B3GALT6 (beta-1,3-galactosyltransferase 6)

Gene: B3GALT6 (beta-1,3-galactosyltransferase 6) Homo sapiens

Analyze

Symbol:

B3GALT6

Name:

beta-1,3-galactosyltransferase 6

RGD ID:

1319963

HGNC Page

HGNC:17978

Description:

Enables galactosylxylosylprotein 3-beta-galactosyltransferase activity. Involved in glycosaminoglycan biosynthetic process and proteoglycan biosynthetic process. Located in Golgi medial cisterna. Implicated in Ehlers-Danlos syndrome spondylodysplastic type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ALGAZ; beta-1,3-GalTase 6; beta3Gal-T6; beta3GalT6; EDSP2; EDSSPD2; GAG GalTII; galactosyltransferase II; galactosylxylosylprotein 3-beta-galactosyltransferase; SEMDJL1; UDP-Gal:betaGal beta 1,3-galactosyltransferase 6; UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	1,232,237 - 1,235,041 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	1,232,237 - 1,235,041 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	1,167,617 - 1,170,421 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	1,157,492 - 1,160,284 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	1,207,567 - 1,210,341	NCBI
Celera	1	1,413,233 - 1,416,025 (-)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	424,537 - 441,998 (+)	NCBI		HuRef
CHM1_1	1	1,154,101 - 1,157,447 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	660,694 - 663,498 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Al-Gazali Syndrome (IAGP)

chromosome 1p36 deletion syndrome (IAGP)

congenital myasthenic syndrome 8 (IAGP)

dilated cardiomyopathy 1LL (IAGP)

Ehlers-Danlos syndrome spondylodysplastic type 1 (EXP)

Ehlers-Danlos syndrome spondylodysplastic type 2 (IAGP)

genetic disease (IAGP)

Goldberg-Shprintzen syndrome (IAGP)

immunodeficiency 16 (IAGP)

immunodeficiency 38 (IAGP)

Joubert syndrome 25 (IAGP)

Neurodevelopmental Disorders (IAGP)

Peroxisome Biogenesis Disorder, Complementation Group 7 (IAGP)

Shprintzen-Goldberg Craniosynostosis (IAGP)

spondyloepimetaphyseal dysplasia with joint laxity (IAGP)

spondyloepimetaphyseal dysplasia with joint laxity type 1 (EXP,IAGP)

spondyloepiphyseal dysplasia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (ISO)

acetamide (ISO)

acrylamide (EXP)

all-trans-retinoic acid (EXP)

antimycin A (EXP)

aristolochic acid A (EXP)

atrazine (EXP)

azoxystrobin (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

butanal (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

choline (ISO)

curcumin (EXP)

cyclosporin A (EXP)

deguelin (EXP)

disodium selenite (EXP)

doxorubicin (EXP)

endosulfan (ISO)

ethanol (ISO)

fenpyroximate (EXP)

folic acid (ISO)

gallic acid (EXP)

gentamycin (ISO)

hydrogen peroxide (EXP)

iron dichloride (EXP)

ivermectin (EXP)

L-methionine (ISO)

lead diacetate (ISO)

menadione (EXP)

N-methyl-4-phenylpyridinium (ISO)

nickel atom (EXP)

picoxystrobin (EXP)

pyrimidifen (EXP)

rotenone (EXP)

sunitinib (EXP)

tebufenpyrad (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

carbohydrate derivative biosynthetic process (IEA)

chondroitin sulfate biosynthetic process (IEA)

glycosaminoglycan biosynthetic process (IBA,IEA,IMP,ISO)

glycosaminoglycan metabolic process (TAS)

heparan sulfate proteoglycan biosynthetic process (IEA)

protein glycosylation (IEA)

protein O-linked glycosylation (IBA)

proteoglycan biosynthetic process (IMP)

Cellular Component

endomembrane system (IEA)

Golgi apparatus (IEA,IMP,ISO)

Golgi cisterna membrane (IEA)

Golgi medial cisterna (IDA,IEA)

Golgi membrane (IBA,IEA,TAS)

membrane (HDA,IEA)

organelle membrane (IEA)

Molecular Function

galactosylxylosylprotein 3-beta-galactosyltransferase activity (IBA,IEA,IMP,TAS)

glycosyltransferase activity (IEA)

hexosyltransferase activity (IEA)

UDP-galactosyltransferase activity (IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

chondroitin sulfate biosynthetic pathway (IEA)

heparan sulfate biosynthetic pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

11 pairs of ribs (IAGP)

Abnormal rib cage morphology (IAGP)

Acetabular dysplasia (IAGP)

Adducted thumb (IAGP)

Advanced ossification of carpal bones (IAGP)

Anterior atlanto-occipital dislocation (IAGP)

Anteverted nares (IAGP)

Aortic root aneurysm (IAGP)

Arachnodactyly (IAGP)

Ascending tubular aorta aneurysm (IAGP)

Atelectasis (IAGP)

Atlantoaxial dislocation (IAGP)

Atrial septal defect (IAGP)

Atrophic scars (IAGP)

Autosomal recessive inheritance (IAGP)

Basilar invagination (IAGP)

Beaking of vertebral bodies (IAGP)

Bicuspid aortic valve (IAGP)

Bilateral talipes equinovarus (IAGP)

Blue sclerae (IAGP)

Bowed humerus (IAGP)

Bowing of the long bones (IAGP)

Broad distal phalanx of finger (IAGP)

Bruising susceptibility (IAGP)

Carious teeth (IAGP)

Carpal synostosis (IAGP)

Cervical spine instability (IAGP)

Cleft palate (IAGP)

Congenital kyphoscoliosis (IAGP)

Corneal opacity (IAGP)

Coxa valga (IAGP)

Craniosynostosis (IAGP)

Cupped ribs (IAGP)

Cutis laxa (IAGP)

Decreased body weight (IAGP)

Delayed proximal femoral epiphyseal ossification (IAGP)

Delayed speech and language development (IAGP)

Dentinogenesis imperfecta (IAGP)

Depressed nasal bridge (IAGP)

Dermal translucency (IAGP)

Dislocated radial head (IAGP)

Dysplasia of the femoral head (IAGP)

Ectopia lentis (IAGP)

Epiphyseal dysplasia (IAGP)

Failure to thrive (IAGP)

Flared iliac wing (IAGP)

Flared metaphysis (IAGP)

Flaring of rib cage (IAGP)

Flat face (IAGP)

Flexion contracture (IAGP)

Fragile skin (IAGP)

Frontal bossing (IAGP)

Gastrojejunal tube feeding in infancy (IAGP)

Generalized hypotonia (IAGP)

Generalized-onset seizure (IAGP)

Genu valgum (IAGP)

Glaucoma (IAGP)

Global developmental delay (IAGP)

Hallux valgus (IAGP)

High palate (IAGP)

Hip dislocation (IAGP)

Hip dysplasia (IAGP)

Hip subluxation (IAGP)

Hydrocephalus (IAGP)

Hydronephrosis (IAGP)

Hyperextensible skin (IAGP)

Hypoplastic ilia (IAGP)

Hypoplastic iliac body (IAGP)

Hypotonia (IAGP)

Increased susceptibility to fractures (IAGP)

Infantile onset (IAGP)

Irregular vertebral endplates (IAGP)

Joint contracture (IAGP)

Joint hypermobility (IAGP)

Kyphoscoliosis (IAGP)

Large iliac wing (IAGP)

Large joint dislocations (IAGP)

Long philtrum (IAGP)

Long upper lip (IAGP)

Low-set ears (IAGP)

Malar flattening (IAGP)

Metaphyseal widening (IAGP)

Metatarsus adductus (IAGP)

Microcornea (IAGP)

Microdontia (IAGP)

Micrognathia (IAGP)

Midface retrusion (IAGP)

Mitral regurgitation (IAGP)

Mitral valve prolapse (IAGP)

Mixed hearing impairment (IAGP)

Motor delay (IAGP)

Multiple joint contractures (IAGP)

Multiple joint dislocation (IAGP)

Myopia (IAGP)

Neonatal hypotonia (IAGP)

Oligohydramnios (IAGP)

Osteopenia (IAGP)

Osteoporosis (IAGP)

Oval face (IAGP)

Ovoid vertebral bodies (IAGP)

Paraplegia (IAGP)

Pathologic fracture (IAGP)

Pectus carinatum (IAGP)

Pectus excavatum (IAGP)

Peripapillary atrophy (IAGP)

Pes planus (IAGP)

Phalangeal dislocation (IAGP)

Plagiocephaly (IAGP)

Platyspondyly (IAGP)

Polyhydramnios (IAGP)

Posteriorly rotated ears (IAGP)

Postnatal growth retardation (IAGP)

Prominent forehead (IAGP)

Proptosis (IAGP)

Proximal radio-ulnar synostosis (IAGP)

Pulmonary hypoplasia (IAGP)

Radial bowing (IAGP)

Radial head subluxation (IAGP)

Radioulnar synostosis (IAGP)

Recurrent fractures (IAGP)

Recurrent pneumonia (IAGP)

Renal neoplasm (IAGP)

Repeated pneumothoraces (IAGP)

Respiratory distress (IAGP)

Respiratory insufficiency (IAGP)

Restrictive ventilatory defect (IAGP)

Sclerocornea (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

Severe short stature (IAGP)

Short femoral neck (IAGP)

Short long bone (IAGP)

Short metacarpal (IAGP)

Short nail (IAGP)

Short neck (IAGP)

Short nose (IAGP)

Short stature (IAGP)

Slender long bone (IAGP)

Slender long bones with narrow diaphyses (IAGP)

Soft skin (IAGP)

Soft, doughy skin (IAGP)

Sparse hair (IAGP)

Sparse scalp hair (IAGP)

Spinal cord compression (IAGP)

Spondyloepimetaphyseal dysplasia (IAGP)

Spondyloepiphyseal dysplasia (IAGP)

Stroke (IAGP)

Talipes equinovarus (IAGP)

Thin skin (IAGP)

Thoracic aortic aneurysm (IAGP)

Torticollis (IAGP)

Tracheomalacia (IAGP)

Ventricular septal defect (IAGP)

Wrist flexion contracture (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
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

Additional References at PubMed

PMID:9892646	PMID:11551958	PMID:12477932	PMID:15231747	PMID:16710414	PMID:19913121	PMID:19946888	PMID:20628086	PMID:21873635	PMID:23664117	PMID:23664118	PMID:26186194
PMID:28514442	PMID:29150431	PMID:29443383	PMID:29507755	PMID:29931299	PMID:31614862	PMID:31741433	PMID:32517548	PMID:32807901	PMID:33631843	PMID:33845483	PMID:33853758
PMID:33961781	PMID:34079125	PMID:34159694	PMID:34709727	PMID:35696571	PMID:35944360	PMID:36244648	PMID:36538041	PMID:36779763	PMID:38065100

Genomics

Comparative Map Data

B3GALT6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	1,232,237 - 1,235,041 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	1,232,237 - 1,235,041 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	1,167,617 - 1,170,421 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	1,157,492 - 1,160,284 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	1,207,567 - 1,210,341	NCBI
Celera	1	1,413,233 - 1,416,025 (-)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	424,537 - 441,998 (+)	NCBI		HuRef
CHM1_1	1	1,154,101 - 1,157,447 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	660,694 - 663,498 (+)	NCBI		T2T-CHM13v2.0

B3galt6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	156,073,923 - 156,077,135 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	156,073,923 - 156,077,106 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	155,989,466 - 155,992,678 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	155,989,466 - 155,992,649 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	155,363,575 - 155,366,787 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	154,834,329 - 154,836,449 (-)	NCBI		MGSCv36	mm8
MGSCv36	4	151,449,369 - 151,451,489 (-)	NCBI		MGSCv36	mm8
Celera	4	158,252,690 - 158,255,872 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	87.66	NCBI

B3galt6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	171,866,428 - 171,868,564 (-)	NCBI		GRCr8
mRatBN7.2	5	166,584,202 - 166,586,338 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	166,584,202 - 166,586,338 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	169,287,811 - 169,289,948 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	171,109,235 - 171,111,372 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	171,071,769 - 171,073,906 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	173,423,475 - 173,425,611 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	173,423,475 - 173,425,611 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	176,899,096 - 176,901,232 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	172,833,647 - 172,835,783 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	172,845,264 - 172,846,243 (-)	NCBI
Celera	5	164,784,930 - 164,787,066 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

B3galt6
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955486	9,554,435 - 9,555,459 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	9,553,765 - 9,555,675 (-)	NCBI	ChiLan1.0	ChiLan1.0

B3GALT6
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	226,991,483 - 226,993,424 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	225,688,659 - 225,690,138 (-)	NCBI		NHGRI_mPanPan1
PanPan1.1	1	1,188,683 - 1,191,648 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

B3GALT6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	56,421,687 - 56,423,120 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	56,405,372 - 56,422,771 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	56,498,687 - 56,502,557 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	56,624,609 - 56,628,479 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	56,624,609 - 56,625,598 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	56,615,345 - 56,619,215 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	56,507,624 - 56,511,494 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	56,897,625 - 56,901,495 (+)	NCBI		UU_Cfam_GSD_1.0

B3galt6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	27,577,097 - 27,578,700 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936737	1,887,855 - 1,888,826 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936737	1,887,250 - 1,889,055 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

B3GALT6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	63,540,141 - 63,541,112 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	63,540,066 - 63,541,962 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	57,996,301 - 57,998,407 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

B3GALT6
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	130,210,828 - 130,212,732 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	130,211,718 - 130,212,707 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	34,778,673 - 34,781,453 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

B3galt6
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624818	8,360,849 - 8,361,817 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	8,360,321 - 8,361,975 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in B3GALT6
286 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	copy number loss	Primary dilated cardiomyopathy [RCV000626523]	Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000651599]\|not provided [RCV001591183]	Chr1:1232289..1232290 [GRCh38] Chr1:1167669..1167670 [GRCh37] Chr1:1p36.33	benign\|likely benign\|uncertain significance
NM_080605.4(B3GALT6):c.239G>A (p.Trp80Ter)	single nucleotide variant	not provided [RCV000520848]	Chr1:1232517 [GRCh38] Chr1:1167897 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001365605]\|not provided [RCV000520086]	Chr1:1232313 [GRCh38] Chr1:1167693 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	single nucleotide variant	B3GALT6-related condition [RCV003944971]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001853073]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054390]\|not provided [RCV001560169]	Chr1:1232279 [GRCh38] Chr1:1167659 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)	single nucleotide variant	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054393]	Chr1:1233177 [GRCh38] Chr1:1168557 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.353del (p.Asp118fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054396]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002513707]	Chr1:1232631 [GRCh38] Chr1:1168011 [GRCh37] Chr1:1p36.33	pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.588del (p.Arg197fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054398]	Chr1:1232860 [GRCh38] Chr1:1168240 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054400]	Chr1:1232685..1232693 [GRCh38] Chr1:1168065..1168073 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.323_344del (p.Ala108fs)	deletion	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV000054403]	Chr1:1232595..1232616 [GRCh38] Chr1:1167975..1167996 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|See cases [RCV000050339]	Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2	benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	copy number loss	See cases [RCV000050857]	Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	copy number loss	See cases [RCV000050882]	Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	copy number loss	See cases [RCV000050642]	Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	copy number loss	See cases [RCV000050647]	Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000050752]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	copy number loss	See cases [RCV000051143]	Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	copy number gain	See cases [RCV000051779]	Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	copy number gain	See cases [RCV000051780]	Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	copy number gain	See cases [RCV000051781]	Chr1:832679..1254039 [GRCh38] Chr1:768059..1189419 [GRCh37] Chr1:757922..1179282 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|See cases [RCV000051782]	Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	copy number loss	See cases [RCV000052043]	Chr1:844347..2131805 [GRCh38] Chr1:779727..2063244 [GRCh37] Chr1:769590..2053104 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	copy number loss	See cases [RCV000052044]	Chr1:845437..2523513 [GRCh38] Chr1:780817..2454952 [GRCh37] Chr1:770680..2444812 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	copy number loss	See cases [RCV000052063]	Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	copy number loss	See cases [RCV000052064]	Chr1:872305..2047715 [GRCh38] Chr1:807685..1979154 [GRCh37] Chr1:797548..1969014 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	copy number loss	See cases [RCV000052065]	Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	copy number loss	See cases [RCV000052066]	Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	copy number gain	See cases [RCV000052067]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	copy number loss	See cases [RCV000052068]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|See cases [RCV000052069]	Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	copy number loss	See cases [RCV000051994]	Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	copy number loss	See cases [RCV000052070]	Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	copy number loss	See cases [RCV000051996]	Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1	copy number loss	See cases [RCV000052014]	Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1	copy number loss	See cases [RCV000052015]	Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|See cases [RCV000052016]	Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1	copy number loss	See cases [RCV000052017]	Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1	copy number loss	See cases [RCV000052018]	Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|See cases [RCV000052037]	Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|See cases [RCV000052039]	Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	copy number loss	See cases [RCV000052040]	Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|See cases [RCV000052041]	Chr1:844347..2014739 [GRCh38] Chr1:779727..1946178 [GRCh37] Chr1:769590..1936038 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003764725]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054391]\|not provided [RCV001753471]	Chr1:1232972 [GRCh38] Chr1:1168352 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn)	single nucleotide variant	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054392]	Chr1:1232744 [GRCh38] Chr1:1168124 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly)	single nucleotide variant	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054394]	Chr1:1232471 [GRCh38] Chr1:1167851 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001853074]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054395]	Chr1:1232478 [GRCh38] Chr1:1167858 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054397]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003764726]\|not provided [RCV003236774]	Chr1:1233203 [GRCh38] Chr1:1168583 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054399]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002513708]	Chr1:1232294 [GRCh38] Chr1:1167674 [GRCh37] Chr1:1p36.33	pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.619G>C (p.Asp207His)	single nucleotide variant	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV000054401]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV003225928]	Chr1:1232897 [GRCh38] Chr1:1168277 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.649G>A (p.Gly217Ser)	single nucleotide variant	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV000054402]	Chr1:1232927 [GRCh38] Chr1:1168307 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001302521]	Chr1:1232887 [GRCh38] Chr1:1168267 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.227del (p.Ile76fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001290346]	Chr1:1232505 [GRCh38] Chr1:1167885 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001290345]	Chr1:1233044 [GRCh38] Chr1:1168424 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001520488]\|not provided [RCV000887201]\|not specified [RCV000173549]	Chr1:1233187 [GRCh38] Chr1:1168567 [GRCh37] Chr1:1p36.33	benign\|likely benign
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000651598]\|not specified [RCV000173550]	Chr1:1232416 [GRCh38] Chr1:1167796 [GRCh37] Chr1:1p36.33	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_080605.4(B3GALT6):c.22T>G (p.Trp8Gly)	single nucleotide variant	not provided [RCV000173551]	Chr1:1232300 [GRCh38] Chr1:1167680 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	copy number gain	See cases [RCV000133658]	Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	copy number loss	See cases [RCV000134145]	Chr1:1013081..1722599 [GRCh38] Chr1:948461..1654038 [GRCh37] Chr1:938324..1643898 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	copy number loss	See cases [RCV000134211]	Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	copy number loss	See cases [RCV000134747]	Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	copy number gain	See cases [RCV000134750]	Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	copy number loss	See cases [RCV000134137]	Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	copy number loss	See cases [RCV000134055]	Chr1:844353..2420916 [GRCh38] Chr1:779733..2352355 [GRCh37] Chr1:769596..2342215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	copy number gain	See cases [RCV000134939]	Chr1:932163..1792271 [GRCh38] Chr1:867543..1723710 [GRCh37] Chr1:857406..1713570 [NCBI36] Chr1:1p36.33	likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	copy number loss	See cases [RCV000136715]	Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	copy number loss	See cases [RCV000137380]	Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	copy number loss	See cases [RCV000138225]	Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	copy number gain	See cases [RCV000138165]	Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	copy number loss	See cases [RCV000137890]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	copy number gain	See cases [RCV000137894]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	copy number loss	See cases [RCV000137978]	Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	copy number loss	See cases [RCV000138704]	Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	copy number loss	See cases [RCV000138883]	Chr1:1072906..2806838 [GRCh38] Chr1:1008286..2723403 [GRCh37] Chr1:998149..2713263 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	copy number loss	See cases [RCV000139404]	Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	copy number loss	See cases [RCV000140164]	Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	copy number loss	See cases [RCV000139876]	Chr1:821713..2554047 [GRCh38] Chr1:757093..2485486 [GRCh37] Chr1:746956..2479281 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	copy number loss	See cases [RCV000139780]	Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	copy number loss	See cases [RCV000141208]	Chr1:821713..2636393 [GRCh38] Chr1:757093..2567832 [GRCh37] Chr1:746956..2557692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	copy number loss	See cases [RCV000141318]	Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	copy number loss	See cases [RCV000141227]	Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	copy number loss	See cases [RCV000141356]	Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	copy number loss	See cases [RCV000140709]	Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	copy number loss	See cases [RCV000140892]	Chr1:914086..2465738 [GRCh38] Chr1:849466..2397177 [GRCh37] Chr1:839329..2387037 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	copy number loss	See cases [RCV000140894]	Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	copy number loss	See cases [RCV000141668]	Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	copy number loss	See cases [RCV000142178]	Chr1:914086..1538895 [GRCh38] Chr1:849466..1474275 [GRCh37] Chr1:839329..1464138 [NCBI36] Chr1:1p36.33	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	copy number loss	See cases [RCV000142754]	Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	copy number loss	See cases [RCV000143224]	Chr1:914086..1613769 [GRCh38] Chr1:849466..1549149 [GRCh37] Chr1:839329..1539012 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000148161]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	copy number loss	See cases [RCV000240189]	Chr1:874455..2577794 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	copy number gain	Distal trisomy 1p36 [RCV000519759]	Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	copy number loss	See cases [RCV000240333]	Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001882678]\|not provided [RCV001571427]	Chr1:1232551 [GRCh38] Chr1:1167931 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001855087]\|not provided [RCV000724945]	Chr1:1232865 [GRCh38] Chr1:1168245 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.180A>G (p.Ala60=)	single nucleotide variant	not provided [RCV000380808]	Chr1:1232458 [GRCh38] Chr1:1167838 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)	single nucleotide variant	B3GALT6-related condition [RCV003967728]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002518886]\|not provided [RCV000389593]	Chr1:1233112 [GRCh38] Chr1:1168492 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001514849]\|not specified [RCV000287240]	Chr1:1232800 [GRCh38] Chr1:1168180 [GRCh37] Chr1:1p36.33	benign
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001503677]\|Inborn genetic diseases [RCV003165730]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001332792]\|not provided [RCV000360273]	Chr1:1233131 [GRCh38] Chr1:1168511 [GRCh37] Chr1:1p36.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003765678]\|not provided [RCV000295132]	Chr1:1232977 [GRCh38] Chr1:1168357 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)	single nucleotide variant	B3GALT6-related condition [RCV003920063]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001085553]\|not provided [RCV000725260]	Chr1:1233031 [GRCh38] Chr1:1168411 [GRCh37] Chr1:1p36.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001243819]\|not provided [RCV000489770]	Chr1:1232289..1232290 [GRCh38] Chr1:1167669..1167670 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.338A>G (p.Gln113Arg)	single nucleotide variant	not provided [RCV000488044]	Chr1:1232616 [GRCh38] Chr1:1167996 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003097816]\|not provided [RCV002292716]	Chr1:1232618 [GRCh38] Chr1:1167998 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	duplication	Al-Gazali syndrome [RCV001824140]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001856913]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001267718]\|not provided [RCV000488976]	Chr1:1232859..1232860 [GRCh38] Chr1:1168239..1168240 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	copy number loss	See cases [RCV002285055]	Chr1:849466..2518608 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.475T>C (p.Ser159Pro)	single nucleotide variant	not provided [RCV000593355]	Chr1:1232753 [GRCh38] Chr1:1168133 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001858048]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002470900]\|Inborn genetic diseases [RCV003258852]\|not provided [RCV000522158]	Chr1:1233096 [GRCh38] Chr1:1168476 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001347231]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002250669]\|not provided [RCV000591509]	Chr1:1232355 [GRCh38] Chr1:1167735 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002067144]\|not provided [RCV000733140]	Chr1:1232863 [GRCh38] Chr1:1168243 [GRCh37] Chr1:1p36.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000970550]\|Inborn genetic diseases [RCV002523943]\|not provided [RCV001579634]\|not specified [RCV000413594]	Chr1:1232793 [GRCh38] Chr1:1168173 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000766204]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001855715]\|not provided [RCV003222124]	Chr1:1232823 [GRCh38] Chr1:1168203 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3	copy number gain	See cases [RCV000449132]	Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1	copy number loss	See cases [RCV000449148]	Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1	copy number loss	See cases [RCV000449322]	Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	copy number gain	See cases [RCV000447000]	Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1	copy number loss	See cases [RCV000446544]	Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	copy number loss	See cases [RCV000447515]	Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002060060]\|not specified [RCV000441345]	Chr1:1232324 [GRCh38] Chr1:1167704 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001064480]\|not provided [RCV000444888]	Chr1:1232309 [GRCh38] Chr1:1167689 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)	single nucleotide variant	B3GALT6-related condition [RCV003960005]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001455966]\|Inborn genetic diseases [RCV002522683]\|not provided [RCV000983841]	Chr1:1232385 [GRCh38] Chr1:1167765 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)	single nucleotide variant	B3GALT6-related condition [RCV003902613]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000880818]\|not provided [RCV001698348]	Chr1:1232735 [GRCh38] Chr1:1168115 [GRCh37] Chr1:1p36.33	benign\|uncertain significance
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001861594]\|Inborn genetic diseases [RCV002526331]\|not provided [RCV000432423]	Chr1:1232645 [GRCh38] Chr1:1168025 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001404152]\|not provided [RCV000513657]\|not specified [RCV000425752]	Chr1:1232861 [GRCh38] Chr1:1168241 [GRCh37] Chr1:1p36.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_080605.4(B3GALT6):c.-23G>A	single nucleotide variant	not specified [RCV000433352]	Chr1:1232256 [GRCh38] Chr1:1167636 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1	copy number loss	See cases [RCV000448903]	Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	copy number loss	See cases [RCV000512052]	Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)	microsatellite	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001856857]\|not provided [RCV000485868]	Chr1:1232632..1232633 [GRCh38] Chr1:1168012..1168013 [GRCh37] Chr1:1p36.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001298222]\|not provided [RCV000478140]	Chr1:1232882 [GRCh38] Chr1:1168262 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	copy number loss	See cases [RCV000510640]	Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3	copy number gain	See cases [RCV000510511]	Chr1:849466..1663402 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1	copy number loss	See cases [RCV000511408]	Chr1:849466..2607016 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1	copy number loss	See cases [RCV000512029]	Chr1:849466..2330338 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1	copy number loss	See cases [RCV000511834]	Chr1:849466..2748837 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	single nucleotide variant	Al-Gazali syndrome [RCV002475976]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001034688]\|Inborn genetic diseases [RCV002527086]\|not provided [RCV000493202]	Chr1:1232295 [GRCh38] Chr1:1167675 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1	copy number loss	See cases [RCV000510858]	Chr1:849466..2554275 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001090033]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV001090032]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000625553]\|not provided [RCV003133412]	Chr1:1232834 [GRCh38] Chr1:1168214 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003767764]\|not provided [RCV001707845]	Chr1:1232290 [GRCh38] Chr1:1167670 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.112G>A (p.Asp38Asn)	single nucleotide variant	Inborn genetic diseases [RCV003281400]	Chr1:1232390 [GRCh38] Chr1:1167770 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.446del (p.Phe149fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001299488]	Chr1:1232723 [GRCh38] Chr1:1168103 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003767500]\|not provided [RCV001722645]	Chr1:1232644 [GRCh38] Chr1:1168024 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.54G>C (p.Thr18=)	single nucleotide variant	not specified [RCV000616303]	Chr1:1232332 [GRCh38] Chr1:1167712 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.825C>T (p.Tyr275=)	single nucleotide variant	not specified [RCV000607905]	Chr1:1233103 [GRCh38] Chr1:1168483 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002529693]\|not specified [RCV000610534]	Chr1:1232860 [GRCh38] Chr1:1168240 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.165C>T (p.Ala55=)	single nucleotide variant	not specified [RCV000610843]	Chr1:1232443 [GRCh38] Chr1:1167823 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.-38G>A	single nucleotide variant	not specified [RCV000613949]	Chr1:1232241 [GRCh38] Chr1:1167621 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002065254]\|not provided [RCV000938660]	Chr1:1232908 [GRCh38] Chr1:1168288 [GRCh37] Chr1:1p36.33	likely benign
NC_000001.11:g.(?_1020153)_(1313808_?)del	deletion	Congenital myasthenic syndrome 8 [RCV000651427]	Chr1:1020153..1313808 [GRCh38] Chr1:955533..1249188 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=)	single nucleotide variant	B3GALT6-related condition [RCV003927977]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001399256]\|not provided [RCV000959812]	Chr1:1232755 [GRCh38] Chr1:1168135 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1	copy number loss	not provided [RCV000684531]	Chr1:849466..1314437 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1	copy number loss	not provided [RCV000684532]	Chr1:849466..2240632 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	copy number loss	not provided [RCV000684533]	Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1	copy number loss	not provided [RCV000684535]	Chr1:1129318..2040693 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000707160]\|not provided [RCV001560350]	Chr1:1232666 [GRCh38] Chr1:1168046 [GRCh37] Chr1:1p36.33	benign\|likely benign\|uncertain significance
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001326192]	Chr1:1232514 [GRCh38] Chr1:1167894 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001341729]\|Inborn genetic diseases [RCV001266136]	Chr1:1232933 [GRCh38] Chr1:1168313 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003771740]\|not provided [RCV001571312]	Chr1:1232632 [GRCh38] Chr1:1168012 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1	copy number loss	not provided [RCV000736294]	Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:82154-1226512)x3	copy number gain	not provided [RCV000736300]	Chr1:82154..1226512 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:82154-1289835)x3	copy number gain	not provided [RCV000736301]	Chr1:82154..1289835 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:82154-1289863)x3	copy number gain	not provided [RCV000736302]	Chr1:82154..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1	copy number loss	not provided [RCV000736303]	Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:727037-1366830)x1	copy number loss	not provided [RCV000748800]	Chr1:727037..1366830 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1	copy number loss	not provided [RCV000748814]	Chr1:977062..5179574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1060174-1196471)x3	copy number gain	not provided [RCV000748818]	Chr1:1060174..1196471 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1121794-1346905)x3	copy number gain	not provided [RCV000748819]	Chr1:1121794..1346905 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1130727-1179762)x3	copy number gain	not provided [RCV000748821]	Chr1:1130727..1179762 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1130727-1289863)x3	copy number gain	not provided [RCV000748822]	Chr1:1130727..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1138913-1226512)x3	copy number gain	not provided [RCV000748823]	Chr1:1138913..1226512 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:1138913-1289863)x3	copy number gain	not provided [RCV000748824]	Chr1:1138913..1289863 [GRCh37] Chr1:1p36.33	benign
NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln)	single nucleotide variant	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001332789]\|not provided [RCV000761628]	Chr1:1232591 [GRCh38] Chr1:1167971 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter)	single nucleotide variant	not provided [RCV000993879]	Chr1:1232959 [GRCh38] Chr1:1168339 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000983945]\|Inborn genetic diseases [RCV002549614]\|not provided [RCV001712832]	Chr1:1232387 [GRCh38] Chr1:1167767 [GRCh37] Chr1:1p36.33	benign\|uncertain significance
NM_080605.4(B3GALT6):c.879G>A (p.Leu293=)	single nucleotide variant	not provided [RCV000927522]	Chr1:1233157 [GRCh38] Chr1:1168537 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001393999]	Chr1:1232563 [GRCh38] Chr1:1167943 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.150C>A (p.Pro50=)	single nucleotide variant	not provided [RCV000922374]	Chr1:1232428 [GRCh38] Chr1:1167808 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002065684]	Chr1:1232786 [GRCh38] Chr1:1168166 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001504959]\|Inborn genetic diseases [RCV002550580]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001332788]\|not provided [RCV000983856]	Chr1:1232388 [GRCh38] Chr1:1167768 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	copy number gain	See cases [RCV001007411]	Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767775]	Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767776]	Chr1:568708..2567832 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:568708-1283779)	copy number loss	not provided [RCV000767825]	Chr1:568708..1283779 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003768797]	Chr1:1232512 [GRCh38] Chr1:1167892 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001513980]\|Inborn genetic diseases [RCV002540761]\|not provided [RCV000907266]	Chr1:1232763 [GRCh38] Chr1:1168143 [GRCh37] Chr1:1p36.33	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NC_000001.10:g.(?_955543)_(2957600_?)del	deletion	Shprintzen-Goldberg syndrome [RCV000816642]	Chr1:955543..2957600 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter)	single nucleotide variant	Spondyloepiphyseal dysplasia [RCV000825512]	Chr1:1233041 [GRCh38] Chr1:1168421 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000818547]\|Inborn genetic diseases [RCV002537434]\|not provided [RCV001093298]	Chr1:1232619 [GRCh38] Chr1:1167999 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002545894]	Chr1:1232288 [GRCh38] Chr1:1167668 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001087062]\|not provided [RCV000839129]	Chr1:1232761 [GRCh38] Chr1:1168141 [GRCh37] Chr1:1p36.33	benign\|likely benign
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	copy number gain	not provided [RCV000846682]	Chr1:727731..2107858 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.693C>G (p.Ser231Arg)	single nucleotide variant	not provided [RCV000993880]	Chr1:1232971 [GRCh38] Chr1:1168351 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1146915)_(1168668_?)dup	duplication	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000813334]	Chr1:1211535..1233288 [GRCh38] Chr1:1146915..1168668 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001858578]\|not provided [RCV000918734]	Chr1:1232453 [GRCh38] Chr1:1167833 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:958859-1211292)x3	copy number gain	not provided [RCV000847774]	Chr1:958859..1211292 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	copy number loss	not provided [RCV003312163]	Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001858777]\|not provided [RCV000993878]	Chr1:1232954 [GRCh38] Chr1:1168334 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001238543]\|not provided [RCV001555651]	Chr1:1232337 [GRCh38] Chr1:1167717 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003104565]	Chr1:1232394 [GRCh38] Chr1:1167774 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.11:g.1232071G>A	single nucleotide variant	not provided [RCV001580955]	Chr1:1232071 [GRCh38] Chr1:1167451 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002072141]\|not provided [RCV001563179]	Chr1:1233028 [GRCh38] Chr1:1168408 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002065527]	Chr1:1232860 [GRCh38] Chr1:1168240 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002540792]	Chr1:1232326 [GRCh38] Chr1:1167706 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.189G>A (p.Val63=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002542142]	Chr1:1232467 [GRCh38] Chr1:1167847 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)	single nucleotide variant	Al-Gazali syndrome [RCV001089598]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001040148]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001269281]\|not provided [RCV003145265]	Chr1:1233073 [GRCh38] Chr1:1168453 [GRCh37] Chr1:1p36.33	pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001228109]\|not provided [RCV001760223]	Chr1:1232804 [GRCh38] Chr1:1168184 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002568352]\|not provided [RCV001555176]	Chr1:1232453 [GRCh38] Chr1:1167833 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:849467-1174365)x3	copy number gain	not provided [RCV002473433]	Chr1:849467..1174365 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002072192]\|not provided [RCV001569190]	Chr1:1232359 [GRCh38] Chr1:1167739 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)	single nucleotide variant	Al-Gazali syndrome [RCV002501932]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001866069]\|not provided [RCV001576991]	Chr1:1233173 [GRCh38] Chr1:1168553 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1	copy number loss	not provided [RCV001005056]	Chr1:849466..1649932 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_080605.4(B3GALT6):c.113A>G (p.Asp38Gly)	single nucleotide variant	not provided [RCV001548696]	Chr1:1232391 [GRCh38] Chr1:1167771 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_955543)_(3350385_?)del	deletion	Left ventricular noncompaction 8 [RCV001033604]	Chr1:955543..3350385 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NC_000001.10:g.(?_955543)_(2238214_?)del	deletion	Congenital myasthenic syndrome 8 [RCV001033252]	Chr1:955543..2238214 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002539610]\|not provided [RCV001665394]	Chr1:1232285 [GRCh38] Chr1:1167665 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001866117]\|Inborn genetic diseases [RCV002573281]\|not provided [RCV001584808]	Chr1:1232861 [GRCh38] Chr1:1168241 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.476C>A (p.Ser159Tyr)	single nucleotide variant	Al-Gazali syndrome [RCV001089597]	Chr1:1232754 [GRCh38] Chr1:1168134 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.618C>G (p.Cys206Trp)	single nucleotide variant	Al-Gazali syndrome [RCV001089599]	Chr1:1232896 [GRCh38] Chr1:1168276 [GRCh37] Chr1:1p36.33	pathogenic
NC_000001.11:g.(?_1013554)_(1313808_?)del	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001032824]	Chr1:948934..1249188 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	copy number loss	not provided [RCV001260110]	Chr1:849466..1806659 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	copy number loss	not provided [RCV001260112]	Chr1:849466..1976788 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	copy number loss	not provided [RCV001260111]	Chr1:849466..2033256 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001313057]	Chr1:1232700 [GRCh38] Chr1:1168080 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001880154]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001267717]\|not provided [RCV001788441]	Chr1:1232725 [GRCh38] Chr1:1168105 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001880111]\|Inborn genetic diseases [RCV001266135]	Chr1:1232736 [GRCh38] Chr1:1168116 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	copy number loss	not provided [RCV001260116]	Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001352213]	Chr1:1232619 [GRCh38] Chr1:1167999 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_948954)_(1284445_?)dup	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001305754]\|not provided [RCV001308818]	Chr1:948954..1284445 [GRCh37] Chr1:1p36.33	uncertain significance\|no classifications from unflagged records
NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001332790]	Chr1:1232762 [GRCh38] Chr1:1168142 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001332791]	Chr1:1232838 [GRCh38] Chr1:1168218 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001368142]	Chr1:1232687 [GRCh38] Chr1:1168067 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001336872]	Chr1:1232891 [GRCh38] Chr1:1168271 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3])	microsatellite	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001313451]	Chr1:1232289..1232290 [GRCh38] Chr1:1167669..1167670 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001373714]\|not provided [RCV003313220]	Chr1:1232909 [GRCh38] Chr1:1168289 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.651del (p.Tyr218fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001371255]	Chr1:1232929 [GRCh38] Chr1:1168309 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	copy number loss	not provided [RCV001270634]	Chr1:753462..1717335 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002010337]\|not provided [RCV002463097]	Chr1:1232788..1232795 [GRCh38] Chr1:1168168..1168175 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001350433]	Chr1:1232942 [GRCh38] Chr1:1168322 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001338221]	Chr1:1232807 [GRCh38] Chr1:1168187 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1146915)_(1168668_?)dup	duplication	Combined immunodeficiency due to OX40 deficiency [RCV001319585]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000813334]	Chr1:1146915..1168668 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001301229]\|not provided [RCV003227953]	Chr1:1232427 [GRCh38] Chr1:1167807 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001360109]	Chr1:1232827 [GRCh38] Chr1:1168207 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001421573]	Chr1:1232294 [GRCh38] Chr1:1167674 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001269280]	Chr1:1233207 [GRCh38] Chr1:1168587 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001338241]\|not provided [RCV001587356]	Chr1:1232816 [GRCh38] Chr1:1168196 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.688_708dup (p.Leu230_Arg236dup)	duplication	not provided [RCV001310828]	Chr1:1232954..1232955 [GRCh38] Chr1:1168334..1168335 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001497341]	Chr1:1232662 [GRCh38] Chr1:1168042 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001472412]	Chr1:1232380 [GRCh38] Chr1:1167760 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001378837]	Chr1:1232280 [GRCh38] Chr1:1167660 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001423856]	Chr1:1233046 [GRCh38] Chr1:1168426 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003120658]\|not provided [RCV001756307]	Chr1:1232832 [GRCh38] Chr1:1168212 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV002247723]	Chr1:817861..1836133 [GRCh38] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.651C>G (p.Gly217=)	single nucleotide variant	not provided [RCV001761361]	Chr1:1232929 [GRCh38] Chr1:1168309 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)	single nucleotide variant	Al-Gazali syndrome [RCV002254380]	Chr1:1233027 [GRCh38] Chr1:1168407 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003771956]\|not provided [RCV001770876]	Chr1:1233164 [GRCh38] Chr1:1168544 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.606del (p.Trp203fs)	deletion	not provided [RCV001774386]	Chr1:1232883 [GRCh38] Chr1:1168263 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.661_662dup (p.Ala222fs)	microsatellite	not provided [RCV001764772]	Chr1:1232935..1232936 [GRCh38] Chr1:1168315..1168316 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.839A>C (p.Lys280Thr)	single nucleotide variant	not provided [RCV001764876]	Chr1:1233117 [GRCh38] Chr1:1168497 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003772146]\|not provided [RCV001780672]	Chr1:1232475..1232484 [GRCh38] Chr1:1167855..1167864 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002540491]\|not provided [RCV001769221]	Chr1:1233234 [GRCh38] Chr1:1168614 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002541175]\|not provided [RCV001780671]	Chr1:1233176..1233177 [GRCh38] Chr1:1168556..1168557 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	copy number loss	not provided [RCV001795535]	Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.-5G>A	single nucleotide variant	not provided [RCV001757164]	Chr1:1232274 [GRCh38] Chr1:1167654 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002025009]	Chr1:1232505 [GRCh38] Chr1:1167885 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001929190]	Chr1:1232423 [GRCh38] Chr1:1167803 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002006419]	Chr1:1233255..1233256 [GRCh38] Chr1:1168635..1168636 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002022186]\|Inborn genetic diseases [RCV002573543]	Chr1:1232714 [GRCh38] Chr1:1168094 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	copy number loss	not provided [RCV001829223]	Chr1:849466..2621542 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)	single nucleotide variant	Al-Gazali syndrome [RCV002503610]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001910641]	Chr1:1232426 [GRCh38] Chr1:1167806 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_989123)_(3160711_?)del	deletion	Left ventricular noncompaction 8 [RCV002004579]	Chr1:989123..3160711 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002023939]	Chr1:1232291 [GRCh38] Chr1:1167671 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001894123]	Chr1:1232491..1232492 [GRCh38] Chr1:1167871..1167872 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001946472]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV002074442]	Chr1:1232798 [GRCh38] Chr1:1168178 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001890457]	Chr1:1232632 [GRCh38] Chr1:1168012 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs)	microsatellite	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001965873]	Chr1:1232303..1232304 [GRCh38] Chr1:1167683..1167684 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001965220]	Chr1:1232387 [GRCh38] Chr1:1167767 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NM_080605.4(B3GALT6):c.448G>C (p.Glu150Gln)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002042839]	Chr1:1232726 [GRCh38] Chr1:1168106 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.667G>A (p.Asp223Asn)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002043900]	Chr1:1232945 [GRCh38] Chr1:1168325 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.150dup (p.Ala51fs)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001968214]	Chr1:1232422..1232423 [GRCh38] Chr1:1167802..1167803 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002007594]	Chr1:1232280 [GRCh38] Chr1:1167660 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001926591]	Chr1:1232456 [GRCh38] Chr1:1167836 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001893421]	Chr1:1232799 [GRCh38] Chr1:1168179 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001969482]	Chr1:1232300..1232301 [GRCh38] Chr1:1167680..1167681 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002005527]	Chr1:1232901 [GRCh38] Chr1:1168281 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001926787]\|not provided [RCV003234141]	Chr1:1233111 [GRCh38] Chr1:1168491 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.149C>G (p.Pro50Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002003881]	Chr1:1232427 [GRCh38] Chr1:1167807 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.347A>G (p.His116Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001964631]	Chr1:1232625 [GRCh38] Chr1:1168005 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002020299]\|not provided [RCV002511126]	Chr1:1232830 [GRCh38] Chr1:1168210 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001943955]	Chr1:1232766..1232767 [GRCh38] Chr1:1168146..1168147 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001995477]	Chr1:1232859 [GRCh38] Chr1:1168239 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=)	single nucleotide variant	B3GALT6-related condition [RCV003893013]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001939494]	Chr1:1232602 [GRCh38] Chr1:1167982 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001899495]	Chr1:1232742 [GRCh38] Chr1:1168122 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001941426]	Chr1:1232781 [GRCh38] Chr1:1168161 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001963547]	Chr1:1232441 [GRCh38] Chr1:1167821 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001901509]	Chr1:1232781 [GRCh38] Chr1:1168161 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_949364)_(1198766_?)del	deletion	Congenital myasthenic syndrome 8 [RCV001956550]	Chr1:949364..1198766 [GRCh37] Chr1:1p36.33	pathogenic
NC_000001.10:g.(?_955553)_(3350375_?)del	deletion	Left ventricular noncompaction 8 [RCV001955735]	Chr1:955553..3350375 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001954404]	Chr1:1232906 [GRCh38] Chr1:1168286 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs)	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001901985]	Chr1:1232547..1232548 [GRCh38] Chr1:1167927..1167928 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002030946]	Chr1:1233161 [GRCh38] Chr1:1168541 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup)	microsatellite	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001975813]	Chr1:1232806..1232807 [GRCh38] Chr1:1168186..1168187 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002009599]	Chr1:1233149 [GRCh38] Chr1:1168529 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001972014]	Chr1:1232472 [GRCh38] Chr1:1167852 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001936714]	Chr1:1233107 [GRCh38] Chr1:1168487 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del	deletion	Combined immunodeficiency due to OX40 deficiency [RCV001919158]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]\|Joubert syndrome 25 [RCV001923368]\|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]\|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]\|not provided [RCV001943250]	Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32	pathogenic\|uncertain significance\|no classifications from unflagged records
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001870056]	Chr1:1233093 [GRCh38] Chr1:1168473 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002027903]	Chr1:1233027 [GRCh38] Chr1:1168407 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001957528]	Chr1:1233081 [GRCh38] Chr1:1168461 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001976499]	Chr1:1233134 [GRCh38] Chr1:1168514 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001900001]	Chr1:1232506 [GRCh38] Chr1:1167886 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001902324]	Chr1:1232789 [GRCh38] Chr1:1168169 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001980597]	Chr1:1232693 [GRCh38] Chr1:1168073 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001922579]	Chr1:1233162 [GRCh38] Chr1:1168542 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001955038]	Chr1:1232438 [GRCh38] Chr1:1167818 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_861322)_(2161194_?)del	deletion	Idiopathic generalized epilepsy [RCV002050272]	Chr1:861322..2161194 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001977083]	Chr1:1232667 [GRCh38] Chr1:1168047 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001881785]	Chr1:1232924 [GRCh38] Chr1:1168304 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002168867]	Chr1:1232488 [GRCh38] Chr1:1167868 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.576C>T (p.Val192=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002192768]	Chr1:1232854 [GRCh38] Chr1:1168234 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002167366]	Chr1:1232623 [GRCh38] Chr1:1168003 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002208227]	Chr1:1232530 [GRCh38] Chr1:1167910 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002128702]	Chr1:1232981 [GRCh38] Chr1:1168361 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002110974]	Chr1:1232737 [GRCh38] Chr1:1168117 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.762C>A (p.Val254=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002125758]	Chr1:1233040 [GRCh38] Chr1:1168420 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002150506]	Chr1:1232425 [GRCh38] Chr1:1167805 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002076592]	Chr1:1232863 [GRCh38] Chr1:1168243 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002115309]	Chr1:1232671 [GRCh38] Chr1:1168051 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002171230]	Chr1:1233229 [GRCh38] Chr1:1168609 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002187741]	Chr1:1232368 [GRCh38] Chr1:1167748 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.576C>G (p.Val192=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002096593]	Chr1:1232854 [GRCh38] Chr1:1168234 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002196337]	Chr1:1232929 [GRCh38] Chr1:1168309 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002132931]	Chr1:1232665 [GRCh38] Chr1:1168045 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002121912]	Chr1:1232449 [GRCh38] Chr1:1167829 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002140338]	Chr1:1232767 [GRCh38] Chr1:1168147 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002121140]	Chr1:1232533 [GRCh38] Chr1:1167913 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.783C>T (p.Arg261=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002163678]	Chr1:1233061 [GRCh38] Chr1:1168441 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002156831]	Chr1:1233106 [GRCh38] Chr1:1168486 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=)	single nucleotide variant	B3GALT6-related condition [RCV003971003]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002101470]	Chr1:1233137 [GRCh38] Chr1:1168517 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002217415]	Chr1:1232569 [GRCh38] Chr1:1167949 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002143254]	Chr1:1233235 [GRCh38] Chr1:1168615 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002157426]	Chr1:1232692 [GRCh38] Chr1:1168072 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003110409]	Chr1:1232824 [GRCh38] Chr1:1168204 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003112749]	Chr1:1232980 [GRCh38] Chr1:1168360 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1146935)_(1168648_?)dup	duplication	Combined immunodeficiency due to OX40 deficiency [RCV003113254]	Chr1:1146935..1168648 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_980719)_(1168648_?)dup	duplication	Congenital myasthenic syndrome 8 [RCV003113991]	Chr1:980719..1168648 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1167659)_(1168648_?)dup	duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003123016]	Chr1:1167659..1168648 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003122028]	Chr1:1232621 [GRCh38] Chr1:1168001 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003096161]\|not provided [RCV002273468]	Chr1:1233009 [GRCh38] Chr1:1168389 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	copy number gain	not provided [RCV002474934]	Chr1:1130311..2397177 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1	copy number loss	not provided [RCV002474760]	Chr1:1129319..1264880 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	copy number loss	not provided [RCV002472529]	Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003775024]\|not provided [RCV002308946]	Chr1:1232327 [GRCh38] Chr1:1167707 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003015492]	Chr1:1232477 [GRCh38] Chr1:1167857 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.575T>G (p.Val192Gly)	single nucleotide variant	Inborn genetic diseases [RCV002728027]	Chr1:1232853 [GRCh38] Chr1:1168233 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002616691]	Chr1:1232965 [GRCh38] Chr1:1168345 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002815881]	Chr1:1233041 [GRCh38] Chr1:1168421 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003011702]	Chr1:1232477 [GRCh38] Chr1:1167857 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003016978]	Chr1:1232563 [GRCh38] Chr1:1167943 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002909088]	Chr1:1232808 [GRCh38] Chr1:1168188 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002615352]	Chr1:1232899 [GRCh38] Chr1:1168279 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003034851]	Chr1:1232476 [GRCh38] Chr1:1167856 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003013706]	Chr1:1232961 [GRCh38] Chr1:1168341 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003074887]	Chr1:1232281 [GRCh38] Chr1:1167661 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.43G>A (p.Gly15Ser)	single nucleotide variant	not provided [RCV002461684]	Chr1:1232321 [GRCh38] Chr1:1167701 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002618147]	Chr1:1233125 [GRCh38] Chr1:1168505 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003015544]	Chr1:1232304 [GRCh38] Chr1:1167684 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003016252]	Chr1:1232609 [GRCh38] Chr1:1167989 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002800484]	Chr1:1232407 [GRCh38] Chr1:1167787 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.523C>G (p.Pro175Ala)	single nucleotide variant	Inborn genetic diseases [RCV002849221]	Chr1:1232801 [GRCh38] Chr1:1168181 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002662747]	Chr1:1232851 [GRCh38] Chr1:1168231 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002696205]	Chr1:1232348 [GRCh38] Chr1:1167728 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002975825]	Chr1:1232374 [GRCh38] Chr1:1167754 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002909749]	Chr1:1232811 [GRCh38] Chr1:1168191 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002795852]	Chr1:1232644 [GRCh38] Chr1:1168024 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002621368]	Chr1:1233196 [GRCh38] Chr1:1168576 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002658891]	Chr1:1232734 [GRCh38] Chr1:1168114 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002638802]	Chr1:1232406 [GRCh38] Chr1:1167786 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002639477]	Chr1:1232357 [GRCh38] Chr1:1167737 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003020598]	Chr1:1232951 [GRCh38] Chr1:1168331 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002795422]	Chr1:1233094 [GRCh38] Chr1:1168474 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.521A>C (p.Glu174Ala)	single nucleotide variant	Inborn genetic diseases [RCV002692572]	Chr1:1232799 [GRCh38] Chr1:1168179 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002952544]	Chr1:1232426 [GRCh38] Chr1:1167806 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)	single nucleotide variant	B3GALT6-related condition [RCV003409922]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002736185]	Chr1:1232814 [GRCh38] Chr1:1168194 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002574156]	Chr1:1232750 [GRCh38] Chr1:1168130 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.818A>T (p.Asn273Ile)	single nucleotide variant	Inborn genetic diseases [RCV002830728]	Chr1:1233096 [GRCh38] Chr1:1168476 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.202C>G (p.Arg68Gly)	single nucleotide variant	Inborn genetic diseases [RCV002893591]	Chr1:1232480 [GRCh38] Chr1:1167860 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002745598]	Chr1:1232782 [GRCh38] Chr1:1168162 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002701118]	Chr1:1232288 [GRCh38] Chr1:1167668 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.220A>T (p.Ser74Cys)	single nucleotide variant	Inborn genetic diseases [RCV002709621]	Chr1:1232498 [GRCh38] Chr1:1167878 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.151G>A (p.Ala51Thr)	single nucleotide variant	Inborn genetic diseases [RCV002827657]	Chr1:1232429 [GRCh38] Chr1:1167809 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002852200]	Chr1:1232813 [GRCh38] Chr1:1168193 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002594364]\|not provided [RCV003325607]	Chr1:1232586 [GRCh38] Chr1:1167966 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002573652]	Chr1:1232349 [GRCh38] Chr1:1167729 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002710985]	Chr1:1232590 [GRCh38] Chr1:1167970 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)	inversion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002700400]	Chr1:1232750..1232751 [GRCh38] Chr1:1168130..1168131 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.28C>T (p.Arg10Trp)	single nucleotide variant	Inborn genetic diseases [RCV002892938]	Chr1:1232306 [GRCh38] Chr1:1167686 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)	single nucleotide variant	B3GALT6-related condition [RCV003936547]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003084672]	Chr1:1232980 [GRCh38] Chr1:1168360 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002928478]\|Inborn genetic diseases [RCV003269334]	Chr1:1232648 [GRCh38] Chr1:1168028 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002700914]	Chr1:1232379 [GRCh38] Chr1:1167759 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.203G>C (p.Arg68Pro)	single nucleotide variant	Inborn genetic diseases [RCV002787137]	Chr1:1232481 [GRCh38] Chr1:1167861 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.694C>G (p.Arg232Gly)	single nucleotide variant	Inborn genetic diseases [RCV002712355]	Chr1:1232972 [GRCh38] Chr1:1168352 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002577838]	Chr1:1233077 [GRCh38] Chr1:1168457 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002900288]	Chr1:1232737 [GRCh38] Chr1:1168117 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002720524]	Chr1:1232810 [GRCh38] Chr1:1168190 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002676114]	Chr1:1232418 [GRCh38] Chr1:1167798 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002810686]	Chr1:1232698 [GRCh38] Chr1:1168078 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002578811]	Chr1:1232635 [GRCh38] Chr1:1168015 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.635A>G (p.Tyr212Cys)	single nucleotide variant	Inborn genetic diseases [RCV002668450]	Chr1:1232913 [GRCh38] Chr1:1168293 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.421del (p.Ala141fs)	deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002628253]	Chr1:1232698 [GRCh38] Chr1:1168078 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002628366]\|Inborn genetic diseases [RCV002628365]	Chr1:1232984 [GRCh38] Chr1:1168364 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003011500]	Chr1:1232960 [GRCh38] Chr1:1168340 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002806115]\|Inborn genetic diseases [RCV003274037]	Chr1:1232733 [GRCh38] Chr1:1168113 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002578875]	Chr1:1232491 [GRCh38] Chr1:1167871 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003009482]	Chr1:1232316 [GRCh38] Chr1:1167696 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002671867]	Chr1:1233181 [GRCh38] Chr1:1168561 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002811923]	Chr1:1233107 [GRCh38] Chr1:1168487 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002580373]	Chr1:1232948 [GRCh38] Chr1:1168328 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002604316]	Chr1:1232563 [GRCh38] Chr1:1167943 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002653839]	Chr1:1232721 [GRCh38] Chr1:1168101 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002814439]	Chr1:1232735 [GRCh38] Chr1:1168115 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003051204]	Chr1:1232539 [GRCh38] Chr1:1167919 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003092335]\|Inborn genetic diseases [RCV003161774]	Chr1:1232471 [GRCh38] Chr1:1167851 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.169G>A (p.Ala57Thr)	single nucleotide variant	Inborn genetic diseases [RCV003197171]	Chr1:1232447 [GRCh38] Chr1:1167827 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.404A>G (p.Lys135Arg)	single nucleotide variant	Inborn genetic diseases [RCV003196067]	Chr1:1232682 [GRCh38] Chr1:1168062 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.931G>C (p.Val311Leu)	single nucleotide variant	not provided [RCV003219128]	Chr1:1233209 [GRCh38] Chr1:1168589 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV003226604]	Chr1:1..2580976 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_080605.4(B3GALT6):c.905G>T (p.Arg302Leu)	single nucleotide variant	Inborn genetic diseases [RCV003218522]	Chr1:1233183 [GRCh38] Chr1:1168563 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.971G>A (p.Arg324Lys)	single nucleotide variant	Inborn genetic diseases [RCV003372078]	Chr1:1233249 [GRCh38] Chr1:1168629 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.7C>G (p.Leu3Val)	single nucleotide variant	Inborn genetic diseases [RCV003349196]	Chr1:1232285 [GRCh38] Chr1:1167665 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.598G>A (p.Glu200Lys)	single nucleotide variant	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV003333310]	Chr1:1232876 [GRCh38] Chr1:1168256 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	copy number loss	not provided [RCV003482983]	Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	copy number gain	not provided [RCV003484001]	Chr1:1129319..3615916 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	copy number gain	not provided [RCV003483999]	Chr1:1089596..2607016 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	copy number gain	not provided [RCV003484002]	Chr1:1138880..1647481 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	copy number gain	not provided [RCV003483998]	Chr1:849467..1207958 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003782270]	Chr1:1232687 [GRCh38] Chr1:1168067 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003782402]	Chr1:1232602 [GRCh38] Chr1:1167982 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784952]	Chr1:1232514 [GRCh38] Chr1:1167894 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003796618]	Chr1:1232434 [GRCh38] Chr1:1167814 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784026]	Chr1:1232530 [GRCh38] Chr1:1167910 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784582]	Chr1:1232773 [GRCh38] Chr1:1168153 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003780941]	Chr1:1232513 [GRCh38] Chr1:1167893 [GRCh37] Chr1:1p36.33	pathogenic
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003787638]	Chr1:1232797 [GRCh38] Chr1:1168177 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003804267]	Chr1:1233050 [GRCh38] Chr1:1168430 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003789708]	Chr1:1232968 [GRCh38] Chr1:1168348 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003796895]	Chr1:1233142 [GRCh38] Chr1:1168522 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003796482]	Chr1:1233155 [GRCh38] Chr1:1168535 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003781751]	Chr1:1232777 [GRCh38] Chr1:1168157 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003790403]	Chr1:1232539 [GRCh38] Chr1:1167919 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003785085]	Chr1:1233267 [GRCh38] Chr1:1168647 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784995]	Chr1:1232869 [GRCh38] Chr1:1168249 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003795433]	Chr1:1233196 [GRCh38] Chr1:1168576 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003793261]	Chr1:1232833 [GRCh38] Chr1:1168213 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)	single nucleotide variant	B3GALT6-related condition [RCV003893411]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003794033]	Chr1:1232875 [GRCh38] Chr1:1168255 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798908]	Chr1:1232614 [GRCh38] Chr1:1167994 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798088]	Chr1:1232740 [GRCh38] Chr1:1168120 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798715]	Chr1:1232836 [GRCh38] Chr1:1168216 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)	indel	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003800770]	Chr1:1232419..1232420 [GRCh38] Chr1:1167799..1167800 [GRCh37] Chr1:1p36.33	uncertain significance
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798937]	Chr1:1232419 [GRCh38] Chr1:1167799 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003803033]	Chr1:1232819 [GRCh38] Chr1:1168199 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	copy number gain	not specified [RCV003986984]	Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)	single nucleotide variant	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003802280]	Chr1:1232333 [GRCh38] Chr1:1167713 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.438C>T (p.His146=)	single nucleotide variant	B3GALT6-related condition [RCV003899545]	Chr1:1232716 [GRCh38] Chr1:1168096 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.*5C>G	single nucleotide variant	B3GALT6-related condition [RCV003894114]	Chr1:1233273 [GRCh38] Chr1:1168653 [GRCh37] Chr1:1p36.33	likely benign
NM_080605.4(B3GALT6):c.75G>A (p.Ala25=)	single nucleotide variant	B3GALT6-related condition [RCV003901676]	Chr1:1232353 [GRCh38] Chr1:1167733 [GRCh37] Chr1:1p36.33	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	722
Count of miRNA genes:	566
Interacting mature miRNAs:	611
Transcripts:	ENST00000379198
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

SHGC-74129

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,170,284 - 1,170,410	UniSTS	GRCh37
Build 36	1	1,160,147 - 1,160,273	RGD	NCBI36
Celera	1	1,413,244 - 1,413,370	RGD
Cytogenetic Map	1	p36.33	UniSTS
HuRef	1	441,861 - 441,987	UniSTS
TNG Radiation Hybrid Map	1	11.0	UniSTS
GeneMap99-GB4 RH Map	1	11.01	UniSTS
Whitehead-RH Map	1	6.8	UniSTS

SHGC-74127

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,152,288 - 1,152,454	UniSTS	GRCh37
Build 36	1	1,142,151 - 1,142,317	RGD	NCBI36
Celera	1	1,431,200 - 1,431,366	RGD
Cytogenetic Map	1	p36.33	UniSTS
HuRef	1	423,986 - 424,152	UniSTS
TNG Radiation Hybrid Map	1	0.0	UniSTS
GeneMap99-GB4 RH Map	1	15.89	UniSTS

UniSTS:484488

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,167,645 - 1,168,983	UniSTS	GRCh37
Celera	1	1,414,671 - 1,416,009	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1389

1174

1340

261

1019

197

3247

788

2594

302

1259

1360

1020

1840

Low

1050

1797

386

363

910

268

1110

1409

1140

117

201

253

184

948

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_030007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NG_033265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_080605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL162741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015549	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC041621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC051719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE249959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF002665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG290330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000379198 ⟹ ENSP00000368496

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,232,237 - 1,235,041 (+)	Ensembl

RefSeq Acc Id:

NM_080605 ⟹ NP_542172

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,232,237 - 1,235,041 (+)	NCBI
GRCh37	1	1,167,629 - 1,170,421 (+)	RGD
Build 36	1	1,157,492 - 1,160,284 (+)	NCBI Archive
Celera	1	1,413,233 - 1,416,025 (-)	RGD
HuRef	1	424,537 - 441,998 (+)	RGD
CHM1_1	1	1,154,101 - 1,157,447 (+)	NCBI
T2T-CHM13v2.0	1	660,694 - 663,498 (+)	NCBI

Sequence:

show sequence

ACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGT
GGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCT
GGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCC
GCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGC
GCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCG
CTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCG
CGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGG
TGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGA
CGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGC
CGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCG
AGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTC
GGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGAC
GTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACA
CCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGA
CATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTG
CGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCA
TCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCA
GGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTC
GCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGG
TGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGT
GCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTC
TCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTC
TGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTA
AGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGA
AAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGC
AGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTT
TCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTT
ATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACT
TCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCT
TGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTG
CCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACC
TGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGT
CTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGG
TTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGG
GGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTC
CAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGG
CCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGA
GGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGG
ACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGG
GATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGG
CTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCT
CTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATG
TCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAA
ATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_542172	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH51719	(Get FASTA)	NCBI Sequence Viewer
	EAW56269	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000368496
	ENSP00000368496.2
GenBank Protein	Q96L58	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_542172 ⟸ NM_080605

- UniProtKB:

Q5T7M5 (UniProtKB/Swiss-Prot), Q96L58 (UniProtKB/Swiss-Prot), Q499Z2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVA
SAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDA
YENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRV
KPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQR
EHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQ
CCQRREGIP

hide sequence

RefSeq Acc Id:

ENSP00000368496 ⟸ ENST00000379198

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96L58-F1-model_v2	AlphaFold	Q96L58	1-329	view protein structure

Promoters

RGD ID:

6784681

Promoter ID:

HG_KWN:135

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000360001, ENST00000379198, NM_016176, NM_016547, OTTHUMT00000005068, UC009VJV.1, UC009VJW.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	1,156,426 - 1,160,702 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17978	AgrOrtholog
COSMIC	B3GALT6	COSMIC
Ensembl Genes	ENSG00000176022	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000379198	ENTREZGENE
	ENST00000379198.5	UniProtKB/Swiss-Prot
Gene3D-CATH	3.90.550.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000176022	GTEx
HGNC ID	HGNC:17978	ENTREZGENE
Human Proteome Map	B3GALT6	Human Proteome Map
InterPro	Glyco_trans_31	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:126792	UniProtKB/Swiss-Prot
NCBI Gene	126792	ENTREZGENE
OMIM	615291	OMIM
PANTHER	BETA-1,3-GALACTOSYLTRANSFERASE 6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11214	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Galactosyl_T	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25214	PharmGKB
UniProt	B3GT6_HUMAN	UniProtKB/Swiss-Prot
	Q499Z2	ENTREZGENE, UniProtKB/TrEMBL
	Q5T7M5	ENTREZGENE
	Q96L58	ENTREZGENE
UniProt Secondary	Q5T7M5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Name	Description	Reference	Status
2016-05-03	B3GALT6	beta-1,3-galactosyltransferase 6	Beta-1,3-galactosyltransferase 6	Symbol and/or name change	5135510	APPROVED
2016-01-05	B3GALT6	Beta-1,3-galactosyltransferase 6	UDP-Gal:betaGal beta 1,3-galactosyltransferase 6	Symbol and/or name change	5135510	APPROVED
2015-12-08	B3GALT6	UDP-Gal:betaGal beta 1,3-galactosyltransferase 6	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar