCCTCCCAAGACTCCGGTGTCCAGTCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTC
CCATCTCCGCCCACAGCCTCCCAAGACTCAGGTGTCCAGTCTCCACCTGGAGCCTCCAGAGACT
GGAGTGTCCCATCTCCGCCCAGAGCCTCCCAAGACTCAGGTGTCCAGTCTCCACCTGGAGCCTC
CCGAGACTGGAGTGTCCCATCTCTACCTGGAGCCTCCTGGGACTGGAGTGTCTCATCTCTGCCC
AGAGCCTCCCAAGACTCGCGTATCTCATCTCCATCGGGAGCCTCCTGAGACTGGAGTGCCTGAT
CTCTGCCTGGAGCCTCCCAAGTCACGCGTATCTCATCTCCGCCCAGAGCCTTCTGAGACTGGAG
TGTCCCATCTCCACCCAGAGCCTCCCAAGACTCTGGTGTCCAGTCTCCACCCAGAGCCTCCCGA
GACTGGAGTGTCCCATCTCTGCCCGGAACCTCCAGAGACTCGCGTATCTCCTCTCCGCCAGCTG
CCTCCCGAGGCTGGAGTGTCCCATCTCTGCCCGGAACCTCCCAAGACTCGCGTACCTCCTCTCC
GCCCAGAGACCCCCAAGAATGGAGTGTCTCCTCTCTTCCCGGAGCCTCCCAAGACTCGCATATC
TAATCTCCGCTCGGAGCCTCCCAAGATTGGAGTGTCCCATCTCTGCCTGGAGCCTCCCAAGACT
CGCGGATCTCATCTCCGCCCGGAACCTCCTGAGACTGGAGTGTCCCATCTCCGCCCAGAGCCTC
CCAAGACTCGGGTGTCCAGTCTCCACCTGGAGCCTCCTGAGACTGGAGTGTCCCATCTCTGCCC
GGAGCCTCCAGAGAAGGACGTATCTCATCTCCGCCCAGAGCCTCCCGACACTGGAGTGTCCCAT
CTCTGCCCAGAGCCCCCCAAGACACGCGTATCTCATCTCCGCCCAGAGCCTTCTGAGACTGGAG
TGTCCCATCTCCGCCCAGAGCCTCCCAAGATTCTGGTGTCCAGTCTCCACCAGGCACCTCCTGA
GAGTAGCGTATCTCATCTCCGCCCAGAGCCTCCTGAGACTGGAGTGTCCCATCTCCGCCCAGAG
CCTCCCAAGACTCGGATGTACAGTCTCCGCCCGGAGCCTCCCGATACTGGAGTGTCCCATCTCT
GCCCAGAGCCTCCCAAGACTCGGGTGTCCAGTCTCCCCCCGGAGCCCCCCGAGACTGGAGTGTC
CCATCTCTGCCCGGAGCCTCCAGAGACTCGCGTATCTCATCTCCGCCCAGAGCCTCCTGAGACT
GGAGTGTCCCATCTCCGCCCAGAGCCTCCCAAGACTCGGATGTACAGTCTCCGCCCGGAGCCTC
CCAATACTGGAGTGTCCCATCTCTGCCCAGAGCCTCCCAAGACTCGGGTGTCCAGTCTCCCCCC
GGAGCCCCCCGAGACTGGAGTGTCCCATCTCTGCCCGGAGCCTCCAGAGACTCGCGTATCTCAT
CTCCGCCCAGAGCCTCCTGAGACTGGAGTGTCCCGTCTCCACCCAGAGCCTCCCAAGACTCGGG
TGTCCAGTCTCCACGCGGAGCCTCCTGAGAGTCGCGTATCTCATCTCTGCCCGGAGCCTCCTGA
GACTGGAGTGTCCCATCTCCGCCCAGAGCCTCCCAAGCCTCGGGTTTCCAGTCTCCGCCCAGAG
CCTCTTGAGACTCGCGTATCTCATCTCCGCCCGGAGCCTCCTGAGACTGGAGTGTCCCATCTCC
ACCCAGAGCTTCCCAAGCCTCGGGTATCCAGTCTCCACCTGGAGCCTCCCAAGACTCGTCGAGT
GTCCAGTCTCCGCCTGGAGCCTCCCAAGACTGGTCGGGTGTCCAGTCTCTGCCCGGAGCCTACC
AAGACCGGAGCGTCCCATCTAAAAGAACTGTTTCAGGAAGGTACATCAAGCACAATGGAGTGTG
TTTCTGACTCTCTTCAACGTAGACACACATCGAGAAAACTCCGTGACTTCAAGTGGGCTGGAGA
CCTAGGAGTTAATGAAGAATCCATCAGCAGTCTGTTTGACTTTACCCCTGAGTGCAGAGCAACC
TATCAAGACCAAAAGAATAAGAAGGCAAACGAGTGTTCCTCAGGGCTGAAGTACAGCATGGAGC
TAGACGAAATGGATGAGGTCAAATTCTTCTCACAGGAAAAAGACTTGGACGGGAAAATCCAGAA
TGCACCAAATTCTCATAGTGCACAGCATGTGAAGATGGGGTATGGAGCATGGTACCTCAAGCCT
AAGTTGGGGAAAAAGCTAAGAAGTGATGAACCTTTGATTGACCCCAAGCTCGTACTTGAAAAGC
CTGATGAACCCGACATTCTTGACGGTCTTTATGGACCAATCGCCTTTAAGGATTTCATTCTAAG
CAAGGGCTATGAAATGCCTGGCATCATTCAAAGGCTGTTTGCCAGGAGGGGATGGACTTATGAC
TCTGTTAAGACTCCTATTCAACGTGCAATGCAAGTTTACAAGTACAAAGAAGACGTCACAGATG
CATCGGAAGAAGATTAGATGGTTTTGAATTTACTAGTTAATTGGGTATTTCTTGCTCTCATTTT
AAACATCAGTCAGAATTTATGATGACTGGCCCCAGGAATGTACAACGTTGGCAACATCTGTAAA
TTCAATACCTAATGTTTATAAATATTTCTTAATGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001013758	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAC86381	(Get FASTA)	NCBI Sequence Viewer
	CBH19279	(Get FASTA)	NCBI Sequence Viewer
	CBH30744	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000367913
	ENSP00000367913.3
GenBank Protein	Q5HY64	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001013758 ⟸ NM_001013736

- UniProtKB:

Q6ZU46 (UniProtKB/Swiss-Prot), Q5HY64 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MGDQRPQDRPSSPGMDSTPWYCDKPPSKYFAKRKHRRLRFPPVDTQNWVFVTEGMDDFRYGCQS
PEDTLVCRRDEFLLPKISLRGPQADPKSRKKKLLKKAALFSKLSPAQPARKAFVEEVEAQLMTK
HPLAMYPNLGEDMPPDLLLQVLKPLDPERKLEDAGSCEGQEKTTDEPTEPGKYPCGEFSPRPPE
TRVSCLPPEPPKTPVSSLRPEPPETGVSHLRPQPPKTQVSSLHLEPPETGVSHLRPEPPKTQVS
SLHLEPPETGVSHLYLEPPGTGVSHLCPEPPKTRVSHLHREPPETGVPDLCLEPPKSRVSHLRP
EPSETGVSHLHPEPPKTLVSSLHPEPPETGVSHLCPEPPETRVSPLRQLPPEAGVSHLCPEPPK
TRVPPLRPETPKNGVSPLFPEPPKTRISNLRSEPPKIGVSHLCLEPPKTRGSHLRPEPPETGVS
HLRPEPPKTRVSSLHLEPPETGVSHLCPEPPEKDVSHLRPEPPDTGVSHLCPEPPKTRVSHLRP
EPSETGVSHLRPEPPKILVSSLHQAPPESSVSHLRPEPPETGVSHLRPEPPKTRMYSLRPEPPD
TGVSHLCPEPPKTRVSSLPPEPPETGVSHLCPEPPETRVSHLRPEPPETGVSHLRPEPPKTRMY
SLRPEPPNTGVSHLCPEPPKTRVSSLPPEPPETGVSHLCPEPPETRVSHLRPEPPETGVSRLHP
EPPKTRVSSLHAEPPESRVSHLCPEPPETGVSHLRPEPPKPRVSSLRPEPLETRVSHLRPEPPE
TGVSHLHPELPKPRVSSLHLEPPKTRRVSSLRLEPPKTGRVSSLCPEPTKTGASHLKELFQEGT
SSTMECVSDSLQRRHTSRKLRDFKWAGDLGVNEESISSLFDFTPECRATYQDQKNKKANECSSG
LKYSMELDEMDEVKFFSQEKDLDGKIQNAPNSHSAQHVKMGYGAWYLKPKLGKKLRSDEPLIDP
KLVLEKPDEPDILDGLYGPIAFKDFILSKGYEMPGIIQRLFARRGWTYDSVKTPIQRAMQVYKY
KEDVTDASEED

hide sequence

RefSeq Acc Id:

ENSP00000367913 ⟸ ENST00000358047

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5HY64-F1-model_v2	AlphaFold	Q5HY64	1-1035	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25301	AgrOrtholog
COSMIC	FAM47C	COSMIC
Ensembl Genes	ENSG00000198173	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000358047	ENTREZGENE
	ENST00000358047.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000198173	GTEx
HGNC ID	HGNC:25301	ENTREZGENE
Human Proteome Map	FAM47C	Human Proteome Map
InterPro	FAM47	UniProtKB/Swiss-Prot
KEGG Report	hsa:442444	UniProtKB/Swiss-Prot
NCBI Gene	442444	ENTREZGENE
OMIM	301067	OMIM
PANTHER	PROTEIN FAM47B	UniProtKB/Swiss-Prot
	PROTEIN FAM47B	UniProtKB/Swiss-Prot
Pfam	FAM47	UniProtKB/Swiss-Prot
PharmGKB	PA145148924	PharmGKB
UniProt	FA47C_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6ZU46	ENTREZGENE
UniProt Secondary	Q6ZU46	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	FAM47C	family with sequence similarity 47 member C	FAM47C	family with sequence similarity 47, member C	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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