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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BLTP1 | Human | Alkuraya-Kucinskas syndrome | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BLTP1 | Human | Alkuraya-Kucinskas syndrome | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:8125298 | PMID:10470851 | PMID:10718198 | PMID:14702039 | PMID:16386706 | PMID:16545529 | PMID:16632497 | PMID:17190194 | PMID:17554300 | PMID:17558408 | PMID:17999365 | PMID:18311140 |
PMID:18418394 | PMID:18840430 | PMID:19061490 | PMID:19302705 | PMID:19430480 | PMID:19455118 | PMID:19640479 | PMID:20190752 | PMID:20195357 | PMID:20197757 | PMID:20453842 | PMID:20553587 |
PMID:21873635 | PMID:22876110 | PMID:23128233 | PMID:23686814 | PMID:23817571 | PMID:24999842 | PMID:25037274 | PMID:25798074 | PMID:26485645 | PMID:26496610 | PMID:26841866 | PMID:27609421 |
PMID:28611215 | PMID:29290337 | PMID:29507755 | PMID:30021884 | PMID:30552067 | PMID:30575818 | PMID:30639242 | PMID:30906834 | PMID:31540829 | PMID:31736083 | PMID:31871319 | PMID:32590954 |
PMID:32657846 | PMID:32788342 | PMID:33961781 | PMID:34349018 | PMID:35015055 | PMID:35491307 | PMID:36543142 | PMID:37071682 | PMID:37689310 | PMID:37788672 | PMID:39358380 |
BLTP1 (Homo sapiens - human) |
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Bltp1 (Mus musculus - house mouse) |
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Bltp1 (Rattus norvegicus - Norway rat) |
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Bltp1 (Chinchilla lanigera - long-tailed chinchilla) |
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BLTP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BLTP1 (Canis lupus familiaris - dog) |
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Bltp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BLTP1 (Sus scrofa - pig) |
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BLTP1 (Chlorocebus sabaeus - green monkey) |
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Bltp1 (Heterocephalus glaber - naked mole-rat) |
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Variants in BLTP1
502 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001384125.1(BLTP1):c.1664C>T (p.Ala555Val) | single nucleotide variant | not provided [RCV000521758] | Chr4:122207550 [GRCh38] Chr4:123128705 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.683A>G (p.Asp228Gly) | single nucleotide variant | not provided [RCV000523534] | Chr4:122187950 [GRCh38] Chr4:123109105 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.648T>G (p.Asn216Lys) | single nucleotide variant | not provided [RCV000520408] | Chr4:122187915 [GRCh38] Chr4:123109070 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs) | deletion | Alkuraya-Kucinskas syndrome [RCV000576896] | Chr4:122238125 [GRCh38] Chr4:123159280 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV000576898]|not provided [RCV001662624]|not specified [RCV004024587] | Chr4:122239668 [GRCh38] Chr4:123160823 [GRCh37] Chr4:4q27 |
pathogenic|uncertain significance |
GRCh38/hg38 4q27(chr4:121636147-122327601)x3 | copy number gain | See cases [RCV000051634] | Chr4:121636147..122327601 [GRCh38] Chr4:122557302..123248756 [GRCh37] Chr4:122776752..123468206 [NCBI36] Chr4:4q27 |
uncertain significance |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 | copy number gain | See cases [RCV000051785] | Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 | copy number gain | See cases [RCV000051786] | Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] | Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3 |
pathogenic |
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 | copy number gain | See cases [RCV000051776] | Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3 |
pathogenic |
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 | copy number loss | See cases [RCV000053321] | Chr4:116630862..145429900 [GRCh38] Chr4:117552018..146351052 [GRCh37] Chr4:117771466..146570502 [NCBI36] Chr4:4q26-31.21 |
pathogenic |
NM_015312.3(KIAA1109):c.1074C>T (p.Phe358=) | single nucleotide variant | Malignant melanoma [RCV000060905] | Chr4:122196656 [GRCh38] Chr4:123117811 [GRCh37] Chr4:123337261 [NCBI36] Chr4:4q27 |
not provided |
NM_015312.3(KIAA1109):c.14242C>T (p.Pro4748Ser) | single nucleotide variant | Malignant melanoma [RCV000060906] | Chr4:122353954 [GRCh38] Chr4:123275109 [GRCh37] Chr4:123494559 [NCBI36] Chr4:4q27 |
not provided |
NM_001384125.1(BLTP1):c.10153G>C (p.Gly3385Arg) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV000576895] | Chr4:122309365 [GRCh38] Chr4:123230520 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.4533G>C (p.Gln1511His) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001332057] | Chr4:122240215 [GRCh38] Chr4:123161370 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 | copy number loss | See cases [RCV000143207] | Chr4:117351881..133565667 [GRCh38] Chr4:118273037..134486822 [GRCh37] Chr4:118492485..134706272 [NCBI36] Chr4:4q26-28.3 |
pathogenic |
NM_001384125.1(BLTP1):c.3341C>T (p.Pro1114Leu) | single nucleotide variant | not specified [RCV000202854] | Chr4:122234790 [GRCh38] Chr4:123155945 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV000576897]|Dandy-Walker syndrome [RCV000162181] | Chr4:122207168 [GRCh38] Chr4:123128323 [GRCh37] Chr4:4q27 |
pathogenic|likely pathogenic |
NM_001384125.1(BLTP1):c.2596G>A (p.Val866Ile) | single nucleotide variant | not provided [RCV000519057] | Chr4:122220453 [GRCh38] Chr4:123141608 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 | copy number gain | See cases [RCV000240392] | Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
NM_001384125.1(BLTP1):c.997dup (p.Ile333fs) | duplication | not provided [RCV000304431] | Chr4:122192323..122192324 [GRCh38] Chr4:123113478..123113479 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.6705G>C (p.Glu2235Asp) | single nucleotide variant | not provided [RCV003239158]|not specified [RCV004285670] | Chr4:122258786 [GRCh38] Chr4:123179941 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.428A>G (p.Asp143Gly) | single nucleotide variant | not specified [RCV004308959] | Chr4:122186105 [GRCh38] Chr4:123107260 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8423T>G (p.Phe2808Cys) | single nucleotide variant | not provided [RCV003238994]|not specified [RCV004285668] | Chr4:122272382 [GRCh38] Chr4:123193537 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13387C>T (p.Arg4463Ter) | single nucleotide variant | not provided [RCV000522604] | Chr4:122347773 [GRCh38] Chr4:123268928 [GRCh37] Chr4:4q27 |
pathogenic|uncertain significance |
NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV000626251] | Chr4:122186116 [GRCh38] Chr4:123107271 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1498+4A>G | single nucleotide variant | not provided [RCV000522188]|not specified [RCV004023588] | Chr4:122201130 [GRCh38] Chr4:123122285 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11827G>T (p.Gly3943Cys) | single nucleotide variant | not provided [RCV000523574]|not specified [RCV004601193] | Chr4:122333726 [GRCh38] Chr4:123254881 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 | copy number gain | See cases [RCV000511945] | Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 | copy number gain | See cases [RCV000510970] | Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV000576899]|not provided [RCV001755963] | Chr4:122226815 [GRCh38] Chr4:123147970 [GRCh37] Chr4:4q27 |
pathogenic|likely pathogenic|uncertain significance |
NM_001384125.1(BLTP1):c.5599G>A (p.Val1867Met) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV000576894] | Chr4:122249571 [GRCh38] Chr4:123170726 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.13295C>A (p.Thr4432Lys) | single nucleotide variant | not specified [RCV004316407] | Chr4:122347681 [GRCh38] Chr4:123268836 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14159T>C (p.Val4720Ala) | single nucleotide variant | not provided [RCV003239068] | Chr4:122352949 [GRCh38] Chr4:123274104 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3680A>C (p.His1227Pro) | single nucleotide variant | not specified [RCV004298994] | Chr4:122238197 [GRCh38] Chr4:123159352 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1272G>A (p.Met424Ile) | single nucleotide variant | not specified [RCV004307649] | Chr4:122197258 [GRCh38] Chr4:123118413 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10187A>G (p.Asp3396Gly) | single nucleotide variant | not specified [RCV004308855] | Chr4:122309399 [GRCh38] Chr4:123230554 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 | copy number loss | not provided [RCV000682448] | Chr4:116307857..129302960 [GRCh37] Chr4:4q26-28.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q27(chr4:123044585-123352851)x3 | copy number gain | not provided [RCV000743947] | Chr4:123044585..123352851 [GRCh37] Chr4:4q27 |
benign |
GRCh37/hg19 4q27(chr4:123090820-123377483)x3 | copy number gain | not provided [RCV000743948] | Chr4:123090820..123377483 [GRCh37] Chr4:4q27 |
benign |
GRCh37/hg19 4q27(chr4:123093276-123235447)x3 | copy number gain | not provided [RCV000743949] | Chr4:123093276..123235447 [GRCh37] Chr4:4q27 |
benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_001384125.1(BLTP1):c.9037+152A>G | single nucleotide variant | not provided [RCV001707289] | Chr4:122281926 [GRCh38] Chr4:123203081 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6075-60G>A | single nucleotide variant | not provided [RCV001691401] | Chr4:122254745 [GRCh38] Chr4:123175900 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.293+82G>C | single nucleotide variant | not provided [RCV001609514] | Chr4:122174734 [GRCh38] Chr4:123095889 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.7493+189C>T | single nucleotide variant | not provided [RCV001648207] | Chr4:122267147 [GRCh38] Chr4:123188302 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.215-26C>T | single nucleotide variant | not provided [RCV001610007] | Chr4:122174548 [GRCh38] Chr4:123095703 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.9673-153dup | duplication | not provided [RCV001667198] | Chr4:122305721..122305722 [GRCh38] Chr4:123226876..123226877 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.9870C>T (p.Ala3290=) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001730900]|not provided [RCV001648394] | Chr4:122307977 [GRCh38] Chr4:123229132 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.821+92A>C | single nucleotide variant | not provided [RCV001666397] | Chr4:122188180 [GRCh38] Chr4:123109335 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6664C>T (p.Arg2222Trp) | single nucleotide variant | not provided [RCV001647727] | Chr4:122258745 [GRCh38] Chr4:123179900 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4917-5dup | duplication | BLTP1-related disorder [RCV003933073]|not provided [RCV000918022] | Chr4:122245011..122245012 [GRCh38] Chr4:123166166..123166167 [GRCh37] Chr4:4q27 |
benign|likely benign |
NM_001384125.1(BLTP1):c.628-31A>G | single nucleotide variant | not provided [RCV001649004] | Chr4:122187864 [GRCh38] Chr4:123109019 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001730971]|not provided [RCV001691402] | Chr4:122271228 [GRCh38] Chr4:123192383 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.7317+81C>A | single nucleotide variant | not provided [RCV001668053] | Chr4:122264508 [GRCh38] Chr4:123185663 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.215-200A>G | single nucleotide variant | not provided [RCV001666314] | Chr4:122174374 [GRCh38] Chr4:123095529 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1380+9G>A | single nucleotide variant | not provided [RCV000899119] | Chr4:122199459 [GRCh38] Chr4:123120614 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.660G>A (p.Pro220=) | single nucleotide variant | not provided [RCV000968585] | Chr4:122187927 [GRCh38] Chr4:123109082 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.912G>A (p.Pro304=) | single nucleotide variant | not provided [RCV000968586] | Chr4:122192239 [GRCh38] Chr4:123113394 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.2355A>T (p.Gly785=) | single nucleotide variant | not provided [RCV000968587] | Chr4:122219447 [GRCh38] Chr4:123140602 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.11359C>A (p.Pro3787Thr) | single nucleotide variant | not provided [RCV000968588] | Chr4:122328203 [GRCh38] Chr4:123249358 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6081G>A (p.Leu2027=) | single nucleotide variant | BLTP1-related disorder [RCV003935985]|not provided [RCV000964465] | Chr4:122254811 [GRCh38] Chr4:123175966 [GRCh37] Chr4:4q27 |
benign|likely benign |
NM_001384125.1(BLTP1):c.11314C>A (p.His3772Asn) | single nucleotide variant | not specified [RCV004295914] | Chr4:122328158 [GRCh38] Chr4:123249313 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3845A>G (p.Glu1282Gly) | single nucleotide variant | not provided [RCV000954911] | Chr4:122239527 [GRCh38] Chr4:123160682 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln) | single nucleotide variant | Fetal akinesia deformation sequence 1 [RCV000855516] | Chr4:122239608 [GRCh38] Chr4:123160763 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_015312.3(KIAA1109):c.12874T>A (p.Ser4292Thr) | single nucleotide variant | Esophageal atresia [RCV000984740] | Chr4:122347524 [GRCh38] Chr4:123268679 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12340A>T (p.Thr4114Ser) | single nucleotide variant | not specified [RCV004289072] | Chr4:122336946 [GRCh38] Chr4:123258101 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His) | single nucleotide variant | Fetal akinesia deformation sequence 1 [RCV000855517] | Chr4:122336233 [GRCh38] Chr4:123257388 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.10123G>A (p.Ala3375Thr) | single nucleotide variant | not provided [RCV000998289] | Chr4:122309335 [GRCh38] Chr4:123230490 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002471008]|BLTP1-related disorder [RCV003928653]|not provided [RCV000998288] | Chr4:122187460 [GRCh38] Chr4:123108615 [GRCh37] Chr4:4q27 |
likely benign|uncertain significance |
GRCh37/hg19 4q27(chr4:122547684-123268279)x3 | copy number gain | not provided [RCV000849513] | Chr4:122547684..123268279 [GRCh37] Chr4:4q27 |
uncertain significance |
Single allele | deletion | Neurodevelopmental disorder [RCV000787448] | Chr4:116624547..126168646 [GRCh37] Chr4:4q26-28.1 |
likely pathogenic |
NM_001384125.1(BLTP1):c.1183del (p.Ile395fs) | deletion | Alkuraya-Kucinskas syndrome [RCV000985212] | Chr4:122196764 [GRCh38] Chr4:123117919 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q27(chr4:122837799-123297146)x3 | copy number gain | not provided [RCV001005595] | Chr4:122837799..123297146 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.1381-2A>G | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV000991428] | Chr4:122201007 [GRCh38] Chr4:123122162 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.4118C>G (p.Ser1373Cys) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001196393] | Chr4:122239800 [GRCh38] Chr4:123160955 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5482C>G (p.His1828Asp) | single nucleotide variant | not specified [RCV004317949] | Chr4:122247327 [GRCh38] Chr4:123168482 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5126C>A (p.Thr1709Lys) | single nucleotide variant | not provided [RCV003235961] | Chr4:122246240 [GRCh38] Chr4:123167395 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1655-9C>T | single nucleotide variant | not provided [RCV001720727] | Chr4:122207532 [GRCh38] Chr4:123128687 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4672-107A>G | single nucleotide variant | not provided [RCV001720761] | Chr4:122242891 [GRCh38] Chr4:123164046 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1752+50T>G | single nucleotide variant | not provided [RCV001686019] | Chr4:122207688 [GRCh38] Chr4:123128843 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.2038+169G>A | single nucleotide variant | not provided [RCV001635945] | Chr4:122210093 [GRCh38] Chr4:123131248 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.12275-105G>A | single nucleotide variant | not provided [RCV001597614] | Chr4:122336776 [GRCh38] Chr4:123257931 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.13393+137del | deletion | not provided [RCV001695653] | Chr4:122347900 [GRCh38] Chr4:123269055 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.2933T>C (p.Ile978Thr) | single nucleotide variant | not provided [RCV001688251] | Chr4:122229131 [GRCh38] Chr4:123150286 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.14900-9T>C | single nucleotide variant | not provided [RCV001721585] | Chr4:122359548 [GRCh38] Chr4:123280703 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4916+4T>G | single nucleotide variant | BLTP1-related disorder [RCV003921262]|not provided [RCV001613614] | Chr4:122244031 [GRCh38] Chr4:123165186 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.7141+72G>A | single nucleotide variant | not provided [RCV001676572] | Chr4:122263672 [GRCh38] Chr4:123184827 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.13318A>G (p.Thr4440Ala) | single nucleotide variant | BLTP1-related disorder [RCV003980858]|not provided [RCV001648990] | Chr4:122347704 [GRCh38] Chr4:123268859 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.3575-92_3575-91dup | duplication | not provided [RCV001620305] | Chr4:122237981..122237982 [GRCh38] Chr4:123159136..123159137 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.2922+148C>G | single nucleotide variant | not provided [RCV001667590] | Chr4:122226983 [GRCh38] Chr4:123148138 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.11514-77A>G | single nucleotide variant | not provided [RCV001676956] | Chr4:122331249 [GRCh38] Chr4:123252404 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4916+186T>G | single nucleotide variant | not provided [RCV001685628] | Chr4:122244213 [GRCh38] Chr4:123165368 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5793G>C (p.Leu1931=) | single nucleotide variant | not provided [RCV000928110] | Chr4:122250444 [GRCh38] Chr4:123171599 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.9417C>T (p.Asn3139=) | single nucleotide variant | BLTP1-related disorder [RCV004753123]|not provided [RCV000928111] | Chr4:122301328 [GRCh38] Chr4:123222483 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.14640G>A (p.Leu4880=) | single nucleotide variant | not provided [RCV000975051] | Chr4:122355866 [GRCh38] Chr4:123277021 [GRCh37] Chr4:4q27 |
benign|likely benign |
NM_001384125.1(BLTP1):c.11043C>T (p.Tyr3681=) | single nucleotide variant | BLTP1-related disorder [RCV003930740]|not provided [RCV000889011] | Chr4:122324474 [GRCh38] Chr4:123245629 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1655-9C>A | single nucleotide variant | BLTP1-related disorder [RCV003895555]|not provided [RCV000913950] | Chr4:122207532 [GRCh38] Chr4:123128687 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.14511C>T (p.Pro4837=) | single nucleotide variant | BLTP1-related disorder [RCV003943080]|not provided [RCV000956254] | Chr4:122353959 [GRCh38] Chr4:123275114 [GRCh37] Chr4:4q27 |
benign|likely benign |
NM_001384125.1(BLTP1):c.6160T>C (p.Leu2054=) | single nucleotide variant | BLTP1-related disorder [RCV003968124]|not provided [RCV000890936] | Chr4:122254890 [GRCh38] Chr4:123176045 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.214+8T>G | single nucleotide variant | BLTP1-related disorder [RCV003960670]|not provided [RCV000956253] | Chr4:122173160 [GRCh38] Chr4:123094315 [GRCh37] Chr4:4q27 |
benign|likely benign |
NM_001384125.1(BLTP1):c.1498+96A>G | single nucleotide variant | not provided [RCV001720721] | Chr4:122201222 [GRCh38] Chr4:123122377 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.3834-25G>A | single nucleotide variant | not provided [RCV001720722] | Chr4:122239491 [GRCh38] Chr4:123160646 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.13896-37G>A | single nucleotide variant | not provided [RCV001720763] | Chr4:122349820 [GRCh38] Chr4:123270975 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.10312+103A>T | single nucleotide variant | not provided [RCV001720775] | Chr4:122313790 [GRCh38] Chr4:123234945 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.3833+78T>C | single nucleotide variant | not provided [RCV001659568] | Chr4:122238428 [GRCh38] Chr4:123159583 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.12112+49G>T | single nucleotide variant | not provided [RCV001657054] | Chr4:122334594 [GRCh38] Chr4:123255749 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.14764+47C>G | single nucleotide variant | not provided [RCV001621086] | Chr4:122356037 [GRCh38] Chr4:123277192 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1752+108T>A | single nucleotide variant | not provided [RCV001660991] | Chr4:122207746 [GRCh38] Chr4:123128901 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.7317+100C>A | single nucleotide variant | not provided [RCV001619755] | Chr4:122264527 [GRCh38] Chr4:123185682 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.12617-80T>C | single nucleotide variant | not provided [RCV001598322] | Chr4:122343330 [GRCh38] Chr4:123264485 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4671+111A>G | single nucleotide variant | not provided [RCV001655994] | Chr4:122240464 [GRCh38] Chr4:123161619 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1053-61T>C | single nucleotide variant | not provided [RCV001595903] | Chr4:122196574 [GRCh38] Chr4:123117729 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1932-87A>G | single nucleotide variant | not provided [RCV001649343] | Chr4:122209731 [GRCh38] Chr4:123130886 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.8798+175A>T | single nucleotide variant | not provided [RCV001658549] | Chr4:122280156 [GRCh38] Chr4:123201311 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5372G>A (p.Arg1791Lys) | single nucleotide variant | not provided [RCV001573005]|not specified [RCV004039394] | Chr4:122247217 [GRCh38] Chr4:123168372 [GRCh37] Chr4:4q27 |
likely benign|uncertain significance |
NM_001384125.1(BLTP1):c.13394-218T>G | single nucleotide variant | not provided [RCV001658943] | Chr4:122348349 [GRCh38] Chr4:123269504 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5312+159_5312+160del | microsatellite | not provided [RCV001636232] | Chr4:122246967..122246968 [GRCh38] Chr4:123168122..123168123 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6197T>A (p.Met2066Lys) | single nucleotide variant | not provided [RCV002473419] | Chr4:122254927 [GRCh38] Chr4:123176082 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2974A>G (p.Met992Val) | single nucleotide variant | not specified [RCV004325002] | Chr4:122229172 [GRCh38] Chr4:123150327 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10457A>G (p.Asp3486Gly) | single nucleotide variant | not specified [RCV004311358] | Chr4:122315606 [GRCh38] Chr4:123236761 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9222T>G (p.Asp3074Glu) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002470595] | Chr4:122286725 [GRCh38] Chr4:123207880 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10741-5T>C | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002472096] | Chr4:122316727 [GRCh38] Chr4:123237882 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12818-196G>A | single nucleotide variant | not provided [RCV001651487] | Chr4:122344186 [GRCh38] Chr4:123265341 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.13896-77G>A | single nucleotide variant | not provided [RCV001687941] | Chr4:122349780 [GRCh38] Chr4:123270935 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.822-199A>G | single nucleotide variant | not provided [RCV001688437] | Chr4:122189801 [GRCh38] Chr4:123110956 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.14620A>G (p.Thr4874Ala) | single nucleotide variant | BLTP1-related disorder [RCV003921289]|not provided [RCV001636536] | Chr4:122355846 [GRCh38] Chr4:123277001 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.294-167C>T | single nucleotide variant | not provided [RCV001720735] | Chr4:122175683 [GRCh38] Chr4:123096838 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.11911-180G>C | single nucleotide variant | not provided [RCV001720765] | Chr4:122334164 [GRCh38] Chr4:123255319 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5923-227C>A | single nucleotide variant | not provided [RCV001720770] | Chr4:122253968 [GRCh38] Chr4:123175123 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.14073G>A (p.Lys4691=) | single nucleotide variant | BLTP1-related disorder [RCV003913342]|not provided [RCV001720774] | Chr4:122350034 [GRCh38] Chr4:123271189 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1289-119G>A | single nucleotide variant | not provided [RCV001621722] | Chr4:122199240 [GRCh38] Chr4:123120395 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.-33-92C>T | single nucleotide variant | not provided [RCV001688464] | Chr4:122170523 [GRCh38] Chr4:123091678 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4494C>T (p.Pro1498=) | single nucleotide variant | BLTP1-related disorder [RCV003913341]|not provided [RCV001720764] | Chr4:122240176 [GRCh38] Chr4:123161331 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.12997+175T>A | single nucleotide variant | not provided [RCV001720767] | Chr4:122344736 [GRCh38] Chr4:123265891 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.901+120C>A | single nucleotide variant | not provided [RCV001641258] | Chr4:122190199 [GRCh38] Chr4:123111354 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6378+128C>T | single nucleotide variant | not provided [RCV001717931] | Chr4:122255411 [GRCh38] Chr4:123176566 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.9389-27dup | duplication | not provided [RCV001657618] | Chr4:122301262..122301263 [GRCh38] Chr4:123222417..123222418 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1753-156_1753-155del | deletion | not provided [RCV001721655] | Chr4:122208986..122208987 [GRCh38] Chr4:123130141..123130142 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.8447-62T>G | single nucleotide variant | not provided [RCV001685699] | Chr4:122274281 [GRCh38] Chr4:123195436 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.7318-69C>T | single nucleotide variant | not provided [RCV001613516] | Chr4:122266714 [GRCh38] Chr4:123187869 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6982+147G>T | single nucleotide variant | not provided [RCV001710725] | Chr4:122263130 [GRCh38] Chr4:123184285 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.627+95G>A | single nucleotide variant | not provided [RCV001661258] | Chr4:122187607 [GRCh38] Chr4:123108762 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6619+212T>C | single nucleotide variant | not provided [RCV001656127] | Chr4:122257707 [GRCh38] Chr4:123178862 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.8201-69A>G | single nucleotide variant | not provided [RCV001686803] | Chr4:122272091 [GRCh38] Chr4:123193246 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.9389-27del | deletion | not provided [RCV001686931] | Chr4:122301263 [GRCh38] Chr4:123222418 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.9673-122C>G | single nucleotide variant | not provided [RCV001676848] | Chr4:122305755 [GRCh38] Chr4:123226910 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.8798+129G>A | single nucleotide variant | not provided [RCV001687365] | Chr4:122280110 [GRCh38] Chr4:123201265 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1655-4G>T | single nucleotide variant | not provided [RCV001686683] | Chr4:122207537 [GRCh38] Chr4:123128692 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5853T>A (p.Asp1951Glu) | single nucleotide variant | BLTP1-related disorder [RCV003975858]|not provided [RCV001669024] | Chr4:122250504 [GRCh38] Chr4:123171659 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.2475+17G>C | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001730871]|not provided [RCV001609607] | Chr4:122219584 [GRCh38] Chr4:123140739 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.10312+168G>C | single nucleotide variant | not provided [RCV001652687] | Chr4:122313855 [GRCh38] Chr4:123235010 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4917-82T>C | single nucleotide variant | not provided [RCV001651806] | Chr4:122244938 [GRCh38] Chr4:123166093 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.14580G>A (p.Leu4860=) | single nucleotide variant | not provided [RCV001685964] | Chr4:122355806 [GRCh38] Chr4:123276961 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.8540+91A>G | single nucleotide variant | not provided [RCV001696026] | Chr4:122274527 [GRCh38] Chr4:123195682 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.946A>G (p.Ser316Gly) | single nucleotide variant | not provided [RCV001665918] | Chr4:122192273 [GRCh38] Chr4:123113428 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.3575-91dup | duplication | not provided [RCV001708297] | Chr4:122237981..122237982 [GRCh38] Chr4:123159136..123159137 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.628-3del | deletion | not provided [RCV001611227] | Chr4:122187880 [GRCh38] Chr4:123109035 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.9388+156C>T | single nucleotide variant | not provided [RCV001714123] | Chr4:122289348 [GRCh38] Chr4:123210503 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.8787G>A (p.Gln2929=) | single nucleotide variant | BLTP1-related disorder [RCV003910931]|not provided [RCV001609645] | Chr4:122279970 [GRCh38] Chr4:123201125 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6983-186T>C | single nucleotide variant | not provided [RCV001707359] | Chr4:122263256 [GRCh38] Chr4:122263256..122263257 [GRCh38] Chr4:123184411 [GRCh37] Chr4:123184411..123184412 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4916+59G>A | single nucleotide variant | not provided [RCV001714143] | Chr4:122244086 [GRCh38] Chr4:123165241 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4743-209A>G | single nucleotide variant | not provided [RCV001649313] | Chr4:122243645 [GRCh38] Chr4:123164800 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.13545-212G>T | single nucleotide variant | not provided [RCV001694607] | Chr4:122348946 [GRCh38] Chr4:123270101 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.11260-209T>C | single nucleotide variant | not provided [RCV001672358] | Chr4:122327895 [GRCh38] Chr4:123249050 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1381-16_1381-12del | deletion | not provided [RCV001651719] | Chr4:122200992..122200996 [GRCh38] Chr4:123122147..123122151 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.12274+56T>C | single nucleotide variant | not provided [RCV001684874] | Chr4:122336409 [GRCh38] Chr4:123257564 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.11260-23A>G | single nucleotide variant | not provided [RCV001709004] | Chr4:122328081 [GRCh38] Chr4:123249236 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1209+9T>C | single nucleotide variant | not provided [RCV001681424] | Chr4:122196800 [GRCh38] Chr4:123117955 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.4927G>A (p.Ala1643Thr) | single nucleotide variant | not provided [RCV001529276]|not specified [RCV004039204] | Chr4:122245030 [GRCh38] Chr4:123166185 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6762+32C>T | single nucleotide variant | not provided [RCV001708224] | Chr4:122258875 [GRCh38] Chr4:123180030 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.12914_12915insCCTG (p.Ser4306fs) | insertion | not provided [RCV001208080] | Chr4:122344477..122344478 [GRCh38] Chr4:123265632..123265633 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.1156C>T (p.Arg386Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001196392] | Chr4:122196738 [GRCh38] Chr4:123117893 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.2431A>G (p.Thr811Ala) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001251434] | Chr4:122219523 [GRCh38] Chr4:123140678 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.14902A>G (p.Ile4968Val) | single nucleotide variant | Inborn genetic diseases [RCV001266296] | Chr4:122359559 [GRCh38] Chr4:123280714 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2618G>A (p.Arg873Gln) | single nucleotide variant | Inborn genetic diseases [RCV001266297] | Chr4:122224502 [GRCh38] Chr4:123145657 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1498+159T>C | single nucleotide variant | not provided [RCV001641899] | Chr4:122201285 [GRCh38] Chr4:123122440 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001262001] | Chr4:122331519 [GRCh38] Chr4:123252674 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3323+1G>A | single nucleotide variant | Clubfoot [RCV001257375] | Chr4:122230212 [GRCh38] Chr4:123151367 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.14113+11G>C | single nucleotide variant | Hemivertebrae [RCV001257377] | Chr4:122350085 [GRCh38] Chr4:123271240 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.692del (p.Phe231fs) | deletion | Clubfoot [RCV001257402] | Chr4:122187957 [GRCh38] Chr4:123109112 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.5184+4A>G | single nucleotide variant | not provided [RCV001268444] | Chr4:122246302 [GRCh38] Chr4:123167457 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.5499del (p.Asp1835fs) | deletion | not provided [RCV001268446] | Chr4:122247344 [GRCh38] Chr4:123168499 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.15048T>C (p.His5016=) | single nucleotide variant | not provided [RCV001536151] | Chr4:122359705 [GRCh38] Chr4:123280860 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5494_5497del (p.Arg1832fs) | deletion | not provided [RCV001268445] | Chr4:122247339..122247342 [GRCh38] Chr4:123168494..123168497 [GRCh37] Chr4:4q27 |
pathogenic |
GRCh37/hg19 4q27(chr4:122970877-123230315)x3 | copy number gain | not provided [RCV001259309] | Chr4:122970877..123230315 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.9153del (p.Val3052fs) | deletion | Hemivertebrae [RCV001257376] | Chr4:122286656 [GRCh38] Chr4:123207811 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.7096C>T (p.Gln2366Ter) | single nucleotide variant | not provided [RCV001572438] | Chr4:122263555 [GRCh38] Chr4:123184710 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001262000] | Chr4:122355854 [GRCh38] Chr4:123277009 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13909C>G (p.His4637Asp) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336274] | Chr4:122349870 [GRCh38] Chr4:123271025 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.822-3T>C | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336277] | Chr4:122189997 [GRCh38] Chr4:123111152 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4064C>T (p.Ser1355Leu) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336275] | Chr4:122239746 [GRCh38] Chr4:123160901 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3263del (p.His1088fs) | deletion | Alkuraya-Kucinskas syndrome [RCV001332056] | Chr4:122230151 [GRCh38] Chr4:123151306 [GRCh37] Chr4:4q27 |
pathogenic|likely pathogenic |
NM_001384125.1(BLTP1):c.3821A>G (p.Asp1274Gly) | single nucleotide variant | not provided [RCV001321975] | Chr4:122238338 [GRCh38] Chr4:123159493 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12610A>C (p.Ile4204Leu) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336273]|not specified [RCV004035807] | Chr4:122339402 [GRCh38] Chr4:123260557 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9225A>C (p.Glu3075Asp) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336279] | Chr4:122286728 [GRCh38] Chr4:123207883 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001374622]|not specified [RCV004037613] | Chr4:122229934 [GRCh38] Chr4:123151089 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10994G>A (p.Arg3665Gln) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001374623] | Chr4:122318269 [GRCh38] Chr4:123239424 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8411T>C (p.Ile2804Thr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336278]|not provided [RCV003229045]|not specified [RCV004035808] | Chr4:122272370 [GRCh38] Chr4:123193525 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12407G>A (p.Arg4136Gln) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336272] | Chr4:122337013 [GRCh38] Chr4:123258168 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4538T>C (p.Ile1513Thr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001336276]|BLTP1-related disorder [RCV003946002]|not provided [RCV004692571] | Chr4:122240220 [GRCh38] Chr4:123161375 [GRCh37] Chr4:4q27 |
likely benign|uncertain significance |
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) | copy number loss | Atypical behavior [RCV001352657] | Chr4:116833638..130232122 [GRCh37] Chr4:4q26-28.2 |
pathogenic |
NM_001384125.1(BLTP1):c.5184+119G>A | single nucleotide variant | not provided [RCV001540693] | Chr4:122246417 [GRCh38] Chr4:123167572 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.11514-43T>C | single nucleotide variant | not provided [RCV001541749] | Chr4:122331283 [GRCh38] Chr4:123252438 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6315A>G (p.Leu2105=) | single nucleotide variant | BLTP1-related disorder [RCV003921291]|not provided [RCV001645533] | Chr4:122255220 [GRCh38] Chr4:123176375 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.902-32A>G | single nucleotide variant | not provided [RCV001617506] | Chr4:122192197 [GRCh38] Chr4:123113352 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.2712T>A (p.Pro904=) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001730955]|not provided [RCV001684483] | Chr4:122224596 [GRCh38] Chr4:123145751 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1753-155del | deletion | not provided [RCV001674134] | Chr4:122208986 [GRCh38] Chr4:123130141 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5361A>G (p.Ser1787=) | single nucleotide variant | BLTP1-related disorder [RCV003921309]|not provided [RCV001665048] | Chr4:122247206 [GRCh38] Chr4:123168361 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.3575-17A>G | single nucleotide variant | not provided [RCV001671802] | Chr4:122238075 [GRCh38] Chr4:123159230 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.1655-117G>A | single nucleotide variant | not provided [RCV001694502] | Chr4:122207424 [GRCh38] Chr4:123128579 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.5184+22A>T | single nucleotide variant | not provided [RCV001668012] | Chr4:122246320 [GRCh38] Chr4:123167475 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.98-174C>T | single nucleotide variant | not provided [RCV001618119] | Chr4:122172862 [GRCh38] Chr4:123094017 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.6075-161dup | duplication | not provided [RCV001685878] | Chr4:122254636..122254637 [GRCh38] Chr4:123175791..123175792 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.3391G>A (p.Gly1131Ser) | single nucleotide variant | not provided [RCV002280541] | Chr4:122234840 [GRCh38] Chr4:123155995 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11413C>T (p.Arg3805Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001782338] | Chr4:122328257 [GRCh38] Chr4:123249412 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.13793C>T (p.Ser4598Leu) | single nucleotide variant | not provided [RCV001761255] | Chr4:122349540 [GRCh38] Chr4:123270695 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11771C>T (p.Pro3924Leu) | single nucleotide variant | not provided [RCV001763056]|not specified [RCV004601522] | Chr4:122333670 [GRCh38] Chr4:123254825 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.505C>T (p.Arg169Trp) | single nucleotide variant | not provided [RCV001769324] | Chr4:122186182 [GRCh38] Chr4:123107337 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1381-407del | deletion | not provided [RCV003238014] | Chr4:122200584 [GRCh38] Chr4:123121739 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11089C>T (p.Arg3697Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001782337] | Chr4:122324520 [GRCh38] Chr4:123245675 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.793C>T (p.Pro265Ser) | single nucleotide variant | not provided [RCV001772760]|not specified [RCV004040169] | Chr4:122188060 [GRCh38] Chr4:123109215 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11863A>G (p.Ser3955Gly) | single nucleotide variant | not provided [RCV001773100] | Chr4:122333762 [GRCh38] Chr4:123254917 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13258_13260dup (p.Met4420dup) | duplication | not provided [RCV003238015] | Chr4:122347643..122347644 [GRCh38] Chr4:123268798..123268799 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13162A>G (p.Ile4388Val) | single nucleotide variant | BLTP1-related disorder [RCV003956353]|not provided [RCV001772408] | Chr4:122347548 [GRCh38] Chr4:123268703 [GRCh37] Chr4:4q27 |
likely benign|uncertain significance |
NM_001384125.1(BLTP1):c.2935C>T (p.Pro979Ser) | single nucleotide variant | BLTP1-related disorder [RCV003913364]|not provided [RCV001765746] | Chr4:122229133 [GRCh38] Chr4:123150288 [GRCh37] Chr4:4q27 |
likely benign|uncertain significance |
NM_001384125.1(BLTP1):c.911C>T (p.Pro304Leu) | single nucleotide variant | not provided [RCV001786159] | Chr4:122192238 [GRCh38] Chr4:123113393 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3764C>T (p.Ser1255Phe) | single nucleotide variant | not provided [RCV001786057] | Chr4:122238281 [GRCh38] Chr4:123159436 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13928A>C (p.Asp4643Ala) | single nucleotide variant | not provided [RCV001774703] | Chr4:122349889 [GRCh38] Chr4:123271044 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13150A>G (p.Thr4384Ala) | single nucleotide variant | not provided [RCV001774721] | Chr4:122347536 [GRCh38] Chr4:123268691 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 | copy number loss | not provided [RCV001795851] | Chr4:114872547..138005267 [GRCh37] Chr4:4q26-28.3 |
pathogenic |
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV004527430]|not provided [RCV001764828] | Chr4:122246692 [GRCh38] Chr4:123167847 [GRCh37] Chr4:4q27 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001384125.1(BLTP1):c.5037+4A>G | single nucleotide variant | not provided [RCV001753917] | Chr4:122245144 [GRCh38] Chr4:123166299 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11158T>A (p.Ser3720Thr) | single nucleotide variant | not provided [RCV001774713] | Chr4:122325282 [GRCh38] Chr4:123246437 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9009G>A (p.Met3003Ile) | single nucleotide variant | not provided [RCV001754176] | Chr4:122281746 [GRCh38] Chr4:123202901 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1574T>C (p.Ile525Thr) | single nucleotide variant | not provided [RCV001754189] | Chr4:122207185 [GRCh38] Chr4:123128340 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001733672]|not provided [RCV003128787] | Chr4:122173086 [GRCh38] Chr4:123094241 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9370_9371dup (p.Val3124_Ile3125insTer) | duplication | Alkuraya-Kucinskas syndrome [RCV001783507] | Chr4:122289173..122289174 [GRCh38] Chr4:123210328..123210329 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.4287dup (p.Arg1430Ter) | duplication | Alkuraya-Kucinskas syndrome [RCV001783508] | Chr4:122239968..122239969 [GRCh38] Chr4:123161123..123161124 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.13271C>G (p.Pro4424Arg) | single nucleotide variant | not provided [RCV001763058] | Chr4:122347657 [GRCh38] Chr4:123268812 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.283A>G (p.Met95Val) | single nucleotide variant | not specified [RCV001822724] | Chr4:122174642 [GRCh38] Chr4:123095797 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4949C>G (p.Thr1650Ser) | single nucleotide variant | not provided [RCV001914349] | Chr4:122245052 [GRCh38] Chr4:123166207 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2783C>T (p.Thr928Ile) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001823090] | Chr4:122224667 [GRCh38] Chr4:123145822 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 | copy number gain | not provided [RCV001827738] | Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21 |
pathogenic |
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) | copy number gain | not specified [RCV002053446] | Chr4:104715235..145252595 [GRCh37] Chr4:4q24-31.21 |
pathogenic |
NM_001384125.1(BLTP1):c.11514-1G>A | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001844365] | Chr4:122331325 [GRCh38] Chr4:123252480 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.3221A>G (p.Asn1074Ser) | single nucleotide variant | not provided [RCV001911630]|not specified [RCV004041772] | Chr4:122230109 [GRCh38] Chr4:123151264 [GRCh37] Chr4:4q27 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001384125.1(BLTP1):c.11368C>T (p.Pro3790Ser) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001823091] | Chr4:122328212 [GRCh38] Chr4:123249367 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV001844364] | Chr4:122336937 [GRCh38] Chr4:123258092 [GRCh37] Chr4:4q27 |
pathogenic |
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) | copy number loss | not specified [RCV002053451] | Chr4:116888785..129649979 [GRCh37] Chr4:4q26-28.2 |
pathogenic |
NM_001384125.1(BLTP1):c.5342C>A (p.Ala1781Glu) | single nucleotide variant | not provided [RCV001982462] | Chr4:122247187 [GRCh38] Chr4:123168342 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13702+3A>G | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002086756] | Chr4:122349318 [GRCh38] Chr4:123270473 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_015312.4(BLTP1):c.7105C>A (p.Pro2369Thr) | single nucleotide variant | not provided [RCV002221713] | uncertain significance | |
NM_015312.4(BLTP1):c.808C>T (p.Leu270Phe) | single nucleotide variant | not provided [RCV002221792] | uncertain significance | |
NM_001384125.1(BLTP1):c.2992G>T (p.Asp998Tyr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002227619]|not specified [RCV004047249] | Chr4:122229190 [GRCh38] Chr4:123150345 [GRCh37] Chr4:4q27 |
uncertain significance |
NC_000004.11:g.(?_121616266)_(124323706_?)dup | duplication | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [RCV003113657] | Chr4:121616266..124323706 [GRCh37] Chr4:4q27-28.1 |
uncertain significance |
NM_001384125.1(BLTP1):c.4504T>A (p.Cys1502Ser) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV004784921] | Chr4:122240186 [GRCh38] Chr4:123161341 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14762A>C (p.Gln4921Pro) | single nucleotide variant | not provided [RCV003128917] | Chr4:122355988 [GRCh38] Chr4:123277143 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11650C>T (p.Arg3884Trp) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003131349] | Chr4:122331462 [GRCh38] Chr4:123252617 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2209_2247+201dup | duplication | Alkuraya-Kucinskas syndrome [RCV002227618] | Chr4:122211054..122211055 [GRCh38] Chr4:123132209..123132210 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9875A>T (p.Tyr3292Phe) | single nucleotide variant | not provided [RCV003129257] | Chr4:122307982 [GRCh38] Chr4:123229137 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003233059] | Chr4:122199380 [GRCh38] Chr4:123120535 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.14051C>T (p.Pro4684Leu) | single nucleotide variant | not provided [RCV003235965] | Chr4:122350012 [GRCh38] Chr4:123271167 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13135A>C (p.Thr4379Pro) | single nucleotide variant | not provided [RCV002275387] | Chr4:122346760 [GRCh38] Chr4:123267915 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3413G>C (p.Gly1138Ala) | single nucleotide variant | not provided [RCV002275741] | Chr4:122234862 [GRCh38] Chr4:123156017 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12617-2A>G | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002281888] | Chr4:122343408 [GRCh38] Chr4:123264563 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.4057C>G (p.Leu1353Val) | single nucleotide variant | not provided [RCV002273579] | Chr4:122239739 [GRCh38] Chr4:123160894 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11131C>T (p.Leu3711Phe) | single nucleotide variant | not specified [RCV004309781] | Chr4:122325255 [GRCh38] Chr4:123246410 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2014G>T (p.Ala672Ser) | single nucleotide variant | not provided [RCV002265258] | Chr4:122209900 [GRCh38] Chr4:123131055 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1270A>G (p.Met424Val) | single nucleotide variant | not provided [RCV002273485] | Chr4:122197256 [GRCh38] Chr4:123118411 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10258G>C (p.Val3420Leu) | single nucleotide variant | not provided [RCV003235960] | Chr4:122313633 [GRCh38] Chr4:123234788 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4719G>A (p.Met1573Ile) | single nucleotide variant | not specified [RCV003236255] | Chr4:122243045 [GRCh38] Chr4:123164200 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1410A>G (p.Ile470Met) | single nucleotide variant | not specified [RCV004312274] | Chr4:122201038 [GRCh38] Chr4:123122193 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12277G>C (p.Val4093Leu) | single nucleotide variant | BLTP1-related disorder [RCV003954084]|not specified [RCV004332460] | Chr4:122336883 [GRCh38] Chr4:123258038 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.13411T>A (p.Ser4471Thr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002470442] | Chr4:122348584 [GRCh38] Chr4:123269739 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14230A>G (p.Met4744Val) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV002470315] | Chr4:122353020 [GRCh38] Chr4:123274175 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1786G>A (p.Asp596Asn) | single nucleotide variant | not provided [RCV002308745] | Chr4:122209192 [GRCh38] Chr4:123130347 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1123G>A (p.Gly375Arg) | single nucleotide variant | not provided [RCV002308751] | Chr4:122196705 [GRCh38] Chr4:123117860 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13551A>C (p.Thr4517=) | single nucleotide variant | not provided [RCV002512260] | Chr4:122349164 [GRCh38] Chr4:123270319 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.13592G>A (p.Ser4531Asn) | single nucleotide variant | not provided [RCV002511452] | Chr4:122349205 [GRCh38] Chr4:123270360 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.944T>G (p.Met315Arg) | single nucleotide variant | not provided [RCV002511284] | Chr4:122192271 [GRCh38] Chr4:123113426 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3094G>A (p.Glu1032Lys) | single nucleotide variant | not provided [RCV002510179] | Chr4:122229982 [GRCh38] Chr4:123151137 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11183A>G (p.Asn3728Ser) | single nucleotide variant | not provided [RCV002510046]|not specified [RCV004064285] | Chr4:122325307 [GRCh38] Chr4:123246462 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.247del (p.Val83fs) | deletion | not provided [RCV003066019] | Chr4:122174606 [GRCh38] Chr4:123095761 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.901+49_901+53dup | duplication | Alkuraya-Kucinskas syndrome [RCV003131350] | Chr4:122190127..122190128 [GRCh38] Chr4:123111282..123111283 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3389T>C (p.Leu1130Pro) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003131351] | Chr4:122234838 [GRCh38] Chr4:123155993 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9505A>G (p.Thr3169Ala) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV004796536] | Chr4:122304816 [GRCh38] Chr4:123225971 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8246A>G (p.Asn2749Ser) | single nucleotide variant | not specified [RCV004253914] | Chr4:122272205 [GRCh38] Chr4:123193360 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13280T>G (p.Phe4427Cys) | single nucleotide variant | not specified [RCV004272235] | Chr4:122347666 [GRCh38] Chr4:123268821 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3131G>C (p.Arg1044Thr) | single nucleotide variant | not specified [RCV004274327] | Chr4:122230019 [GRCh38] Chr4:123151174 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4916+2T>C | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003146822] | Chr4:122244029 [GRCh38] Chr4:123165184 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.8500G>A (p.Val2834Ile) | single nucleotide variant | not specified [RCV004277589] | Chr4:122274396 [GRCh38] Chr4:123195551 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10784C>T (p.Pro3595Leu) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133861] | Chr4:122316775 [GRCh38] Chr4:123237930 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12692G>C (p.Ser4231Thr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133864] | Chr4:122343485 [GRCh38] Chr4:123264640 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9082C>T (p.Arg3028Cys) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133869] | Chr4:122286585 [GRCh38] Chr4:123207740 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1709C>T (p.Thr570Met) | single nucleotide variant | not specified [RCV004259190] | Chr4:122207595 [GRCh38] Chr4:123128750 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10079C>G (p.Thr3360Ser) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133863] | Chr4:122309291 [GRCh38] Chr4:123230446 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133867] | Chr4:122315600 [GRCh38] Chr4:123236755 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.10872-1G>C | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003146819] | Chr4:122318146 [GRCh38] Chr4:123239301 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.5435C>T (p.Ala1812Val) | single nucleotide variant | not specified [RCV004327129] | Chr4:122247280 [GRCh38] Chr4:123168435 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003146817] | Chr4:122188039 [GRCh38] Chr4:123109194 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.2730A>C (p.Leu910Phe) | single nucleotide variant | not specified [RCV004286263] | Chr4:122224614 [GRCh38] Chr4:123145769 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1297C>G (p.Pro433Ala) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003156046] | Chr4:122199367 [GRCh38] Chr4:123120522 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14593G>A (p.Asp4865Asn) | single nucleotide variant | not specified [RCV004266822] | Chr4:122355819 [GRCh38] Chr4:123276974 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2308G>A (p.Val770Ile) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133866] | Chr4:122219400 [GRCh38] Chr4:123140555 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133868]|BLTP1-related disorder [RCV003919017]|not specified [RCV004246009] | Chr4:122286712 [GRCh38] Chr4:123207867 [GRCh37] Chr4:4q27 |
likely benign|uncertain significance |
NM_001384125.1(BLTP1):c.14935G>C (p.Gly4979Arg) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003142596] | Chr4:122359592 [GRCh38] Chr4:123280747 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8713C>G (p.Pro2905Ala) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003133865] | Chr4:122279896 [GRCh38] Chr4:123201051 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11990A>G (p.Lys3997Arg) | single nucleotide variant | not specified [RCV004276111] | Chr4:122334423 [GRCh38] Chr4:123255578 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7387A>G (p.Met2463Val) | single nucleotide variant | not provided [RCV003227447] | Chr4:122266852 [GRCh38] Chr4:123188007 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2404C>G (p.Pro802Ala) | single nucleotide variant | not specified [RCV004277525] | Chr4:122219496 [GRCh38] Chr4:123140651 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7861T>C (p.Phe2621Leu) | single nucleotide variant | not specified [RCV004268088] | Chr4:122271385 [GRCh38] Chr4:123192540 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4357A>C (p.Thr1453Pro) | single nucleotide variant | not specified [RCV004327776] | Chr4:122240039 [GRCh38] Chr4:123161194 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4672G>A (p.Val1558Ile) | single nucleotide variant | not specified [RCV004323994] | Chr4:122242998 [GRCh38] Chr4:123164153 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1088A>G (p.Tyr363Cys) | single nucleotide variant | not specified [RCV004321484] | Chr4:122196670 [GRCh38] Chr4:123117825 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4081A>C (p.Ser1361Arg) | single nucleotide variant | not specified [RCV004315648] | Chr4:122239763 [GRCh38] Chr4:123160918 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14534A>G (p.Glu4845Gly) | single nucleotide variant | not specified [RCV004302111] | Chr4:122353982 [GRCh38] Chr4:123275137 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1957G>T (p.Val653Phe) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003328533]|not specified [RCV004334099] | Chr4:122209843 [GRCh38] Chr4:123130998 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2171A>G (p.His724Arg) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003328534] | Chr4:122211019 [GRCh38] Chr4:123132174 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5056A>G (p.Ile1686Val) | single nucleotide variant | not provided [RCV003325860] | Chr4:122246170 [GRCh38] Chr4:123167325 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3761C>T (p.Ser1254Leu) | single nucleotide variant | not provided [RCV003325773] | Chr4:122238278 [GRCh38] Chr4:123159433 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8923C>G (p.Pro2975Ala) | single nucleotide variant | not specified [RCV004337388] | Chr4:122281660 [GRCh38] Chr4:123202815 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.904C>T (p.Leu302Phe) | single nucleotide variant | not specified [RCV004354782] | Chr4:122192231 [GRCh38] Chr4:123113386 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003330465] | Chr4:122279923 [GRCh38] Chr4:123201078 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.14206G>C (p.Asp4736His) | single nucleotide variant | not specified [RCV004357015] | Chr4:122352996 [GRCh38] Chr4:123274151 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11398C>A (p.Gln3800Lys) | single nucleotide variant | not specified [RCV004361807] | Chr4:122328242 [GRCh38] Chr4:123249397 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.339C>A (p.Asn113Lys) | single nucleotide variant | not specified [RCV004334566] | Chr4:122175895 [GRCh38] Chr4:123097050 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12784G>C (p.Val4262Leu) | single nucleotide variant | not specified [RCV004362186] | Chr4:122343577 [GRCh38] Chr4:123264732 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13406A>C (p.Lys4469Thr) | single nucleotide variant | not specified [RCV004360462] | Chr4:122348579 [GRCh38] Chr4:123269734 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.143A>C (p.Asn48Thr) | single nucleotide variant | not specified [RCV004354840] | Chr4:122173081 [GRCh38] Chr4:123094236 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7613C>A (p.Ala2538Asp) | single nucleotide variant | BLTP1-related disorder [RCV003954096]|not specified [RCV004357159] | Chr4:122271137 [GRCh38] Chr4:123192292 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3683G>C (p.Ser1228Thr) | single nucleotide variant | not specified [RCV004361839] | Chr4:122238200 [GRCh38] Chr4:123159355 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11566A>G (p.Thr3856Ala) | single nucleotide variant | not specified [RCV004339018] | Chr4:122331378 [GRCh38] Chr4:123252533 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 | copy number gain | not provided [RCV003484198] | Chr4:117518683..168174703 [GRCh37] Chr4:4q26-32.3 |
pathogenic |
NM_001384125.1(BLTP1):c.11513+1G>C | single nucleotide variant | BLTP1-related disorder [RCV003397465] | Chr4:122328358 [GRCh38] Chr4:123249513 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.1918G>A (p.Val640Ile) | single nucleotide variant | BLTP1-related disorder [RCV003946602]|not provided [RCV003435146] | Chr4:122209324 [GRCh38] Chr4:123130479 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.10785G>A (p.Pro3595=) | single nucleotide variant | not provided [RCV003435148] | Chr4:122316776 [GRCh38] Chr4:123237931 [GRCh37] Chr4:4q27 |
likely benign |
GRCh37/hg19 4q27(chr4:122547685-123261107)x3 | copy number gain | not provided [RCV003484201] | Chr4:122547685..123261107 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.613G>A (p.Val205Ile) | single nucleotide variant | not provided [RCV003441239] | Chr4:122187498 [GRCh38] Chr4:123108653 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12354G>A (p.Ser4118=) | single nucleotide variant | BLTP1-related disorder [RCV003954191]|not provided [RCV003439488] | Chr4:122336960 [GRCh38] Chr4:123258115 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.4752T>G (p.Tyr1584Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003389589] | Chr4:122243863 [GRCh38] Chr4:123165018 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.12997+1G>T | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV004796535] | Chr4:122344562 [GRCh38] Chr4:123265717 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2736C>T (p.Tyr912=) | single nucleotide variant | BLTP1-related disorder [RCV003980924]|not provided [RCV003435147] | Chr4:122224620 [GRCh38] Chr4:123145775 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.14166A>G (p.Ser4722=) | single nucleotide variant | BLTP1-related disorder [RCV003908948]|not provided [RCV003435150] | Chr4:122352956 [GRCh38] Chr4:123274111 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.11393C>T (p.Pro3798Leu) | single nucleotide variant | BLTP1-related disorder [RCV003919193]|not provided [RCV003435149]|not specified [RCV004364598] | Chr4:122328237 [GRCh38] Chr4:123249392 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.1554A>C (p.Pro518=) | single nucleotide variant | not provided [RCV003439487] | Chr4:122207165 [GRCh38] Chr4:123128320 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.10312+2T>C | single nucleotide variant | BLTP1-related disorder [RCV003402515] | Chr4:122313689 [GRCh38] Chr4:123234844 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.9188A>G (p.His3063Arg) | single nucleotide variant | BLTP1-related disorder [RCV003392896]|not specified [RCV004362875] | Chr4:122286691 [GRCh38] Chr4:123207846 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11396T>C (p.Phe3799Ser) | single nucleotide variant | BLTP1-related disorder [RCV003399885] | Chr4:122328240 [GRCh38] Chr4:123249395 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12997G>A (p.Ala4333Thr) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003777336] | Chr4:122344561 [GRCh38] Chr4:123265716 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.1752+2T>G | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003594708] | Chr4:122207640 [GRCh38] Chr4:123128795 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.3674G>A (p.Arg1225Gln) | single nucleotide variant | not provided [RCV003542546] | Chr4:122238191 [GRCh38] Chr4:123159346 [GRCh37] Chr4:4q27 |
uncertain significance |
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 | copy number gain | not specified [RCV003986496] | Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2 |
pathogenic |
NM_001384125.1(BLTP1):c.6381C>T (p.Ser2127=) | single nucleotide variant | BLTP1-related disorder [RCV003942295] | Chr4:122257257 [GRCh38] Chr4:123178412 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.2772A>C (p.Thr924=) | single nucleotide variant | BLTP1-related disorder [RCV003893937] | Chr4:122224656 [GRCh38] Chr4:123145811 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.13989G>A (p.Lys4663=) | single nucleotide variant | BLTP1-related disorder [RCV003967075] | Chr4:122349950 [GRCh38] Chr4:123271105 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.3396C>T (p.Gly1132=) | single nucleotide variant | BLTP1-related disorder [RCV003904298] | Chr4:122234845 [GRCh38] Chr4:123156000 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.165T>C (p.Ile55=) | single nucleotide variant | BLTP1-related disorder [RCV003942054] | Chr4:122173103 [GRCh38] Chr4:123094258 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.8162G>T (p.Gly2721Val) | single nucleotide variant | not provided [RCV003884911] | Chr4:122271686 [GRCh38] Chr4:123192841 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1422G>A (p.Pro474=) | single nucleotide variant | BLTP1-related disorder [RCV003958934] | Chr4:122201050 [GRCh38] Chr4:123122205 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.4749G>A (p.Pro1583=) | single nucleotide variant | BLTP1-related disorder [RCV003958920] | Chr4:122243860 [GRCh38] Chr4:123165015 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.408T>C (p.Phe136=) | single nucleotide variant | BLTP1-related disorder [RCV003927149] | Chr4:122186085 [GRCh38] Chr4:123107240 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.1654G>A (p.Val552Met) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003990130] | Chr4:122207265 [GRCh38] Chr4:123128420 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3180A>C (p.Ala1060=) | single nucleotide variant | BLTP1-related disorder [RCV003946975] | Chr4:122230068 [GRCh38] Chr4:123151223 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.2096_2098del (p.Asp699_Arg700delinsGly) | deletion | not provided [RCV003886878] | Chr4:122210944..122210946 [GRCh38] Chr4:123132099..123132101 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4092A>T (p.Ser1364=) | single nucleotide variant | BLTP1-related disorder [RCV003901460] | Chr4:122239774 [GRCh38] Chr4:123160929 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.12981G>A (p.Thr4327=) | single nucleotide variant | BLTP1-related disorder [RCV003977057] | Chr4:122344545 [GRCh38] Chr4:123265700 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.9732A>G (p.Gly3244=) | single nucleotide variant | BLTP1-related disorder [RCV003902106] | Chr4:122305936 [GRCh38] Chr4:123227091 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.5784T>C (p.Gly1928=) | single nucleotide variant | BLTP1-related disorder [RCV003931499]|not provided [RCV004810595] | Chr4:122250435 [GRCh38] Chr4:123171590 [GRCh37] Chr4:4q27 |
benign|likely benign |
NM_001384125.1(BLTP1):c.2250A>G (p.Glu750=) | single nucleotide variant | BLTP1-related disorder [RCV003912057] | Chr4:122219342 [GRCh38] Chr4:123140497 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.8854A>G (p.Thr2952Ala) | single nucleotide variant | BLTP1-related disorder [RCV003964071] | Chr4:122281591 [GRCh38] Chr4:123202746 [GRCh37] Chr4:4q27 |
likely benign |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 | copy number gain | not provided [RCV003885507] | Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_001384125.1(BLTP1):c.5126C>T (p.Thr1709Ile) | single nucleotide variant | BLTP1-related disorder [RCV003951963] | Chr4:122246240 [GRCh38] Chr4:123167395 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.6378+10T>C | single nucleotide variant | BLTP1-related disorder [RCV003916802] | Chr4:122255293 [GRCh38] Chr4:123176448 [GRCh37] Chr4:4q27 |
benign |
NM_001384125.1(BLTP1):c.15G>A (p.Lys5=) | single nucleotide variant | BLTP1-related disorder [RCV003929631] | Chr4:122170662 [GRCh38] Chr4:123091817 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.13438GCA[1] (p.Ala4481del) | microsatellite | not provided [RCV003885062] | Chr4:122348610..122348612 [GRCh38] Chr4:123269765..123269767 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14957T>C (p.Ile4986Thr) | single nucleotide variant | BLTP1-related disorder [RCV003968981]|not specified [RCV004369873] | Chr4:122359614 [GRCh38] Chr4:123280769 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.5711-11del | deletion | BLTP1-related disorder [RCV003946814] | Chr4:122250344 [GRCh38] Chr4:123171499 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.660G>T (p.Pro220=) | single nucleotide variant | BLTP1-related disorder [RCV003951816] | Chr4:122187927 [GRCh38] Chr4:123109082 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.4221T>C (p.Asp1407=) | single nucleotide variant | BLTP1-related disorder [RCV003966856] | Chr4:122239903 [GRCh38] Chr4:123161058 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.2721C>T (p.Ser907=) | single nucleotide variant | not provided [RCV004554973] | Chr4:122224605 [GRCh38] Chr4:123145760 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11342G>C (p.Cys3781Ser) | single nucleotide variant | BLTP1-related disorder [RCV003981713]|not specified [RCV004369909] | Chr4:122328186 [GRCh38] Chr4:123249341 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8991G>A (p.Leu2997=) | single nucleotide variant | BLTP1-related disorder [RCV003981675] | Chr4:122281728 [GRCh38] Chr4:123202883 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.747T>C (p.Ile249=) | single nucleotide variant | BLTP1-related disorder [RCV003912097] | Chr4:122188014 [GRCh38] Chr4:123109169 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.9672+8C>T | single nucleotide variant | BLTP1-related disorder [RCV003912099] | Chr4:122304991 [GRCh38] Chr4:123226146 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.7209A>G (p.Gln2403=) | single nucleotide variant | BLTP1-related disorder [RCV003899246] | Chr4:122264319 [GRCh38] Chr4:123185474 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.15267C>T (p.Asp5089=) | single nucleotide variant | BLTP1-related disorder [RCV003904106] | Chr4:122362232 [GRCh38] Chr4:123283387 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.12514C>T (p.Leu4172=) | single nucleotide variant | BLTP1-related disorder [RCV003893730] | Chr4:122339306 [GRCh38] Chr4:123260461 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.6963T>C (p.Ser2321=) | single nucleotide variant | BLTP1-related disorder [RCV003934299] | Chr4:122262964 [GRCh38] Chr4:123184119 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.9568C>T (p.Arg3190Ter) | single nucleotide variant | BLTP1-related disorder [RCV003934323] | Chr4:122304879 [GRCh38] Chr4:123226034 [GRCh37] Chr4:4q27 |
likely pathogenic |
NM_001384125.1(BLTP1):c.3925C>T (p.Arg1309Ter) | single nucleotide variant | Alkuraya-Kucinskas syndrome [RCV003988584] | Chr4:122239607 [GRCh38] Chr4:123160762 [GRCh37] Chr4:4q27 |
pathogenic |
NM_001384125.1(BLTP1):c.3762A>G (p.Ser1254=) | single nucleotide variant | BLTP1-related disorder [RCV003894497] | Chr4:122238279 [GRCh38] Chr4:123159434 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.13941A>G (p.Val4647=) | single nucleotide variant | BLTP1-related disorder [RCV003924259] | Chr4:122349902 [GRCh38] Chr4:123271057 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.1189T>C (p.Leu397=) | single nucleotide variant | BLTP1-related disorder [RCV003901407] | Chr4:122196771 [GRCh38] Chr4:123117926 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.5076G>A (p.Glu1692=) | single nucleotide variant | BLTP1-related disorder [RCV003969537] | Chr4:122246190 [GRCh38] Chr4:123167345 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.2919C>T (p.Ser973=) | single nucleotide variant | BLTP1-related disorder [RCV003898916] | Chr4:122226832 [GRCh38] Chr4:123147987 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.10515T>C (p.Asp3505=) | single nucleotide variant | not provided [RCV003992998] | Chr4:122315664 [GRCh38] Chr4:123236819 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.11572C>T (p.Arg3858Cys) | single nucleotide variant | BLTP1-related disorder [RCV003977353]|not specified [RCV004369918] | Chr4:122331384 [GRCh38] Chr4:123252539 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.4032T>C (p.Asp1344=) | single nucleotide variant | BLTP1-related disorder [RCV003969834] | Chr4:122239714 [GRCh38] Chr4:123160869 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.14589T>C (p.Asn4863=) | single nucleotide variant | BLTP1-related disorder [RCV003949275] | Chr4:122355815 [GRCh38] Chr4:123276970 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.1029T>C (p.Tyr343=) | single nucleotide variant | BLTP1-related disorder [RCV003913819] | Chr4:122192356 [GRCh38] Chr4:123113511 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.9201G>A (p.Ser3067=) | single nucleotide variant | BLTP1-related disorder [RCV003914449] | Chr4:122286704 [GRCh38] Chr4:123207859 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.11904T>C (p.Asp3968=) | single nucleotide variant | BLTP1-related disorder [RCV003901582] | Chr4:122333803 [GRCh38] Chr4:123254958 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.1655-11_1655-10del | deletion | BLTP1-related disorder [RCV003914660] | Chr4:122207515..122207516 [GRCh38] Chr4:123128670..123128671 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.4162A>G (p.Met1388Val) | single nucleotide variant | not provided [RCV003885976] | Chr4:122239844 [GRCh38] Chr4:123160999 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13744A>G (p.Ile4582Val) | single nucleotide variant | not specified [RCV004431520] | Chr4:122349491 [GRCh38] Chr4:123270646 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13939G>A (p.Val4647Ile) | single nucleotide variant | not specified [RCV004431521] | Chr4:122349900 [GRCh38] Chr4:123271055 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1762G>A (p.Val588Ile) | single nucleotide variant | not specified [RCV004431529] | Chr4:122209168 [GRCh38] Chr4:123130323 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2177A>G (p.Glu726Gly) | single nucleotide variant | not specified [RCV004431534] | Chr4:122211025 [GRCh38] Chr4:123132180 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2198C>A (p.Ser733Tyr) | single nucleotide variant | not specified [RCV004431535] | Chr4:122211046 [GRCh38] Chr4:123132201 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2771C>G (p.Thr924Arg) | single nucleotide variant | not specified [RCV004431539] | Chr4:122224655 [GRCh38] Chr4:123145810 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3419T>G (p.Val1140Gly) | single nucleotide variant | not specified [RCV004431545] | Chr4:122234868 [GRCh38] Chr4:123156023 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3589A>G (p.Met1197Val) | single nucleotide variant | not specified [RCV004431547] | Chr4:122238106 [GRCh38] Chr4:123159261 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4543T>A (p.Trp1515Arg) | single nucleotide variant | not specified [RCV004431554] | Chr4:122240225 [GRCh38] Chr4:123161380 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5776G>C (p.Glu1926Gln) | single nucleotide variant | not specified [RCV004431568] | Chr4:122250427 [GRCh38] Chr4:123171582 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5858A>G (p.Asn1953Ser) | single nucleotide variant | not specified [RCV004431570] | Chr4:122250509 [GRCh38] Chr4:123171664 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.632G>A (p.Arg211His) | single nucleotide variant | not specified [RCV004431579] | Chr4:122187899 [GRCh38] Chr4:123109054 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6345G>T (p.Gln2115His) | single nucleotide variant | not specified [RCV004431581] | Chr4:122255250 [GRCh38] Chr4:123176405 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7108G>T (p.Val2370Phe) | single nucleotide variant | not specified [RCV004431593] | Chr4:122263567 [GRCh38] Chr4:123184722 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7130G>C (p.Ser2377Thr) | single nucleotide variant | not specified [RCV004431594] | Chr4:122263589 [GRCh38] Chr4:123184744 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7511T>C (p.Leu2504Pro) | single nucleotide variant | not specified [RCV004431598] | Chr4:122271035 [GRCh38] Chr4:123192190 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7585G>A (p.Val2529Met) | single nucleotide variant | not specified [RCV004431600] | Chr4:122271109 [GRCh38] Chr4:123192264 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7751A>T (p.Asp2584Val) | single nucleotide variant | not specified [RCV004431605] | Chr4:122271275 [GRCh38] Chr4:123192430 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8995G>A (p.Ala2999Thr) | single nucleotide variant | not specified [RCV004431612] | Chr4:122281732 [GRCh38] Chr4:123202887 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9800A>G (p.Asn3267Ser) | single nucleotide variant | not specified [RCV004431614] | Chr4:122306004 [GRCh38] Chr4:123227159 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11440A>G (p.Ser3814Gly) | single nucleotide variant | not specified [RCV004431501] | Chr4:122328284 [GRCh38] Chr4:123249439 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12022G>A (p.Ala4008Thr) | single nucleotide variant | not specified [RCV004431504] | Chr4:122334455 [GRCh38] Chr4:123255610 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12050C>T (p.Pro4017Leu) | single nucleotide variant | not specified [RCV004431505] | Chr4:122334483 [GRCh38] Chr4:123255638 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12653G>T (p.Arg4218Leu) | single nucleotide variant | not specified [RCV004431509] | Chr4:122343446 [GRCh38] Chr4:123264601 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13312C>A (p.Pro4438Thr) | single nucleotide variant | not specified [RCV004431516] | Chr4:122347698 [GRCh38] Chr4:123268853 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14486C>T (p.Thr4829Ile) | single nucleotide variant | not specified [RCV004431523] | Chr4:122353934 [GRCh38] Chr4:123275089 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2137A>G (p.Ile713Val) | single nucleotide variant | not specified [RCV004431533] | Chr4:122210985 [GRCh38] Chr4:123132140 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.2281G>A (p.Asp761Asn) | single nucleotide variant | not specified [RCV004431536] | Chr4:122219373 [GRCh38] Chr4:123140528 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2506A>G (p.Thr836Ala) | single nucleotide variant | not specified [RCV004431538] | Chr4:122220363 [GRCh38] Chr4:123141518 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2989G>A (p.Val997Ile) | single nucleotide variant | not specified [RCV004431542] | Chr4:122229187 [GRCh38] Chr4:123150342 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3020A>G (p.His1007Arg) | single nucleotide variant | not specified [RCV004431543] | Chr4:122229218 [GRCh38] Chr4:123150373 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3950G>A (p.Arg1317His) | single nucleotide variant | not specified [RCV004431551] | Chr4:122239632 [GRCh38] Chr4:123160787 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11383C>T (p.Pro3795Ser) | single nucleotide variant | not specified [RCV004431499] | Chr4:122328227 [GRCh38] Chr4:123249382 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13486A>G (p.Ile4496Val) | single nucleotide variant | not specified [RCV004431517] | Chr4:122348659 [GRCh38] Chr4:123269814 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1459A>T (p.Thr487Ser) | single nucleotide variant | not specified [RCV004431526] | Chr4:122201087 [GRCh38] Chr4:123122242 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4860A>T (p.Glu1620Asp) | single nucleotide variant | not specified [RCV004431559] | Chr4:122243971 [GRCh38] Chr4:123165126 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5110G>A (p.Ala1704Thr) | single nucleotide variant | not specified [RCV004431564] | Chr4:122246224 [GRCh38] Chr4:123167379 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.591A>T (p.Arg197Ser) | single nucleotide variant | not specified [RCV004431571] | Chr4:122187476 [GRCh38] Chr4:123108631 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6272C>A (p.Thr2091Lys) | single nucleotide variant | not specified [RCV004431575] | Chr4:122255177 [GRCh38] Chr4:123176332 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4955A>T (p.His1652Leu) | single nucleotide variant | not specified [RCV004431561] | Chr4:122245058 [GRCh38] Chr4:123166213 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5092A>G (p.Thr1698Ala) | single nucleotide variant | not specified [RCV004431562] | Chr4:122246206 [GRCh38] Chr4:123167361 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5821A>G (p.Thr1941Ala) | single nucleotide variant | not specified [RCV004431569] | Chr4:122250472 [GRCh38] Chr4:123171627 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6092G>T (p.Ser2031Ile) | single nucleotide variant | not specified [RCV004431573] | Chr4:122254822 [GRCh38] Chr4:123175977 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6332A>G (p.His2111Arg) | single nucleotide variant | not specified [RCV004431580] | Chr4:122255237 [GRCh38] Chr4:123176392 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6928G>T (p.Gly2310Cys) | single nucleotide variant | not specified [RCV004431588] | Chr4:122262929 [GRCh38] Chr4:123184084 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.697A>C (p.Thr233Pro) | single nucleotide variant | not specified [RCV004431589] | Chr4:122187964 [GRCh38] Chr4:123109119 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7597C>G (p.Gln2533Glu) | single nucleotide variant | not specified [RCV004431601] | Chr4:122271121 [GRCh38] Chr4:123192276 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6520G>A (p.Ala2174Thr) | single nucleotide variant | not specified [RCV004431584] | Chr4:122257396 [GRCh38] Chr4:123178551 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7372C>T (p.Pro2458Ser) | single nucleotide variant | not specified [RCV004431595] | Chr4:122266837 [GRCh38] Chr4:123187992 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7508A>G (p.Asn2503Ser) | single nucleotide variant | not specified [RCV004431597] | Chr4:122271032 [GRCh38] Chr4:123192187 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7687A>G (p.Ile2563Val) | single nucleotide variant | not specified [RCV004431604] | Chr4:122271211 [GRCh38] Chr4:123192366 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7899T>A (p.Asn2633Lys) | single nucleotide variant | not specified [RCV004431608] | Chr4:122271423 [GRCh38] Chr4:123192578 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11144G>A (p.Arg3715His) | single nucleotide variant | not specified [RCV004431498] | Chr4:122325268 [GRCh38] Chr4:123246423 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12956A>T (p.Lys4319Met) | single nucleotide variant | not specified [RCV004431511] | Chr4:122344520 [GRCh38] Chr4:123265675 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1295C>A (p.Thr432Asn) | single nucleotide variant | not specified [RCV004431512] | Chr4:122199365 [GRCh38] Chr4:123120520 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1300G>T (p.Ala434Ser) | single nucleotide variant | not specified [RCV004431514] | Chr4:122199370 [GRCh38] Chr4:123120525 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13576C>T (p.Arg4526Cys) | single nucleotide variant | not specified [RCV004431518] | Chr4:122349189 [GRCh38] Chr4:123270344 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1999A>G (p.Ile667Val) | single nucleotide variant | not specified [RCV004431532] | Chr4:122209885 [GRCh38] Chr4:123131040 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2485A>T (p.Thr829Ser) | single nucleotide variant | not specified [RCV004431537] | Chr4:122220342 [GRCh38] Chr4:123141497 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2881A>G (p.Ile961Val) | single nucleotide variant | not specified [RCV004431541] | Chr4:122226794 [GRCh38] Chr4:123147949 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3551A>C (p.Lys1184Thr) | single nucleotide variant | not specified [RCV004431546] | Chr4:122235000 [GRCh38] Chr4:123156155 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.472A>G (p.Ile158Val) | single nucleotide variant | not specified [RCV004431557] | Chr4:122186149 [GRCh38] Chr4:123107304 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4949C>T (p.Thr1650Ile) | single nucleotide variant | not specified [RCV004431560] | Chr4:122245052 [GRCh38] Chr4:123166207 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5341G>A (p.Ala1781Thr) | single nucleotide variant | not specified [RCV004431566] | Chr4:122247186 [GRCh38] Chr4:123168341 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6494C>T (p.Pro2165Leu) | single nucleotide variant | not specified [RCV004431582] | Chr4:122257370 [GRCh38] Chr4:123178525 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6565G>T (p.Gly2189Cys) | single nucleotide variant | not specified [RCV004431585] | Chr4:122257441 [GRCh38] Chr4:123178596 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6827A>G (p.His2276Arg) | single nucleotide variant | not specified [RCV004431586] | Chr4:122262828 [GRCh38] Chr4:123183983 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7850G>A (p.Arg2617His) | single nucleotide variant | not specified [RCV004431607] | Chr4:122271374 [GRCh38] Chr4:123192529 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9622A>C (p.Lys3208Gln) | single nucleotide variant | not specified [RCV004431613] | Chr4:122304933 [GRCh38] Chr4:123226088 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9808A>G (p.Ile3270Val) | single nucleotide variant | not specified [RCV004431615] | Chr4:122306012 [GRCh38] Chr4:123227167 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14641T>C (p.Leu4881=) | single nucleotide variant | not provided [RCV004546036] | Chr4:122355867 [GRCh38] Chr4:123277022 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.11417G>A (p.Arg3806Gln) | single nucleotide variant | not specified [RCV004431500] | Chr4:122328261 [GRCh38] Chr4:123249416 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13694A>G (p.Glu4565Gly) | single nucleotide variant | not specified [RCV004431519] | Chr4:122349307 [GRCh38] Chr4:123270462 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1421C>T (p.Pro474Leu) | single nucleotide variant | not specified [RCV004431522] | Chr4:122201049 [GRCh38] Chr4:123122204 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14773C>G (p.Leu4925Val) | single nucleotide variant | not specified [RCV004431525] | Chr4:122356629 [GRCh38] Chr4:123277784 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.15211C>A (p.Leu5071Ile) | single nucleotide variant | not specified [RCV004431528] | Chr4:122362176 [GRCh38] Chr4:123283331 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1889A>G (p.Gln630Arg) | single nucleotide variant | not specified [RCV004431530] | Chr4:122209295 [GRCh38] Chr4:123130450 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3871C>T (p.Pro1291Ser) | single nucleotide variant | not specified [RCV004431550] | Chr4:122239553 [GRCh38] Chr4:123160708 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.410A>G (p.His137Arg) | single nucleotide variant | not specified [RCV004431552] | Chr4:122186087 [GRCh38] Chr4:123107242 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5101C>G (p.Gln1701Glu) | single nucleotide variant | not specified [RCV004431563] | Chr4:122246215 [GRCh38] Chr4:123167370 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5970G>T (p.Met1990Ile) | single nucleotide variant | not specified [RCV004431572] | Chr4:122254242 [GRCh38] Chr4:123175397 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6512C>T (p.Pro2171Leu) | single nucleotide variant | not specified [RCV004431583] | Chr4:122257388 [GRCh38] Chr4:123178543 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7613C>T (p.Ala2538Val) | single nucleotide variant | not specified [RCV004431603] | Chr4:122271137 [GRCh38] Chr4:123192292 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11861C>G (p.Pro3954Arg) | single nucleotide variant | not specified [RCV004431503] | Chr4:122333760 [GRCh38] Chr4:123254915 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3841A>G (p.Thr1281Ala) | single nucleotide variant | not specified [RCV004431549] | Chr4:122239523 [GRCh38] Chr4:123160678 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4753A>G (p.Thr1585Ala) | single nucleotide variant | not specified [RCV004431558] | Chr4:122243864 [GRCh38] Chr4:123165019 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.625A>C (p.Thr209Pro) | single nucleotide variant | not specified [RCV004431574] | Chr4:122187510 [GRCh38] Chr4:123108665 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11006T>C (p.Leu3669Pro) | single nucleotide variant | not specified [RCV004431496] | Chr4:122324437 [GRCh38] Chr4:123245592 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11078C>A (p.Pro3693Gln) | single nucleotide variant | not specified [RCV004431497] | Chr4:122324509 [GRCh38] Chr4:123245664 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12305A>G (p.His4102Arg) | single nucleotide variant | not specified [RCV004431506] | Chr4:122336911 [GRCh38] Chr4:123258066 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12325A>G (p.Met4109Val) | single nucleotide variant | not specified [RCV004431507] | Chr4:122336931 [GRCh38] Chr4:123258086 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12934T>A (p.Phe4312Ile) | single nucleotide variant | not specified [RCV004431510] | Chr4:122344498 [GRCh38] Chr4:123265653 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13244C>T (p.Ala4415Val) | single nucleotide variant | not specified [RCV004431513] | Chr4:122347630 [GRCh38] Chr4:123268785 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14689A>G (p.Ile4897Val) | single nucleotide variant | not specified [RCV004431524] | Chr4:122355915 [GRCh38] Chr4:123277070 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14926A>G (p.Thr4976Ala) | single nucleotide variant | not specified [RCV004431527] | Chr4:122359583 [GRCh38] Chr4:123280738 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1943T>C (p.Val648Ala) | single nucleotide variant | not specified [RCV004431531] | Chr4:122209829 [GRCh38] Chr4:123130984 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.2867C>T (p.Pro956Leu) | single nucleotide variant | not specified [RCV004431540] | Chr4:122226780 [GRCh38] Chr4:123147935 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.330A>C (p.Lys110Asn) | single nucleotide variant | not specified [RCV004431544] | Chr4:122175886 [GRCh38] Chr4:123097041 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3748A>G (p.Lys1250Glu) | single nucleotide variant | not specified [RCV004431548] | Chr4:122238265 [GRCh38] Chr4:123159420 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4241C>T (p.Pro1414Leu) | single nucleotide variant | not specified [RCV004431553] | Chr4:122239923 [GRCh38] Chr4:123161078 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4595G>A (p.Arg1532His) | single nucleotide variant | not specified [RCV004431555] | Chr4:122240277 [GRCh38] Chr4:123161432 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4703T>C (p.Leu1568Ser) | single nucleotide variant | not specified [RCV004431556] | Chr4:122243029 [GRCh38] Chr4:123164184 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.512T>C (p.Ile171Thr) | single nucleotide variant | not specified [RCV004431565] | Chr4:122186189 [GRCh38] Chr4:123107344 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6283C>T (p.Arg2095Cys) | single nucleotide variant | not specified [RCV004431576] | Chr4:122255188 [GRCh38] Chr4:123176343 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6284G>A (p.Arg2095His) | single nucleotide variant | not specified [RCV004431578] | Chr4:122255189 [GRCh38] Chr4:123176344 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6994G>A (p.Ala2332Thr) | single nucleotide variant | not specified [RCV004431591] | Chr4:122263453 [GRCh38] Chr4:123184608 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7090G>A (p.Val2364Met) | single nucleotide variant | not specified [RCV004431592] | Chr4:122263549 [GRCh38] Chr4:123184704 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7542G>A (p.Met2514Ile) | single nucleotide variant | not specified [RCV004431599] | Chr4:122271066 [GRCh38] Chr4:123192221 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7604C>G (p.Ser2535Cys) | single nucleotide variant | not specified [RCV004431602] | Chr4:122271128 [GRCh38] Chr4:123192283 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7819A>G (p.Thr2607Ala) | single nucleotide variant | not specified [RCV004431606] | Chr4:122271343 [GRCh38] Chr4:123192498 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8960T>C (p.Ile2987Thr) | single nucleotide variant | not specified [RCV004431611] | Chr4:122281697 [GRCh38] Chr4:123202852 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.6835C>T (p.Arg2279Cys) | single nucleotide variant | not provided [RCV004721806]|not specified [RCV004431587] | Chr4:122262836 [GRCh38] Chr4:123183991 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.697A>G (p.Thr233Ala) | single nucleotide variant | not specified [RCV004431590] | Chr4:122187964 [GRCh38] Chr4:123109119 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.7469A>G (p.Glu2490Gly) | single nucleotide variant | not specified [RCV004431596] | Chr4:122266934 [GRCh38] Chr4:123188089 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8257A>G (p.Asn2753Asp) | single nucleotide variant | not specified [RCV004431609] | Chr4:122272216 [GRCh38] Chr4:123193371 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8851C>G (p.Pro2951Ala) | single nucleotide variant | not specified [RCV004431610] | Chr4:122281588 [GRCh38] Chr4:123202743 [GRCh37] Chr4:4q27 |
uncertain significance |
NC_000004.11:g.(?_121616266)_(124323706_?)del | deletion | not provided [RCV004580860] | Chr4:121616266..124323706 [GRCh37] Chr4:4q27-28.1 |
uncertain significance |
NM_001384125.1(BLTP1):c.4970T>C (p.Val1657Ala) | single nucleotide variant | not specified [RCV004600422] | Chr4:122245073 [GRCh38] Chr4:123166228 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3670T>G (p.Leu1224Val) | single nucleotide variant | not specified [RCV004600424] | Chr4:122238187 [GRCh38] Chr4:123159342 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2621C>A (p.Pro874His) | single nucleotide variant | not specified [RCV004600435] | Chr4:122224505 [GRCh38] Chr4:123145660 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2957A>G (p.Asp986Gly) | single nucleotide variant | not specified [RCV004600442] | Chr4:122229155 [GRCh38] Chr4:123150310 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12578G>A (p.Ser4193Asn) | single nucleotide variant | not specified [RCV004600417] | Chr4:122339370 [GRCh38] Chr4:123260525 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2465G>A (p.Arg822His) | single nucleotide variant | not specified [RCV004600418] | Chr4:122219557 [GRCh38] Chr4:123140712 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13384C>T (p.Pro4462Ser) | single nucleotide variant | not specified [RCV004600425] | Chr4:122347770 [GRCh38] Chr4:123268925 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.1667C>T (p.Ala556Val) | single nucleotide variant | not specified [RCV004600426] | Chr4:122207553 [GRCh38] Chr4:123128708 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3568A>G (p.Ile1190Val) | single nucleotide variant | not specified [RCV004600429] | Chr4:122235017 [GRCh38] Chr4:123156172 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.4774G>A (p.Ala1592Thr) | single nucleotide variant | not specified [RCV004600431] | Chr4:122243885 [GRCh38] Chr4:123165040 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.9327C>G (p.His3109Gln) | single nucleotide variant | not specified [RCV004600430] | Chr4:122289131 [GRCh38] Chr4:123210286 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3290A>G (p.His1097Arg) | single nucleotide variant | not specified [RCV004607065] | Chr4:122230178 [GRCh38] Chr4:123151333 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13124T>C (p.Ile4375Thr) | single nucleotide variant | not specified [RCV004607066] | Chr4:122346749 [GRCh38] Chr4:123267904 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.776T>G (p.Val259Gly) | single nucleotide variant | not specified [RCV004607067] | Chr4:122188043 [GRCh38] Chr4:123109198 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12349G>T (p.Val4117Leu) | single nucleotide variant | not specified [RCV004607068] | Chr4:122336955 [GRCh38] Chr4:123258110 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3631G>A (p.Val1211Ile) | single nucleotide variant | not specified [RCV004600420] | Chr4:122238148 [GRCh38] Chr4:123159303 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5313A>G (p.Arg1771=) | single nucleotide variant | not specified [RCV004600421] | Chr4:122247158 [GRCh38] Chr4:123168313 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.12053C>T (p.Ser4018Phe) | single nucleotide variant | not specified [RCV004600433] | Chr4:122334486 [GRCh38] Chr4:123255641 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2414T>G (p.Leu805Trp) | single nucleotide variant | not provided [RCV004696716] | Chr4:122219506 [GRCh38] Chr4:123140661 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13660G>A (p.Val4554Ile) | single nucleotide variant | not specified [RCV004600432] | Chr4:122349273 [GRCh38] Chr4:123270428 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.4423G>C (p.Val1475Leu) | single nucleotide variant | not specified [RCV004600436] | Chr4:122240105 [GRCh38] Chr4:123161260 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.8728A>G (p.Ser2910Gly) | single nucleotide variant | not specified [RCV004600439] | Chr4:122279911 [GRCh38] Chr4:123201066 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.3031A>G (p.Thr1011Ala) | single nucleotide variant | not specified [RCV004600423] | Chr4:122229229 [GRCh38] Chr4:123150384 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13624G>C (p.Gly4542Arg) | single nucleotide variant | not specified [RCV004600434] | Chr4:122349237 [GRCh38] Chr4:123270392 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.14254A>G (p.Thr4752Ala) | single nucleotide variant | not specified [RCV004600440] | Chr4:122353044 [GRCh38] Chr4:123274199 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.13039C>T (p.Arg4347Cys) | single nucleotide variant | not specified [RCV004600441] | Chr4:122346664 [GRCh38] Chr4:123267819 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11584A>C (p.Thr3862Pro) | single nucleotide variant | not provided [RCV004696717] | Chr4:122331396 [GRCh38] Chr4:123252551 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12590C>G (p.Thr4197Ser) | single nucleotide variant | not specified [RCV004600437] | Chr4:122339382 [GRCh38] Chr4:123260537 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5969T>C (p.Met1990Thr) | single nucleotide variant | not provided [RCV004770690] | Chr4:122254241 [GRCh38] Chr4:123175396 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.702T>C (p.Tyr234=) | single nucleotide variant | not provided [RCV004810129] | Chr4:122187969 [GRCh38] Chr4:123109124 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.2019T>G (p.Asp673Glu) | single nucleotide variant | not provided [RCV004774028] | Chr4:122209905 [GRCh38] Chr4:123131060 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.5633T>C (p.Val1878Ala) | single nucleotide variant | BLTP1-related disorder [RCV004754143] | Chr4:122249605 [GRCh38] Chr4:123170760 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.2129G>A (p.Arg710His) | single nucleotide variant | not provided [RCV004762892] | uncertain significance | |
NM_001384125.1(BLTP1):c.4733C>A (p.Ser1578Ter) | single nucleotide variant | not provided [RCV004762893] | likely pathogenic | |
NM_001384125.1(BLTP1):c.1997C>A (p.Pro666Gln) | single nucleotide variant | not provided [RCV004722646] | Chr4:122209883 [GRCh38] Chr4:123131038 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.11016G>A (p.Lys3672=) | single nucleotide variant | BLTP1-related disorder [RCV004731817] | Chr4:122324447 [GRCh38] Chr4:123245602 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.7317+5G>A | single nucleotide variant | BLTP1-related disorder [RCV004753785] | Chr4:122264432 [GRCh38] Chr4:123185587 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.261A>G (p.Glu87=) | single nucleotide variant | BLTP1-related disorder [RCV004753937] | Chr4:122174620 [GRCh38] Chr4:123095775 [GRCh37] Chr4:4q27 |
likely benign |
NM_001384125.1(BLTP1):c.1925A>G (p.Gln642Arg) | single nucleotide variant | not provided [RCV004774027] | Chr4:122209331 [GRCh38] Chr4:123130486 [GRCh37] Chr4:4q27 |
uncertain significance |
NM_001384125.1(BLTP1):c.12553T>A (p.Ser4185Thr) | single nucleotide variant | not provided [RCV004722410] | Chr4:122339345 [GRCh38] Chr4:123260500 [GRCh37] Chr4:4q27 |
uncertain significance |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D4S3100 |
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RH122843 |
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D4S2477E |
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D4S2628 |
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SHGC-67953 |
|
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SHGC-50429 |
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G54558 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2250 | 4972 | 1726 | 2351 | 5 | 623 | 1950 | 465 | 2270 | 7301 | 6468 | 53 | 3732 | 1 | 852 | 1743 | 1616 | 175 | 1 |
RefSeq Transcripts | NG_015813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001384125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_015312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005263282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005263287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006714344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532330 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024454243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351017 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054351024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001741335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001741336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001741337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008487046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_938781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_938782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_938783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB029032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB037792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC022489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC104658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC127089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK024043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK095216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK124902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK127686 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK127698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK129931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225886 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK303483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL137254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL137384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL137532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL833461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC018094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC032408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC045783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC108274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA413044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR936613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ335469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HF584005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF457817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000264501 ⟹ ENSP00000264501 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000306802 ⟹ ENSP00000304374 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000388738 ⟹ ENSP00000373390 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000419325 ⟹ ENSP00000393219 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000421930 ⟹ ENSP00000408229 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000424425 ⟹ ENSP00000398039 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000438707 ⟹ ENSP00000410874 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000442707 ⟹ ENSP00000397543 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000446180 ⟹ ENSP00000394909 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000449251 ⟹ ENSP00000413018 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000470182 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000480651 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000482114 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000483357 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000491933 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000495260 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679879 ⟹ ENSP00000505357 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000684873 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000684987 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000685587 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000685604 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000686040 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000686075 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000686093 ⟹ ENSP00000509672 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000686836 ⟹ ENSP00000510157 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000686950 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000687387 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000687476 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000688248 ⟹ ENSP00000508472 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000688322 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000688368 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000688823 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000688874 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000688884 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000689316 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000690050 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000690272 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000690536 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000691302 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000693334 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000693357 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000693420 ⟹ ENSP00000509435 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001384125 ⟹ NP_001371054 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_015312 ⟹ NP_056127 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005263282 ⟹ XP_005263339 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005263287 ⟹ XP_005263344 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006714344 ⟹ XP_006714407 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532320 ⟹ XP_011530622 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532322 ⟹ XP_011530624 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532323 ⟹ XP_011530625 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532324 ⟹ XP_011530626 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532325 ⟹ XP_011530627 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532326 ⟹ XP_011530628 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532330 ⟹ XP_011530632 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017008695 ⟹ XP_016864184 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017008697 ⟹ XP_016864186 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017008698 ⟹ XP_016864187 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017008699 ⟹ XP_016864188 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |