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nsv6314541

  • Variant Calls:9
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:
    46;XX;ins(5;6)(p13;p24p25)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: 102 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):173,070,559-173,070,559Question Mark
Overlapping variant regions from other studies: 103 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):173,070,823-173,070,823Question Mark
Overlapping variant regions from other studies: 141 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):178,577,686-178,577,686Question Mark
Overlapping variant regions from other studies: 139 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):178,578,753-178,578,753Question Mark
Overlapping variant regions from other studies: 86 SVs from 30 studies. See in: genome view    
Remapped(Score: Perfect):34,389,381-34,389,381Question Mark
Overlapping variant regions from other studies: 86 SVs from 30 studies. See in: genome view    
Remapped(Score: Perfect):34,389,386-34,389,386Question Mark
Overlapping variant regions from other studies: 68 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):62,885,458-62,885,458Question Mark
Overlapping variant regions from other studies: 68 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):62,885,470-62,885,470Question Mark
Overlapping variant regions from other studies: 123 SVs from 28 studies. See in: genome view    
Remapped(Score: Perfect):6,819,211-6,819,211Question Mark
Overlapping variant regions from other studies: 123 SVs from 28 studies. See in: genome view    
Remapped(Score: Perfect):6,819,217-6,819,217Question Mark
Overlapping variant regions from other studies: 82 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):15,947,409-15,947,409Question Mark
Overlapping variant regions from other studies: 86 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):15,947,418-15,947,418Question Mark
Overlapping variant regions from other studies: 89 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):16,375,711-16,375,711Question Mark
Overlapping variant regions from other studies: 89 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):16,375,711-16,375,711Question Mark
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):20,727,182-20,727,182Question Mark
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):20,727,190-20,727,190Question Mark
Overlapping variant regions from other studies: 115 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):20,761,020-20,761,020Question Mark
Overlapping variant regions from other studies: 115 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):20,761,058-20,761,058Question Mark
Overlapping variant regions from other studies: 102 SVs from 24 studies. See in: genome view    
Submitted genomic173,991,710-173,991,710Question Mark
Overlapping variant regions from other studies: 103 SVs from 24 studies. See in: genome view    
Submitted genomic173,991,974-173,991,974Question Mark
Overlapping variant regions from other studies: 141 SVs from 31 studies. See in: genome view    
Submitted genomic179,498,840-179,498,840Question Mark
Overlapping variant regions from other studies: 139 SVs from 29 studies. See in: genome view    
Submitted genomic179,499,907-179,499,907Question Mark
Overlapping variant regions from other studies: 86 SVs from 30 studies. See in: genome view    
Submitted genomic34,389,486-34,389,486Question Mark
Overlapping variant regions from other studies: 86 SVs from 30 studies. See in: genome view    
Submitted genomic34,389,491-34,389,491Question Mark
Overlapping variant regions from other studies: 68 SVs from 17 studies. See in: genome view    
Submitted genomic62,181,285-62,181,285Question Mark
Overlapping variant regions from other studies: 68 SVs from 17 studies. See in: genome view    
Submitted genomic62,181,297-62,181,297Question Mark
Overlapping variant regions from other studies: 123 SVs from 28 studies. See in: genome view    
Submitted genomic6,819,324-6,819,324Question Mark
Overlapping variant regions from other studies: 123 SVs from 28 studies. See in: genome view    
Submitted genomic6,819,330-6,819,330Question Mark
Overlapping variant regions from other studies: 82 SVs from 15 studies. See in: genome view    
Submitted genomic15,947,640-15,947,640Question Mark
Overlapping variant regions from other studies: 86 SVs from 17 studies. See in: genome view    
Submitted genomic15,947,649-15,947,649Question Mark
Overlapping variant regions from other studies: 89 SVs from 16 studies. See in: genome view    
Submitted genomic16,375,942-16,375,942Question Mark
Overlapping variant regions from other studies: 89 SVs from 16 studies. See in: genome view    
Submitted genomic16,375,942-16,375,942Question Mark
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view    
Submitted genomic20,727,413-20,727,413Question Mark
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view    
Submitted genomic20,727,421-20,727,421Question Mark
Overlapping variant regions from other studies: 115 SVs from 24 studies. See in: genome view    
Submitted genomic20,761,251-20,761,251Question Mark
Overlapping variant regions from other studies: 115 SVs from 24 studies. See in: genome view    
Submitted genomic20,761,289-20,761,289Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4173,070,559173,070,559+
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4173,070,823173,070,823+
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4178,577,686178,577,686-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4178,578,753178,578,753+
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr534,389,38134,389,381-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr534,389,38634,389,386+
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr562,885,45862,885,458+
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr562,885,47062,885,470+
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr56,819,2116,819,211-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr56,819,2176,819,217-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr615,947,40915,947,409+
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr615,947,41815,947,418-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr616,375,71116,375,711-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr616,375,71116,375,711-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,727,18220,727,182-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,727,19020,727,190-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,761,02020,761,020-
nsv6314541RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,761,05820,761,058+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4173,991,710173,991,710+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4173,991,974173,991,974+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4179,498,840179,498,840-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4179,499,907179,499,907+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr534,389,48634,389,486-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr534,389,49134,389,491+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr562,181,28562,181,285+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr562,181,29762,181,297+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr56,819,3246,819,324-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr56,819,3306,819,330-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr615,947,64015,947,640+
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr615,947,64915,947,649-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr616,375,94216,375,942-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr616,375,94216,375,942-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,727,41320,727,413-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,727,42120,727,421-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,761,25120,761,251-
nsv6314541Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,761,28920,761,289+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975441copy number lossMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975431interchromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975440interchromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975434interchromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975433interchromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975435interchromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975436interchromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975439interchromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975432intrachromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975441RemappedPerfectNC_000004.12:g.178
578753delNC_000004
.12:g.173070559del		GRCh38.p12First PassNC_000004.12Chr4173,070,559173,070,559
nssv17975431RemappedPerfectGRCh38.p12First PassNC_000004.12Chr4173,070,823173,070,823+
nssv17975440RemappedPerfectGRCh38.p12First PassNC_000004.12Chr4178,577,686178,577,686-
nssv17975441RemappedPerfectNC_000004.12:g.178
578753delNC_000004
.12:g.173070559del		GRCh38.p12First PassNC_000004.12Chr4178,578,753178,578,753
nssv17975434RemappedPerfectGRCh38.p12First PassNC_000005.10Chr56,819,2116,819,211-
nssv17975431RemappedPerfectGRCh38.p12First PassNC_000005.10Chr56,819,2176,819,217-
nssv17975433RemappedPerfectGRCh38.p12First PassNC_000005.10Chr534,389,38134,389,381-
nssv17975435RemappedPerfectGRCh38.p12First PassNC_000005.10Chr534,389,38634,389,386+
nssv17975436RemappedPerfectGRCh38.p12First PassNC_000005.10Chr562,885,45862,885,458+
nssv17975439RemappedPerfectGRCh38.p12First PassNC_000005.10Chr562,885,47062,885,470+
nssv17975432RemappedPerfectGRCh38.p12First PassNC_000006.12Chr615,947,40915,947,409+
nssv17975433RemappedPerfectGRCh38.p12First PassNC_000006.12Chr615,947,41815,947,418-
nssv17975432RemappedPerfectGRCh38.p12First PassNC_000006.12Chr616,375,71116,375,711-
nssv17975435RemappedPerfectGRCh38.p12First PassNC_000006.12Chr616,375,71116,375,711-
nssv17975434RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,727,18220,727,182-
nssv17975439RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,727,19020,727,190-
nssv17975436RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,761,02020,761,020-
nssv17975440RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,761,05820,761,058+
nssv17975441Submitted genomicNC_000004.11:g.173
991710delNC_000004
.11:g.179499907del		GRCh37 (hg19)NC_000004.11Chr4173,991,710173,991,710
nssv17975431Submitted genomicGRCh37 (hg19)NC_000004.11Chr4173,991,974173,991,974+
nssv17975440Submitted genomicGRCh37 (hg19)NC_000004.11Chr4179,498,840179,498,840-
nssv17975441Submitted genomicNC_000004.11:g.173
991710delNC_000004
.11:g.179499907del		GRCh37 (hg19)NC_000004.11Chr4179,499,907179,499,907
nssv17975434Submitted genomicGRCh37 (hg19)NC_000005.9Chr56,819,3246,819,324-
nssv17975431Submitted genomicGRCh37 (hg19)NC_000005.9Chr56,819,3306,819,330-
nssv17975433Submitted genomicGRCh37 (hg19)NC_000005.9Chr534,389,48634,389,486-
nssv17975435Submitted genomicGRCh37 (hg19)NC_000005.9Chr534,389,49134,389,491+
nssv17975436Submitted genomicGRCh37 (hg19)NC_000005.9Chr562,181,28562,181,285+
nssv17975439Submitted genomicGRCh37 (hg19)NC_000005.9Chr562,181,29762,181,297+
nssv17975432Submitted genomicGRCh37 (hg19)NC_000006.11Chr615,947,64015,947,640+
nssv17975433Submitted genomicGRCh37 (hg19)NC_000006.11Chr615,947,64915,947,649-
nssv17975432Submitted genomicGRCh37 (hg19)NC_000006.11Chr616,375,94216,375,942-
nssv17975435Submitted genomicGRCh37 (hg19)NC_000006.11Chr616,375,94216,375,942-
nssv17975434Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,727,41320,727,413-
nssv17975439Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,727,42120,727,421-
nssv17975436Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,761,25120,761,251-
nssv17975440Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,761,28920,761,289+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975441GRCh37: NC_000004.11:g.173991710delNC_000004.11:g.179499907delcopy number lossde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975431interchromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975440interchromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975434interchromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975433interchromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975435interchromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975436interchromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975439interchromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2
nssv17975432intrachromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Blue nevus; Blue nevus; Calcaneovalgus deformity; Calcaneovalgus deformity; Cleft palate; Cleft palate; Congenital pulmonary valvar stenosis; Isolated Pierre Robin syndrome; Left-to-right shunt; Left-to-right shunt; Ovarian cyst; Ovarian cyst; Overlapping toe; Overlapping toe; PATENT DUCTUS ARTERIOSUS 1; PDA1; PIERRE ROBIN SYNDROME; PRBNS; PULMONIC STENOSIS; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Pierre-Robin sequence; Pulmonic stenosis; Pulmonic stenosis; Robin sequence; Short metatarsal; Short metatarsal; Short palpebral fissure; Short palpebral fissure; Tapered finger; Tapered finger; Tricuspid regurgitation; Tricuspid regurgitationPathogenicClinVarRCV000258598.2, VCV000267851.2

No genotype data were submitted for this variant

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