FANCG (FA complementation group G) - Rat Genome Database

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Gene: FANCG (FA complementation group G) Homo sapiens
Analyze
Symbol: FANCG
Name: FA complementation group G
RGD ID: 1350702
HGNC Page HGNC:3588
Description: Predicted to enable damaged DNA binding activity. Involved in mitochondrion organization and protein monoubiquitination. Located in several cellular components, including chromatin; mitochondrion; and nucleolus. Part of Fanconi anaemia nuclear complex. Implicated in Fanconi anemia; Fanconi anemia complementation group G; and pancreatic cancer. Biomarker of tongue squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA repair protein XRCC9; FAG; Fanconi anemia complementation group G; Fanconi anemia group G protein; Fanconi anemia, complementation group G; X-ray repair complementing defective repair in Chinese hamster cells 9; X-ray repair, complementing defective, in Chinese hamster, 9; XRCC9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,073,839 - 35,079,942 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl935,073,835 - 35,080,004 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,073,836 - 35,079,939 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,063,835 - 35,070,013 (-)NCBINCBI36Build 36hg18NCBI36
Build 34935,063,834 - 35,070,013NCBI
Celera935,005,802 - 35,011,980 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,029,423 - 35,035,601 (-)NCBIHuRef
CHM1_1935,073,701 - 35,079,879 (-)NCBICHM1_1
T2T-CHM13v2.0935,093,018 - 35,099,121 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of femur morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent testis  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Cataract  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Dolichocephaly  (IAGP)
Duodenal stenosis  (IAGP)
Epicanthus  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukemia  (IAGP)
Leukopenia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Neoplasm  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Ovarian neoplasm  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Scoliosis  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Sloping forehead  (IAGP)
Spina bifida  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The Fanconi anaemia group G gene FANCG is identical with XRCC9. de Winter JP, etal., Nat Genet. 1998 Nov;20(3):281-3.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor. van der Heijden MS, etal., Clin Cancer Res. 2005 Oct 15;11(20):7508-15.
8. Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. Wreesmann VB, etal., ORL J Otorhinolaryngol Relat Spec. 2007;69(4):218-25. Epub 2007 Apr 4.
Additional References at PubMed
PMID:9256465   PMID:9382107   PMID:10373536   PMID:10468603   PMID:10468606   PMID:10567393   PMID:10627486   PMID:10652215   PMID:10807541   PMID:10961856   PMID:11050007   PMID:11063725  
PMID:11093276   PMID:11157805   PMID:11161829   PMID:11167740   PMID:11181053   PMID:11297559   PMID:11401546   PMID:11438206   PMID:11739169   PMID:11750104   PMID:11756225   PMID:11918676  
PMID:12093742   PMID:12210728   PMID:12239156   PMID:12432219   PMID:12444097   PMID:12477932   PMID:12552564   PMID:12649160   PMID:12692539   PMID:12724401   PMID:12861027   PMID:12915460  
PMID:12973351   PMID:14499622   PMID:14697762   PMID:15059067   PMID:15082718   PMID:15138265   PMID:15164053   PMID:15192709   PMID:15256425   PMID:15262960   PMID:15299017   PMID:15299030  
PMID:15319283   PMID:15367677   PMID:15489334   PMID:15502827   PMID:15657175   PMID:16116422   PMID:16189514   PMID:16195237   PMID:16474167   PMID:16609022   PMID:16621732   PMID:16720839  
PMID:16889989   PMID:17010390   PMID:17060495   PMID:17082180   PMID:17289582   PMID:17396147   PMID:17671210   PMID:18174376   PMID:18212739   PMID:18550849   PMID:18950845   PMID:19064572  
PMID:19102630   PMID:19109555   PMID:19237606   PMID:19321451   PMID:19339270   PMID:19447967   PMID:19536092   PMID:19536649   PMID:19690177   PMID:19861517   PMID:19913121   PMID:19965384  
PMID:19995904   PMID:20301575   PMID:20301753   PMID:20347428   PMID:20347429   PMID:20403997   PMID:20450923   PMID:20496165   PMID:20518486   PMID:20518497   PMID:20603015   PMID:20628086  
PMID:21750350   PMID:21873635   PMID:21975120   PMID:22266823   PMID:22343915   PMID:22458338   PMID:22653977   PMID:22705371   PMID:23067021   PMID:23303816   PMID:24300640   PMID:24451376  
PMID:24910428   PMID:25132264   PMID:25464930   PMID:25477267   PMID:25703136   PMID:25814554   PMID:26264872   PMID:26496610   PMID:26673895   PMID:26871637   PMID:27107012   PMID:27449087  
PMID:27608133   PMID:27986371   PMID:28024295   PMID:28215707   PMID:28440438   PMID:28514442   PMID:29656893   PMID:29843852   PMID:30057198   PMID:31180492   PMID:31300519   PMID:31467278  
PMID:31980815   PMID:32296183   PMID:32529760   PMID:32814053   PMID:32814769   PMID:32947577   PMID:32989015   PMID:33394227   PMID:33542213   PMID:33729478   PMID:33845483   PMID:33961781  
PMID:34436527   PMID:34864095   PMID:35559673  


Genomics

Comparative Map Data
FANCG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,073,839 - 35,079,942 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl935,073,835 - 35,080,004 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,073,836 - 35,079,939 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,063,835 - 35,070,013 (-)NCBINCBI36Build 36hg18NCBI36
Build 34935,063,834 - 35,070,013NCBI
Celera935,005,802 - 35,011,980 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,029,423 - 35,035,601 (-)NCBIHuRef
CHM1_1935,073,701 - 35,079,879 (-)NCBICHM1_1
T2T-CHM13v2.0935,093,018 - 35,099,121 (-)NCBIT2T-CHM13v2.0
Fancg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,002,337 - 43,010,567 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl443,002,343 - 43,010,506 (-)EnsemblGRCm39 Ensembl
GRCm38443,002,337 - 43,010,567 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,002,343 - 43,010,506 (-)EnsemblGRCm38mm10GRCm38
MGSCv37443,015,209 - 43,023,173 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,024,046 - 43,031,210 (-)NCBIMGSCv36mm8
Celera443,032,492 - 43,040,378 (-)NCBICelera
Cytogenetic Map4A5NCBI
Fancg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2557,230,287 - 57,240,067 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl557,231,685 - 57,240,029 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0558,448,060 - 58,456,416 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,448,822 - 58,455,819 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0562,974,576 - 62,982,169 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,494,640 - 59,501,785 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera555,821,014 - 55,828,787 (-)NCBICelera
Cytogenetic Map5q22NCBI
Fancg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,098,839 - 1,104,911 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,097,986 - 1,105,836 (+)NCBIChiLan1.0ChiLan1.0
FANCG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1989,516,209 - 89,521,944 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0934,924,399 - 34,931,077 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1935,730,176 - 35,736,648 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,730,176 - 35,736,648 (-)Ensemblpanpan1.1panPan2
FANCG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,652,939 - 51,659,766 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,652,944 - 51,659,751 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,221,745 - 50,228,574 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01152,718,404 - 52,725,238 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1152,718,405 - 52,725,223 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11151,262,486 - 51,269,312 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01151,247,632 - 51,254,447 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01151,949,490 - 51,956,319 (-)NCBIUU_Cfam_GSD_1.0
Fancg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,556,295 - 166,562,735 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365243,104,176 - 3,109,779 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365243,103,912 - 3,110,246 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FANCG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,871,075 - 235,877,974 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,871,073 - 235,879,604 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21263,531,711 - 263,538,609 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FANCG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,537,817 - 45,544,038 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1245,538,303 - 45,543,766 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603842,654,533 - 42,660,809 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fancg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624915272,605 - 278,145 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624915271,166 - 278,608 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FANCG
615 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
FANCG, IVS13, G-C, -1 single nucleotide variant Fanconi anemia, complementation group G [RCV000007105] Chr9:9p13 pathogenic
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) deletion Fanconi anemia [RCV001057950]|Fanconi anemia complementation group G [RCV000007111]|not provided [RCV002253196] Chr9:35077267..35077273 [GRCh38]
Chr9:35077264..35077270 [GRCh37]
Chr9:9p13.3		 pathogenic
Single allele duplication Fanconi anemia [RCV000546533] Chr9:35074102..35079530 [GRCh38]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.345A>G (p.Glu115=) single nucleotide variant Fanconi anemia [RCV000549807] Chr9:35078306 [GRCh38]
Chr9:35078303 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln) indel Fanconi anemia [RCV000528579] Chr9:35077387..35077390 [GRCh38]
Chr9:35077384..35077387 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) single nucleotide variant Fanconi anemia [RCV000706520]|Fanconi anemia complementation group G [RCV000007104]|not provided [RCV001091823] Chr9:35078338 [GRCh38]
Chr9:35078335 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.307+1G>C single nucleotide variant Fanconi anemia [RCV001037690]|Fanconi anemia complementation group G [RCV000007106] Chr9:35078604 [GRCh38]
Chr9:35078601 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) single nucleotide variant Fanconi anemia [RCV000791560]|Fanconi anemia complementation group G [RCV000007107] Chr9:35076442 [GRCh38]
Chr9:35076439 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.925-2A>G single nucleotide variant Fanconi anemia complementation group G [RCV000007108] Chr9:35076585 [GRCh38]
Chr9:35076582 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1480+1G>C single nucleotide variant Fanconi anemia [RCV000630837]|Fanconi anemia complementation group G [RCV000007109]|not provided [RCV001564939] Chr9:35075278 [GRCh38]
Chr9:35075275 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) deletion Fanconi anemia [RCV000700011]|Fanconi anemia complementation group G [RCV000007110]|not provided [RCV002293408] Chr9:35074173..35074182 [GRCh38]
Chr9:35074170..35074179 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) deletion Fanconi anemia complementation group G [RCV000034123] Chr9:35075706..35075715 [GRCh38]
Chr9:35075703..35075712 [GRCh37]
Chr9:9p13.3		 pathogenic|not provided
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004629.2(FANCG):c.-1C>T single nucleotide variant Fanconi anemia complementation group G [RCV001166631]|not specified [RCV000122404] Chr9:35079525 [GRCh38]
Chr9:35079522 [GRCh37]
Chr9:9p13.3		 uncertain significance|not provided
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) single nucleotide variant Fanconi anemia [RCV000860702]|Fanconi anemia complementation group G [RCV001166629]|not specified [RCV000121031] Chr9:35079448 [GRCh38]
Chr9:35079445 [GRCh37]
Chr9:9p13.3		 benign|likely benign|not provided
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) single nucleotide variant Fanconi anemia [RCV000227360]|Fanconi anemia complementation group G [RCV001166630]|not provided [RCV002262715]|not specified [RCV000121032] Chr9:35079505 [GRCh38]
Chr9:35079502 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004629.2(FANCG):c.1366del (p.His456fs) deletion not specified [RCV000121033] Chr9:35075532 [GRCh38]
Chr9:35075529 [GRCh37]
Chr9:9p13.3		 not provided
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) single nucleotide variant Fanconi anemia [RCV000630846]|Fanconi anemia complementation group G [RCV001271366]|Ovarian cancer [RCV003153395]|not provided [RCV001507747]|not specified [RCV000121034] Chr9:35075741 [GRCh38]
Chr9:35075738 [GRCh37]
Chr9:9p13.3		 benign|likely benign|uncertain significance|not provided
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000353275]|Fanconi anemia [RCV000229666]|Fanconi anemia complementation group G [RCV001168311]|Inclusion Body Myopathy, Dominant [RCV000317116]|not provided [RCV001194965]|not specified [RCV000121035] Chr9:35075025 [GRCh38]
Chr9:35075022 [GRCh37]
Chr9:9p13.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs) deletion Fanconi anemia [RCV000630850]|Fanconi anemia complementation group G [RCV001831913]|not specified [RCV000121036] Chr9:35074124..35074125 [GRCh38]
Chr9:35074121..35074122 [GRCh37]
Chr9:9p13.3		 uncertain significance|not provided
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu) single nucleotide variant Fanconi anemia [RCV002514637]|not specified [RCV000121037] Chr9:35078736 [GRCh38]
Chr9:35078733 [GRCh37]
Chr9:9p13.3		 uncertain significance|not provided
NM_004629.2(FANCG):c.196G>A (p.Val66Ile) single nucleotide variant not specified [RCV000121038] Chr9:35078716 [GRCh38]
Chr9:35078713 [GRCh37]
Chr9:9p13.3		 not provided
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys) single nucleotide variant Fanconi anemia [RCV000631014]|Fanconi anemia complementation group G [RCV001166627]|not specified [RCV000121039] Chr9:35078285 [GRCh38]
Chr9:35078282 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000323780]|Fanconi anemia [RCV000234540]|Fanconi anemia complementation group G [RCV001166142]|Inclusion Body Myopathy, Dominant [RCV000378873]|not specified [RCV000121040] Chr9:35077270 [GRCh38]
Chr9:35077267 [GRCh37]
Chr9:9p13.3		 benign|likely benign|not provided
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000377286]|Fanconi anemia [RCV000302780]|Fanconi anemia complementation group G [RCV001166139]|Inclusion Body Myopathy, Dominant [RCV000282744]|not provided [RCV000514324]|not specified [RCV000121041] Chr9:35076758 [GRCh38]
Chr9:35076755 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_004629.2(FANCG):c.863G>T (p.Arg288Met) single nucleotide variant not specified [RCV000121042] Chr9:35076785 [GRCh38]
Chr9:35076782 [GRCh37]
Chr9:9p13.3		 not provided
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) single nucleotide variant Fanconi anemia [RCV000233809]|Fanconi anemia complementation group G [RCV001169049]|not provided [RCV001588965]|not specified [RCV000121043] Chr9:35076520 [GRCh38]
Chr9:35076517 [GRCh37]
Chr9:9p13.3		 benign|likely benign|not provided
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000318068]|Fanconi anemia [RCV000342448]|Fanconi anemia complementation group G [RCV001169045]|Inclusion Body Myopathy, Dominant [RCV000262883]|not provided [RCV001573471]|not specified [RCV000121044] Chr9:35075972 [GRCh38]
Chr9:35075969 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004629.2(FANCG):c.1761-2A>C single nucleotide variant Fanconi anemia complementation group G [RCV001781088] Chr9:35074218 [GRCh38]
Chr9:35074215 [GRCh37]
Chr9:9p13.3		 likely pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) single nucleotide variant Fanconi anemia [RCV000168294]|Fanconi anemia complementation group G [RCV001194974] Chr9:35074384 [GRCh38]
Chr9:35074381 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NM_004629.2(FANCG):c.156dup (p.Leu53fs) duplication Fanconi anemia [RCV000198686]|Fanconi anemia complementation group G [RCV001194937] Chr9:35079169..35079170 [GRCh38]
Chr9:35079166..35079167 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) single nucleotide variant Fanconi anemia [RCV000205598]|Fanconi anemia complementation group G [RCV001449943]|Inborn genetic diseases [RCV002515531]|not specified [RCV000502118] Chr9:35077026 [GRCh38]
Chr9:35077023 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys) single nucleotide variant Fanconi anemia [RCV000227855]|Fanconi anemia complementation group G [RCV000766061] Chr9:35078230 [GRCh38]
Chr9:35078227 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) single nucleotide variant Fanconi anemia [RCV000230539]|Fanconi anemia complementation group G [RCV001166143]|not provided [RCV002307462] Chr9:35078173 [GRCh38]
Chr9:35078170 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.238C>T (p.Leu80=) single nucleotide variant Fanconi anemia [RCV000231309]|Fanconi anemia complementation group G [RCV001095316] Chr9:35078674 [GRCh38]
Chr9:35078671 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004629.2(FANCG):c.927C>G (p.Ala309=) single nucleotide variant Fanconi anemia [RCV000232210] Chr9:35076581 [GRCh38]
Chr9:35076578 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) single nucleotide variant Fanconi anemia [RCV000233650]|Fanconi anemia complementation group G [RCV001168310] Chr9:35075018 [GRCh38]
Chr9:35075015 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln) single nucleotide variant Fanconi anemia [RCV000226961]|Fanconi anemia complementation group G [RCV001828116] Chr9:35075305 [GRCh38]
Chr9:35075302 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln) single nucleotide variant Fanconi anemia [RCV000234010]|Fanconi anemia complementation group G [RCV001833247] Chr9:35078619 [GRCh38]
Chr9:35078616 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) single nucleotide variant Fanconi anemia [RCV000228244]|Fanconi anemia complementation group G [RCV000764833]|not specified [RCV000502617] Chr9:35076767 [GRCh38]
Chr9:35076764 [GRCh37]
Chr9:9p13.3		 benign|likely benign|uncertain significance
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln) single nucleotide variant Fanconi anemia [RCV002519861]|not specified [RCV000239137] Chr9:35074996 [GRCh38]
Chr9:35074993 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004629.2(FANCG):c.1433+9G>A single nucleotide variant Fanconi anemia [RCV000543660]|not specified [RCV000251017] Chr9:35075456 [GRCh38]
Chr9:35075453 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.158T>G (p.Leu53Arg) single nucleotide variant Fanconi anemia [RCV000550848]|Fanconi anemia complementation group G [RCV001834745] Chr9:35079168 [GRCh38]
Chr9:35079165 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.85-21A>C single nucleotide variant not specified [RCV000247046] Chr9:35079262 [GRCh38]
Chr9:35079259 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.511-45A>G single nucleotide variant Fanconi anemia complementation group G [RCV001532803]|not provided [RCV001597011]|not specified [RCV000252107] Chr9:35077444 [GRCh38]
Chr9:35077441 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.1636+7A>G single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000367549]|Fanconi anemia [RCV000394450]|Fanconi anemia complementation group G [RCV001168309]|Inclusion Body Myopathy, Dominant [RCV000275986]|not provided [RCV001706343]|not specified [RCV000247570] Chr9:35074920 [GRCh38]
Chr9:35074917 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.1(FANCG):c.-488G>A single nucleotide variant Fanconi anemia complementation group G [RCV000323228] Chr9:35080012 [GRCh38]
Chr9:35080009 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.1(FANCG):c.-450G>C single nucleotide variant Fanconi anemia complementation group G [RCV000372027] Chr9:35079974 [GRCh38]
Chr9:35079971 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr) single nucleotide variant Fanconi anemia [RCV000399194]|Fanconi anemia complementation group G [RCV002481259] Chr9:35077066 [GRCh38]
Chr9:35077063 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) single nucleotide variant Fanconi anemia [RCV000374615]|Fanconi anemia complementation group G [RCV001095313] Chr9:35074169 [GRCh38]
Chr9:35074166 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004629.2(FANCG):c.-348A>G single nucleotide variant Fanconi anemia complementation group G [RCV000275055] Chr9:35079872 [GRCh38]
Chr9:35079869 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.*101A>G single nucleotide variant Fanconi anemia complementation group G [RCV000331685] Chr9:35074007 [GRCh38]
Chr9:35074004 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.1(FANCG):c.-490G>T single nucleotide variant Fanconi anemia complementation group G [RCV000380203]|not provided [RCV001538423] Chr9:35080014 [GRCh38]
Chr9:35080011 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.957G>A (p.Pro319=) single nucleotide variant Fanconi anemia [RCV000401554]|Fanconi anemia complementation group G [RCV001095301] Chr9:35076551 [GRCh38]
Chr9:35076548 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004629.2(FANCG):c.-93C>G single nucleotide variant Fanconi anemia complementation group G [RCV000276025] Chr9:35079617 [GRCh38]
Chr9:35079614 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.*250C>T single nucleotide variant Fanconi anemia complementation group G [RCV000293092] Chr9:35073858 [GRCh38]
Chr9:35073855 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.1(FANCG):c.-453_-452insT insertion Fanconi anemia [RCV000261004]|not provided [RCV001613235] Chr9:35079976..35079977 [GRCh38]
Chr9:35079973..35079974 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.1689G>C (p.Arg563=) single nucleotide variant Fanconi anemia [RCV000281814]|Fanconi anemia complementation group G [RCV001095314] Chr9:35074442 [GRCh38]
Chr9:35074439 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004629.2(FANCG):c.-392A>G single nucleotide variant Fanconi anemia complementation group G [RCV000318427]|not provided [RCV001672728] Chr9:35079916 [GRCh38]
Chr9:35079913 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.1(FANCG):c.-491G>A single nucleotide variant Fanconi anemia complementation group G [RCV000283156] Chr9:35080015 [GRCh38]
Chr9:35080012 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1777C>T (p.Leu593=) single nucleotide variant Fanconi anemia complementation group G [RCV001279907] Chr9:35074200 [GRCh38]
Chr9:35074197 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser) single nucleotide variant Fanconi anemia [RCV000549023]|Fanconi anemia complementation group G [RCV001829560]|not provided [RCV000999154] Chr9:35078151 [GRCh38]
Chr9:35078148 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.-182del deletion Fanconi anemia [RCV000314954] Chr9:35079706 [GRCh38]
Chr9:35079703 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg) single nucleotide variant Fanconi anemia [RCV000346015]|Fanconi anemia complementation group G [RCV001095302] Chr9:35076768 [GRCh38]
Chr9:35076765 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.161dup (p.His55fs) duplication Fanconi anemia [RCV000814219]|Fanconi anemia complementation group G [RCV000363591] Chr9:35079164..35079165 [GRCh38]
Chr9:35079161..35079162 [GRCh37]
Chr9:9p13.3		 pathogenic|uncertain significance
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000404884]|Fanconi anemia [RCV000334548]|Fanconi anemia complementation group G [RCV001168308]|Inclusion Body Myopathy, Dominant [RCV000312936]|not specified [RCV000421683] Chr9:35074493 [GRCh38]
Chr9:35074490 [GRCh37]
Chr9:9p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004629.2(FANCG):c.-311T>A single nucleotide variant Fanconi anemia complementation group G [RCV000367302] Chr9:35079835 [GRCh38]
Chr9:35079832 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys) single nucleotide variant Fanconi anemia [RCV001235667]|Fanconi anemia complementation group G [RCV000285343] Chr9:35075646 [GRCh38]
Chr9:35075643 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.1(FANCG):c.-504A>T single nucleotide variant Fanconi anemia [RCV000289053]|not provided [RCV001692091] Chr9:35080028 [GRCh38]
Chr9:35080025 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_004629.2(FANCG):c.375C>A (p.Val125=) single nucleotide variant Fanconi anemia [RCV000528366] Chr9:35078276 [GRCh38]
Chr9:35078273 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser) single nucleotide variant Fanconi anemia [RCV000538737]|Fanconi anemia complementation group G [RCV001271372] Chr9:35077330 [GRCh38]
Chr9:35077327 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.177G>A (p.Gly59=) single nucleotide variant Fanconi anemia [RCV000535020] Chr9:35078735 [GRCh38]
Chr9:35078732 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1268G>A (p.Arg423His) single nucleotide variant Fanconi anemia [RCV000533459]|Fanconi anemia complementation group G [RCV001834743] Chr9:35075630 [GRCh38]
Chr9:35075627 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_004629.2(FANCG):c.1441G>C (p.Glu481Gln) single nucleotide variant Fanconi anemia [RCV000558612]|Fanconi anemia complementation group G [RCV001834744] Chr9:35075318 [GRCh38]
Chr9:35075315 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr) single nucleotide variant Fanconi anemia [RCV000466891]|Fanconi anemia complementation group G [RCV001828465] Chr9:35074413 [GRCh38]
Chr9:35074410 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.81C>T (p.Ala27=) single nucleotide variant Fanconi anemia [RCV001424218]|Fanconi anemia complementation group G [RCV002506150] Chr9:35079444 [GRCh38]
Chr9:35079441 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.730G>A (p.Val244Met) single nucleotide variant Fanconi anemia [RCV000459721]|Fanconi anemia complementation group G [RCV000764834] Chr9:35077018 [GRCh38]
Chr9:35077015 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1626G>C (p.Gln542His) single nucleotide variant Fanconi anemia [RCV000474625]|Fanconi anemia complementation group G [RCV001271251]|not provided [RCV001354606] Chr9:35074937 [GRCh38]
Chr9:35074934 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp) single nucleotide variant Fanconi anemia [RCV000467399]|Fanconi anemia complementation group G [RCV001828466] Chr9:35075306 [GRCh38]
Chr9:35075303 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.175+4G>C single nucleotide variant Fanconi anemia [RCV000467615] Chr9:35079147 [GRCh38]
Chr9:35079144 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.375C>G (p.Val125=) single nucleotide variant Fanconi anemia [RCV000475466] Chr9:35078276 [GRCh38]
Chr9:35078273 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_004629.2(FANCG):c.1578C>T (p.Ala526=) single nucleotide variant Fanconi anemia [RCV001485084] Chr9:35074985 [GRCh38]
Chr9:35074982 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1636+5G>A single nucleotide variant Fanconi anemia [RCV000457215] Chr9:35074922 [GRCh38]
Chr9:35074919 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu) single nucleotide variant Fanconi anemia [RCV000460974]|Fanconi anemia complementation group G [RCV001271365] Chr9:35075709 [GRCh38]
Chr9:35075706 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.399G>A (p.Pro133=) single nucleotide variant Fanconi anemia [RCV000468484] Chr9:35078252 [GRCh38]
Chr9:35078249 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1767C>T (p.Leu589=) single nucleotide variant Fanconi anemia [RCV001408183] Chr9:35074210 [GRCh38]
Chr9:35074207 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.333G>A (p.Gly111=) single nucleotide variant Fanconi anemia [RCV000465407] Chr9:35078318 [GRCh38]
Chr9:35078315 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr) single nucleotide variant Fanconi anemia [RCV000532089]|Fanconi anemia complementation group G [RCV001829561] Chr9:35076540 [GRCh38]
Chr9:35076537 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.777+1G>A single nucleotide variant Fanconi anemia [RCV000461878] Chr9:35076970 [GRCh38]
Chr9:35076967 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.705G>A (p.Ala235=) single nucleotide variant Fanconi anemia [RCV000553789] Chr9:35077043 [GRCh38]
Chr9:35077040 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.373_375dup (p.Val125dup) duplication Fanconi anemia [RCV000473884] Chr9:35078275..35078276 [GRCh38]
Chr9:35078272..35078273 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser) single nucleotide variant Fanconi anemia complementation group G [RCV001166562]|not specified [RCV000501624] Chr9:35074479 [GRCh38]
Chr9:35074476 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile) single nucleotide variant Fanconi anemia [RCV001865605]|Fanconi anemia complementation group G [RCV002481613]|not specified [RCV000500517] Chr9:35076743 [GRCh38]
Chr9:35076740 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) single nucleotide variant Fanconi anemia [RCV000630991]|Fanconi anemia complementation group G [RCV001294012]|not provided [RCV001597147]|not specified [RCV000500656] Chr9:35077009 [GRCh38]
Chr9:35077006 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
NM_004629.2(FANCG):c.1636+1_1636+5delinsA indel Fanconi anemia [RCV001246594] Chr9:35074922..35074926 [GRCh38]
Chr9:35074919..35074923 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His) single nucleotide variant Fanconi anemia [RCV000556442] Chr9:35074203 [GRCh38]
Chr9:35074200 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1155_1163del (p.Ser387_Pro389del) deletion Fanconi anemia [RCV000630857] Chr9:35075735..35075743 [GRCh38]
Chr9:35075732..35075740 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.558C>G (p.Pro186=) single nucleotide variant Fanconi anemia [RCV000630976] Chr9:35077352 [GRCh38]
Chr9:35077349 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1806C>T (p.Pro602=) single nucleotide variant Fanconi anemia [RCV000630982] Chr9:35074171 [GRCh38]
Chr9:35074168 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1365C>A (p.Thr455=) single nucleotide variant Fanconi anemia [RCV000631024] Chr9:35075533 [GRCh38]
Chr9:35075530 [GRCh37]
Chr9:9p13.3		 likely benign
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1017T>C (p.His339=) single nucleotide variant Fanconi anemia [RCV000559410] Chr9:35076491 [GRCh38]
Chr9:35076488 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln) single nucleotide variant Fanconi anemia [RCV000536957]|Fanconi anemia complementation group G [RCV001276340] Chr9:35075053 [GRCh38]
Chr9:35075050 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys) single nucleotide variant Fanconi anemia [RCV000630930]|Fanconi anemia complementation group G [RCV001835886] Chr9:35078313 [GRCh38]
Chr9:35078310 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.778-1G>A single nucleotide variant Fanconi anemia [RCV000630841] Chr9:35076871 [GRCh38]
Chr9:35076868 [GRCh37]
Chr9:9p13.3		 likely pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_004629.2(FANCG):c.464G>A (p.Arg155His) single nucleotide variant Fanconi anemia [RCV000538510]|Fanconi anemia complementation group G [RCV001273818] Chr9:35078187 [GRCh38]
Chr9:35078184 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
NM_004629.2(FANCG):c.1077-2A>G single nucleotide variant Fanconi anemia [RCV000695845]|Fanconi anemia complementation group G [RCV000760153]|not provided [RCV000514018] Chr9:35076030 [GRCh38]
Chr9:35076027 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala) single nucleotide variant Fanconi anemia [RCV000630874]|Fanconi anemia complementation group G [RCV001829776] Chr9:35074483 [GRCh38]
Chr9:35074480 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.743T>C (p.Val248Ala) single nucleotide variant Fanconi anemia [RCV000630934]|Fanconi anemia complementation group G [RCV001829777] Chr9:35077005 [GRCh38]
Chr9:35077002 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1480+5T>G single nucleotide variant Fanconi anemia [RCV000630959]|Fanconi anemia complementation group G [RCV001829778] Chr9:35075274 [GRCh38]
Chr9:35075271 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala) single nucleotide variant Fanconi anemia [RCV000699869]|Fanconi anemia complementation group G [RCV001788338] Chr9:35075742 [GRCh38]
Chr9:35075739 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln) single nucleotide variant Fanconi anemia [RCV000706685]|Fanconi anemia complementation group G [RCV002477633] Chr9:35075285 [GRCh38]
Chr9:35075282 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro) single nucleotide variant Fanconi anemia [RCV000687585] Chr9:35075300 [GRCh38]
Chr9:35075297 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.84+53G>T single nucleotide variant Fanconi anemia complementation group G [RCV000714833] Chr9:35079388 [GRCh38]
Chr9:35079385 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) single nucleotide variant Fanconi anemia [RCV000699360]|Fanconi anemia complementation group G [RCV001194951]|not provided [RCV002060878] Chr9:35077096 [GRCh38]
Chr9:35077093 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1367A>T (p.His456Leu) single nucleotide variant Fanconi anemia [RCV000703296]|Fanconi anemia complementation group G [RCV001271255] Chr9:35075531 [GRCh38]
Chr9:35075528 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1814G>A (p.Arg605His) single nucleotide variant Fanconi anemia [RCV000692426]|Fanconi anemia complementation group G [RCV001830509] Chr9:35074163 [GRCh38]
Chr9:35074160 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) single nucleotide variant Fanconi anemia [RCV000692482]|Fanconi anemia complementation group G [RCV001194955] Chr9:35076740 [GRCh38]
Chr9:35076737 [GRCh37]
Chr9:9p13.3		 pathogenic|uncertain significance
NM_004629.2(FANCG):c.181C>T (p.Pro61Ser) single nucleotide variant Fanconi anemia [RCV000689880]|Fanconi anemia complementation group G [RCV001830502] Chr9:35078731 [GRCh38]
Chr9:35078728 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala) single nucleotide variant Fanconi anemia [RCV000707369]|Fanconi anemia complementation group G [RCV001271367]|Inborn genetic diseases [RCV002532871] Chr9:35075745 [GRCh38]
Chr9:35075742 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.54A>C (p.Glu18Asp) single nucleotide variant Fanconi anemia [RCV000696427] Chr9:35079471 [GRCh38]
Chr9:35079468 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) single nucleotide variant Fanconi anemia [RCV000696742]|Fanconi anemia complementation group G [RCV001194971]|not provided [RCV002259362] Chr9:35074489 [GRCh38]
Chr9:35074486 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu) single nucleotide variant Fanconi anemia [RCV000691853]|Fanconi anemia complementation group G [RCV001825346] Chr9:35076861 [GRCh38]
Chr9:35076858 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004629.2(FANCG):c.777+45G>A single nucleotide variant not provided [RCV001666948] Chr9:35076926 [GRCh38]
Chr9:35076923 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.646+58C>T single nucleotide variant Fanconi anemia complementation group G [RCV001532802]|not provided [RCV001720303] Chr9:35077206 [GRCh38]
Chr9:35077203 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.1076+3_1076+7del microsatellite Fanconi anemia [RCV001615387] Chr9:35076425..35076429 [GRCh38]
Chr9:35076422..35076426 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter) single nucleotide variant Fanconi anemia [RCV001615383] Chr9:35075523 [GRCh38]
Chr9:35075520 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) single nucleotide variant Fanconi anemia complementation group G [RCV001580703] Chr9:35076481 [GRCh38]
Chr9:35076478 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) duplication Fanconi anemia [RCV001067732]|Fanconi anemia complementation group G [RCV000761291] Chr9:35075739..35075740 [GRCh38]
Chr9:35075736..35075737 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_004629.2(FANCG):c.1158del (p.Ser387fs) deletion Fanconi anemia [RCV001869034]|Fanconi anemia complementation group G [RCV000760154]|not provided [RCV002225722] Chr9:35075740 [GRCh38]
Chr9:35075737 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.292C>A (p.Arg98=) single nucleotide variant Fanconi anemia [RCV002558631]|Fanconi anemia complementation group G [RCV001166628] Chr9:35078620 [GRCh38]
Chr9:35078617 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys) single nucleotide variant Fanconi anemia [RCV001045486] Chr9:35079473 [GRCh38]
Chr9:35079470 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) single nucleotide variant Fanconi anemia [RCV001615382] Chr9:35075646 [GRCh38]
Chr9:35075643 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.346C>T (p.Gln116Ter) single nucleotide variant Fanconi anemia [RCV001615379] Chr9:35078305 [GRCh38]
Chr9:35078302 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp) single nucleotide variant Fanconi anemia [RCV001615380] Chr9:35075513 [GRCh38]
Chr9:35075510 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1077-6C>T single nucleotide variant not provided [RCV000927946] Chr9:35076034 [GRCh38]
Chr9:35076031 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1233A>G (p.Gln411=) single nucleotide variant Fanconi anemia [RCV000929252] Chr9:35075665 [GRCh38]
Chr9:35075662 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.622C>T (p.Leu208=) single nucleotide variant Fanconi anemia [RCV001419814] Chr9:35077288 [GRCh38]
Chr9:35077285 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1677G>A (p.Lys559=) single nucleotide variant Fanconi anemia [RCV000866477] Chr9:35074454 [GRCh38]
Chr9:35074451 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.510+7G>C single nucleotide variant Fanconi anemia [RCV000943894] Chr9:35078134 [GRCh38]
Chr9:35078131 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1203G>A (p.Ala401=) single nucleotide variant Fanconi anemia [RCV001395269] Chr9:35075695 [GRCh38]
Chr9:35075692 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.564T>C (p.Ala188=) single nucleotide variant Fanconi anemia [RCV001476834] Chr9:35077346 [GRCh38]
Chr9:35077343 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1815T>C (p.Arg605=) single nucleotide variant Fanconi anemia [RCV001402715] Chr9:35074162 [GRCh38]
Chr9:35074159 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1095G>A (p.Glu365=) single nucleotide variant Fanconi anemia [RCV001439541] Chr9:35076010 [GRCh38]
Chr9:35076007 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1480+7T>C single nucleotide variant Fanconi anemia [RCV001471873] Chr9:35075272 [GRCh38]
Chr9:35075269 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.618C>T (p.Val206=) single nucleotide variant Fanconi anemia [RCV002066404] Chr9:35077292 [GRCh38]
Chr9:35077289 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.824_825del (p.Glu275fs) microsatellite Fanconi anemia [RCV001049179] Chr9:35076823..35076824 [GRCh38]
Chr9:35076820..35076821 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr) single nucleotide variant Fanconi anemia [RCV001058207]|Fanconi anemia complementation group G [RCV001271371] Chr9:35077276 [GRCh38]
Chr9:35077273 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.12:g.(?_35076714)_(35077111_?)del deletion Fanconi anemia [RCV001033520] Chr9:35076711..35077108 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1492A>C (p.Asn498His) single nucleotide variant Fanconi anemia [RCV001037442]|Fanconi anemia complementation group G [RCV002479242] Chr9:35075071 [GRCh38]
Chr9:35075068 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup) duplication Fanconi anemia [RCV001038429] Chr9:35076569..35076570 [GRCh38]
Chr9:35076566..35076567 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro) single nucleotide variant Fanconi anemia [RCV001037312]|Fanconi anemia complementation group G [RCV002479240] Chr9:35075600 [GRCh38]
Chr9:35075597 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.511-6dup duplication Fanconi anemia [RCV000867152]|Fanconi anemia complementation group G [RCV001271373] Chr9:35077401..35077402 [GRCh38]
Chr9:35077398..35077399 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.729T>C (p.Pro243=) single nucleotide variant Fanconi anemia [RCV000871986]|Fanconi anemia complementation group G [RCV002507518] Chr9:35077019 [GRCh38]
Chr9:35077016 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.933T>C (p.Asn311=) single nucleotide variant Fanconi anemia [RCV000860689] Chr9:35076575 [GRCh38]
Chr9:35076572 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1335G>A (p.Leu445=) single nucleotide variant Fanconi anemia [RCV001472326]|Fanconi anemia complementation group G [RCV001825752] Chr9:35075563 [GRCh38]
Chr9:35075560 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.84+9G>T single nucleotide variant Fanconi anemia [RCV000874690]|Fanconi anemia complementation group G [RCV001271376] Chr9:35079432 [GRCh38]
Chr9:35079429 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) single nucleotide variant Fanconi anemia [RCV000867123]|Fanconi anemia complementation group G [RCV002495270] Chr9:35075740 [GRCh38]
Chr9:35075737 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1521G>A (p.Ala507=) single nucleotide variant Fanconi anemia [RCV000862386]|Fanconi anemia complementation group G [RCV001276339]|not specified [RCV001816945] Chr9:35075042 [GRCh38]
Chr9:35075039 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.1048C>T (p.Leu350=) single nucleotide variant Fanconi anemia [RCV000866466]|Fanconi anemia complementation group G [RCV001271368] Chr9:35076460 [GRCh38]
Chr9:35076457 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly) single nucleotide variant Fanconi anemia [RCV000820764]|Fanconi anemia complementation group G [RCV001166626] Chr9:35078193 [GRCh38]
Chr9:35078190 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.282G>A (p.Gln94=) single nucleotide variant Fanconi anemia [RCV001485578] Chr9:35078630 [GRCh38]
Chr9:35078627 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg) single nucleotide variant Fanconi anemia [RCV000813675]|Fanconi anemia complementation group G [RCV001835974] Chr9:35074968 [GRCh38]
Chr9:35074965 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) deletion Fanconi anemia [RCV000814599]|Fanconi anemia complementation group G [RCV003145178] Chr9:35074990 [GRCh38]
Chr9:35074987 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.380G>A (p.Arg127His) single nucleotide variant Fanconi anemia [RCV000791692]|Fanconi anemia complementation group G [RCV001830685]|not specified [RCV001816839] Chr9:35078271 [GRCh38]
Chr9:35078268 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala) single nucleotide variant Fanconi anemia [RCV000792277]|Fanconi anemia complementation group G [RCV001835959] Chr9:35074209 [GRCh38]
Chr9:35074206 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu) single nucleotide variant Fanconi anemia [RCV000817154]|Ovarian cancer [RCV003153858]|not specified [RCV001816900] Chr9:35079470 [GRCh38]
Chr9:35079467 [GRCh37]
Chr9:9p13.3		 benign|uncertain significance
NM_004629.2(FANCG):c.1126G>T (p.Asp376Tyr) single nucleotide variant Fanconi anemia [RCV000821116] Chr9:35075979 [GRCh38]
Chr9:35075976 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys) single nucleotide variant Fanconi anemia [RCV000824419]|Fanconi anemia complementation group G [RCV001271249] Chr9:35074176 [GRCh38]
Chr9:35074173 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
NM_004629.2(FANCG):c.1157C>A (p.Pro386His) single nucleotide variant Fanconi anemia [RCV001327838]|Fanconi anemia complementation group G [RCV001169042] Chr9:35075741 [GRCh38]
Chr9:35075738 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.-276G>A single nucleotide variant Fanconi anemia complementation group G [RCV001168374] Chr9:35079800 [GRCh38]
Chr9:35079797 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1152A>C (p.Pro384=) single nucleotide variant Fanconi anemia complementation group G [RCV001169044] Chr9:35075746 [GRCh38]
Chr9:35075743 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.107C>T (p.Thr36Ile) single nucleotide variant Fanconi anemia [RCV000808810] Chr9:35079219 [GRCh38]
Chr9:35079216 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.704C>T (p.Ala235Val) single nucleotide variant Fanconi anemia [RCV001043781]|Fanconi anemia complementation group G [RCV001832416] Chr9:35077044 [GRCh38]
Chr9:35077041 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.*77C>T single nucleotide variant Fanconi anemia complementation group G [RCV001166561] Chr9:35074031 [GRCh38]
Chr9:35074028 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1298G>A (p.Arg433Gln) single nucleotide variant Fanconi anemia [RCV000798394]|Fanconi anemia complementation group G [RCV001271256] Chr9:35075600 [GRCh38]
Chr9:35075597 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1636+9A>T single nucleotide variant not provided [RCV000943038] Chr9:35074918 [GRCh38]
Chr9:35074915 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.635C>T (p.Ala212Val) single nucleotide variant Fanconi anemia [RCV000794093]|Fanconi anemia complementation group G [RCV002493448] Chr9:35077275 [GRCh38]
Chr9:35077272 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1216del (p.Gln406fs) deletion Fanconi anemia [RCV000798901] Chr9:35075682 [GRCh38]
Chr9:35075679 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) single nucleotide variant Fanconi anemia [RCV000863409]|Fanconi anemia complementation group G [RCV002487896] Chr9:35076019 [GRCh38]
Chr9:35076016 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1074G>A (p.Gly358=) single nucleotide variant Fanconi anemia [RCV001443928] Chr9:35076434 [GRCh38]
Chr9:35076431 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.85-2A>T single nucleotide variant Fanconi anemia [RCV000826141] Chr9:35079243 [GRCh38]
Chr9:35079240 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.766C>T (p.His256Tyr) single nucleotide variant Fanconi anemia [RCV000804096]|Fanconi anemia complementation group G [RCV001292759]|Inborn genetic diseases [RCV002537173]|not specified [RCV001816868] Chr9:35076982 [GRCh38]
Chr9:35076979 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.*141A>G single nucleotide variant Fanconi anemia complementation group G [RCV001166560] Chr9:35073967 [GRCh38]
Chr9:35073964 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) single nucleotide variant Fanconi anemia [RCV002271629]|Fanconi anemia complementation group G [RCV001194940] Chr9:35078700 [GRCh38]
Chr9:35078697 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) single nucleotide variant Fanconi anemia [RCV002258150]|Fanconi anemia complementation group G [RCV001194943]|Pituitary stalk interruption syndrome [RCV001257285] Chr9:35078656 [GRCh38]
Chr9:35078653 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.620del (p.Leu207fs) deletion Fanconi anemia [RCV001212916]|Fanconi anemia complementation group G [RCV001194949] Chr9:35077290 [GRCh38]
Chr9:35077287 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) duplication Fanconi anemia complementation group G [RCV001194956] Chr9:35076499..35076500 [GRCh38]
Chr9:35076496..35076497 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1433+1G>A single nucleotide variant Fanconi anemia [RCV001863077]|not provided [RCV001194963] Chr9:35075464 [GRCh38]
Chr9:35075461 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) single nucleotide variant Fanconi anemia complementation group G [RCV001194964] Chr9:35075035 [GRCh38]
Chr9:35075032 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1749del (p.Asp584fs) deletion Fanconi anemia complementation group G [RCV001194975] Chr9:35074382 [GRCh38]
Chr9:35074379 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) single nucleotide variant Fanconi anemia [RCV001392144]|Fanconi anemia complementation group G [RCV001830908] Chr9:35075533 [GRCh38]
Chr9:35075530 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.770G>A (p.Arg257His) single nucleotide variant Fanconi anemia complementation group A [RCV000988181]|Fanconi anemia complementation group G [RCV002505499] Chr9:35076978 [GRCh38]
Chr9:35076975 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.247del (p.Ser83fs) deletion Fanconi anemia complementation group G [RCV001194942] Chr9:35078665 [GRCh38]
Chr9:35078662 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.778-1G>C single nucleotide variant Fanconi anemia [RCV001863075]|Fanconi anemia complementation group G [RCV001194952] Chr9:35076871 [GRCh38]
Chr9:35076868 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.1359del (p.Ala454fs) deletion Fanconi anemia complementation group G [RCV001194962] Chr9:35075539 [GRCh38]
Chr9:35075536 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu) single nucleotide variant Fanconi anemia complementation group G [RCV001194967] Chr9:35075001 [GRCh38]
Chr9:35074998 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.511-3_511-2del deletion Fanconi anemia [RCV001064984] Chr9:35077401..35077402 [GRCh38]
Chr9:35077398..35077399 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu) single nucleotide variant Fanconi anemia [RCV001231403] Chr9:35079515 [GRCh38]
Chr9:35079512 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) single nucleotide variant Fanconi anemia [RCV001247931]|Fanconi anemia complementation group A [RCV000988180]|Fanconi anemia complementation group G [RCV001827127] Chr9:35076516 [GRCh38]
Chr9:35076513 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu) single nucleotide variant Fanconi anemia [RCV001210617]|Fanconi anemia complementation group G [RCV001833848] Chr9:35078253 [GRCh38]
Chr9:35078250 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu) single nucleotide variant Fanconi anemia [RCV001241009]|Fanconi anemia complementation group G [RCV001834137] Chr9:35076023 [GRCh38]
Chr9:35076020 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) single nucleotide variant Fanconi anemia [RCV001241021]|Fanconi anemia complementation group G [RCV002484321]|not provided [RCV002466647] Chr9:35076532 [GRCh38]
Chr9:35076529 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala) single nucleotide variant Fanconi anemia [RCV001242335]|Fanconi anemia complementation group G [RCV001835125]|Ovarian cancer [RCV003153956] Chr9:35074429 [GRCh38]
Chr9:35074426 [GRCh37]
Chr9:9p13.3		 benign|uncertain significance
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp) single nucleotide variant Fanconi anemia [RCV001246285]|Fanconi anemia complementation group G [RCV001835261] Chr9:35075601 [GRCh38]
Chr9:35075598 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn) single nucleotide variant Fanconi anemia [RCV002558620]|Fanconi anemia complementation group G [RCV001166138]|not specified [RCV001819867] Chr9:35076564 [GRCh38]
Chr9:35076561 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) single nucleotide variant Fanconi anemia [RCV001046724]|Fanconi anemia complementation group G [RCV001283830] Chr9:35076979 [GRCh38]
Chr9:35076976 [GRCh37]
Chr9:9p13.3		 likely pathogenic|uncertain significance
NM_004629.2(FANCG):c.1155C>T (p.Pro385=) single nucleotide variant Fanconi anemia [RCV001429099]|Fanconi anemia complementation group G [RCV001169043] Chr9:35075743 [GRCh38]
Chr9:35075740 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter) single nucleotide variant Fanconi anemia [RCV001615386] Chr9:35075062 [GRCh38]
Chr9:35075059 [GRCh37]
Chr9:9p13.3		 pathogenic
Single allele single nucleotide variant not provided [RCV001691672] Chr9:35080213 [GRCh38]
Chr9:35080210 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.307+126T>C single nucleotide variant not provided [RCV001544654] Chr9:35078479 [GRCh38]
Chr9:35078476 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.510+38C>T single nucleotide variant not provided [RCV001558358] Chr9:35078103 [GRCh38]
Chr9:35078100 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.842del (p.Pro281fs) deletion Fanconi anemia complementation group G [RCV001580704] Chr9:35076806 [GRCh38]
Chr9:35076803 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.511-301C>T single nucleotide variant not provided [RCV001621323] Chr9:35077700 [GRCh38]
Chr9:35077697 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.84+77C>A single nucleotide variant Fanconi anemia complementation group G [RCV001532804]|not provided [RCV001685441] Chr9:35079364 [GRCh38]
Chr9:35079361 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.1416A>T (p.Ala472=) single nucleotide variant Fanconi anemia [RCV001500208] Chr9:35075482 [GRCh38]
Chr9:35075479 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1740G>A (p.Gly580=) single nucleotide variant Fanconi anemia [RCV001468506] Chr9:35074391 [GRCh38]
Chr9:35074388 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1575A>G (p.Val525=) single nucleotide variant Fanconi anemia [RCV001443177] Chr9:35074988 [GRCh38]
Chr9:35074985 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1002A>G (p.Leu334=) single nucleotide variant Fanconi anemia [RCV000873323] Chr9:35076506 [GRCh38]
Chr9:35076503 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.936C>T (p.Val312=) single nucleotide variant Fanconi anemia [RCV001500652] Chr9:35076572 [GRCh38]
Chr9:35076569 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.18C>T (p.Thr6=) single nucleotide variant Fanconi anemia [RCV000863971]|Fanconi anemia complementation group G [RCV001273823] Chr9:35079507 [GRCh38]
Chr9:35079504 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1805C>A (p.Pro602His) single nucleotide variant Fanconi anemia [RCV001221949] Chr9:35074172 [GRCh38]
Chr9:35074169 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1668G>T (p.Gln556His) single nucleotide variant Fanconi anemia [RCV001222077] Chr9:35074463 [GRCh38]
Chr9:35074460 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) indel Fanconi anemia complementation group G [RCV002484358] Chr9:35075706..35075716 [GRCh38]
Chr9:35075703..35075713 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp) single nucleotide variant Fanconi anemia [RCV002557425]|Fanconi anemia complementation group G [RCV001166141] Chr9:35077024 [GRCh38]
Chr9:35077021 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1745A>G (p.His582Arg) single nucleotide variant Fanconi anemia [RCV001209209]|Fanconi anemia complementation group G [RCV001833838] Chr9:35074386 [GRCh38]
Chr9:35074383 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu) single nucleotide variant Fanconi anemia [RCV001235157]|Fanconi anemia complementation group G [RCV001834040] Chr9:35075552 [GRCh38]
Chr9:35075549 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1123C>T (p.Leu375=) single nucleotide variant Fanconi anemia [RCV002542296] Chr9:35075982 [GRCh38]
Chr9:35075979 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.-7G>A single nucleotide variant Fanconi anemia complementation group G [RCV001563820] Chr9:35079531 [GRCh38]
Chr9:35079528 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys) single nucleotide variant Fanconi anemia complementation group G [RCV001563821] Chr9:35076432 [GRCh38]
Chr9:35076429 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.-19G>A single nucleotide variant Fanconi anemia complementation group G [RCV001563822] Chr9:35079543 [GRCh38]
Chr9:35079540 [GRCh37]
Chr9:9p13.3		 uncertain significance
Single allele single nucleotide variant not provided [RCV001559800] Chr9:35080109 [GRCh38]
Chr9:35080106 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.308-25_308-12del deletion Fanconi anemia [RCV002258665] Chr9:35078355..35078368 [GRCh38]
Chr9:35078352..35078365 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.616G>A (p.Val206Ile) single nucleotide variant Fanconi anemia [RCV002258668] Chr9:35077294 [GRCh38]
Chr9:35077291 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln) single nucleotide variant Fanconi anemia [RCV002259265] Chr9:35074488 [GRCh38]
Chr9:35074485 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.176-112G>A single nucleotide variant not provided [RCV001560777] Chr9:35078848 [GRCh38]
Chr9:35078845 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.511-5C>G single nucleotide variant Fanconi anemia [RCV003106574] Chr9:35077404 [GRCh38]
Chr9:35077401 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln) single nucleotide variant Fanconi anemia [RCV001049254]|Fanconi anemia complementation group G [RCV001832459] Chr9:35074443 [GRCh38]
Chr9:35074440 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1228G>A (p.Ala410Thr) single nucleotide variant Fanconi anemia [RCV001228396] Chr9:35075670 [GRCh38]
Chr9:35075667 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1002A>T (p.Leu334=) single nucleotide variant Fanconi anemia complementation group G [RCV001169047] Chr9:35076506 [GRCh38]
Chr9:35076503 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.84+3A>C single nucleotide variant not provided [RCV001194934] Chr9:35079438 [GRCh38]
Chr9:35079435 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter) single nucleotide variant Fanconi anemia [RCV002560181]|Fanconi anemia complementation group G [RCV001194936] Chr9:35079208 [GRCh38]
Chr9:35079205 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.179del (p.Leu60fs) deletion Fanconi anemia complementation group G [RCV001194939] Chr9:35078733 [GRCh38]
Chr9:35078730 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.244dup (p.Ala82fs) duplication Fanconi anemia complementation group G [RCV001194941] Chr9:35078667..35078668 [GRCh38]
Chr9:35078664..35078665 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.60T>A (p.Asn20Lys) single nucleotide variant not provided [RCV001194945] Chr9:35079465 [GRCh38]
Chr9:35079462 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) single nucleotide variant Fanconi anemia [RCV001381185]|Fanconi anemia complementation group G [RCV001194948] Chr9:35077338 [GRCh38]
Chr9:35077335 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.883dup (p.Asp295fs) duplication Fanconi anemia [RCV001863076]|Fanconi anemia complementation group G [RCV001194953] Chr9:35076764..35076765 [GRCh38]
Chr9:35076761..35076762 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1144-1G>C single nucleotide variant Fanconi anemia complementation group G [RCV001194959] Chr9:35075755 [GRCh38]
Chr9:35075752 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1761-1G>A single nucleotide variant Fanconi anemia complementation group G [RCV001194977] Chr9:35074217 [GRCh38]
Chr9:35074214 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe) single nucleotide variant Fanconi anemia complementation group G [RCV001194978] Chr9:35074214 [GRCh38]
Chr9:35074211 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe) single nucleotide variant Fanconi anemia [RCV001046543]|Fanconi anemia complementation group G [RCV001832438] Chr9:35078734 [GRCh38]
Chr9:35078731 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1113G>A (p.Leu371=) single nucleotide variant Fanconi anemia [RCV001068496] Chr9:35075992 [GRCh38]
Chr9:35075989 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.65G>C (p.Arg22Pro) single nucleotide variant Fanconi anemia complementation group G [RCV001194946] Chr9:35079460 [GRCh38]
Chr9:35079457 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter) single nucleotide variant Fanconi anemia [RCV002561026]|Fanconi anemia complementation group G [RCV001194947] Chr9:35077345 [GRCh38]
Chr9:35077342 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.899del (p.Leu300fs) deletion Fanconi anemia complementation group G [RCV001194954] Chr9:35076749 [GRCh38]
Chr9:35076746 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1143+5G>C single nucleotide variant Fanconi anemia [RCV001296885]|not provided [RCV001194957] Chr9:35075957 [GRCh38]
Chr9:35075954 [GRCh37]
Chr9:9p13.3		 pathogenic|uncertain significance
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr) single nucleotide variant Fanconi anemia [RCV002559233]|Fanconi anemia complementation group G [RCV001194960] Chr9:35075745 [GRCh38]
Chr9:35075742 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1593del (p.Ala533fs) deletion Fanconi anemia [RCV001863078]|Fanconi anemia complementation group G [RCV001194968] Chr9:35074970 [GRCh38]
Chr9:35074967 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1649del (p.Thr550fs) deletion Fanconi anemia complementation group G [RCV001194972] Chr9:35074482 [GRCh38]
Chr9:35074479 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter) single nucleotide variant Fanconi anemia [RCV001615385] Chr9:35074991 [GRCh38]
Chr9:35074988 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
NM_004629.2(FANCG):c.1637-189G>C single nucleotide variant not provided [RCV001538989] Chr9:35074683 [GRCh38]
Chr9:35074680 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter) single nucleotide variant Fanconi anemia [RCV001615384] Chr9:35075291 [GRCh38]
Chr9:35075288 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.511-81A>C single nucleotide variant not provided [RCV001613941] Chr9:35077480 [GRCh38]
Chr9:35077477 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.1076+4A>G single nucleotide variant Fanconi anemia [RCV001208435] Chr9:35076428 [GRCh38]
Chr9:35076425 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg) single nucleotide variant Fanconi anemia [RCV001218925]|Fanconi anemia complementation group G [RCV001828741] Chr9:35078203 [GRCh38]
Chr9:35078200 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.924+1G>A single nucleotide variant Fanconi anemia [RCV001060677] Chr9:35076723 [GRCh38]
Chr9:35076720 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.1434-6C>T single nucleotide variant Fanconi anemia [RCV001430903]|Fanconi anemia complementation group G [RCV001168313] Chr9:35075331 [GRCh38]
Chr9:35075328 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro) single nucleotide variant Fanconi anemia [RCV002559612]|Fanconi anemia complementation group G [RCV001168312] Chr9:35075311 [GRCh38]
Chr9:35075308 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser) single nucleotide variant Fanconi anemia complementation group G [RCV001168314] Chr9:35075553 [GRCh38]
Chr9:35075550 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.833C>T (p.Ala278Val) single nucleotide variant Fanconi anemia [RCV001050903]|Fanconi anemia complementation group G [RCV001271262] Chr9:35076815 [GRCh38]
Chr9:35076812 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.175+1G>A single nucleotide variant Fanconi anemia [RCV001863074]|Fanconi anemia complementation group G [RCV001194938] Chr9:35079150 [GRCh38]
Chr9:35079147 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.307+2del deletion Fanconi anemia complementation group G [RCV001194944] Chr9:35078603 [GRCh38]
Chr9:35078600 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1636+1G>A single nucleotide variant Fanconi anemia complementation group G [RCV001194970] Chr9:35074926 [GRCh38]
Chr9:35074923 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.85-1G>A single nucleotide variant Fanconi anemia complementation group G [RCV001194935] Chr9:35079242 [GRCh38]
Chr9:35079239 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.646+1G>T single nucleotide variant Fanconi anemia [RCV001379896]|Fanconi anemia complementation group G [RCV001194950] Chr9:35077263 [GRCh38]
Chr9:35077260 [GRCh37]
Chr9:9p13.3		 pathogenic|likely pathogenic
NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg) single nucleotide variant Fanconi anemia complementation group G [RCV001194969] Chr9:35074927 [GRCh38]
Chr9:35074924 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) single nucleotide variant Fanconi anemia [RCV002561027]|Fanconi anemia complementation group G [RCV001194973] Chr9:35074416 [GRCh38]
Chr9:35074413 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu) single nucleotide variant Fanconi anemia complementation group G [RCV001169046] Chr9:35076481 [GRCh38]
Chr9:35076478 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.794C>T (p.Ala265Val) single nucleotide variant Fanconi anemia [RCV001240348]|Fanconi anemia complementation group G [RCV001166140] Chr9:35076854 [GRCh38]
Chr9:35076851 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1143+5G>A single nucleotide variant Fanconi anemia complementation group G [RCV001194958] Chr9:35075957 [GRCh38]
Chr9:35075954 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1216dup (p.Gln406fs) duplication Fanconi anemia complementation group G [RCV001194961] Chr9:35075681..35075682 [GRCh38]
Chr9:35075678..35075679 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter) single nucleotide variant Fanconi anemia complementation group G [RCV001194966] Chr9:35075002 [GRCh38]
Chr9:35074999 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1761-1G>C single nucleotide variant Fanconi anemia complementation group G [RCV001194976] Chr9:35074217 [GRCh38]
Chr9:35074214 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) duplication Fanconi anemia complementation group G [RCV001194979] Chr9:35074205..35074206 [GRCh38]
Chr9:35074202..35074203 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser) single nucleotide variant Fanconi anemia [RCV001211477]|Fanconi anemia complementation group G [RCV001828688]|not specified [RCV001819899] Chr9:35075676 [GRCh38]
Chr9:35075673 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.-342G>T single nucleotide variant Fanconi anemia complementation group G [RCV001168375] Chr9:35079866 [GRCh38]
Chr9:35079863 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.999C>T (p.Asp333=) single nucleotide variant Fanconi anemia [RCV001456880]|Fanconi anemia complementation group G [RCV001169048] Chr9:35076509 [GRCh38]
Chr9:35076506 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.-56G>A single nucleotide variant Fanconi anemia complementation group G [RCV001166632] Chr9:35079580 [GRCh38]
Chr9:35079577 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1403C>T (p.Ala468Val) single nucleotide variant Fanconi anemia [RCV001053410] Chr9:35075495 [GRCh38]
Chr9:35075492 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1637-210G>A single nucleotide variant not provided [RCV001572452] Chr9:35074704 [GRCh38]
Chr9:35074701 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly) single nucleotide variant Fanconi anemia complementation group G [RCV001267762] Chr9:35076020 [GRCh38]
Chr9:35076017 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu) single nucleotide variant Fanconi anemia [RCV001309786]|Fanconi anemia complementation group G [RCV001835522] Chr9:35078619 [GRCh38]
Chr9:35078616 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn) single nucleotide variant Fanconi anemia [RCV001339723] Chr9:35077086 [GRCh38]
Chr9:35077083 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.422G>A (p.Arg141His) single nucleotide variant Fanconi anemia [RCV001295091]|Fanconi anemia complementation group G [RCV001830122] Chr9:35078229 [GRCh38]
Chr9:35078226 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.123G>A (p.Gln41=) single nucleotide variant Fanconi anemia [RCV001422968] Chr9:35079203 [GRCh38]
Chr9:35079200 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter) single nucleotide variant Fanconi anemia [RCV001382663] Chr9:35078286 [GRCh38]
Chr9:35078283 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr) single nucleotide variant Fanconi anemia [RCV001363417] Chr9:35076489 [GRCh38]
Chr9:35076486 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1473A>G (p.Lys491=) single nucleotide variant Fanconi anemia [RCV001391819]|Fanconi anemia complementation group G [RCV003145656] Chr9:35075286 [GRCh38]
Chr9:35075283 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.387C>T (p.Ser129=) single nucleotide variant Fanconi anemia [RCV001414340] Chr9:35078264 [GRCh38]
Chr9:35078261 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1800C>T (p.Ile600=) single nucleotide variant Fanconi anemia [RCV001392615] Chr9:35074177 [GRCh38]
Chr9:35074174 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg) single nucleotide variant Fanconi anemia [RCV001312904]|Fanconi anemia complementation group G [RCV001830266]|Ovarian cancer [RCV003153985] Chr9:35075606 [GRCh38]
Chr9:35075603 [GRCh37]
Chr9:9p13.3		 benign|uncertain significance
NM_004629.2(FANCG):c.1480+5T>C single nucleotide variant Fanconi anemia [RCV001362889] Chr9:35075274 [GRCh38]
Chr9:35075271 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_35072710)_(35079521_?)dup duplication Fanconi anemia [RCV001324794] Chr9:35072710..35079521 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met) single nucleotide variant Fanconi anemia [RCV001300972] Chr9:35074413 [GRCh38]
Chr9:35074410 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1758G>T (p.Leu586=) single nucleotide variant Fanconi anemia [RCV001421520] Chr9:35074373 [GRCh38]
Chr9:35074370 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1287C>T (p.Pro429=) single nucleotide variant Fanconi anemia [RCV001496599]|Fanconi anemia complementation group G [RCV001421006] Chr9:35075611 [GRCh38]
Chr9:35075608 [GRCh37]
Chr9:9p13.3		 likely benign
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.84+9del deletion Fanconi anemia [RCV001412931] Chr9:35079432 [GRCh38]
Chr9:35079429 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr) single nucleotide variant Fanconi anemia [RCV001327706]|Fanconi anemia complementation group G [RCV001831035] Chr9:35075044 [GRCh38]
Chr9:35075041 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.647-4T>G single nucleotide variant Fanconi anemia [RCV001412913] Chr9:35077105 [GRCh38]
Chr9:35077102 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.583T>C (p.Leu195=) single nucleotide variant Fanconi anemia [RCV001412967]|not specified [RCV001820110] Chr9:35077327 [GRCh38]
Chr9:35077324 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.927C>T (p.Ala309=) single nucleotide variant Fanconi anemia [RCV001395690] Chr9:35076581 [GRCh38]
Chr9:35076578 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter) single nucleotide variant Fanconi anemia [RCV001389380] Chr9:35075682 [GRCh38]
Chr9:35075679 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.882G>T (p.Gly294=) single nucleotide variant Fanconi anemia [RCV001504429] Chr9:35076766 [GRCh38]
Chr9:35076763 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.395dup (p.Pro133fs) duplication Fanconi anemia [RCV001380474] Chr9:35078255..35078256 [GRCh38]
Chr9:35078252..35078253 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1116C>G (p.Ala372=) single nucleotide variant Fanconi anemia [RCV001482062] Chr9:35075989 [GRCh38]
Chr9:35075986 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1662G>A (p.Leu554=) single nucleotide variant Fanconi anemia [RCV001496188] Chr9:35074469 [GRCh38]
Chr9:35074466 [GRCh37]
Chr9:9p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) duplication Fanconi anemia [RCV001385161] Chr9:35074478..35074479 [GRCh38]
Chr9:35074475..35074476 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1272A>G (p.Thr424=) single nucleotide variant Fanconi anemia [RCV001475365] Chr9:35075626 [GRCh38]
Chr9:35075623 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1076+9C>T single nucleotide variant Fanconi anemia [RCV001483062] Chr9:35076423 [GRCh38]
Chr9:35076420 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1005C>T (p.Ala335=) single nucleotide variant Fanconi anemia [RCV001399776] Chr9:35076503 [GRCh38]
Chr9:35076500 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1761-8C>T single nucleotide variant Fanconi anemia [RCV001470994] Chr9:35074224 [GRCh38]
Chr9:35074221 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.176-10G>A single nucleotide variant Fanconi anemia [RCV001402808]|Fanconi anemia complementation group G [RCV001762671] Chr9:35078746 [GRCh38]
Chr9:35078743 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_004629.2(FANCG):c.795A>T (p.Ala265=) single nucleotide variant Fanconi anemia [RCV001462555]|Fanconi anemia complementation group G [RCV002506536] Chr9:35076853 [GRCh38]
Chr9:35076850 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.840T>C (p.Gly280=) single nucleotide variant Fanconi anemia [RCV001474082] Chr9:35076808 [GRCh38]
Chr9:35076805 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1497T>C (p.Cys499=) single nucleotide variant Fanconi anemia [RCV001431472] Chr9:35075066 [GRCh38]
Chr9:35075063 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.279C>T (p.Ala93=) single nucleotide variant Fanconi anemia [RCV001455744] Chr9:35078633 [GRCh38]
Chr9:35078630 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1356C>T (p.Val452=) single nucleotide variant Fanconi anemia [RCV001474435] Chr9:35075542 [GRCh38]
Chr9:35075539 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1687C>A (p.Arg563=) single nucleotide variant Fanconi anemia [RCV001480826] Chr9:35074444 [GRCh38]
Chr9:35074441 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.511-6C>T single nucleotide variant Fanconi anemia [RCV001442676] Chr9:35077405 [GRCh38]
Chr9:35077402 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1416A>G (p.Ala472=) single nucleotide variant Fanconi anemia [RCV001480714] Chr9:35075482 [GRCh38]
Chr9:35075479 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1761-10T>C single nucleotide variant Fanconi anemia [RCV001456935] Chr9:35074226 [GRCh38]
Chr9:35074223 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1704T>C (p.Thr568=) single nucleotide variant Fanconi anemia [RCV001472735] Chr9:35074427 [GRCh38]
Chr9:35074424 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.936C>G (p.Val312=) single nucleotide variant Fanconi anemia [RCV001474895] Chr9:35076572 [GRCh38]
Chr9:35076569 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.603G>A (p.Gln201=) single nucleotide variant Fanconi anemia [RCV001398680] Chr9:35077307 [GRCh38]
Chr9:35077304 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1440C>T (p.Leu480=) single nucleotide variant Fanconi anemia [RCV001435465] Chr9:35075319 [GRCh38]
Chr9:35075316 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.777+8C>T single nucleotide variant Fanconi anemia [RCV001419774] Chr9:35076963 [GRCh38]
Chr9:35076960 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1063C>T (p.Leu355=) single nucleotide variant Fanconi anemia [RCV001445862] Chr9:35076445 [GRCh38]
Chr9:35076442 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.777+8C>G single nucleotide variant Fanconi anemia [RCV001446217] Chr9:35076963 [GRCh38]
Chr9:35076960 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1530G>A (p.Gln510=) single nucleotide variant Fanconi anemia [RCV001446259] Chr9:35075033 [GRCh38]
Chr9:35075030 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.957G>C (p.Pro319=) single nucleotide variant Fanconi anemia [RCV001437138]|Fanconi anemia complementation group G [RCV002488246] Chr9:35076551 [GRCh38]
Chr9:35076548 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.21T>C (p.Ser7=) single nucleotide variant Fanconi anemia [RCV001443770] Chr9:35079504 [GRCh38]
Chr9:35079501 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1617C>T (p.Leu539=) single nucleotide variant Fanconi anemia [RCV001405107] Chr9:35074946 [GRCh38]
Chr9:35074943 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.6C>T (p.Ser2=) single nucleotide variant Fanconi anemia [RCV001446721] Chr9:35079519 [GRCh38]
Chr9:35079516 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.647-2_649del deletion Abnormality of blood and blood-forming tissues [RCV001814313]|Fanconi anemia [RCV001378690] Chr9:35077099..35077103 [GRCh38]
Chr9:35077096..35077100 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.778-4T>G single nucleotide variant Fanconi anemia [RCV001400350] Chr9:35076874 [GRCh38]
Chr9:35076871 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1062C>T (p.Cys354=) single nucleotide variant Fanconi anemia [RCV001426897] Chr9:35076446 [GRCh38]
Chr9:35076443 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.321G>A (p.Gln107=) single nucleotide variant Fanconi anemia [RCV001426469] Chr9:35078330 [GRCh38]
Chr9:35078327 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) deletion Fanconi anemia [RCV001377115]|Fanconi anemia complementation group G [RCV001831335] Chr9:35074972..35074974 [GRCh38]
Chr9:35074969..35074971 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.51G>A (p.Arg17=) single nucleotide variant Fanconi anemia [RCV001393667] Chr9:35079474 [GRCh38]
Chr9:35079471 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.85-7G>A single nucleotide variant Fanconi anemia [RCV001438089] Chr9:35079248 [GRCh38]
Chr9:35079245 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.979T>C (p.Leu327=) single nucleotide variant Fanconi anemia [RCV001429746] Chr9:35076529 [GRCh38]
Chr9:35076526 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1071G>A (p.Thr357=) single nucleotide variant Fanconi anemia [RCV001404098] Chr9:35076437 [GRCh38]
Chr9:35076434 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.778-2A>C single nucleotide variant Carcinoma of pancreas [RCV001391221] Chr9:35076872 [GRCh38]
Chr9:35076869 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.495C>G (p.Thr165=) single nucleotide variant Fanconi anemia [RCV001411684] Chr9:35078156 [GRCh38]
Chr9:35078153 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.867C>T (p.Leu289=) single nucleotide variant Fanconi anemia [RCV001411701] Chr9:35076781 [GRCh38]
Chr9:35076778 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.729T>G (p.Pro243=) single nucleotide variant Fanconi anemia [RCV001416689] Chr9:35077019 [GRCh38]
Chr9:35077016 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.39G>T (p.Leu13=) single nucleotide variant Fanconi anemia [RCV001409152] Chr9:35079486 [GRCh38]
Chr9:35079483 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.495C>T (p.Thr165=) single nucleotide variant Fanconi anemia [RCV001464630] Chr9:35078156 [GRCh38]
Chr9:35078153 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.237C>A (p.Ile79=) single nucleotide variant Fanconi anemia [RCV001495111] Chr9:35078675 [GRCh38]
Chr9:35078672 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1482G>C (p.Gly494=) single nucleotide variant Fanconi anemia [RCV001478918] Chr9:35075081 [GRCh38]
Chr9:35075078 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.778-39G>C single nucleotide variant not provided [RCV001650319] Chr9:35076909 [GRCh38]
Chr9:35076906 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.132G>A (p.Gln44=) single nucleotide variant Fanconi anemia [RCV001498765] Chr9:35079194 [GRCh38]
Chr9:35079191 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.85-10C>T single nucleotide variant Fanconi anemia [RCV001502601] Chr9:35079251 [GRCh38]
Chr9:35079248 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.261T>C (p.Gly87=) single nucleotide variant Fanconi anemia [RCV001502226] Chr9:35078651 [GRCh38]
Chr9:35078648 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.834C>T (p.Ala278=) single nucleotide variant Fanconi anemia [RCV001500133] Chr9:35076814 [GRCh38]
Chr9:35076811 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.9C>G (p.Arg3=) single nucleotide variant Fanconi anemia [RCV001480350] Chr9:35079516 [GRCh38]
Chr9:35079513 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1279C>T (p.Leu427=) single nucleotide variant Fanconi anemia [RCV001497640] Chr9:35075619 [GRCh38]
Chr9:35075616 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.308-8C>T single nucleotide variant Fanconi anemia [RCV001478111] Chr9:35078351 [GRCh38]
Chr9:35078348 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.176-127dup duplication not provided [RCV001619158] Chr9:35078861..35078862 [GRCh38]
Chr9:35078858..35078859 [GRCh37]
Chr9:9p13.3		 benign
NM_004629.2(FANCG):c.744G>A (p.Val248=) single nucleotide variant Fanconi anemia [RCV001472593] Chr9:35077004 [GRCh38]
Chr9:35077001 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.276G>A (p.Gln92=) single nucleotide variant Fanconi anemia [RCV001472815] Chr9:35078636 [GRCh38]
Chr9:35078633 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.168T>C (p.Ser56=) single nucleotide variant Fanconi anemia [RCV001505928] Chr9:35079158 [GRCh38]
Chr9:35079155 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.156G>C (p.Gly52=) single nucleotide variant Fanconi anemia [RCV001482741] Chr9:35079170 [GRCh38]
Chr9:35079167 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter) single nucleotide variant Fanconi anemia [RCV001388483] Chr9:35076475 [GRCh38]
Chr9:35076472 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1338A>T (p.Pro446=) single nucleotide variant Fanconi anemia [RCV001429131] Chr9:35075560 [GRCh38]
Chr9:35075557 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1077-7T>C single nucleotide variant Fanconi anemia [RCV001462865] Chr9:35076035 [GRCh38]
Chr9:35076032 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.310C>T (p.Leu104=) single nucleotide variant Fanconi anemia [RCV001483162] Chr9:35078341 [GRCh38]
Chr9:35078338 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1563A>G (p.Gly521=) single nucleotide variant Fanconi anemia [RCV001463058] Chr9:35075000 [GRCh38]
Chr9:35074997 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1144-1G>T single nucleotide variant Fanconi anemia [RCV001385294]|Fanconi anemia complementation group G [RCV001826166] Chr9:35075755 [GRCh38]
Chr9:35075752 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1434-2A>C single nucleotide variant Fanconi anemia [RCV001379948] Chr9:35075327 [GRCh38]
Chr9:35075324 [GRCh37]
Chr9:9p13.3		 likely pathogenic
NM_004629.2(FANCG):c.171G>C (p.Leu57=) single nucleotide variant Fanconi anemia [RCV001505205] Chr9:35079155 [GRCh38]
Chr9:35079152 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1144-10C>T single nucleotide variant Fanconi anemia [RCV001454026] Chr9:35075764 [GRCh38]
Chr9:35075761 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.420C>T (p.His140=) single nucleotide variant Fanconi anemia [RCV001393047] Chr9:35078231 [GRCh38]
Chr9:35078228 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) single nucleotide variant Fanconi anemia [RCV001384029]|Fanconi anemia complementation group G [RCV003147631] Chr9:35076861 [GRCh38]
Chr9:35076858 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1433+8C>T single nucleotide variant Fanconi anemia [RCV001426033] Chr9:35075457 [GRCh38]
Chr9:35075454 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.777+10G>A single nucleotide variant Fanconi anemia [RCV001400589] Chr9:35076961 [GRCh38]
Chr9:35076958 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.124T>C (p.Leu42=) single nucleotide variant Fanconi anemia [RCV001400119]|Fanconi anemia complementation group G [RCV002499847] Chr9:35079202 [GRCh38]
Chr9:35079199 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.925-6T>C single nucleotide variant Fanconi anemia [RCV001468025] Chr9:35076589 [GRCh38]
Chr9:35076586 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys) single nucleotide variant Fanconi anemia [RCV001526807] Chr9:35076779 [GRCh38]
Chr9:35076776 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.672C>T (p.Asn224=) single nucleotide variant Fanconi anemia [RCV001452319] Chr9:35077076 [GRCh38]
Chr9:35077073 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.534G>C (p.Leu178=) single nucleotide variant Fanconi anemia [RCV001504034] Chr9:35077376 [GRCh38]
Chr9:35077373 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.384T>A (p.Ala128=) single nucleotide variant Fanconi anemia [RCV001400606] Chr9:35078267 [GRCh38]
Chr9:35078264 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.529C>T (p.Leu177=) single nucleotide variant Fanconi anemia [RCV001499549] Chr9:35077381 [GRCh38]
Chr9:35077378 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.714C>A (p.Gly238=) single nucleotide variant Fanconi anemia [RCV001424587] Chr9:35077034 [GRCh38]
Chr9:35077031 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1779A>G (p.Leu593=) single nucleotide variant Fanconi anemia [RCV001428102] Chr9:35074198 [GRCh38]
Chr9:35074195 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) duplication Fanconi anemia [RCV001386446]|Fanconi anemia complementation group G [RCV001826168] Chr9:35075587..35075588 [GRCh38]
Chr9:35075584..35075585 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1422T>C (p.Ser474=) single nucleotide variant Fanconi anemia [RCV001430860] Chr9:35075476 [GRCh38]
Chr9:35075473 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.689del (p.Ser230fs) deletion Fanconi anemia [RCV001390140] Chr9:35077059 [GRCh38]
Chr9:35077056 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1581C>T (p.Ser527=) single nucleotide variant Fanconi anemia [RCV001463914] Chr9:35074982 [GRCh38]
Chr9:35074979 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1770C>G (p.Pro590=) single nucleotide variant Fanconi anemia [RCV001465327] Chr9:35074207 [GRCh38]
Chr9:35074204 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.314A>G (p.Glu105Gly) single nucleotide variant Fanconi anemia complementation group G [RCV002254840] Chr9:35078337 [GRCh38]
Chr9:35078334 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.844C>T (p.Pro282Ser) single nucleotide variant Fanconi anemia [RCV002258670] Chr9:35076804 [GRCh38]
Chr9:35076801 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_004629.2(FANCG):c.761C>T (p.Ser254Phe) single nucleotide variant Fanconi anemia complementation group G [RCV001761518] Chr9:35076987 [GRCh38]
Chr9:35076984 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.541C>G (p.Leu181Val) single nucleotide variant Fanconi anemia complementation group G [RCV001761519] Chr9:35077369 [GRCh38]
Chr9:35077366 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.308-11A>G single nucleotide variant Fanconi anemia [RCV002540705]|Fanconi anemia complementation group G [RCV001761520] Chr9:35078354 [GRCh38]
Chr9:35078351 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance
NM_004629.2(FANCG):c.706G>A (p.Ala236Thr) single nucleotide variant Fanconi anemia [RCV002258669] Chr9:35077042 [GRCh38]
Chr9:35077039 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe) single nucleotide variant Fanconi anemia [RCV002258664] Chr9:35074468 [GRCh38]
Chr9:35074465 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.910G>T (p.Glu304Ter) single nucleotide variant Fanconi anemia complementation group G [RCV001783263] Chr9:35076738 [GRCh38]
Chr9:35076735 [GRCh37]
Chr9:9p13.3		 pathogenic
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn) single nucleotide variant Fanconi anemia [RCV001775469] Chr9:35075007 [GRCh38]
Chr9:35075004 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys) single nucleotide variant Fanconi anemia [RCV002258311]|Fanconi anemia complementation group G [RCV001788965] Chr9:35076979 [GRCh38]
Chr9:35076976 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.109C>G (p.Leu37Val) single nucleotide variant Fanconi anemia complementation group G [RCV001761522] Chr9:35079217 [GRCh38]
Chr9:35079214 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr) single nucleotide variant Fanconi anemia complementation group G [RCV001761521] Chr9:35074474 [GRCh38]
Chr9:35074471 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1838G>A (p.Arg613Gln) single nucleotide variant not provided [RCV001757561] Chr9:35074139 [GRCh38]
Chr9:35074136 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.646+12A>G single nucleotide variant Fanconi anemia [RCV002074312]|Fanconi anemia complementation group G [RCV002506851]|not specified [RCV001819504] Chr9:35077252 [GRCh38]
Chr9:35077249 [GRCh37]
Chr9:9p13.3		 benign|likely benign
NM_004629.2(FANCG):c.-8C>T single nucleotide variant not specified [RCV001819540] Chr9:35079532 [GRCh38]
Chr9:35079529 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile) single nucleotide variant Fanconi anemia complementation group G [RCV002503320]|not specified [RCV001820540] Chr9:35075544 [GRCh38]
Chr9:35075541 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.835T>G (p.Trp279Gly) single nucleotide variant not specified [RCV001822226] Chr9:35076813 [GRCh38]
Chr9:35076810 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_004629.2(FANCG):c.948C>A (p.Ser316=) single nucleotide variant not specified [RCV001822537] Chr9:35076560 [GRCh38]
Chr9:35076557 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.984A>G (p.Leu328=) single nucleotide variant Fanconi anemia [RCV003120707]|not specified [RCV001819362] Chr9:35076524 [GRCh38]
Chr9:35076521 [GRCh37]
Chr9:9p13.3		 likely benign
NM_004629.2(FANCG):c.1865T>C (p.Leu622Pro)