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nsv6314273

  • Variant Calls:9
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:
    46;XY;inv(10)(q11.2q24)dn AND multiple conditions
  • Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 51 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):102,029,489-102,029,489Question Mark
Overlapping variant regions from other studies: 51 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):102,029,489-102,029,489Question Mark
Overlapping variant regions from other studies: 47 SVs from 11 studies. See in: genome view    
Remapped(Score: Perfect):102,229,416-102,229,416Question Mark
Overlapping variant regions from other studies: 47 SVs from 11 studies. See in: genome view    
Remapped(Score: Perfect):102,229,416-102,229,416Question Mark
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):43,346,040-43,346,040Question Mark
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):43,346,040-43,346,040Question Mark
Overlapping variant regions from other studies: 49 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):43,474,628-43,474,628Question Mark
Overlapping variant regions from other studies: 49 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):43,474,628-43,474,628Question Mark
Overlapping variant regions from other studies: 1540 SVs from 79 studies. See in: genome view    
Remapped(Score: Perfect):46,597,651-46,597,651Question Mark
Overlapping variant regions from other studies: 1538 SVs from 79 studies. See in: genome view    
Remapped(Score: Perfect):46,598,916-46,598,916Question Mark
Overlapping variant regions from other studies: 69 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):68,691,517-68,691,517Question Mark
Overlapping variant regions from other studies: 69 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):68,691,517-68,691,517Question Mark
Overlapping variant regions from other studies: 68 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):73,227,875-73,227,875Question Mark
Overlapping variant regions from other studies: 68 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):73,227,875-73,227,875Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):96,707,530-96,707,530Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):96,707,530-96,707,530Question Mark
Overlapping variant regions from other studies: 63 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):96,885,146-96,885,146Question Mark
Overlapping variant regions from other studies: 63 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):96,885,146-96,885,146Question Mark
Overlapping variant regions from other studies: 51 SVs from 15 studies. See in: genome view    
Submitted genomic103,789,246-103,789,246Question Mark
Overlapping variant regions from other studies: 51 SVs from 15 studies. See in: genome view    
Submitted genomic103,789,246-103,789,246Question Mark
Overlapping variant regions from other studies: 47 SVs from 11 studies. See in: genome view    
Submitted genomic103,989,173-103,989,173Question Mark
Overlapping variant regions from other studies: 47 SVs from 11 studies. See in: genome view    
Submitted genomic103,989,173-103,989,173Question Mark
Overlapping variant regions from other studies: 47 SVs from 18 studies. See in: genome view    
Submitted genomic43,841,488-43,841,488Question Mark
Overlapping variant regions from other studies: 47 SVs from 18 studies. See in: genome view    
Submitted genomic43,841,488-43,841,488Question Mark
Overlapping variant regions from other studies: 49 SVs from 15 studies. See in: genome view    
Submitted genomic43,970,076-43,970,076Question Mark
Overlapping variant regions from other studies: 49 SVs from 15 studies. See in: genome view    
Submitted genomic43,970,076-43,970,076Question Mark
Overlapping variant regions from other studies: 580 SVs from 61 studies. See in: genome view    
Submitted genomic46,950,701-46,950,701Question Mark
Overlapping variant regions from other studies: 581 SVs from 61 studies. See in: genome view    
Submitted genomic46,951,966-46,951,966Question Mark
Overlapping variant regions from other studies: 69 SVs from 18 studies. See in: genome view    
Submitted genomic70,451,274-70,451,274Question Mark
Overlapping variant regions from other studies: 69 SVs from 18 studies. See in: genome view    
Submitted genomic70,451,274-70,451,274Question Mark
Overlapping variant regions from other studies: 68 SVs from 18 studies. See in: genome view    
Submitted genomic74,987,633-74,987,633Question Mark
Overlapping variant regions from other studies: 68 SVs from 18 studies. See in: genome view    
Submitted genomic74,987,633-74,987,633Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Submitted genomic98,467,287-98,467,287Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Submitted genomic98,467,287-98,467,287Question Mark
Overlapping variant regions from other studies: 63 SVs from 18 studies. See in: genome view    
Submitted genomic98,644,903-98,644,903Question Mark
Overlapping variant regions from other studies: 63 SVs from 18 studies. See in: genome view    
Submitted genomic98,644,903-98,644,903Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr10102,029,489102,029,489+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr10102,029,489102,029,489-
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr10102,229,416102,229,416-
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr10102,229,416102,229,416+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1043,346,04043,346,040+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1043,346,04043,346,040+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1043,474,62843,474,628+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1043,474,62843,474,628+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1046,597,65146,597,651-
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1046,598,91646,598,916+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1068,691,51768,691,517+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1068,691,51768,691,517-
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1073,227,87573,227,875+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1073,227,87573,227,875+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1096,707,53096,707,530+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1096,707,53096,707,530-
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1096,885,14696,885,146+
nsv6314273RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1096,885,14696,885,146-
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr10103,789,246103,789,246-
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr10103,789,246103,789,246+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr10103,989,173103,989,173-
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr10103,989,173103,989,173+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1043,841,48843,841,488+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1043,841,48843,841,488+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1043,970,07643,970,076+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1043,970,07643,970,076+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1046,950,70146,950,701+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1046,951,96646,951,966-
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1070,451,27470,451,274-
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1070,451,27470,451,274+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1074,987,63374,987,633+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1074,987,63374,987,633+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1098,467,28798,467,287-
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1098,467,28798,467,287+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1098,644,90398,644,903+
nsv6314273Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1098,644,90398,644,903-

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975233intrachromosomal translocationMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975235copy number gainMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975230intrachromosomal translocationMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975232intrachromosomal translocationMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975234intrachromosomal translocationMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975231intrachromosomal translocationMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975236copy number lossMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975237copy number gainMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975238copy number gainMultipleMultipleAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975233RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1043,346,04043,346,040+
nssv17975235RemappedPerfectNC_000010.11:g.433
46040dupNC_000010.
11:g.43474628dup		GRCh38.p12First PassNC_000010.11Chr1043,346,04043,346,040
nssv17975230RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1043,474,62843,474,628+
nssv17975235RemappedPerfectNC_000010.11:g.433
46040dupNC_000010.
11:g.43474628dup		GRCh38.p12First PassNC_000010.11Chr1043,474,62843,474,628
nssv17975232RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1046,597,65146,597,651-
nssv17975234RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1046,598,91646,598,916+
nssv17975231RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1068,691,51768,691,517-
nssv17975236RemappedPerfectNC_000010.11:g.686
91517delNC_000010.
11:g.73227875del		GRCh38.p12First PassNC_000010.11Chr1068,691,51768,691,517
nssv17975234RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1073,227,87573,227,875+
nssv17975236RemappedPerfectNC_000010.11:g.686
91517delNC_000010.
11:g.73227875del		GRCh38.p12First PassNC_000010.11Chr1073,227,87573,227,875
nssv17975233RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1096,707,53096,707,530-
nssv17975237RemappedPerfectNC_000010.11:g.968
85146dupNC_000010.
11:g.96707530dup		GRCh38.p12First PassNC_000010.11Chr1096,707,53096,707,530
nssv17975232RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1096,885,14696,885,146-
nssv17975237RemappedPerfectNC_000010.11:g.968
85146dupNC_000010.
11:g.96707530dup		GRCh38.p12First PassNC_000010.11Chr1096,885,14696,885,146
nssv17975231RemappedPerfectGRCh38.p12First PassNC_000010.11Chr10102,029,489102,029,489-
nssv17975238RemappedPerfectNC_000010.11:g.102
029489dupNC_000010
.11:g.102229416dup		GRCh38.p12First PassNC_000010.11Chr10102,029,489102,029,489
nssv17975230RemappedPerfectGRCh38.p12First PassNC_000010.11Chr10102,229,416102,229,416-
nssv17975238RemappedPerfectNC_000010.11:g.102
029489dupNC_000010
.11:g.102229416dup		GRCh38.p12First PassNC_000010.11Chr10102,229,416102,229,416
nssv17975233Submitted genomicGRCh37 (hg19)NC_000010.10Chr1043,841,48843,841,488+
nssv17975235Submitted genomicNC_000010.10:g.439
70076dupNC_000010.
10:g.43841488dup		GRCh37 (hg19)NC_000010.10Chr1043,841,48843,841,488
nssv17975230Submitted genomicGRCh37 (hg19)NC_000010.10Chr1043,970,07643,970,076+
nssv17975235Submitted genomicNC_000010.10:g.439
70076dupNC_000010.
10:g.43841488dup		GRCh37 (hg19)NC_000010.10Chr1043,970,07643,970,076
nssv17975234Submitted genomicGRCh37 (hg19)NC_000010.10Chr1046,950,70146,950,701+
nssv17975232Submitted genomicGRCh37 (hg19)NC_000010.10Chr1046,951,96646,951,966-
nssv17975231Submitted genomicGRCh37 (hg19)NC_000010.10Chr1070,451,27470,451,274-
nssv17975236Submitted genomicNC_000010.10:g.704
51274delNC_000010.
10:g.74987633del		GRCh37 (hg19)NC_000010.10Chr1070,451,27470,451,274
nssv17975234Submitted genomicGRCh37 (hg19)NC_000010.10Chr1074,987,63374,987,633+
nssv17975236Submitted genomicNC_000010.10:g.704
51274delNC_000010.
10:g.74987633del		GRCh37 (hg19)NC_000010.10Chr1074,987,63374,987,633
nssv17975233Submitted genomicGRCh37 (hg19)NC_000010.10Chr1098,467,28798,467,287-
nssv17975237Submitted genomicNC_000010.10:g.986
44903dupNC_000010.
10:g.98467287dup		GRCh37 (hg19)NC_000010.10Chr1098,467,28798,467,287
nssv17975232Submitted genomicGRCh37 (hg19)NC_000010.10Chr1098,644,90398,644,903-
nssv17975237Submitted genomicNC_000010.10:g.986
44903dupNC_000010.
10:g.98467287dup		GRCh37 (hg19)NC_000010.10Chr1098,644,90398,644,903
nssv17975231Submitted genomicGRCh37 (hg19)NC_000010.10Chr10103,789,246103,789,246-
nssv17975238Submitted genomicNC_000010.10:g.103
789246dupNC_000010
.10:g.103989173dup		GRCh37 (hg19)NC_000010.10Chr10103,789,246103,789,246
nssv17975230Submitted genomicGRCh37 (hg19)NC_000010.10Chr10103,989,173103,989,173-
nssv17975238Submitted genomicNC_000010.10:g.103
789246dupNC_000010
.10:g.103989173dup		GRCh37 (hg19)NC_000010.10Chr10103,989,173103,989,173

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975233intrachromosomal translocationde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975235GRCh37: NC_000010.10:g.43970076dupNC_000010.10:g.43841488dupcopy number gainde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975230intrachromosomal translocationde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975232intrachromosomal translocationde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975234intrachromosomal translocationde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975231intrachromosomal translocationde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975236GRCh37: NC_000010.10:g.70451274delNC_000010.10:g.74987633delcopy number lossde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975237GRCh37: NC_000010.10:g.98644903dupNC_000010.10:g.98467287dupcopy number gainde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1
nssv17975238GRCh37: NC_000010.10:g.103789246dupNC_000010.10:g.103989173dupcopy number gainde novoAbsent vas deferens; Absent vas deferens; Appendicular hypotonia; Appendicular hypotonia; Axial hypotonia; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Hallux valgus; Hallux valgus; Heart murmur; Heart murmur; Motor delay; Motor delay; Muscular hypotonia of the trunk; Sacral dimple; Sacral dimple; Server error < EMBL-EBI; Ulnar deviation of the hand; Ulnar deviation of the handPathogenicClinVarRCV000258533.2, VCV000267853.1

No genotype data were submitted for this variant

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