NM_001142966.3(GREB1L):c.3977del (p.Lys1326fs) |
deletion |
Renal hypodysplasia/aplasia 3 [RCV001526471] |
Chr18:21500545 [GRCh38] Chr18:19080506 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.5608+1del |
deletion |
Renal hypodysplasia/aplasia 3 [RCV000551574] |
Chr18:21520823 [GRCh38] Chr18:19100784 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000547388] |
Chr18:21508556 [GRCh38] Chr18:19088517 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.983G>A (p.Arg328Gln) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000542205] |
Chr18:21440302 [GRCh38] Chr18:19020263 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.1582del (p.Gln528fs) |
deletion |
Renal hypodysplasia/aplasia 3 [RCV000548919] |
Chr18:21449696 [GRCh38] Chr18:19029657 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.4369-1G>C |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000524866] |
Chr18:21508117 [GRCh38] Chr18:19088078 [GRCh37] Chr18:18q11.2 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000051048] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 |
copy number gain |
See cases [RCV000052543] |
Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3 |
copy number gain |
See cases [RCV000052545] |
Chr18:20960320..28601877 [GRCh38] Chr18:18540281..26181841 [GRCh37] Chr18:16794279..24435839 [NCBI36] Chr18:18q11.1-12.1 |
pathogenic |
GRCh38/hg38 18q11.1-11.2(chr18:20964726-25043457)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|See cases [RCV000052547] |
Chr18:20964726..25043457 [GRCh38] Chr18:18544687..22623421 [GRCh37] Chr18:16798685..20877419 [NCBI36] Chr18:18q11.1-11.2 |
pathogenic |
GRCh38/hg38 18q11.1-11.2(chr18:20964726-24937674)x3 |
copy number gain |
See cases [RCV000052548] |
Chr18:20964726..24937674 [GRCh38] Chr18:18544687..22517638 [GRCh37] Chr18:16798685..20771636 [NCBI36] Chr18:18q11.1-11.2 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 |
copy number gain |
See cases [RCV000052501] |
Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 |
copy number gain |
See cases [RCV000052549] |
Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 |
copy number gain |
See cases [RCV000052507] |
Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 |
copy number gain |
See cases [RCV000052514] |
Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
NM_001142966.1(GREB1L):c.2183-4257C>T |
single nucleotide variant |
Malignant melanoma [RCV000071764] |
Chr18:21468774 [GRCh38] Chr18:19048735 [GRCh37] Chr18:17302733 [NCBI36] Chr18:18q11.1 |
not provided |
NM_001142966.1(GREB1L):c.1394-775C>T |
single nucleotide variant |
Lung cancer [RCV000100704] |
Chr18:21448735 [GRCh38] Chr18:19028696 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 |
copy number gain |
See cases [RCV000134110] |
Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1(chr18:21085601-21414565)x1 |
copy number loss |
See cases [RCV000137665] |
Chr18:21085601..21414565 [GRCh38] Chr18:18665562..18994526 [GRCh37] Chr18:16919560..17248524 [NCBI36] Chr18:18q11.1 |
uncertain significance |
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 |
copy number gain |
See cases [RCV000138656] |
Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 |
copy number gain |
See cases [RCV000139397] |
Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 |
copy number gain |
See cases [RCV000141646] |
Chr18:20949378..34363455 [GRCh38] Chr18:18529339..31943419 [GRCh37] Chr18:16783337..30197417 [NCBI36] Chr18:18q11.1-12.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 |
copy number gain |
See cases [RCV000142244] |
Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 |
copy number gain |
See cases [RCV000142226] |
Chr18:20941324..40360620 [GRCh38] Chr18:18521285..37940584 [GRCh37] Chr18:16775283..36194582 [NCBI36] Chr18:18q11.1-12.3 |
pathogenic |
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 |
copy number gain |
See cases [RCV000143057] |
Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3 |
pathogenic |
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 |
copy number gain |
See cases [RCV000143075] |
Chr18:8779843..24685379 [GRCh38] Chr18:8779841..22265343 [GRCh37] Chr18:8769841..20519341 [NCBI36] Chr18:18p11.22-q11.2 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 |
copy number gain |
See cases [RCV000143218] |
Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000148072] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879) |
copy number gain |
See cases [RCV000143455] |
Chr18:13340112..23409879 [GRCh38] Chr18:13340111..20989843 [GRCh37] Chr18:13330111..19243841 [NCBI36] Chr18:18p11.21-q11.2 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 |
copy number gain |
See cases [RCV000240130] |
Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001142966.3(GREB1L):c.4607A>G (p.His1536Arg) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000553765] |
Chr18:21508463 [GRCh38] Chr18:19088424 [GRCh37] Chr18:18q11.2 |
pathogenic |
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 |
copy number gain |
See cases [RCV000240476] |
Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23 |
pathogenic |
NM_001142966.3(GREB1L):c.3176T>C (p.Ile1059Thr) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV001270827] |
Chr18:21496483 [GRCh38] Chr18:19076444 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4000dup (p.Leu1334fs) |
duplication |
Renal hypodysplasia/aplasia 3 [RCV000526997] |
Chr18:21500568..21500569 [GRCh38] Chr18:19080529..19080530 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.2251C>T (p.Arg751Cys) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000529777]|not provided [RCV004777700] |
Chr18:21473099 [GRCh38] Chr18:19053060 [GRCh37] Chr18:18q11.1 |
pathogenic|uncertain significance |
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 |
copy number gain |
See cases [RCV000447320] |
Chr18:12254327..23262749 [GRCh37] Chr18:18p11.21-q11.2 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 |
copy number gain |
See cases [RCV000446047] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 |
copy number gain |
See cases [RCV000445851] |
Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 |
copy number gain |
See cases [RCV000512118] |
Chr18:136226..21657790 [GRCh37] Chr18:18p11.32-q11.2 |
pathogenic |
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 |
copy number gain |
See cases [RCV000511734] |
Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1 |
pathogenic |
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 |
copy number gain |
See cases [RCV000512030] |
Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 |
copy number gain |
See cases [RCV000511857] |
Chr18:136227..46171053 [GRCh37] Chr18:18p11.32-q21.1 |
pathogenic |
GRCh37/hg19 18q11.1-11.2(chr18:18540833-19156332)x3 |
copy number gain |
See cases [RCV000510809] |
Chr18:18540833..19156332 [GRCh37] Chr18:18q11.1-11.2 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) |
copy number gain |
See cases [RCV000511189] |
Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001849400]|Renal hypodysplasia/aplasia 3 [RCV000527963] |
Chr18:21515583 [GRCh38] Chr18:19095544 [GRCh37] Chr18:18q11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_001142966.3(GREB1L):c.5378T>G (p.Leu1793Arg) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000534553]|not provided [RCV003558443] |
Chr18:21518140 [GRCh38] Chr18:19098101 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.3295C>T (p.Gln1099Ter) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000540979] |
Chr18:21496602 [GRCh38] Chr18:19076563 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.1780G>T (p.Glu594Ter) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000541288] |
Chr18:21451082 [GRCh38] Chr18:19031043 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.4680C>A (p.Tyr1560Ter) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000534917] |
Chr18:21508536 [GRCh38] Chr18:19088497 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV001374396]|Inner ear malformation [RCV000677230] |
Chr18:21440301 [GRCh38] Chr18:19020262 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV001374395]|Inner ear malformation [RCV000677231] |
Chr18:21505949 [GRCh38] Chr18:19085910 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.2441T>C (p.Leu814Pro) |
single nucleotide variant |
Renal agenesis [RCV001807661] |
Chr18:21477241 [GRCh38] Chr18:19057202 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV001808066]|Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153249] |
Chr18:21508432 [GRCh38] Chr18:19088393 [GRCh37] Chr18:18q11.2 |
pathogenic|likely pathogenic |
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) |
single nucleotide variant |
Short stature [RCV000736150]|not provided [RCV001772022] |
Chr18:21440307 [GRCh38] Chr18:19020268 [GRCh37] Chr18:18q11.1 |
likely pathogenic|uncertain significance |
NM_001142966.3(GREB1L):c.1548C>T (p.Ser516=) |
single nucleotide variant |
not provided [RCV001531277] |
Chr18:21449664 [GRCh38] Chr18:19029625 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.111T>G (p.Phe37Leu) |
single nucleotide variant |
Short stature [RCV000736151] |
Chr18:21383629 [GRCh38] Chr18:18963590 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 |
copy number gain |
not provided [RCV000739776] |
Chr18:18539806..49926444 [GRCh37] Chr18:18q11.1-21.2 |
pathogenic |
NM_001142966.3(GREB1L):c.1852_1863del (p.Asp618_Asp621del) |
deletion |
not provided [RCV000962625] |
Chr18:21452084..21452095 [GRCh38] Chr18:19032045..19032056 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.3194C>T (p.Thr1065Ile) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV000853334] |
Chr18:21496501 [GRCh38] Chr18:19076462 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 |
copy number gain |
not provided [RCV000752245] |
Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 |
copy number gain |
not provided [RCV000752246] |
Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001142966.3(GREB1L):c.1849+10T>C |
single nucleotide variant |
not provided [RCV000948459] |
Chr18:21451161 [GRCh38] Chr18:19031122 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.3528C>G (p.Ala1176=) |
single nucleotide variant |
not provided [RCV000961543] |
Chr18:21499865 [GRCh38] Chr18:19079826 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.2891C>T (p.Ser964Leu) |
single nucleotide variant |
not provided [RCV000965401] |
Chr18:21490212 [GRCh38] Chr18:19070173 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.2377T>C (p.Ser793Pro) |
single nucleotide variant |
not provided [RCV000917453] |
Chr18:21477177 [GRCh38] Chr18:19057138 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.5133T>C (p.Tyr1711=) |
single nucleotide variant |
not provided [RCV000942416] |
Chr18:21516616 [GRCh38] Chr18:19096577 [GRCh37] Chr18:18q11.2 |
likely benign |
GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3 |
copy number gain |
not provided [RCV000847262] |
Chr18:19047402..19737070 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.37C>T (p.Arg13Ter) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845159] |
Chr18:21383555 [GRCh38] Chr18:18963516 [GRCh37] Chr18:18q11.1 |
association |
NM_001142966.3(GREB1L):c.383G>A (p.Arg128His) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845160] |
Chr18:21395412 [GRCh38] Chr18:18975373 [GRCh37] Chr18:18q11.1 |
association |
NM_001142966.3(GREB1L):c.2281G>C (p.Glu761Gln) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845161] |
Chr18:21473129 [GRCh38] Chr18:19053090 [GRCh37] Chr18:18q11.1 |
association |
NM_001142966.3(GREB1L):c.3197G>C (p.Arg1066Pro) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845162] |
Chr18:21496504 [GRCh38] Chr18:19076465 [GRCh37] Chr18:18q11.1 |
association |
NM_001142966.3(GREB1L):c.4991A>C (p.Tyr1664Ser) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845163] |
Chr18:21515506 [GRCh38] Chr18:19095467 [GRCh37] Chr18:18q11.2 |
association |
NM_001142966.3(GREB1L):c.818G>T (p.Gly273Val) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845164] |
Chr18:21403980 [GRCh38] Chr18:18983941 [GRCh37] Chr18:18q11.1 |
association |
NM_001142966.3(GREB1L):c.1490C>G (p.Ala497Gly) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845165] |
Chr18:21449606 [GRCh38] Chr18:19029567 [GRCh37] Chr18:18q11.1 |
association |
NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845166] |
Chr18:21508502 [GRCh38] Chr18:19088463 [GRCh37] Chr18:18q11.2 |
association |
NM_001142966.3(GREB1L):c.4843G>A (p.Val1615Ile) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845167] |
Chr18:21513928 [GRCh38] Chr18:19093889 [GRCh37] Chr18:18q11.2 |
association |
NM_001142966.3(GREB1L):c.4964T>C (p.Ile1655Thr) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845168] |
Chr18:21515479 [GRCh38] Chr18:19095440 [GRCh37] Chr18:18q11.2 |
association |
NM_001142966.3(GREB1L):c.5651G>A (p.Arg1884His) |
single nucleotide variant |
Renal agenesis and hypodysplasia [RCV000845169]|not provided [RCV002536161] |
Chr18:21522700 [GRCh38] Chr18:19102661 [GRCh37] Chr18:18q11.2 |
association|uncertain significance |
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss [RCV001194620]|Hearing loss, autosomal dominant 80 [RCV001374398] |
Chr18:21384395 [GRCh38] Chr18:18964356 [GRCh37] Chr18:18q11.1 |
pathogenic|uncertain significance |
GRCh37/hg19 18q11.1(chr18:18604788-18920850)x3 |
copy number gain |
not provided [RCV000849000] |
Chr18:18604788..18920850 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1720+5G>A |
single nucleotide variant |
Renal agenesis [RCV001807662] |
Chr18:21449841 [GRCh38] Chr18:19029802 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.889C>G (p.Pro297Ala) |
single nucleotide variant |
not specified [RCV004783438] |
Chr18:21439577 [GRCh38] Chr18:19019538 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.770C>T (p.Ser257Leu) |
single nucleotide variant |
not specified [RCV004783309] |
Chr18:21403932 [GRCh38] Chr18:18983893 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5541T>C (p.Ser1847=) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV001702336]|Renal hypodysplasia/aplasia 3 [RCV001702045]|not provided [RCV002077168] |
Chr18:21520756 [GRCh38] Chr18:19100717 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.3555A>G (p.Glu1185=) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV001702953]|Renal hypodysplasia/aplasia 3 [RCV001702952]|not provided [RCV001666291] |
Chr18:21499892 [GRCh38] Chr18:19079853 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.3511G>A (p.Ala1171Thr) |
single nucleotide variant |
not provided [RCV003233384] |
Chr18:21499848 [GRCh38] Chr18:19079809 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1426G>A (p.Glu476Lys) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV002471249] |
Chr18:21449542 [GRCh38] Chr18:19029503 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh37/hg19 18q11.1-11.2(chr18:18775750-19112469)x3 |
copy number gain |
not provided [RCV001006956] |
Chr18:18775750..19112469 [GRCh37] Chr18:18q11.1-11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV001174892] |
Chr18:21522671 [GRCh38] Chr18:19102632 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
GRCh37/hg19 18q11.1-11.2(chr18:18532908-19094148)x3 |
copy number gain |
not provided [RCV001006955] |
Chr18:18532908..19094148 [GRCh37] Chr18:18q11.1-11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV001374397]|Profound hearing impairment [RCV001030796] |
Chr18:21439536 [GRCh38] Chr18:19019497 [GRCh37] Chr18:18q11.1 |
pathogenic|likely pathogenic |
NM_001142966.3(GREB1L):c.2227del (p.Gln743fs) |
deletion |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257332] |
Chr18:21473075 [GRCh38] Chr18:19053036 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys) |
single nucleotide variant |
GREB1L-related disorder [RCV003908429]|Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257340]|not provided [RCV002555442] |
Chr18:21384325 [GRCh38] Chr18:18964286 [GRCh37] Chr18:18q11.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV001808265] |
Chr18:21485657 [GRCh38] Chr18:19065618 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.2312C>T (p.Pro771Leu) |
single nucleotide variant |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257335] |
Chr18:21473160 [GRCh38] Chr18:19053121 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1936T>C (p.Cys646Arg) |
single nucleotide variant |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257338] |
Chr18:21452169 [GRCh38] Chr18:19032130 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5198A>G (p.Asn1733Ser) |
single nucleotide variant |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257333] |
Chr18:21516681 [GRCh38] Chr18:19096642 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1852G>A (p.Asp618Asn) |
single nucleotide variant |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257336] |
Chr18:21452085 [GRCh38] Chr18:19032046 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3983G>A (p.Gly1328Asp) |
single nucleotide variant |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257337] |
Chr18:21500553 [GRCh38] Chr18:19080514 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3492G>T (p.Gly1164=) |
single nucleotide variant |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257339] |
Chr18:21499829 [GRCh38] Chr18:19079790 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) |
copy number gain |
Trisomy 18 [RCV002280660] |
Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV001281297] |
Chr18:21515589 [GRCh38] Chr18:19095550 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.2787_2788del (p.Asp930fs) |
microsatellite |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257331] |
Chr18:21490106..21490107 [GRCh38] Chr18:19070067..19070068 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.3970-20A>G |
single nucleotide variant |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257334]|Renal hypodysplasia/aplasia 3 [RCV001290410] |
Chr18:21500520 [GRCh38] Chr18:19080481 [GRCh37] Chr18:18q11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_001142966.3(GREB1L):c.157+1del |
deletion |
Renal hypodysplasia/aplasia 3 [RCV001261996] |
Chr18:21383675 [GRCh38] Chr18:18963636 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.3170G>C (p.Arg1057Pro) |
single nucleotide variant |
Renal agenesis [RCV001807663] |
Chr18:21496477 [GRCh38] Chr18:19076438 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3364A>T (p.Asn1122Tyr) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV001335709] |
Chr18:21496671 [GRCh38] Chr18:19076632 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2401C>T (p.His801Tyr) |
single nucleotide variant |
not provided [RCV001356251] |
Chr18:21477201 [GRCh38] Chr18:19057162 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.705G>T (p.Trp235Cys) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV001374712] |
Chr18:21401322 [GRCh38] Chr18:18981283 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.1702T>C (p.Phe568Leu) |
single nucleotide variant |
not provided [RCV001356782] |
Chr18:21449818 [GRCh38] Chr18:19029779 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.409A>C (p.Ile137Leu) |
single nucleotide variant |
not provided [RCV001357540] |
Chr18:21395438 [GRCh38] Chr18:18975399 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4530G>C (p.Lys1510Asn) |
single nucleotide variant |
not provided [RCV001269965] |
Chr18:21508279 [GRCh38] Chr18:19088240 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys) |
single nucleotide variant |
Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153247]|Renal hypodysplasia/aplasia 3 [RCV001335710] |
Chr18:21522699 [GRCh38] Chr18:19102660 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1735C>T (p.Arg579Ter) |
single nucleotide variant |
not provided [RCV001311898] |
Chr18:21451037 [GRCh38] Chr18:19030998 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.4312A>G (p.Thr1438Ala) |
single nucleotide variant |
not provided [RCV001357536] |
Chr18:21505893 [GRCh38] Chr18:19085854 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3983del (p.Gly1328fs) |
deletion |
Renal hypodysplasia/aplasia 3 [RCV001526472] |
Chr18:21500551 [GRCh38] Chr18:19080512 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His) |
single nucleotide variant |
GREB1L-related disorder [RCV004749709]|Renal cortical hyperechogenicity [RCV001526584]|Renal hypodysplasia/aplasia 3 [RCV003154040]|not provided [RCV004720925] |
Chr18:21473100 [GRCh38] Chr18:19053061 [GRCh37] Chr18:18q11.1 |
likely pathogenic|uncertain significance |
NM_001142966.3(GREB1L):c.4992T>A (p.Tyr1664Ter) |
single nucleotide variant |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV002247756] |
Chr18:21515507 [GRCh38] Chr18:19095468 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.1654C>T (p.Pro552Ser) |
single nucleotide variant |
not provided [RCV003107097] |
Chr18:21449770 [GRCh38] Chr18:19029731 [GRCh37] Chr18:18q11.1 |
uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001787257] |
Chr18:1262336..53254747 [GRCh37] Chr18:18p11.32-q21.2 |
pathogenic |
NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser) |
single nucleotide variant |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153248]|Renal hypodysplasia/aplasia 3 [RCV001795811] |
Chr18:21401170 [GRCh38] Chr18:18981131 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3197G>A (p.Arg1066His) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV001809005] |
Chr18:21496504 [GRCh38] Chr18:19076465 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4824G>C (p.Gln1608His) |
single nucleotide variant |
not provided [RCV004798524] |
Chr18:21513909 [GRCh38] Chr18:19093870 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1124C>G (p.Pro375Arg) |
single nucleotide variant |
not provided [RCV002045761] |
Chr18:21441454 [GRCh38] Chr18:19021415 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3 |
copy number gain |
not provided [RCV001827640] |
Chr18:18611942..26843691 [GRCh37] Chr18:18q11.1-12.1 |
uncertain significance |
GRCh37/hg19 18q11.1(chr18:18532909-18975889)x3 |
copy number gain |
not provided [RCV001832964] |
Chr18:18532909..18975889 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 |
copy number gain |
not provided [RCV001832915] |
Chr18:136226..25252276 [GRCh37] Chr18:18p11.32-q12.1 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) |
copy number gain |
not specified [RCV002052616] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.21-q11.1(chr18:14715282-18988457) |
copy number gain |
not specified [RCV002052627] |
Chr18:14715282..18988457 [GRCh37] Chr18:18p11.21-q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001849619] |
Chr18:21505857 [GRCh38] Chr18:19085818 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.3926G>A (p.Arg1309Gln) |
single nucleotide variant |
not provided [RCV002012785] |
Chr18:21500263 [GRCh38] Chr18:19080224 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5707G>A (p.Glu1903Lys) |
single nucleotide variant |
not provided [RCV001932880] |
Chr18:21522756 [GRCh38] Chr18:19102717 [GRCh37] Chr18:18q11.2 |
benign|uncertain significance |
NM_001142966.3(GREB1L):c.5472+1_5472+2dup |
duplication |
not provided [RCV001897140] |
Chr18:21518234..21518235 [GRCh38] Chr18:19098195..19098196 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2364-1G>A |
single nucleotide variant |
not provided [RCV002211427] |
Chr18:21477163 [GRCh38] Chr18:19057124 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.1721-12T>C |
single nucleotide variant |
not provided [RCV002116036] |
Chr18:21451011 [GRCh38] Chr18:19030972 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.3805C>T (p.Arg1269Trp) |
single nucleotide variant |
not provided [RCV002224788] |
Chr18:21500142 [GRCh38] Chr18:19080103 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3668G>T (p.Gly1223Val) |
single nucleotide variant |
not provided [RCV002193944] |
Chr18:21500005 [GRCh38] Chr18:19079966 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.532+12A>G |
single nucleotide variant |
not provided [RCV002133677] |
Chr18:21395573 [GRCh38] Chr18:18975534 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.2183-8_2183-6del |
microsatellite |
not provided [RCV002213574] |
Chr18:21473018..21473020 [GRCh38] Chr18:19052979..19052981 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2920C>A (p.Arg974=) |
single nucleotide variant |
not provided [RCV002099580] |
Chr18:21490241 [GRCh38] Chr18:19070202 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3875G>A (p.Arg1292Gln) |
single nucleotide variant |
GREB1L-related disorder [RCV003950999]|not provided [RCV002081287] |
Chr18:21500212 [GRCh38] Chr18:19080173 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.5584_5586dup (p.Leu1862dup) |
duplication |
not provided [RCV002175473] |
Chr18:21520797..21520798 [GRCh38] Chr18:19100758..19100759 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.1438C>T (p.Leu480=) |
single nucleotide variant |
not provided [RCV002122636] |
Chr18:21449554 [GRCh38] Chr18:19029515 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.4736-9G>A |
single nucleotide variant |
not provided [RCV002099197] |
Chr18:21513812 [GRCh38] Chr18:19093773 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.1330G>A (p.Gly444Ser) |
single nucleotide variant |
GREB1L-related disorder [RCV003933327]|not provided [RCV002216526] |
Chr18:21444346 [GRCh38] Chr18:19024307 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.3582G>A (p.Ala1194=) |
single nucleotide variant |
GREB1L-related disorder [RCV003893159]|not provided [RCV002202244] |
Chr18:21499919 [GRCh38] Chr18:19079880 [GRCh37] Chr18:18q11.1 |
likely benign |
NC_000018.9:g.(?_18963480)_(21534612_?)dup |
duplication |
Niemann-Pick disease, type C1 [RCV003109309] |
Chr18:18963480..21534612 [GRCh37] Chr18:18q11.1-11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5385C>T (p.His1795=) |
single nucleotide variant |
not provided [RCV003114830] |
Chr18:21518147 [GRCh38] Chr18:19098108 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.4268G>A (p.Arg1423Gln) |
single nucleotide variant |
not provided [RCV003121968] |
Chr18:21505849 [GRCh38] Chr18:19085810 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2621G>A (p.Trp874Ter) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV004795500] |
Chr18:21485684 [GRCh38] Chr18:19065645 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.1984+3A>C |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV003148500] |
Chr18:21452220 [GRCh38] Chr18:19032181 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu) |
single nucleotide variant |
GREB1L-related disorder [RCV003946443]|not provided [RCV003131071] |
Chr18:21384251 [GRCh38] Chr18:18964212 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1 |
copy number loss |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003154842] |
Chr18:18856932..19159898 [GRCh37] Chr18:18q11.1-11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.5246A>T (p.Asp1749Val) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV002294582] |
Chr18:21516729 [GRCh38] Chr18:19096690 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.4507C>T (p.Arg1503Trp) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV002284002] |
Chr18:21508256 [GRCh38] Chr18:19088217 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3200C>G (p.Thr1067Arg) |
single nucleotide variant |
not provided [RCV002291957] |
Chr18:21496507 [GRCh38] Chr18:19076468 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh37/hg19 18q11.1(chr18:18529578-18833060)x3 |
copy number gain |
not provided [RCV002472792] |
Chr18:18529578..18833060 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3704C>A (p.Ser1235Tyr) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV003236636] |
Chr18:21500041 [GRCh38] Chr18:19080002 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.3259G>A (p.Gly1087Arg) |
single nucleotide variant |
not provided [RCV002968075] |
Chr18:21496566 [GRCh38] Chr18:19076527 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3328G>A (p.Asp1110Asn) |
single nucleotide variant |
GREB1L-related disorder [RCV003936352]|not provided [RCV002903865] |
Chr18:21496635 [GRCh38] Chr18:19076596 [GRCh37] Chr18:18q11.1 |
benign|likely benign |
NM_001142966.3(GREB1L):c.1062A>G (p.Ser354=) |
single nucleotide variant |
GREB1L-related disorder [RCV003916707]|not provided [RCV002994612] |
Chr18:21440381 [GRCh38] Chr18:19020342 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.4071C>T (p.Thr1357=) |
single nucleotide variant |
not provided [RCV003097506] |
Chr18:21500641 [GRCh38] Chr18:19080602 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.833-5T>C |
single nucleotide variant |
not provided [RCV002968057] |
Chr18:21439516 [GRCh38] Chr18:19019477 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2690+8G>A |
single nucleotide variant |
not provided [RCV002902951] |
Chr18:21485761 [GRCh38] Chr18:19065722 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.2556+19G>C |
single nucleotide variant |
not provided [RCV002776249] |
Chr18:21477375 [GRCh38] Chr18:19057336 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.1265T>C (p.Leu422Pro) |
single nucleotide variant |
not provided [RCV002775057] |
Chr18:21444281 [GRCh38] Chr18:19024242 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5501C>A (p.Pro1834His) |
single nucleotide variant |
not provided [RCV002837814] |
Chr18:21520716 [GRCh38] Chr18:19100677 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.645A>G (p.Leu215=) |
single nucleotide variant |
not provided [RCV002863389] |
Chr18:21401262 [GRCh38] Chr18:18981223 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3286G>A (p.Gly1096Arg) |
single nucleotide variant |
GREB1L-related disorder [RCV003926541]|not provided [RCV002910206] |
Chr18:21496593 [GRCh38] Chr18:19076554 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.533-17G>A |
single nucleotide variant |
not provided [RCV002658499] |
Chr18:21401133 [GRCh38] Chr18:18981094 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3031-12C>T |
single nucleotide variant |
not provided [RCV003036626] |
Chr18:21495658 [GRCh38] Chr18:19075619 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2774T>C (p.Met925Thr) |
single nucleotide variant |
not provided [RCV002639117] |
Chr18:21490095 [GRCh38] Chr18:19070056 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2652C>T (p.Asp884=) |
single nucleotide variant |
GREB1L-related disorder [RCV003926639]|not provided [RCV003002235] |
Chr18:21485715 [GRCh38] Chr18:19065676 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3574dup (p.Gln1192fs) |
duplication |
not provided [RCV003038981] |
Chr18:21499906..21499907 [GRCh38] Chr18:19079867..19079868 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.2799A>G (p.Thr933=) |
single nucleotide variant |
not provided [RCV002923687] |
Chr18:21490120 [GRCh38] Chr18:19070081 [GRCh37] Chr18:18q11.1 |
benign|likely benign |
NM_001142966.3(GREB1L):c.2067G>A (p.Ala689=) |
single nucleotide variant |
not provided [RCV002590423] |
Chr18:21454448 [GRCh38] Chr18:19034409 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.5706C>T (p.Asp1902=) |
single nucleotide variant |
not provided [RCV002923159] |
Chr18:21522755 [GRCh38] Chr18:19102716 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.2556+11T>C |
single nucleotide variant |
not provided [RCV002949098] |
Chr18:21477367 [GRCh38] Chr18:19057328 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3981G>A (p.Thr1327=) |
single nucleotide variant |
not provided [RCV002932199] |
Chr18:21500551 [GRCh38] Chr18:19080512 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.4731C>A (p.Gly1577=) |
single nucleotide variant |
not provided [RCV003084739] |
Chr18:21508587 [GRCh38] Chr18:19088548 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.5566T>C (p.Ser1856Pro) |
single nucleotide variant |
not provided [RCV002745462] |
Chr18:21520781 [GRCh38] Chr18:19100742 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs) |
duplication |
Renal hypodysplasia/aplasia 3 [RCV002790022] |
Chr18:21522662..21522663 [GRCh38] Chr18:19102623..19102624 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.159T>C (p.Asp53=) |
single nucleotide variant |
GREB1L-related disorder [RCV003943526]|not provided [RCV002890792] |
Chr18:21384207 [GRCh38] Chr18:18964168 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.4962C>T (p.His1654=) |
single nucleotide variant |
not provided [RCV002574184] |
Chr18:21515477 [GRCh38] Chr18:19095438 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.3920G>A (p.Gly1307Asp) |
single nucleotide variant |
not provided [RCV002931943] |
Chr18:21500257 [GRCh38] Chr18:19080218 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1628G>A (p.Ser543Asn) |
single nucleotide variant |
not provided [RCV002985741] |
Chr18:21449744 [GRCh38] Chr18:19029705 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3911C>T (p.Pro1304Leu) |
single nucleotide variant |
GREB1L-related disorder [RCV003961200]|not provided [RCV002932256] |
Chr18:21500248 [GRCh38] Chr18:19080209 [GRCh37] Chr18:18q11.2 |
benign|likely benign |
NM_001142966.3(GREB1L):c.203G>A (p.Arg68His) |
single nucleotide variant |
GREB1L-related disorder [RCV004750269]|not provided [RCV003082814] |
Chr18:21384251 [GRCh38] Chr18:18964212 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2715C>T (p.Val905=) |
single nucleotide variant |
not provided [RCV002932974] |
Chr18:21490036 [GRCh38] Chr18:19069997 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2019G>T (p.Pro673=) |
single nucleotide variant |
GREB1L-related disorder [RCV003903715]|not provided [RCV002576058] |
Chr18:21454400 [GRCh38] Chr18:19034361 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2777C>T (p.Ala926Val) |
single nucleotide variant |
not provided [RCV002917728] |
Chr18:21490098 [GRCh38] Chr18:19070059 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.2240A>G (p.Lys747Arg) |
single nucleotide variant |
GREB1L-related disorder [RCV003963419]|not provided [RCV002932198] |
Chr18:21473088 [GRCh38] Chr18:19053049 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.1322G>C (p.Gly441Ala) |
single nucleotide variant |
not provided [RCV002828105] |
Chr18:21444338 [GRCh38] Chr18:19024299 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.510T>A (p.Asp170Glu) |
single nucleotide variant |
not provided [RCV002918908] |
Chr18:21395539 [GRCh38] Chr18:18975500 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2167C>T (p.Arg723Trp) |
single nucleotide variant |
GREB1L-related disorder [RCV003961149]|Renal hypodysplasia/aplasia 3 [RCV003340544]|not provided [RCV002894568] |
Chr18:21454548 [GRCh38] Chr18:19034509 [GRCh37] Chr18:18q11.1 |
benign|likely benign|uncertain significance |
NM_001142966.3(GREB1L):c.1578G>A (p.Val526=) |
single nucleotide variant |
not provided [RCV003088705] |
Chr18:21449694 [GRCh38] Chr18:19029655 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.374A>G (p.Lys125Arg) |
single nucleotide variant |
not provided [RCV002582121] |
Chr18:21395403 [GRCh38] Chr18:18975364 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3047A>C (p.Glu1016Ala) |
single nucleotide variant |
not provided [RCV002602456] |
Chr18:21495686 [GRCh38] Chr18:19075647 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4977A>G (p.Pro1659=) |
single nucleotide variant |
not provided [RCV003009226] |
Chr18:21515492 [GRCh38] Chr18:19095453 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.166C>A (p.Pro56Thr) |
single nucleotide variant |
GREB1L-related disorder [RCV003418561]|not provided [RCV002597937] |
Chr18:21384214 [GRCh38] Chr18:18964175 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4115_4118dup (p.Trp1373fs) |
duplication |
not provided [RCV003009347] |
Chr18:21505453..21505454 [GRCh38] Chr18:19085414..19085415 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.1570G>A (p.Val524Met) |
single nucleotide variant |
not provided [RCV003044636] |
Chr18:21449686 [GRCh38] Chr18:19029647 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3021G>A (p.Ala1007=) |
single nucleotide variant |
not provided [RCV003063591] |
Chr18:21490342 [GRCh38] Chr18:19070303 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.5766T>C (p.His1922=) |
single nucleotide variant |
GREB1L-related disorder [RCV003961170]|not provided [RCV002895942] |
Chr18:21522815 [GRCh38] Chr18:19102776 [GRCh37] Chr18:18q11.2 |
benign|likely benign |
NM_001142966.3(GREB1L):c.5608+13del |
deletion |
not provided [RCV002630597] |
Chr18:21520834 [GRCh38] Chr18:19100795 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.3702A>G (p.Leu1234=) |
single nucleotide variant |
not provided [RCV003090003] |
Chr18:21500039 [GRCh38] Chr18:19080000 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.3481A>G (p.Thr1161Ala) |
single nucleotide variant |
not provided [RCV003008918] |
Chr18:21499818 [GRCh38] Chr18:19079779 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.92T>G (p.Val31Gly) |
single nucleotide variant |
not provided [RCV002599111] |
Chr18:21383610 [GRCh38] Chr18:18963571 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1394-6A>G |
single nucleotide variant |
GREB1L-related disorder [RCV003961235]|not provided [RCV002938341] |
Chr18:21449504 [GRCh38] Chr18:19029465 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.3030+9T>C |
single nucleotide variant |
not provided [RCV003067500] |
Chr18:21490360 [GRCh38] Chr18:19070321 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1388G>A (p.Arg463Gln) |
single nucleotide variant |
GREB1L-related disorder [RCV003926592]|not provided [RCV002943556] |
Chr18:21444404 [GRCh38] Chr18:19024365 [GRCh37] Chr18:18q11.1 |
benign|likely benign |
NM_001142966.3(GREB1L):c.4902-9A>G |
single nucleotide variant |
not provided [RCV003069147] |
Chr18:21515408 [GRCh38] Chr18:19095369 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.3171G>A (p.Arg1057=) |
single nucleotide variant |
not provided [RCV002725674] |
Chr18:21496478 [GRCh38] Chr18:19076439 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2601G>A (p.Glu867=) |
single nucleotide variant |
not provided [RCV002680860] |
Chr18:21485664 [GRCh38] Chr18:19065625 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1990G>A (p.Asp664Asn) |
single nucleotide variant |
not provided [RCV002585672] |
Chr18:21454371 [GRCh38] Chr18:19034332 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.97C>G (p.Pro33Ala) |
single nucleotide variant |
not provided [RCV002605705] |
Chr18:21383615 [GRCh38] Chr18:18963576 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.722G>A (p.Arg241Gln) |
single nucleotide variant |
not provided [RCV002606979] |
Chr18:21403884 [GRCh38] Chr18:18983845 [GRCh37] Chr18:18q11.1 |
likely benign|uncertain significance |
NM_001142966.3(GREB1L):c.14A>G (p.Tyr5Cys) |
single nucleotide variant |
not provided [RCV002586457] |
Chr18:21383532 [GRCh38] Chr18:18963493 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3721C>G (p.Leu1241Val) |
single nucleotide variant |
not provided [RCV002612843] |
Chr18:21500058 [GRCh38] Chr18:19080019 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3146+15A>G |
single nucleotide variant |
not provided [RCV002609477] |
Chr18:21495800 [GRCh38] Chr18:19075761 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2614_2615del (p.Leu872fs) |
microsatellite |
Renal hypodysplasia/aplasia 3 [RCV003154319] |
Chr18:21485674..21485675 [GRCh38] Chr18:19065635..19065636 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.833A>T (p.Asp278Val) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV003154627] |
Chr18:21439521 [GRCh38] Chr18:19019482 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2183-2A>G |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV004795457] |
Chr18:21473029 [GRCh38] Chr18:19052990 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1838C>G (p.Thr613Ser) |
single nucleotide variant |
not provided [RCV004790707] |
Chr18:21451140 [GRCh38] Chr18:19031101 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4881_4882del (p.His1627fs) |
microsatellite |
Renal hypodysplasia/aplasia 3 [RCV003219195] |
Chr18:21513964..21513965 [GRCh38] Chr18:19093925..19093926 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln) |
single nucleotide variant |
Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153275] |
Chr18:21401192 [GRCh38] Chr18:18981153 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2321T>A (p.Leu774Gln) |
single nucleotide variant |
Scoliosis, isolated, susceptibility to, 1 [RCV003153277] |
Chr18:21473169 [GRCh38] Chr18:19053130 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del) |
microsatellite |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153279] |
Chr18:21500624..21500626 [GRCh38] Chr18:19080585..19080587 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met) |
single nucleotide variant |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153280] |
Chr18:21496512 [GRCh38] Chr18:19076473 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs) |
deletion |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153281] |
Chr18:21518157..21518158 [GRCh38] Chr18:19098118..19098119 [GRCh37] Chr18:18q11.2 |
pathogenic |
NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn) |
single nucleotide variant |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153282] |
Chr18:21449674 [GRCh38] Chr18:19029635 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1729C>T (p.Gln577Ter) |
single nucleotide variant |
not provided [RCV003143384] |
Chr18:21451031 [GRCh38] Chr18:19030992 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.566G>A (p.Arg189Lys) |
single nucleotide variant |
not provided [RCV003135448] |
Chr18:21401183 [GRCh38] Chr18:18981144 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5060G>T (p.Arg1687Met) |
single nucleotide variant |
not provided [RCV003135449] |
Chr18:21515575 [GRCh38] Chr18:19095536 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2938G>A (p.Asp980Asn) |
single nucleotide variant |
not provided [RCV003135450] |
Chr18:21490259 [GRCh38] Chr18:19070220 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.226G>A (p.Asp76Asn) |
single nucleotide variant |
not provided [RCV003135451] |
Chr18:21384274 [GRCh38] Chr18:18964235 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg) |
single nucleotide variant |
Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153283] |
Chr18:21490043 [GRCh38] Chr18:19070004 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln) |
single nucleotide variant |
Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153284] |
Chr18:21495707 [GRCh38] Chr18:19075668 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3146+1G>A |
single nucleotide variant |
Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153271] |
Chr18:21495786 [GRCh38] Chr18:19075747 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.3167T>C (p.Leu1056Pro) |
single nucleotide variant |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153278] |
Chr18:21496474 [GRCh38] Chr18:19076435 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5441C>A (p.Ala1814Asp) |
single nucleotide variant |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153272] |
Chr18:21518203 [GRCh38] Chr18:19098164 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn) |
single nucleotide variant |
Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153273] |
Chr18:21495724 [GRCh38] Chr18:19075685 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln) |
single nucleotide variant |
Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV003153274] |
Chr18:21496660 [GRCh38] Chr18:19076621 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2947G>A (p.Gly983Ser) |
single nucleotide variant |
Scoliosis, isolated, susceptibility to, 1 [RCV003153276] |
Chr18:21490268 [GRCh38] Chr18:19070229 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3863G>A (p.Trp1288Ter) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV003323267] |
Chr18:21500200 [GRCh38] Chr18:19080161 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.5280G>C (p.Glu1760Asp) |
single nucleotide variant |
GREB1L-related disorder [RCV003936746]|not provided [RCV003334206] |
Chr18:21518042 [GRCh38] Chr18:19098003 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.1975C>T (p.Gln659Ter) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV003384291] |
Chr18:21452208 [GRCh38] Chr18:19032169 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.570dup (p.Phe191fs) |
duplication |
Renal hypodysplasia/aplasia 3 [RCV003331740] |
Chr18:21401186..21401187 [GRCh38] Chr18:18981147..18981148 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.4698G>T (p.Met1566Ile) |
single nucleotide variant |
not specified [RCV003332007] |
Chr18:21508554 [GRCh38] Chr18:19088515 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3781G>A (p.Asp1261Asn) |
single nucleotide variant |
GREB1L-related disorder [RCV003418849] |
Chr18:21500118 [GRCh38] Chr18:19080079 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5030C>A (p.Thr1677Asn) |
single nucleotide variant |
GREB1L-related disorder [RCV003419113] |
Chr18:21515545 [GRCh38] Chr18:19095506 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3323A>G (p.Asp1108Gly) |
single nucleotide variant |
GREB1L-related disorder [RCV003419240]|not provided [RCV003549095] |
Chr18:21496630 [GRCh38] Chr18:19076591 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2328G>C (p.Val776=) |
single nucleotide variant |
not provided [RCV003570988] |
Chr18:21473176 [GRCh38] Chr18:19053137 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.950-13dup |
duplication |
not provided [RCV003880602] |
Chr18:21440249..21440250 [GRCh38] Chr18:19020210..19020211 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.974C>T (p.Pro325Leu) |
single nucleotide variant |
GREB1L-related disorder [RCV003391317] |
Chr18:21440293 [GRCh38] Chr18:19020254 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.968G>A (p.Gly323Glu) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV003388879] |
Chr18:21440287 [GRCh38] Chr18:19020248 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1348G>A (p.Val450Met) |
single nucleotide variant |
GREB1L-related disorder [RCV003427756] |
Chr18:21444364 [GRCh38] Chr18:19024325 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4188G>T (p.Met1396Ile) |
single nucleotide variant |
GREB1L-related disorder [RCV003393101] |
Chr18:21505527 [GRCh38] Chr18:19085488 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.4871G>A (p.Trp1624Ter) |
single nucleotide variant |
GREB1L-related disorder [RCV003404548] |
Chr18:21513956 [GRCh38] Chr18:19093917 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.3814del (p.Leu1271_Leu1272insTer) |
deletion |
GREB1L-related disorder [RCV003408482] |
Chr18:21500150 [GRCh38] Chr18:19080111 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.875C>T (p.Ala292Val) |
single nucleotide variant |
GREB1L-related disorder [RCV003399865] |
Chr18:21439563 [GRCh38] Chr18:19019524 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5175T>C (p.Ser1725=) |
single nucleotide variant |
not provided [RCV003423045] |
Chr18:21516658 [GRCh38] Chr18:19096619 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.532+5G>A |
single nucleotide variant |
GREB1L-related disorder [RCV003397470] |
Chr18:21395566 [GRCh38] Chr18:18975527 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3914C>T (p.Ala1305Val) |
single nucleotide variant |
GREB1L-related disorder [RCV003414397] |
Chr18:21500251 [GRCh38] Chr18:19080212 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2065G>A (p.Ala689Thr) |
single nucleotide variant |
GREB1L-related disorder [RCV003392833] |
Chr18:21454446 [GRCh38] Chr18:19034407 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2232del (p.Ala745fs) |
deletion |
GREB1L-related disorder [RCV003405773] |
Chr18:21473080 [GRCh38] Chr18:19053041 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.3353G>C (p.Arg1118Pro) |
single nucleotide variant |
GREB1L-related disorder [RCV003392975] |
Chr18:21496660 [GRCh38] Chr18:19076621 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3665G>A (p.Arg1222Gln) |
single nucleotide variant |
GREB1L-related disorder [RCV003414482] |
Chr18:21500002 [GRCh38] Chr18:19079963 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3931T>C (p.Phe1311Leu) |
single nucleotide variant |
GREB1L-related disorder [RCV003405990] |
Chr18:21500268 [GRCh38] Chr18:19080229 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2161_2162del (p.Leu721fs) |
microsatellite |
GREB1L-related disorder [RCV003402401] |
Chr18:21454540..21454541 [GRCh38] Chr18:19034501..19034502 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.5017A>G (p.Ser1673Gly) |
single nucleotide variant |
GREB1L-related disorder [RCV003402289] |
Chr18:21515532 [GRCh38] Chr18:19095493 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2992G>A (p.Glu998Lys) |
single nucleotide variant |
GREB1L-related disorder [RCV003410733] |
Chr18:21490313 [GRCh38] Chr18:19070274 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.920C>T (p.Pro307Leu) |
single nucleotide variant |
GREB1L-related disorder [RCV003406123] |
Chr18:21439608 [GRCh38] Chr18:19019569 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1505T>C (p.Val502Ala) |
single nucleotide variant |
GREB1L-related disorder [RCV003410905] |
Chr18:21449621 [GRCh38] Chr18:19029582 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5362C>A (p.Leu1788Ile) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV003448779] |
Chr18:21518124 [GRCh38] Chr18:19098085 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1901G>C (p.Ser634Thr) |
single nucleotide variant |
GREB1L-related disorder [RCV003427913]|not provided [RCV003427912] |
Chr18:21452134 [GRCh38] Chr18:19032095 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2945T>C (p.Leu982Pro) |
single nucleotide variant |
GREB1L-related disorder [RCV003402895] |
Chr18:21490266 [GRCh38] Chr18:19070227 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3798C>G (p.Ser1266Arg) |
single nucleotide variant |
GREB1L-related disorder [RCV003420995] |
Chr18:21500135 [GRCh38] Chr18:19080096 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1071G>A (p.Glu357=) |
single nucleotide variant |
not provided [RCV003830033] |
Chr18:21441401 [GRCh38] Chr18:19021362 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.4587C>G (p.His1529Gln) |
single nucleotide variant |
not provided [RCV003695170] |
Chr18:21508443 [GRCh38] Chr18:19088404 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.4735+14dup |
duplication |
not provided [RCV003879774] |
Chr18:21508599..21508600 [GRCh38] Chr18:19088560..19088561 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.5662G>A (p.Val1888Ile) |
single nucleotide variant |
not provided [RCV003830741] |
Chr18:21522711 [GRCh38] Chr18:19102672 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2855G>A (p.Ser952Asn) |
single nucleotide variant |
not provided [RCV003712975] |
Chr18:21490176 [GRCh38] Chr18:19070137 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4369-13T>C |
single nucleotide variant |
not provided [RCV003877269] |
Chr18:21508105 [GRCh38] Chr18:19088066 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.4391C>A (p.Ala1464Asp) |
single nucleotide variant |
not provided [RCV003882684] |
Chr18:21508140 [GRCh38] Chr18:19088101 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.94G>A (p.Val32Ile) |
single nucleotide variant |
not provided [RCV003882601] |
Chr18:21383612 [GRCh38] Chr18:18963573 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.4864G>C (p.Val1622Leu) |
single nucleotide variant |
not provided [RCV003572768] |
Chr18:21513949 [GRCh38] Chr18:19093910 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1593G>A (p.Leu531=) |
single nucleotide variant |
not provided [RCV003716255] |
Chr18:21449709 [GRCh38] Chr18:19029670 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1013dup (p.Gln340fs) |
duplication |
not provided [RCV003547584] |
Chr18:21440331..21440332 [GRCh38] Chr18:19020292..19020293 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.3969+5G>A |
single nucleotide variant |
not provided [RCV003875809] |
Chr18:21500311 [GRCh38] Chr18:19080272 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5272-14G>A |
single nucleotide variant |
not provided [RCV003877429] |
Chr18:21518020 [GRCh38] Chr18:19097981 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.5633A>G (p.Gln1878Arg) |
single nucleotide variant |
not provided [RCV003850183] |
Chr18:21522682 [GRCh38] Chr18:19102643 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.4775A>T (p.Asn1592Ile) |
single nucleotide variant |
not provided [RCV004798514] |
Chr18:21513860 [GRCh38] Chr18:19093821 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1283A>G (p.Lys428Arg) |
single nucleotide variant |
not provided [RCV003659323] |
Chr18:21444299 [GRCh38] Chr18:19024260 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3298G>A (p.Glu1100Lys) |
single nucleotide variant |
not provided [RCV003659537] |
Chr18:21496605 [GRCh38] Chr18:19076566 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.158-16T>C |
single nucleotide variant |
not provided [RCV003832763] |
Chr18:21384190 [GRCh38] Chr18:18964151 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3033T>C (p.Ser1011=) |
single nucleotide variant |
not provided [RCV003851511] |
Chr18:21495672 [GRCh38] Chr18:19075633 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2746T>G (p.Ser916Ala) |
single nucleotide variant |
not provided [RCV003817040] |
Chr18:21490067 [GRCh38] Chr18:19070028 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4369-9C>G |
single nucleotide variant |
GREB1L-related disorder [RCV003909117]|not provided [RCV003725900] |
Chr18:21508109 [GRCh38] Chr18:19088070 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.3342C>T (p.Ile1114=) |
single nucleotide variant |
not provided [RCV003726513] |
Chr18:21496649 [GRCh38] Chr18:19076610 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.683C>T (p.Ser228Phe) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV003994669] |
Chr18:21401300 [GRCh38] Chr18:18981261 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.74C>T (p.Ser25Phe) |
single nucleotide variant |
not provided [RCV003833031] |
Chr18:21383592 [GRCh38] Chr18:18963553 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3020C>T (p.Ala1007Val) |
single nucleotide variant |
not provided [RCV003726224] |
Chr18:21490341 [GRCh38] Chr18:19070302 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3336G>C (p.Leu1112=) |
single nucleotide variant |
not provided [RCV003835174] |
Chr18:21496643 [GRCh38] Chr18:19076604 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1683G>A (p.Ser561=) |
single nucleotide variant |
not provided [RCV003726414] |
Chr18:21449799 [GRCh38] Chr18:19029760 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3088G>A (p.Gly1030Ser) |
single nucleotide variant |
not provided [RCV003837496] |
Chr18:21495727 [GRCh38] Chr18:19075688 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3969+18G>A |
single nucleotide variant |
not provided [RCV003816875] |
Chr18:21500324 [GRCh38] Chr18:19080285 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.5473-11G>A |
single nucleotide variant |
not provided [RCV003812245] |
Chr18:21520677 [GRCh38] Chr18:19100638 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.20G>A (p.Gly7Glu) |
single nucleotide variant |
not provided [RCV003673880] |
Chr18:21383538 [GRCh38] Chr18:18963499 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1810G>A (p.Val604Ile) |
single nucleotide variant |
not provided [RCV003668252] |
Chr18:21451112 [GRCh38] Chr18:19031073 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2391C>T (p.Ser797=) |
single nucleotide variant |
GREB1L-related disorder [RCV003939100]|not provided [RCV003561491] |
Chr18:21477191 [GRCh38] Chr18:19057152 [GRCh37] Chr18:18q11.1 |
benign|likely benign |
NM_001142966.3(GREB1L):c.157G>A (p.Asp53Asn) |
single nucleotide variant |
not provided [RCV003558325] |
Chr18:21383675 [GRCh38] Chr18:18963636 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5397del (p.Lys1799fs) |
deletion |
not provided [RCV003697693] |
Chr18:21518157 [GRCh38] Chr18:19098118 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg) |
single nucleotide variant |
not provided [RCV003669049] |
Chr18:21439589 [GRCh38] Chr18:19019550 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2367C>T (p.Val789=) |
single nucleotide variant |
not provided [RCV003548522] |
Chr18:21477167 [GRCh38] Chr18:19057128 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.4887T>G (p.Val1629=) |
single nucleotide variant |
not provided [RCV003696967] |
Chr18:21513972 [GRCh38] Chr18:19093933 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.4030C>A (p.Leu1344Ile) |
single nucleotide variant |
not provided [RCV003700591] |
Chr18:21500600 [GRCh38] Chr18:19080561 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.4943T>G (p.Leu1648Trp) |
single nucleotide variant |
not provided [RCV003701671] |
Chr18:21515458 [GRCh38] Chr18:19095419 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3384G>A (p.Gly1128=) |
single nucleotide variant |
not provided [RCV003672398] |
Chr18:21496691 [GRCh38] Chr18:19076652 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3578T>C (p.Met1193Thr) |
single nucleotide variant |
GREB1L-related disorder [RCV003954258]|not provided [RCV003551268] |
Chr18:21499915 [GRCh38] Chr18:19079876 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.4840A>G (p.Ile1614Val) |
single nucleotide variant |
not provided [RCV003819750] |
Chr18:21513925 [GRCh38] Chr18:19093886 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5472+18G>T |
single nucleotide variant |
not provided [RCV003842360] |
Chr18:21518252 [GRCh38] Chr18:19098213 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.2556+16G>T |
single nucleotide variant |
not provided [RCV003819170] |
Chr18:21477372 [GRCh38] Chr18:19057333 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2691-11T>G |
single nucleotide variant |
not provided [RCV003857963] |
Chr18:21490001 [GRCh38] Chr18:19069962 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3954G>A (p.Leu1318=) |
single nucleotide variant |
not provided [RCV003728904] |
Chr18:21500291 [GRCh38] Chr18:19080252 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.4228+15C>T |
single nucleotide variant |
not provided [RCV003841294] |
Chr18:21505582 [GRCh38] Chr18:19085543 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.3777C>T (p.His1259=) |
single nucleotide variant |
not provided [RCV003844131] |
Chr18:21500114 [GRCh38] Chr18:19080075 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.2519C>G (p.Ser840Cys) |
single nucleotide variant |
not provided [RCV003551441] |
Chr18:21477319 [GRCh38] Chr18:19057280 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1370C>T (p.Thr457Met) |
single nucleotide variant |
not provided [RCV003733218] |
Chr18:21444386 [GRCh38] Chr18:19024347 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3868T>C (p.Leu1290=) |
single nucleotide variant |
not provided [RCV003726994] |
Chr18:21500205 [GRCh38] Chr18:19080166 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.1103C>G (p.Pro368Arg) |
single nucleotide variant |
not provided [RCV003706350] |
Chr18:21441433 [GRCh38] Chr18:19021394 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4494C>T (p.His1498=) |
single nucleotide variant |
not provided [RCV003737217] |
Chr18:21508243 [GRCh38] Chr18:19088204 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.5130-7A>C |
single nucleotide variant |
not provided [RCV003737466] |
Chr18:21516606 [GRCh38] Chr18:19096567 [GRCh37] Chr18:18q11.2 |
benign |
NM_001142966.3(GREB1L):c.3392-18C>T |
single nucleotide variant |
not provided [RCV003684416] |
Chr18:21499711 [GRCh38] Chr18:19079672 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.5212A>G (p.Met1738Val) |
single nucleotide variant |
not provided [RCV003867988] |
Chr18:21516695 [GRCh38] Chr18:19096656 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3810A>G (p.Pro1270=) |
single nucleotide variant |
not provided [RCV003556932] |
Chr18:21500147 [GRCh38] Chr18:19080108 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.1474G>C (p.Ala492Pro) |
single nucleotide variant |
not provided [RCV003557199] |
Chr18:21449590 [GRCh38] Chr18:19029551 [GRCh37] Chr18:18q11.1 |
uncertain significance |
GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3 |
copy number gain |
not specified [RCV003987288] |
Chr18:18529339..26968022 [GRCh37] Chr18:18q11.1-12.1 |
uncertain significance |
GRCh37/hg19 18q11.1(chr18:18540833-18833060)x3 |
copy number gain |
not specified [RCV003987290] |
Chr18:18540833..18833060 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1068G>A (p.Thr356=) |
single nucleotide variant |
not provided [RCV003722667] |
Chr18:21440387 [GRCh38] Chr18:19020348 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.962T>A (p.Ile321Asn) |
single nucleotide variant |
not provided [RCV003722246] |
Chr18:21440281 [GRCh38] Chr18:19020242 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4711G>A (p.Gly1571Ser) |
single nucleotide variant |
not provided [RCV003554786] |
Chr18:21508567 [GRCh38] Chr18:19088528 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.1191A>G (p.Arg397=) |
single nucleotide variant |
not provided [RCV003721967] |
Chr18:21441521 [GRCh38] Chr18:19021482 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.5088C>T (p.Leu1696=) |
single nucleotide variant |
not provided [RCV003553327] |
Chr18:21515603 [GRCh38] Chr18:19095564 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.3915C>T (p.Ala1305=) |
single nucleotide variant |
not provided [RCV003551234] |
Chr18:21500252 [GRCh38] Chr18:19080213 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.455A>G (p.Asn152Ser) |
single nucleotide variant |
not provided [RCV003728646] |
Chr18:21395484 [GRCh38] Chr18:18975445 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1549G>A (p.Val517Ile) |
single nucleotide variant |
not provided [RCV003821592] |
Chr18:21449665 [GRCh38] Chr18:19029626 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.783C>T (p.Thr261=) |
single nucleotide variant |
GREB1L-related disorder [RCV003899394] |
Chr18:21403945 [GRCh38] Chr18:18983906 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1662T>C (p.Tyr554=) |
single nucleotide variant |
GREB1L-related disorder [RCV003982039] |
Chr18:21449778 [GRCh38] Chr18:19029739 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2383T>C (p.Ser795Pro) |
single nucleotide variant |
GREB1L-related disorder [RCV003921546] |
Chr18:21477183 [GRCh38] Chr18:19057144 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3840G>A (p.Glu1280=) |
single nucleotide variant |
GREB1L-related disorder [RCV003893852] |
Chr18:21500177 [GRCh38] Chr18:19080138 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.2182+4A>G |
single nucleotide variant |
GREB1L-related disorder [RCV003952271] |
Chr18:21454567 [GRCh38] Chr18:19034528 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2125A>G (p.Ile709Val) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV004555508] |
Chr18:21454506 [GRCh38] Chr18:19034467 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2173C>A (p.Arg725=) |
single nucleotide variant |
GREB1L-related disorder [RCV003943975] |
Chr18:21454554 [GRCh38] Chr18:19034515 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1278C>G (p.Cys426Trp) |
single nucleotide variant |
GREB1L-related disorder [RCV003961606] |
Chr18:21444294 [GRCh38] Chr18:19024255 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.2690+9T>C |
single nucleotide variant |
GREB1L-related disorder [RCV003917264] |
Chr18:21485762 [GRCh38] Chr18:19065723 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1850-6T>C |
single nucleotide variant |
GREB1L-related disorder [RCV003959199] |
Chr18:21452077 [GRCh38] Chr18:19032038 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1208-9T>C |
single nucleotide variant |
GREB1L-related disorder [RCV003934257] |
Chr18:21444215 [GRCh38] Chr18:19024176 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1907_1910dup (p.Pro638fs) |
duplication |
GREB1L-related disorder [RCV003982696] |
Chr18:21452139..21452140 [GRCh38] Chr18:19032100..19032101 [GRCh37] Chr18:18q11.1 |
pathogenic |
NM_001142966.3(GREB1L):c.1171C>G (p.Leu391Val) |
single nucleotide variant |
GREB1L-related disorder [RCV003982719] |
Chr18:21441501 [GRCh38] Chr18:19021462 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4735+6G>A |
single nucleotide variant |
GREB1L-related disorder [RCV003944406] |
Chr18:21508597 [GRCh38] Chr18:19088558 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.-7G>A |
single nucleotide variant |
GREB1L-related disorder [RCV003941769] |
Chr18:21383512 [GRCh38] Chr18:18963473 [GRCh37] Chr18:18q11.1 |
benign |
NM_001142966.3(GREB1L):c.311C>T (p.Pro104Leu) |
single nucleotide variant |
Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991612] |
Chr18:21384359 [GRCh38] Chr18:18964320 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.3219G>C (p.Val1073=) |
single nucleotide variant |
GREB1L-related disorder [RCV003893847] |
Chr18:21496526 [GRCh38] Chr18:19076487 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3146+5A>T |
single nucleotide variant |
GREB1L-related disorder [RCV003957070] |
Chr18:21495790 [GRCh38] Chr18:19075751 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.23A>C (p.Gln8Pro) |
single nucleotide variant |
Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991611] |
Chr18:21383541 [GRCh38] Chr18:18963502 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.5472+7del |
deletion |
GREB1L-related disorder [RCV003896952] |
Chr18:21518237 [GRCh38] Chr18:19098198 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.2571C>T (p.Cys857=) |
single nucleotide variant |
GREB1L-related disorder [RCV003904592] |
Chr18:21485634 [GRCh38] Chr18:19065595 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.1147_1153del (p.Thr383fs) |
deletion |
Renal hypodysplasia/aplasia 3 [RCV003991337] |
Chr18:21441475..21441481 [GRCh38] Chr18:19021436..19021442 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.1984+5T>C |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV004555299] |
Chr18:21452222 [GRCh38] Chr18:19032183 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.297C>T (p.Asn99=) |
single nucleotide variant |
not provided [RCV004546130] |
Chr18:21384345 [GRCh38] Chr18:18964306 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3944G>A (p.Arg1315Gln) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV004566599] |
Chr18:21500281 [GRCh38] Chr18:19080242 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.1394G>A (p.Gly465Asp) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV004666696] |
Chr18:21449510 [GRCh38] Chr18:19029471 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2715C>G (p.Val905=) |
single nucleotide variant |
not provided [RCV004598958] |
Chr18:21490036 [GRCh38] Chr18:19069997 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3849_3850del (p.Tyr1284fs) |
microsatellite |
Renal hypodysplasia/aplasia 3 [RCV004566644] |
Chr18:21500184..21500185 [GRCh38] Chr18:19080145..19080146 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.3907del (p.Asp1303fs) |
deletion |
Renal hypodysplasia/aplasia 3 [RCV004598377] |
Chr18:21500243 [GRCh38] Chr18:19080204 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.1708G>A (p.Val570Met) |
single nucleotide variant |
Hearing loss, autosomal dominant 80 [RCV004595177] |
Chr18:21449824 [GRCh38] Chr18:19029785 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.390A>G (p.Val130=) |
single nucleotide variant |
not provided [RCV004575064] |
Chr18:21395419 [GRCh38] Chr18:18975380 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.3925C>T (p.Arg1309Ter) |
single nucleotide variant |
not provided [RCV004576102] |
Chr18:21500262 [GRCh38] Chr18:19080223 [GRCh37] Chr18:18q11.2 |
likely pathogenic |
NM_001142966.3(GREB1L):c.1363C>T (p.Leu455Phe) |
single nucleotide variant |
not provided [RCV004794877] |
Chr18:21444379 [GRCh38] Chr18:19024340 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.3553_3555delinsCAG (p.Glu1185Gln) |
indel |
not provided [RCV004772269] |
Chr18:21499890..21499892 [GRCh38] Chr18:19079851..19079853 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1220T>C (p.Leu407Ser) |
single nucleotide variant |
GREB1L-related disorder [RCV004748184] |
Chr18:21444236 [GRCh38] Chr18:19024197 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.2768C>T (p.Thr923Ile) |
single nucleotide variant |
not provided [RCV004810122] |
Chr18:21490089 [GRCh38] Chr18:19070050 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4969G>A (p.Ala1657Thr) |
single nucleotide variant |
GREB1L-related disorder [RCV004748310] |
Chr18:21515484 [GRCh38] Chr18:19095445 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.4710C>T (p.Pro1570=) |
single nucleotide variant |
GREB1L-related disorder [RCV004750088] |
Chr18:21508566 [GRCh38] Chr18:19088527 [GRCh37] Chr18:18q11.2 |
likely benign |
NM_001142966.3(GREB1L):c.503C>T (p.Pro168Leu) |
single nucleotide variant |
GREB1L-related disorder [RCV004730460] |
Chr18:21395532 [GRCh38] Chr18:18975493 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.4513C>T (p.Pro1505Ser) |
single nucleotide variant |
not provided [RCV004811369] |
Chr18:21508262 [GRCh38] Chr18:19088223 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.5122T>C (p.Phe1708Leu) |
single nucleotide variant |
GREB1L-related disorder [RCV004749308] |
Chr18:21515637 [GRCh38] Chr18:19095598 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.3488dup (p.Leu1163fs) |
duplication |
GREB1L-related disorder [RCV004731721] |
Chr18:21499823..21499824 [GRCh38] Chr18:19079784..19079785 [GRCh37] Chr18:18q11.1 |
likely pathogenic |
NM_001142966.3(GREB1L):c.5071C>T (p.His1691Tyr) |
single nucleotide variant |
GREB1L-related disorder [RCV004732378] |
Chr18:21515586 [GRCh38] Chr18:19095547 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2019G>A (p.Pro673=) |
single nucleotide variant |
GREB1L-related disorder [RCV004748125] |
Chr18:21454400 [GRCh38] Chr18:19034361 [GRCh37] Chr18:18q11.1 |
likely benign |
NM_001142966.3(GREB1L):c.5128A>G (p.Arg1710Gly) |
single nucleotide variant |
not provided [RCV004772438] |
Chr18:21515643 [GRCh38] Chr18:19095604 [GRCh37] Chr18:18q11.2 |
uncertain significance |
NM_001142966.3(GREB1L):c.2360C>T (p.Thr787Met) |
single nucleotide variant |
Renal hypodysplasia/aplasia 3 [RCV004789853] |
Chr18:21473208 [GRCh38] Chr18:19053169 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.1124C>T (p.Pro375Leu) |
single nucleotide variant |
not provided [RCV004773810] |
Chr18:21441454 [GRCh38] Chr18:19021415 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.16G>A (p.Ala6Thr) |
single nucleotide variant |
GREB1L-related disorder [RCV004748133] |
Chr18:21383534 [GRCh38] Chr18:18963495 [GRCh37] Chr18:18q11.1 |
uncertain significance |
NM_001142966.3(GREB1L):c.5073T>A (p.His1691Gln) |
single nucleotide variant |
GREB1L-related disorder [RCV004730405] |
Chr18:21515588 [GRCh38] Chr18:19095549 [GRCh37] Chr18:18q11.2 |
uncertain significance |