AL133297.2 (novel transcript, antisense to IFT140) - Rat Genome Database

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Gene: AL133297.2 (novel transcript, antisense to IFT140) Homo sapiens
Analyze
Symbol: AL133297.2
Name: novel transcript, antisense to IFT140
RGD ID: 16563036
Description: ASSOCIATED WITH asphyxiating thoracic dystrophy; fundus dystrophy; genetic disease
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC105371046; uncharacterized LOC105371046
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,580,527 - 1,610,328 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,580,527 - 1,610,328 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,630,528 - 1,660,329 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map16p13.3NCBI
CHM1_1161,630,471 - 1,660,270 (+)NCBICHM1_1
T2T-CHM13v2.0161,595,559 - 1,626,175 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Genomics

Variants

.
Variants in AL133297.2
543 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV001367739]|Saldino-Mainzer syndrome [RCV002488140] Chr16:1586255 [GRCh38]
Chr16:1636256 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NC_000016.10:g.1602592del deletion Saldino-Mainzer syndrome [RCV002746624] Chr16:1602588 [GRCh38]
Chr16:1652589 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) single nucleotide variant Saldino-Mainzer syndrome [RCV001785239]|Saldino-Mainzer syndrome [RCV002503275] Chr16:1586246 [GRCh38]
Chr16:1636247 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.187C>T (p.Arg63Trp) single nucleotide variant Inborn genetic diseases [RCV003257529]|Retinal dystrophy [RCV003889291] Chr16:1602552 [GRCh38]
Chr16:1652553 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.625C>G (p.Leu209Val) single nucleotide variant Inborn genetic diseases [RCV003304462] Chr16:1592185 [GRCh38]
Chr16:1642186 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.901A>G (p.Arg301Gly) single nucleotide variant Inborn genetic diseases [RCV003287334] Chr16:1587934 [GRCh38]
Chr16:1637935 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs) insertion Retinitis pigmentosa 80 [RCV001542781] Chr16:1583323..1583324 [GRCh38]
Chr16:1633324..1633325 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.634+182G>A single nucleotide variant not provided [RCV001662891] Chr16:1591994 [GRCh38]
Chr16:1641995 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV001907592] Chr16:1589778 [GRCh38]
Chr16:1639779 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.635-1G>C single nucleotide variant Retinitis pigmentosa 80 [RCV001591792] Chr16:1589781 [GRCh38]
Chr16:1639782 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV000626468] Chr16:1584257 [GRCh38]
Chr16:1634258 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.836G>A (p.Arg279His) single nucleotide variant Retinal dystrophy [RCV003890219]|Saldino-Mainzer syndrome [RCV001066839] Chr16:1587999 [GRCh38]
Chr16:1638000 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.497T>C (p.Leu166Pro) single nucleotide variant not provided [RCV000296371] Chr16:1592313 [GRCh38]
Chr16:1642314 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) single nucleotide variant Inborn genetic diseases [RCV002520986]|Retinal dystrophy [RCV003888745]|Saldino-Mainzer syndrome [RCV000307488] Chr16:1589643 [GRCh38]
Chr16:1639644 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV001118408] Chr16:1583344 [GRCh38]
Chr16:1633345 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) single nucleotide variant Retinal dystrophy [RCV003890262]|Saldino-Mainzer syndrome [RCV001118410]|Saldino-Mainzer syndrome [RCV002497529] Chr16:1584267 [GRCh38]
Chr16:1634268 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV001048430] Chr16:1602551 [GRCh38]
Chr16:1652552 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001049823] Chr16:1584356 [GRCh38]
Chr16:1634357 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.-17G>C single nucleotide variant Retinitis pigmentosa 80 [RCV001544249]|Saldino-Mainzer syndrome [RCV000390809]|not specified [RCV000604950] Chr16:1607283 [GRCh38]
Chr16:1657284 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV001121927]|Saldino-Mainzer syndrome [RCV002497531] Chr16:1587985 [GRCh38]
Chr16:1637986 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.657G>A (p.Glu219=) single nucleotide variant Saldino-Mainzer syndrome [RCV000358955] Chr16:1589758 [GRCh38]
Chr16:1639759 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del deletion Saldino-Mainzer syndrome [RCV000626467] Chr16:1607119..1607267 [GRCh38]
Chr16:1657120..1657268 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) single nucleotide variant Inborn genetic diseases [RCV003243074]|Saldino-Mainzer syndrome [RCV000405837]|Saldino-Mainzer syndrome [RCV002494998] Chr16:1589637 [GRCh38]
Chr16:1639638 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.183G>A (p.Pro61=) single nucleotide variant Retinal dystrophy [RCV003890039]|Saldino-Mainzer syndrome [RCV001425623] Chr16:1602556 [GRCh38]
Chr16:1652557 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1010-1G>A single nucleotide variant Jeune thoracic dystrophy [RCV000516131]|Retinitis pigmentosa 80 [RCV001376438]|Retinitis pigmentosa [RCV003155145]|Saldino-Mainzer syndrome [RCV001055096]|Saldino-Mainzer syndrome [RCV002503978]|not provided [RCV000326779] Chr16:1586276 [GRCh38]
Chr16:1636277 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln) single nucleotide variant Inborn genetic diseases [RCV002532296]|Saldino-Mainzer syndrome [RCV000695393] Chr16:1583322 [GRCh38]
Chr16:1633323 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001035635]|Saldino-Mainzer syndrome [RCV002481851] Chr16:1588012 [GRCh38]
Chr16:1638013 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.36G>A (p.Pro12=) single nucleotide variant Saldino-Mainzer syndrome [RCV000352234] Chr16:1607231 [GRCh38]
Chr16:1657232 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) single nucleotide variant Retinal dystrophy [RCV001075810]|Saldino-Mainzer syndrome [RCV001054270]|Saldino-Mainzer syndrome [RCV002497416] Chr16:1580796 [GRCh38]
Chr16:1630797 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV001241947] Chr16:1602499 [GRCh38]
Chr16:1652500 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV001226705] Chr16:1586229 [GRCh38]
Chr16:1636230 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) single nucleotide variant Retinal dystrophy [RCV003887959]|Saldino-Mainzer syndrome [RCV001243338]|not provided [RCV001773548] Chr16:1587952 [GRCh38]
Chr16:1637953 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) single nucleotide variant Saldino-Mainzer syndrome [RCV001004892] Chr16:1602435 [GRCh38]
Chr16:1652436 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg) single nucleotide variant Inborn genetic diseases [RCV003346408]|Saldino-Mainzer syndrome [RCV001242792]|not provided [RCV001751483] Chr16:1583318 [GRCh38]
Chr16:1633319 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.217_218del (p.Arg73fs) microsatellite Retinal dystrophy [RCV001073385]|Saldino-Mainzer syndrome [RCV002554659] Chr16:1602521..1602522 [GRCh38]
Chr16:1652522..1652523 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001233834]|Saldino-Mainzer syndrome [RCV002491753] Chr16:1583341 [GRCh38]
Chr16:1633342 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1390G>T (p.Val464Leu) single nucleotide variant Retinal dystrophy [RCV001075334] Chr16:1583356 [GRCh38]
Chr16:1633357 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_014714.4(IFT140):c.1156-6A>G single nucleotide variant Saldino-Mainzer syndrome [RCV001221110] Chr16:1584426 [GRCh38]
Chr16:1634427 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) single nucleotide variant Saldino-Mainzer syndrome [RCV001221113]|Saldino-Mainzer syndrome [RCV002497752] Chr16:1602499 [GRCh38]
Chr16:1652500 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.41C>T (p.Ala14Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001052942] Chr16:1607226 [GRCh38]
Chr16:1657227 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) single nucleotide variant Retinal dystrophy [RCV001075808]|Saldino-Mainzer syndrome [RCV001301368] Chr16:1607211 [GRCh38]
Chr16:1657212 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.903-1G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002535022]|not provided [RCV000722196] Chr16:1587305 [GRCh38]
Chr16:1637306 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV000626461] Chr16:1592504 [GRCh38]
Chr16:1642505 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.874G>A (p.Val292Met) single nucleotide variant Jeune thoracic dystrophy [RCV000515922]|Saldino-Mainzer syndrome [RCV000083297]|Saldino-Mainzer syndrome [RCV000626469] Chr16:1587961 [GRCh38]
Chr16:1637962 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.329G>A (p.Arg110His) single nucleotide variant Saldino-Mainzer syndrome [RCV001210181]|Saldino-Mainzer syndrome [RCV002480693] Chr16:1602410 [GRCh38]
Chr16:1652411 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000378953] Chr16:1587201 [GRCh38]
Chr16:1637202 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1020C>T (p.Ala340=) single nucleotide variant Saldino-Mainzer syndrome [RCV000981540] Chr16:1586265 [GRCh38]
Chr16:1636266 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.546C>T (p.Asp182=) single nucleotide variant IFT140-related condition [RCV003957643]|Saldino-Mainzer syndrome [RCV000324026]|not provided [RCV001171690] Chr16:1592264 [GRCh38]
Chr16:1642265 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.322G>A (p.Val108Met) single nucleotide variant Saldino-Mainzer syndrome [RCV000550836]|not provided [RCV003392383]|not specified [RCV000595068] Chr16:1602417 [GRCh38]
Chr16:1652418 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001235846] Chr16:1586150 [GRCh38]
Chr16:1636151 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.810+6T>C single nucleotide variant Saldino-Mainzer syndrome [RCV001242323] Chr16:1589599 [GRCh38]
Chr16:1639600 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) single nucleotide variant Saldino-Mainzer syndrome [RCV001197586] Chr16:1592252 [GRCh38]
Chr16:1642253 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.989T>C (p.Val330Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV001236178] Chr16:1587218 [GRCh38]
Chr16:1637219 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1524+3A>G single nucleotide variant Saldino-Mainzer syndrome [RCV000945426]|not specified [RCV000616331] Chr16:1580756 [GRCh38]
Chr16:1630757 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) single nucleotide variant IFT140-related condition [RCV003953241]|Saldino-Mainzer syndrome [RCV000697881] Chr16:1592477 [GRCh38]
Chr16:1642478 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV001118411]|Saldino-Mainzer syndrome [RCV002491368] Chr16:1584270 [GRCh38]
Chr16:1634271 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.625C>A (p.Leu209Met) single nucleotide variant Inborn genetic diseases [RCV003272152] Chr16:1592185 [GRCh38]
Chr16:1642186 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.811-10C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000528584]|Saldino-Mainzer syndrome [RCV002491017] Chr16:1588034 [GRCh38]
Chr16:1638035 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV000407423]|not provided [RCV001706506] Chr16:1587997 [GRCh38]
Chr16:1637998 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.359C>T (p.Ser120Phe) single nucleotide variant not provided [RCV000995464] Chr16:1602380 [GRCh38]
Chr16:1652381 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) single nucleotide variant Jeune thoracic dystrophy [RCV000515934]|Nephronophthisis [RCV001328311]|Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene [RCV000626465]|Saldino-Mainzer syndrome [RCV000024363]|Saldino-Mainzer syndrome [RCV001249674]|not provided [RCV000255441] Chr16:1592176 [GRCh38]
Chr16:1642177 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_014714.4(IFT140):c.1524+14C>G single nucleotide variant Saldino-Mainzer syndrome [RCV001115253]|Saldino-Mainzer syndrome [RCV002505691] Chr16:1580745 [GRCh38]
Chr16:1630746 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV001115344]|Saldino-Mainzer syndrome [RCV002482213] Chr16:1589687 [GRCh38]
Chr16:1639688 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) single nucleotide variant Inborn genetic diseases [RCV003165857]|Saldino-Mainzer syndrome [RCV000281495]|Saldino-Mainzer syndrome [RCV002487403] Chr16:1587968 [GRCh38]
Chr16:1637969 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) single nucleotide variant Retinal dystrophy [RCV003888510]|Saldino-Mainzer syndrome [RCV000385144]|not provided [RCV001610410]|not specified [RCV000117256] Chr16:1584384 [GRCh38]
Chr16:1634385 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV000641163] Chr16:1607139 [GRCh38]
Chr16:1657140 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.857_860del (p.Ile286fs) microsatellite Saldino-Mainzer syndrome [RCV000024362] Chr16:1587975..1587978 [GRCh38]
Chr16:1637976..1637979 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) single nucleotide variant IFT140-related condition [RCV003902618]|Saldino-Mainzer syndrome [RCV001861628]|Saldino-Mainzer syndrome [RCV002506076]|not provided [RCV000421972]|not specified [RCV003155180] Chr16:1592572 [GRCh38]
Chr16:1642573 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.491+7G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000260708] Chr16:1592460 [GRCh38]
Chr16:1642461 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.635-12G>C single nucleotide variant Saldino-Mainzer syndrome [RCV000266564]|not specified [RCV000609932] Chr16:1589792 [GRCh38]
Chr16:1639793 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1380del (p.Asn460fs) deletion Saldino-Mainzer syndrome [RCV001854453]|Saldino-Mainzer syndrome [RCV002498438]|Short-rib thoracic dysplasia without polydactyly [RCV000083299] Chr16:1583366 [GRCh38]
Chr16:1633367 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.867C>T (p.Ser289=) single nucleotide variant Saldino-Mainzer syndrome [RCV000373603] Chr16:1587968 [GRCh38]
Chr16:1637969 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV001856885]|not provided [RCV000487511]|not specified [RCV001584198] Chr16:1592486 [GRCh38]
Chr16:1642487 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.1380C>T (p.Asn460=) single nucleotide variant Saldino-Mainzer syndrome [RCV001118409] Chr16:1583366 [GRCh38]
Chr16:1633367 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1010-10C>T single nucleotide variant IFT140-related condition [RCV003906224]|Saldino-Mainzer syndrome [RCV001119942] Chr16:1586285 [GRCh38]
Chr16:1636286 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1359+1G>A single nucleotide variant Retinal dystrophy [RCV001073817]|Saldino-Mainzer syndrome [RCV003645883] Chr16:1584216 [GRCh38]
Chr16:1634217 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.634+5G>A single nucleotide variant Retinal dystrophy [RCV001073818]|Retinitis pigmentosa 80 [RCV001376446]|Saldino-Mainzer syndrome [RCV001237370] Chr16:1592171 [GRCh38]
Chr16:1642172 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000288057] Chr16:1602585 [GRCh38]
Chr16:1652586 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) single nucleotide variant Retinal dystrophy [RCV003888744]|Saldino-Mainzer syndrome [RCV000322045]|Saldino-Mainzer syndrome [RCV002504087] Chr16:1586202 [GRCh38]
Chr16:1636203 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000346557]|Saldino-Mainzer syndrome [RCV002495000] Chr16:1602441 [GRCh38]
Chr16:1652442 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.985T>C (p.Cys329Arg) single nucleotide variant Retinitis pigmentosa 80 [RCV000515582] Chr16:1587222 [GRCh38]
Chr16:1637223 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.902+3G>A single nucleotide variant Saldino-Mainzer syndrome [RCV001201635] Chr16:1587930 [GRCh38]
Chr16:1637931 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.89T>C (p.Leu30Ser) single nucleotide variant Retinitis pigmentosa 80 [RCV001591790] Chr16:1607178 [GRCh38]
Chr16:1657179 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.148-221G>A single nucleotide variant not provided [RCV001692578] Chr16:1602812 [GRCh38]
Chr16:1652813 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.147+85_147+86del deletion not provided [RCV001636291] Chr16:1607034..1607035 [GRCh38]
Chr16:1657035..1657036 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.-31-52T>A single nucleotide variant Retinitis pigmentosa 80 [RCV001544264]|Saldino-Mainzer syndrome [RCV001544265]|not provided [RCV001597303] Chr16:1607349 [GRCh38]
Chr16:1657350 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1155+223C>T single nucleotide variant not provided [RCV001708219] Chr16:1585907 [GRCh38]
Chr16:1635908 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.369+12C>T single nucleotide variant Saldino-Mainzer syndrome [RCV001118497] Chr16:1602358 [GRCh38]
Chr16:1652359 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1327G>A (p.Asp443Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV001235678] Chr16:1584249 [GRCh38]
Chr16:1634250 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001244491]|Saldino-Mainzer syndrome [RCV002480827] Chr16:1589642 [GRCh38]
Chr16:1639643 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) single nucleotide variant Retinal dystrophy [RCV001073481]|Saldino-Mainzer syndrome [RCV003645882] Chr16:1587287 [GRCh38]
Chr16:1637288 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.-24C>G single nucleotide variant Saldino-Mainzer syndrome [RCV001120328] Chr16:1607290 [GRCh38]
Chr16:1657291 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) single nucleotide variant Retinitis pigmentosa [RCV000504730]|Saldino-Mainzer syndrome [RCV001002703] Chr16:1587209 [GRCh38]
Chr16:1637210 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV000313052]|not provided [RCV001573082]|not specified [RCV000117261] Chr16:1587999 [GRCh38]
Chr16:1638000 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014714.4(IFT140):c.370-3_370-1delinsAA indel Saldino-Mainzer syndrome [RCV001244818] Chr16:1592589..1592591 [GRCh38]
Chr16:1642590..1642592 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.634+6G>C single nucleotide variant Saldino-Mainzer syndrome [RCV001223012]|not specified [RCV003235502] Chr16:1592170 [GRCh38]
Chr16:1642171 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) single nucleotide variant Inborn genetic diseases [RCV002563107]|Saldino-Mainzer syndrome [RCV001227146] Chr16:1587986 [GRCh38]
Chr16:1637987 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV001233904] Chr16:1602495 [GRCh38]
Chr16:1652496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001227362]|Saldino-Mainzer syndrome [RCV002491720] Chr16:1602482 [GRCh38]
Chr16:1652483 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV001237193]|Saldino-Mainzer syndrome [RCV002484297] Chr16:1589732 [GRCh38]
Chr16:1639733 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001056151] Chr16:1602521 [GRCh38]
Chr16:1652522 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV001064831]|Saldino-Mainzer syndrome [RCV002489688] Chr16:1602411 [GRCh38]
Chr16:1652412 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.423G>A (p.Thr141=) single nucleotide variant Saldino-Mainzer syndrome [RCV002066230] Chr16:1592535 [GRCh38]
Chr16:1642536 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.903-5T>G single nucleotide variant Retinitis pigmentosa 80 [RCV001376491]|Saldino-Mainzer syndrome [RCV001121926]|Saldino-Mainzer syndrome [RCV002476059]|not provided [RCV000520573] Chr16:1587309 [GRCh38]
Chr16:1637310 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) single nucleotide variant Retinal dystrophy [RCV003889923]|Saldino-Mainzer syndrome [RCV002060323] Chr16:1584376 [GRCh38]
Chr16:1634377 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.492-14G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000371763]|not provided [RCV001613021] Chr16:1592332 [GRCh38]
Chr16:1642333 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) single nucleotide variant Retinal dystrophy [RCV003888743]|Saldino-Mainzer syndrome [RCV000328247] Chr16:1584346 [GRCh38]
Chr16:1634347 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1155+15G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000283384] Chr16:1586115 [GRCh38]
Chr16:1636116 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV001243980]|Saldino-Mainzer syndrome [RCV002504351] Chr16:1584357 [GRCh38]
Chr16:1634358 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) single nucleotide variant Saldino-Mainzer syndrome [RCV001118407] Chr16:1580831 [GRCh38]
Chr16:1630832 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001218204] Chr16:1586152 [GRCh38]
Chr16:1636153 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001238433] Chr16:1592186 [GRCh38]
Chr16:1642187 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.148-22A>T single nucleotide variant Retinitis pigmentosa 80 [RCV001544245]|Saldino-Mainzer syndrome [RCV001544246]|not provided [RCV001655862] Chr16:1602613 [GRCh38]
Chr16:1652614 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.811-135A>G single nucleotide variant not provided [RCV001638240] Chr16:1588159 [GRCh38]
Chr16:1638160 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1009+58G>A single nucleotide variant not provided [RCV001716074] Chr16:1587140 [GRCh38]
Chr16:1637141 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.147+192T>C single nucleotide variant not provided [RCV001620569] Chr16:1606928 [GRCh38]
Chr16:1656929 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) single nucleotide variant Retinal dystrophy [RCV001073365]|Saldino-Mainzer syndrome [RCV000407664]|Saldino-Mainzer syndrome [RCV002502238] Chr16:1607245 [GRCh38]
Chr16:1657246 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1524+8G>A single nucleotide variant Saldino-Mainzer syndrome [RCV001471956]|Saldino-Mainzer syndrome [RCV002495495] Chr16:1580751 [GRCh38]
Chr16:1630752 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 copy number gain See cases [RCV000052375] Chr16:1278821..1919148 [GRCh38]
Chr16:1328822..1969149 [GRCh37]
Chr16:1268823..1909150 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) single nucleotide variant Retinal dystrophy [RCV003890159]|Retinitis pigmentosa [RCV001003053]|Saldino-Mainzer syndrome [RCV001862723] Chr16:1580838 [GRCh38]
Chr16:1630839 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) single nucleotide variant IFT140-related condition [RCV003391152]|Saldino-Mainzer syndrome [RCV000291707]|not provided [RCV000983904] Chr16:1592548 [GRCh38]
Chr16:1642549 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) single nucleotide variant Inborn genetic diseases [RCV002553199]|Saldino-Mainzer syndrome [RCV001049333]|Saldino-Mainzer syndrome [RCV002479303] Chr16:1583329 [GRCh38]
Chr16:1633330 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.811-7C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000919125] Chr16:1588031 [GRCh38]
Chr16:1638032 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV000338674]|not provided [RCV001706505] Chr16:1587996 [GRCh38]
Chr16:1637997 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.387G>A (p.Leu129=) single nucleotide variant Saldino-Mainzer syndrome [RCV000923838] Chr16:1592571 [GRCh38]
Chr16:1642572 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.459G>T (p.Thr153=) single nucleotide variant Saldino-Mainzer syndrome [RCV000318280]|not provided [RCV001706507] Chr16:1592499 [GRCh38]
Chr16:1642500 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.768G>A (p.Leu256=) single nucleotide variant Saldino-Mainzer syndrome [RCV002495483]|Saldino-Mainzer syndrome [RCV002540754] Chr16:1589647 [GRCh38]
Chr16:1639648 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.157G>A (p.Val53Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001038336]|not provided [RCV000734474] Chr16:1602582 [GRCh38]
Chr16:1652583 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV000516117]|Saldino-Mainzer syndrome [RCV001035060] Chr16:1607197 [GRCh38]
Chr16:1657198 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) single nucleotide variant Inborn genetic diseases [RCV002522825]|Saldino-Mainzer syndrome [RCV000301773]|Saldino-Mainzer syndrome [RCV002494999] Chr16:1589730 [GRCh38]
Chr16:1639731 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV001115254]|Saldino-Mainzer syndrome [RCV002491363] Chr16:1580803 [GRCh38]
Chr16:1630804 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.-6T>A single nucleotide variant Saldino-Mainzer syndrome [RCV000348752] Chr16:1607272 [GRCh38]
Chr16:1657273 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.148-73C>T single nucleotide variant not provided [RCV001693923] Chr16:1602664 [GRCh38]
Chr16:1652665 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.635-183C>T single nucleotide variant not provided [RCV001611612] Chr16:1589963 [GRCh38]
Chr16:1639964 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.997T>C (p.Cys333Arg) single nucleotide variant Retinitis pigmentosa 80 [RCV001591789] Chr16:1587210 [GRCh38]
Chr16:1637211 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.147+109G>A single nucleotide variant Retinitis pigmentosa 80 [RCV001544247]|Saldino-Mainzer syndrome [RCV001544248]|not provided [RCV001647402] Chr16:1607011 [GRCh38]
Chr16:1657012 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.370-71A>G single nucleotide variant not provided [RCV001709058] Chr16:1592659 [GRCh38]
Chr16:1642660 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.634+199G>A single nucleotide variant not provided [RCV001696690] Chr16:1591977 [GRCh38]
Chr16:1641978 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.635-79T>A single nucleotide variant not provided [RCV001612715] Chr16:1589859 [GRCh38]
Chr16:1639860 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1156-183A>T single nucleotide variant not provided [RCV001710060] Chr16:1584603 [GRCh38]
Chr16:1634604 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.147+185G>A single nucleotide variant not provided [RCV001685333] Chr16:1606935 [GRCh38]
Chr16:1656936 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) single nucleotide variant Saldino-Mainzer syndrome [RCV000375284]|not provided [RCV001171691] Chr16:1592536 [GRCh38]
Chr16:1642537 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) single nucleotide variant Inborn genetic diseases [RCV002522824]|Retinal dystrophy [RCV001073363]|Saldino-Mainzer syndrome [RCV000335405] Chr16:1587282 [GRCh38]
Chr16:1637283 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.-4C>T single nucleotide variant Saldino-Mainzer syndrome [RCV000312617]|not specified [RCV001820941] Chr16:1607270 [GRCh38]
Chr16:1657271 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys) single nucleotide variant Inborn genetic diseases [RCV002561700]|Saldino-Mainzer syndrome [RCV001208942] Chr16:1586159 [GRCh38]
Chr16:1636160 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) single nucleotide variant Retinal dystrophy [RCV003890268]|Saldino-Mainzer syndrome [RCV001119941] Chr16:1584321 [GRCh38]
Chr16:1634322 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000287362] Chr16:1587270 [GRCh38]
Chr16:1637271 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV000382462] Chr16:1602558 [GRCh38]
Chr16:1652559 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV000272226] Chr16:1589661 [GRCh38]
Chr16:1639662 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) single nucleotide variant Saldino-Mainzer syndrome [RCV000362991]|not provided [RCV001712031] Chr16:1584224 [GRCh38]
Chr16:1634225 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.1422A>G (p.Ile474Met) single nucleotide variant Saldino-Mainzer syndrome [RCV002068705] Chr16:1583324 [GRCh38]
Chr16:1633325 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) single nucleotide variant IFT140-related condition [RCV003411642]|Retinitis pigmentosa [RCV001724143]|Saldino-Mainzer syndrome [RCV000704469]|Saldino-Mainzer syndrome [RCV001535954] Chr16:1583369 [GRCh38]
Chr16:1633370 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001036895] Chr16:1580763 [GRCh38]
Chr16:1630764 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.194C>T (p.Ala65Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001039318] Chr16:1602545 [GRCh38]
Chr16:1652546 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV001212615] Chr16:1586141 [GRCh38]
Chr16:1636142 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1360-14G>A single nucleotide variant Saldino-Mainzer syndrome [RCV000334018] Chr16:1583400 [GRCh38]
Chr16:1633401 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) single nucleotide variant Retinal dystrophy [RCV001075497]|Saldino-Mainzer syndrome [RCV003645884]|not provided [RCV003883548] Chr16:1592549 [GRCh38]
Chr16:1642550 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV001040804]|Saldino-Mainzer syndrome [RCV002481882] Chr16:1607260 [GRCh38]
Chr16:1657261 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) microsatellite Retinal dystrophy [RCV003887936]|Retinitis pigmentosa 80 [RCV001587264]|Saldino-Mainzer syndrome [RCV001234869] Chr16:1589613..1589615 [GRCh38]
Chr16:1639614..1639616 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV001048179]|Saldino-Mainzer syndrome [RCV002489600] Chr16:1583377 [GRCh38]
Chr16:1633378 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.810+9G>T single nucleotide variant Saldino-Mainzer syndrome [RCV000351541] Chr16:1589596 [GRCh38]
Chr16:1639597 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.148-2A>G single nucleotide variant Saldino-Mainzer syndrome [RCV001237006] Chr16:1602593 [GRCh38]
Chr16:1652594 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV001234086]|Saldino-Mainzer syndrome [RCV002480764] Chr16:1592302 [GRCh38]
Chr16:1642303 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.645C>G (p.His215Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001234680] Chr16:1589770 [GRCh38]
Chr16:1639771 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001245765]|Saldino-Mainzer syndrome [RCV002484368] Chr16:1580843 [GRCh38]
Chr16:1630844 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001213432] Chr16:1584305 [GRCh38]
Chr16:1634306 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) single nucleotide variant Saldino-Mainzer syndrome [RCV001228961]|Saldino-Mainzer syndrome [RCV002504304] Chr16:1584254 [GRCh38]
Chr16:1634255 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1167del (p.Lys390fs) deletion Saldino-Mainzer syndrome [RCV000490349] Chr16:1584409 [GRCh38]
Chr16:1634410 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) single nucleotide variant Retinitis pigmentosa 80 [RCV001542782]|Saldino-Mainzer syndrome [RCV001064708]|Saldino-Mainzer syndrome [RCV002479380] Chr16:1586264 [GRCh38]
Chr16:1636265 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV001067089] Chr16:1592217 [GRCh38]
Chr16:1642218 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.557G>A (p.Trp186Ter) single nucleotide variant not provided [RCV000723159] Chr16:1592253 [GRCh38]
Chr16:1642254 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) single nucleotide variant Saldino-Mainzer syndrome [RCV002059120]|not provided [RCV000360218] Chr16:1584304 [GRCh38]
Chr16:1634305 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV001246616] Chr16:1584237 [GRCh38]
Chr16:1634238 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV000878469] Chr16:1586201 [GRCh38]
Chr16:1636202 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) single nucleotide variant Retinal dystrophy [RCV001073305]|Retinitis pigmentosa 80 [RCV000515606]|Retinitis pigmentosa [RCV002282196]|Saldino-Mainzer syndrome [RCV001857877]|Saldino-Mainzer syndrome [RCV002490876]|not provided [RCV003326447] Chr16:1580832 [GRCh38]
Chr16:1630833 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.635-11T>G single nucleotide variant Retinal dystrophy [RCV001073484] Chr16:1589791 [GRCh38]
Chr16:1639792 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) single nucleotide variant IFT140-related condition [RCV003955022]|Saldino-Mainzer syndrome [RCV000270811]|not provided [RCV001723747]|not specified [RCV000174127] Chr16:1584240 [GRCh38]
Chr16:1634241 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) single nucleotide variant IFT140-related condition [RCV003930070]|Saldino-Mainzer syndrome [RCV000364470]|not provided [RCV001795480]|not specified [RCV000378415] Chr16:1589657 [GRCh38]
Chr16:1639658 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) single nucleotide variant Retinal dystrophy [RCV001074233]|Saldino-Mainzer syndrome [RCV001366836] Chr16:1584324 [GRCh38]
Chr16:1634325 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_014714.4(IFT140):c.1250_1271dup (p.Ser425fs) duplication Retinal dystrophy [RCV001075809] Chr16:1584304..1584305 [GRCh38]
Chr16:1634305..1634306 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV000024361] Chr16:1587275 [GRCh38]
Chr16:1637276 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001348198] Chr16:1592240 [GRCh38]
Chr16:1642241 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1215C>T (p.Ser405=) single nucleotide variant Saldino-Mainzer syndrome [RCV001908210] Chr16:1584361 [GRCh38]
Chr16:1634362 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) single nucleotide variant Retinitis pigmentosa 80 [RCV002250740]|Saldino-Mainzer syndrome [RCV001379861]|not provided [RCV001268555]|not specified [RCV001586101] Chr16:1602527 [GRCh38]
Chr16:1652528 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001315861]|Saldino-Mainzer syndrome [RCV002486238]|not provided [RCV001773631] Chr16:1586245 [GRCh38]
Chr16:1636246 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV001307618] Chr16:1586182 [GRCh38]
Chr16:1636183 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001325632] Chr16:1586170 [GRCh38]
Chr16:1636171 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001319348] Chr16:1586140 [GRCh38]
Chr16:1636141 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1330A>G (p.Met444Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001300874] Chr16:1584246 [GRCh38]
Chr16:1634247 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV001298994] Chr16:1592256 [GRCh38]
Chr16:1642257 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV001350831] Chr16:1607154 [GRCh38]
Chr16:1657155 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.628A>G (p.Met210Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001340204] Chr16:1592182 [GRCh38]
Chr16:1642183 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV001340246] Chr16:1602488 [GRCh38]
Chr16:1652489 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1406T>A (p.Leu469His) single nucleotide variant Saldino-Mainzer syndrome [RCV001321286] Chr16:1583340 [GRCh38]
Chr16:1633341 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV001351465] Chr16:1588003 [GRCh38]
Chr16:1638004 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1432+18G>A single nucleotide variant Saldino-Mainzer syndrome [RCV001320833] Chr16:1583296 [GRCh38]
Chr16:1633297 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV001325096]|Saldino-Mainzer syndrome [RCV002499637] Chr16:1586236 [GRCh38]
Chr16:1636237 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.886G>T (p.Gly296Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV001353344] Chr16:1587949 [GRCh38]
Chr16:1637950 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001314926] Chr16:1584407 [GRCh38]
Chr16:1634408 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) single nucleotide variant Retinal dystrophy [RCV003888004]|Saldino-Mainzer syndrome [RCV001303056] Chr16:1602524 [GRCh38]
Chr16:1652525 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.849C>T (p.Ile283=) single nucleotide variant Saldino-Mainzer syndrome [RCV001392682]|not provided [RCV003389869] Chr16:1587986 [GRCh38]
Chr16:1637987 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.633C>T (p.Asp211=) single nucleotide variant Saldino-Mainzer syndrome [RCV001348662] Chr16:1592177 [GRCh38]
Chr16:1642178 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001294882]|Saldino-Mainzer syndrome [RCV002493549] Chr16:1607232 [GRCh38]
Chr16:1657233 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1479C>T (p.Asn493=) single nucleotide variant Saldino-Mainzer syndrome [RCV001397579] Chr16:1580804 [GRCh38]
Chr16:1630805 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV001340494]|Saldino-Mainzer syndrome [RCV002504533]|not provided [RCV001773680] Chr16:1602560 [GRCh38]
Chr16:1652561 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV001326344] Chr16:1589663 [GRCh38]
Chr16:1639664 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV001344891]|Saldino-Mainzer syndrome [RCV002486401] Chr16:1592249 [GRCh38]
Chr16:1642250 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) single nucleotide variant Saldino-Mainzer syndrome [RCV001281144]|not provided [RCV001751516] Chr16:1587232 [GRCh38]
Chr16:1637233 [GRCh37]
Chr16:16p13.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014714.4(IFT140):c.1524+17C>G single nucleotide variant Saldino-Mainzer syndrome [RCV001320377] Chr16:1580742 [GRCh38]
Chr16:1630743 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001325633] Chr16:1592243 [GRCh38]
Chr16:1642244 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001368820] Chr16:1587954 [GRCh38]
Chr16:1637955 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu) single nucleotide variant Saldino-Mainzer syndrome [RCV001361667] Chr16:1580850 [GRCh38]
Chr16:1630851 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.695C>T (p.Thr232Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001323493] Chr16:1589720 [GRCh38]
Chr16:1639721 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001344538] Chr16:1586164 [GRCh38]
Chr16:1636165 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu) single nucleotide variant Saldino-Mainzer syndrome [RCV001345595] Chr16:1584272 [GRCh38]
Chr16:1634273 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.601G>A (p.Glu201Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV001368541] Chr16:1592209 [GRCh38]
Chr16:1642210 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) single nucleotide variant Inborn genetic diseases [RCV003166759]|Saldino-Mainzer syndrome [RCV001308476]|Saldino-Mainzer syndrome [RCV002499589] Chr16:1602402 [GRCh38]
Chr16:1652403 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg) single nucleotide variant Retinal dystrophy [RCV003888019]|Saldino-Mainzer syndrome [RCV001318389] Chr16:1587949 [GRCh38]
Chr16:1637950 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) single nucleotide variant Inborn genetic diseases [RCV002548635]|Saldino-Mainzer syndrome [RCV001370061]|Saldino-Mainzer syndrome [RCV002504617] Chr16:1583382 [GRCh38]
Chr16:1633383 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001367177] Chr16:1592285 [GRCh38]
Chr16:1642286 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys) single nucleotide variant Retinal dystrophy [RCV003888068]|Saldino-Mainzer syndrome [RCV001367192] Chr16:1602380 [GRCh38]
Chr16:1652381 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1359+9C>T single nucleotide variant Saldino-Mainzer syndrome [RCV001413756] Chr16:1584208 [GRCh38]
Chr16:1634209 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1359+12G>C single nucleotide variant Saldino-Mainzer syndrome [RCV001513782]|Saldino-Mainzer syndrome [RCV002476816] Chr16:1584205 [GRCh38]
Chr16:1634206 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.352C>T (p.Leu118=) single nucleotide variant Saldino-Mainzer syndrome [RCV001492382] Chr16:1602387 [GRCh38]
Chr16:1652388 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.822C>T (p.Ser274=) single nucleotide variant Retinal dystrophy [RCV003888184]|Saldino-Mainzer syndrome [RCV001467225] Chr16:1588013 [GRCh38]
Chr16:1638014 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1029C>T (p.Thr343=) single nucleotide variant Saldino-Mainzer syndrome [RCV001496243] Chr16:1586256 [GRCh38]
Chr16:1636257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1326C>T (p.Thr442=) single nucleotide variant Saldino-Mainzer syndrome [RCV001462838] Chr16:1584250 [GRCh38]
Chr16:1634251 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.951G>A (p.Glu317=) single nucleotide variant Saldino-Mainzer syndrome [RCV001434399] Chr16:1587256 [GRCh38]
Chr16:1637257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.882C>T (p.Ala294=) single nucleotide variant Saldino-Mainzer syndrome [RCV001460939] Chr16:1587953 [GRCh38]
Chr16:1637954 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1296G>A (p.Leu432=) single nucleotide variant Saldino-Mainzer syndrome [RCV001505264] Chr16:1584280 [GRCh38]
Chr16:1634281 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.684C>T (p.Ser228=) single nucleotide variant Saldino-Mainzer syndrome [RCV001409471] Chr16:1589731 [GRCh38]
Chr16:1639732 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) single nucleotide variant Saldino-Mainzer syndrome [RCV001443847]|Saldino-Mainzer syndrome [RCV002488251] Chr16:1583321 [GRCh38]
Chr16:1633322 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.174C>T (p.Val58=) single nucleotide variant Saldino-Mainzer syndrome [RCV001437318]|not provided [RCV003389873] Chr16:1602565 [GRCh38]
Chr16:1652566 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.441G>A (p.Glu147=) single nucleotide variant Saldino-Mainzer syndrome [RCV001437376] Chr16:1592517 [GRCh38]
Chr16:1642518 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.900C>T (p.Leu300=) single nucleotide variant Saldino-Mainzer syndrome [RCV001437442] Chr16:1587935 [GRCh38]
Chr16:1637936 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.600C>T (p.His200=) single nucleotide variant Saldino-Mainzer syndrome [RCV001393603] Chr16:1592210 [GRCh38]
Chr16:1642211 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1509A>G (p.Gln503=) single nucleotide variant Saldino-Mainzer syndrome [RCV001393542] Chr16:1580774 [GRCh38]
Chr16:1630775 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.459G>A (p.Thr153=) single nucleotide variant Saldino-Mainzer syndrome [RCV001440528] Chr16:1592499 [GRCh38]
Chr16:1642500 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.482dup (p.Pro162fs) duplication Retinitis pigmentosa 80 [RCV002551562]|Saldino-Mainzer syndrome [RCV001387808] Chr16:1592475..1592476 [GRCh38]
Chr16:1642476..1642477 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.148-8C>A single nucleotide variant Saldino-Mainzer syndrome [RCV001448213] Chr16:1602599 [GRCh38]
Chr16:1652600 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.201G>T (p.Leu67=) single nucleotide variant Saldino-Mainzer syndrome [RCV001419822] Chr16:1602538 [GRCh38]
Chr16:1652539 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.312C>T (p.Ala104=) single nucleotide variant Saldino-Mainzer syndrome [RCV001411699]|Saldino-Mainzer syndrome [RCV002499882] Chr16:1602427 [GRCh38]
Chr16:1652428 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.148-29T>C single nucleotide variant not provided [RCV001681323] Chr16:1602620 [GRCh38]
Chr16:1652621 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.126C>T (p.Ser42=) single nucleotide variant Saldino-Mainzer syndrome [RCV001477347] Chr16:1607141 [GRCh38]
Chr16:1657142 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.210C>T (p.His70=) single nucleotide variant Saldino-Mainzer syndrome [RCV001460036] Chr16:1602529 [GRCh38]
Chr16:1652530 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1155+8C>T single nucleotide variant Saldino-Mainzer syndrome [RCV001501335] Chr16:1586122 [GRCh38]
Chr16:1636123 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.491+45G>A single nucleotide variant not provided [RCV001619108] Chr16:1592422 [GRCh38]
Chr16:1642423 [GRCh37]
Chr16:16p13.3		 benign
NM_014714.4(IFT140):c.1294C>T (p.Leu432=) single nucleotide variant Saldino-Mainzer syndrome [RCV001454014] Chr16:1584282 [GRCh38]
Chr16:1634283 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.492-20C>T single nucleotide variant Saldino-Mainzer syndrome [RCV001510495]|Saldino-Mainzer syndrome [RCV002501753] Chr16:1592338 [GRCh38]
Chr16:1642339 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.1125C>T (p.Thr375=) single nucleotide variant Saldino-Mainzer syndrome [RCV001465846] Chr16:1586160 [GRCh38]
Chr16:1636161 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1156-8A>C single nucleotide variant Saldino-Mainzer syndrome [RCV001477601] Chr16:1584428 [GRCh38]
Chr16:1634429 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.609G>A (p.Leu203=) single nucleotide variant Saldino-Mainzer syndrome [RCV001429464] Chr16:1592201 [GRCh38]
Chr16:1642202 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.975G>A (p.Glu325=) single nucleotide variant Saldino-Mainzer syndrome [RCV001467830] Chr16:1587232 [GRCh38]
Chr16:1637233 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1428T>C (p.Ser476=) single nucleotide variant Saldino-Mainzer syndrome [RCV001499047]|Saldino-Mainzer syndrome [RCV002495756] Chr16:1583318 [GRCh38]
Chr16:1633319 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter) single nucleotide variant IFT140-related condition [RCV003405632]|Saldino-Mainzer syndrome [RCV001383877] Chr16:1580782 [GRCh38]
Chr16:1630783 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1251G>A (p.Val417=) single nucleotide variant Saldino-Mainzer syndrome [RCV001398580] Chr16:1584325 [GRCh38]
Chr16:1634326 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.54del (p.Ser19fs) deletion Saldino-Mainzer syndrome [RCV001386540] Chr16:1607213 [GRCh38]
Chr16:1657214 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.248G>A (p.Gly83Glu) single nucleotide variant not specified [RCV002238637] Chr16:1602491 [GRCh38]
Chr16:1652492 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV002238727] Chr16:1586233 [GRCh38]
Chr16:1636234 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.629T>C (p.Met210Thr) single nucleotide variant Inborn genetic diseases [RCV003252481] Chr16:1592181 [GRCh38]
Chr16:1642182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV001868635]|not provided [RCV001773112] Chr16:1584255 [GRCh38]
Chr16:1634256 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.910G>C (p.Asp304His) single nucleotide variant not provided [RCV001771269] Chr16:1587297 [GRCh38]
Chr16:1637298 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.238T>A (p.Trp80Arg) single nucleotide variant not provided [RCV001771604] Chr16:1602501 [GRCh38]
Chr16:1652502 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.489C>T (p.Gly163=) single nucleotide variant Saldino-Mainzer syndrome [RCV001779414]|Saldino-Mainzer syndrome [RCV002506819] Chr16:1592469 [GRCh38]
Chr16:1642470 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) single nucleotide variant Inborn genetic diseases [RCV003339787]|Saldino-Mainzer syndrome [RCV001912199]|Saldino-Mainzer syndrome [RCV002482609] Chr16:1602411 [GRCh38]
Chr16:1652412 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV001988286] Chr16:1589777 [GRCh38]
Chr16:1639778 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV002025579] Chr16:1592468 [GRCh38]
Chr16:1642469 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1359_1359+3delinsAC indel Saldino-Mainzer syndrome [RCV002503266]|not provided [RCV001783468] Chr16:1584214..1584217 [GRCh38]
Chr16:1634215..1634218 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.146_147+2del deletion Saldino-Mainzer syndrome [RCV001970594] Chr16:1607118..1607121 [GRCh38]
Chr16:1657119..1657122 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV001874939] Chr16:1592226 [GRCh38]
Chr16:1642227 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV002025796] Chr16:1592223 [GRCh38]
Chr16:1642224 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.127G>A (p.Val43Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001971448]|Saldino-Mainzer syndrome [RCV002492208] Chr16:1607140 [GRCh38]
Chr16:1657141 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1469A>G (p.His490Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001864026] Chr16:1580814 [GRCh38]
Chr16:1630815 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV002009118] Chr16:1607157 [GRCh38]
Chr16:1657158 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1302G>A (p.Thr434=) single nucleotide variant IFT140-related condition [RCV003893056]|Saldino-Mainzer syndrome [RCV001986576] Chr16:1584274 [GRCh38]
Chr16:1634275 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) single nucleotide variant IFT140-related condition [RCV003913466]|Saldino-Mainzer syndrome [RCV002007187] Chr16:1592468 [GRCh38]
Chr16:1642469 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.488G>T (p.Gly163Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001909456] Chr16:1592470 [GRCh38]
Chr16:1642471 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.72C>A (p.His24Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001911378] Chr16:1607195 [GRCh38]
Chr16:1657196 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV001964383]|Saldino-Mainzer syndrome [RCV002484861] Chr16:1584245 [GRCh38]
Chr16:1634246 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1432+8C>A single nucleotide variant Saldino-Mainzer syndrome [RCV001914259] Chr16:1583306 [GRCh38]
Chr16:1633307 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.283C>T (p.Gln95Ter) single nucleotide variant not provided [RCV001782291] Chr16:1602456 [GRCh38]
Chr16:1652457 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.150G>T (p.Gly50=) single nucleotide variant Saldino-Mainzer syndrome [RCV001914341] Chr16:1602589 [GRCh38]
Chr16:1652590 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr) single nucleotide variant Inborn genetic diseases [RCV002642190]|Saldino-Mainzer syndrome [RCV002020369] Chr16:1602584 [GRCh38]
Chr16:1652585 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.147+6T>C single nucleotide variant Saldino-Mainzer syndrome [RCV001913652] Chr16:1607114 [GRCh38]
Chr16:1657115 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) single nucleotide variant IFT140-related condition [RCV003416523]|Saldino-Mainzer syndrome [RCV001907936] Chr16:1586138 [GRCh38]
Chr16:1636139 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001966620] Chr16:1592476 [GRCh38]
Chr16:1642477 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV002044128] Chr16:1592560 [GRCh38]
Chr16:1642561 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.482C>A (p.Pro161His) single nucleotide variant Saldino-Mainzer syndrome [RCV001909274]|Saldino-Mainzer syndrome [RCV002490239] Chr16:1592476 [GRCh38]
Chr16:1642477 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) single nucleotide variant Saldino-Mainzer syndrome [RCV001871054]|Saldino-Mainzer syndrome [RCV002490089] Chr16:1584416 [GRCh38]
Chr16:1634417 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV001926563] Chr16:1602522 [GRCh38]
Chr16:1652523 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu) single nucleotide variant Saldino-Mainzer syndrome [RCV001947617] Chr16:1586189 [GRCh38]
Chr16:1636190 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.182C>T (p.Pro61Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001968610] Chr16:1602557 [GRCh38]
Chr16:1652558 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV001983464] Chr16:1607194 [GRCh38]
Chr16:1657195 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV002038579]|Saldino-Mainzer syndrome [RCV002507824] Chr16:1592477 [GRCh38]
Chr16:1642478 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1334A>G (p.His445Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001942400] Chr16:1584242 [GRCh38]
Chr16:1634243 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV001981015]|Saldino-Mainzer syndrome [RCV002507764] Chr16:1580779 [GRCh38]
Chr16:1630780 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.208C>T (p.His70Tyr) single nucleotide variant Saldino-Mainzer syndrome [RCV002000513] Chr16:1602531 [GRCh38]
Chr16:1652532 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV001998122] Chr16:1583323 [GRCh38]
Chr16:1633324 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser) single nucleotide variant Retinal dystrophy [RCV003888358]|Saldino-Mainzer syndrome [RCV001962095] Chr16:1592284 [GRCh38]
Chr16:1642285 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp) single nucleotide variant Saldino-Mainzer syndrome [RCV002029054] Chr16:1602496 [GRCh38]
Chr16:1652497 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.740T>C (p.Val247Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV002037511] Chr16:1589675 [GRCh38]
Chr16:1639676 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.94G>A (p.Val32Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV001900329] Chr16:1607173 [GRCh38]
Chr16:1657174 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV001900641]|Saldino-Mainzer syndrome [RCV002490080] Chr16:1583317 [GRCh38]
Chr16:1633318 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV002030738] Chr16:1586195 [GRCh38]
Chr16:1636196 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1310C>T (p.Ala437Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001930199] Chr16:1584266 [GRCh38]
Chr16:1634267 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.774G>A (p.Thr258=) single nucleotide variant Saldino-Mainzer syndrome [RCV001876729] Chr16:1589641 [GRCh38]
Chr16:1639642 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu) single nucleotide variant Saldino-Mainzer syndrome [RCV001952272] Chr16:1589684 [GRCh38]
Chr16:1639685 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp) single nucleotide variant Saldino-Mainzer syndrome [RCV001995376] Chr16:1580800 [GRCh38]
Chr16:1630801 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) single nucleotide variant Saldino-Mainzer syndrome [RCV001917649] Chr16:1587280 [GRCh38]
Chr16:1637281 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.877A>T (p.Met293Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV001955493] Chr16:1587958 [GRCh38]
Chr16:1637959 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV001936847] Chr16:1580793 [GRCh38]
Chr16:1630794 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1359G>A (p.Lys453=) single nucleotide variant Saldino-Mainzer syndrome [RCV001880388] Chr16:1584217 [GRCh38]
Chr16:1634218 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.316A>G (p.Ile106Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001877596] Chr16:1602423 [GRCh38]
Chr16:1652424 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.811-18G>A single nucleotide variant Saldino-Mainzer syndrome [RCV001938536] Chr16:1588042 [GRCh38]
Chr16:1638043 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg) single nucleotide variant Inborn genetic diseases [RCV002545392]|Saldino-Mainzer syndrome [RCV002051158] Chr16:1583365 [GRCh38]
Chr16:1633366 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV002035743] Chr16:1586161 [GRCh38]
Chr16:1636162 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV001930172] Chr16:1583385 [GRCh38]
Chr16:1633386 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1465A>G (p.Met489Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001867638] Chr16:1580818 [GRCh38]
Chr16:1630819 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV001956999] Chr16:1584316 [GRCh38]
Chr16:1634317 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu) single nucleotide variant Saldino-Mainzer syndrome [RCV002009606] Chr16:1602424 [GRCh38]
Chr16:1652425 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV002048657]|Saldino-Mainzer syndrome [RCV002486725] Chr16:1583370 [GRCh38]
Chr16:1633371 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV001878107] Chr16:1584360 [GRCh38]
Chr16:1634361 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV001886076] Chr16:1592250 [GRCh38]
Chr16:1642251 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV001991931] Chr16:1592552 [GRCh38]
Chr16:1642553 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV001936644] Chr16:1592281 [GRCh38]
Chr16:1642282 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp) single nucleotide variant Saldino-Mainzer syndrome [RCV002033443] Chr16:1602562 [GRCh38]
Chr16:1652563 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val) single nucleotide variant Saldino-Mainzer syndrome [RCV001923120] Chr16:1583328 [GRCh38]
Chr16:1633329 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) single nucleotide variant Saldino-Mainzer syndrome [RCV001975158]|not provided [RCV003312029] Chr16:1580770 [GRCh38]
Chr16:1630771 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV001878038] Chr16:1589778 [GRCh38]
Chr16:1639779 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1242C>G (p.His414Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV001939137] Chr16:1584334 [GRCh38]
Chr16:1634335 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.370-12G>A single nucleotide variant Saldino-Mainzer syndrome [RCV001940757] Chr16:1592600 [GRCh38]
Chr16:1642601 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV001925765] Chr16:1592477 [GRCh38]
Chr16:1642478 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV002036700] Chr16:1602459 [GRCh38]
Chr16:1652460 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.775G>A (p.Val259Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001981516] Chr16:1589640 [GRCh38]
Chr16:1639641 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) single nucleotide variant Saldino-Mainzer syndrome [RCV001951871] Chr16:1587288 [GRCh38]
Chr16:1637289 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) single nucleotide variant Saldino-Mainzer syndrome [RCV001915789]|Saldino-Mainzer syndrome [RCV002478343] Chr16:1584275 [GRCh38]
Chr16:1634276 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV001864982] Chr16:1607198 [GRCh38]
Chr16:1657199 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.369+4A>G single nucleotide variant Saldino-Mainzer syndrome [RCV002010062] Chr16:1602366 [GRCh38]
Chr16:1652367 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) single nucleotide variant Inborn genetic diseases [RCV003170334]|Saldino-Mainzer syndrome [RCV001976858] Chr16:1602579 [GRCh38]
Chr16:1652580 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV002032270] Chr16:1607149 [GRCh38]
Chr16:1657150 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.903-17G>T single nucleotide variant Saldino-Mainzer syndrome [RCV002091852]|Saldino-Mainzer syndrome [RCV002486925] Chr16:1587321 [GRCh38]
Chr16:1637322 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.438C>T (p.His146=) single nucleotide variant Saldino-Mainzer syndrome [RCV002073914] Chr16:1592520 [GRCh38]
Chr16:1642521 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.811-11dup duplication Saldino-Mainzer syndrome [RCV002192134] Chr16:1588034..1588035 [GRCh38]
Chr16:1638035..1638036 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.621C>T (p.Val207=) single nucleotide variant Saldino-Mainzer syndrome [RCV002108761] Chr16:1592189 [GRCh38]
Chr16:1642190 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.635-20G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002124421] Chr16:1589800 [GRCh38]
Chr16:1639801 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1359+10G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002075073] Chr16:1584207 [GRCh38]
Chr16:1634208 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.525C>T (p.Ser175=) single nucleotide variant Saldino-Mainzer syndrome [RCV002126070] Chr16:1592285 [GRCh38]
Chr16:1642286 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1338C>T (p.Ile446=) single nucleotide variant Saldino-Mainzer syndrome [RCV002169163] Chr16:1584238 [GRCh38]
Chr16:1634239 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.189G>A (p.Arg63=) single nucleotide variant Saldino-Mainzer syndrome [RCV002071307]|Saldino-Mainzer syndrome [RCV002493994] Chr16:1602550 [GRCh38]
Chr16:1652551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1146G>A (p.Thr382=) single nucleotide variant Saldino-Mainzer syndrome [RCV002085013]|Saldino-Mainzer syndrome [RCV002498098] Chr16:1586139 [GRCh38]
Chr16:1636140 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.708G>A (p.Leu236=) single nucleotide variant Saldino-Mainzer syndrome [RCV002188673] Chr16:1589707 [GRCh38]
Chr16:1639708 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.642G>A (p.Val214=) single nucleotide variant Saldino-Mainzer syndrome [RCV002089729] Chr16:1589773 [GRCh38]
Chr16:1639774 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1359+15G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002085747] Chr16:1584202 [GRCh38]
Chr16:1634203 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.678G>C (p.Val226=) single nucleotide variant Saldino-Mainzer syndrome [RCV002096302] Chr16:1589737 [GRCh38]
Chr16:1639738 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.474G>T (p.Arg158=) single nucleotide variant Saldino-Mainzer syndrome [RCV002097557] Chr16:1592484 [GRCh38]
Chr16:1642485 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.474G>C (p.Arg158=) single nucleotide variant Saldino-Mainzer syndrome [RCV002107884]|Saldino-Mainzer syndrome [RCV002499982] Chr16:1592484 [GRCh38]
Chr16:1642485 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.903-13T>G single nucleotide variant Saldino-Mainzer syndrome [RCV002117303] Chr16:1587317 [GRCh38]
Chr16:1637318 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1433-8C>A single nucleotide variant Saldino-Mainzer syndrome [RCV002116938] Chr16:1580858 [GRCh38]
Chr16:1630859 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.156C>T (p.Cys52=) single nucleotide variant Saldino-Mainzer syndrome [RCV002194892] Chr16:1602583 [GRCh38]
Chr16:1652584 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.321C>T (p.Thr107=) single nucleotide variant Saldino-Mainzer syndrome [RCV002134272] Chr16:1602418 [GRCh38]
Chr16:1652419 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.811-19C>T single nucleotide variant Saldino-Mainzer syndrome [RCV002113935]|Saldino-Mainzer syndrome [RCV002500163] Chr16:1588043 [GRCh38]
Chr16:1638044 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1009+19G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002134913] Chr16:1587179 [GRCh38]
Chr16:1637180 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.369+14C>T single nucleotide variant Saldino-Mainzer syndrome [RCV002095400] Chr16:1602356 [GRCh38]
Chr16:1652357 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.370-20G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002192821] Chr16:1592608 [GRCh38]
Chr16:1642609 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1072C>T (p.Leu358=) single nucleotide variant Saldino-Mainzer syndrome [RCV002173633] Chr16:1586213 [GRCh38]
Chr16:1636214 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.370-20G>C single nucleotide variant Saldino-Mainzer syndrome [RCV002211522]|Saldino-Mainzer syndrome [RCV002494105] Chr16:1592608 [GRCh38]
Chr16:1642609 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1155+18G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002094213] Chr16:1586112 [GRCh38]
Chr16:1636113 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1077C>T (p.Gly359=) single nucleotide variant Saldino-Mainzer syndrome [RCV002093063] Chr16:1586208 [GRCh38]
Chr16:1636209 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1009+11C>T single nucleotide variant Saldino-Mainzer syndrome [RCV002094897] Chr16:1587187 [GRCh38]
Chr16:1637188 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1359+20G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002116696]|Saldino-Mainzer syndrome [RCV002500200] Chr16:1584197 [GRCh38]
Chr16:1634198 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.594G>A (p.Gly198=) single nucleotide variant Saldino-Mainzer syndrome [RCV002171125]|Saldino-Mainzer syndrome [RCV002500099] Chr16:1592216 [GRCh38]
Chr16:1642217 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_014714.4(IFT140):c.696G>A (p.Thr232=) single nucleotide variant Saldino-Mainzer syndrome [RCV002117463] Chr16:1589719 [GRCh38]
Chr16:1639720 [GRCh37]
Chr16:1579721 [NCBI36]
Chr16:16p13.3		 likely benign|not provided
NM_014714.4(IFT140):c.885C>T (p.Val295=) single nucleotide variant Saldino-Mainzer syndrome [RCV002140939] Chr16:1587950 [GRCh38]
Chr16:1637951 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.903-9C>T single nucleotide variant Saldino-Mainzer syndrome [RCV002156347] Chr16:1587313 [GRCh38]
Chr16:1637314 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.258G>A (p.Thr86=) single nucleotide variant Saldino-Mainzer syndrome [RCV002100708]|Saldino-Mainzer syndrome [RCV002486867] Chr16:1602481 [GRCh38]
Chr16:1652482 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.634+12T>C single nucleotide variant Saldino-Mainzer syndrome [RCV002155188] Chr16:1592164 [GRCh38]
Chr16:1642165 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.819G>A (p.Leu273=) single nucleotide variant Saldino-Mainzer syndrome [RCV002118886] Chr16:1588016 [GRCh38]
Chr16:1638017 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.357G>C (p.Leu119=) single nucleotide variant Saldino-Mainzer syndrome [RCV002177506] Chr16:1602382 [GRCh38]
Chr16:1652383 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.178A>C (p.Arg60=) single nucleotide variant Saldino-Mainzer syndrome [RCV002083564] Chr16:1602561 [GRCh38]
Chr16:1652562 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.171C>T (p.His57=) single nucleotide variant Saldino-Mainzer syndrome [RCV002154623] Chr16:1602568 [GRCh38]
Chr16:1652569 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1368C>T (p.Val456=) single nucleotide variant Retinal dystrophy [RCV003889055]|Saldino-Mainzer syndrome [RCV002162594] Chr16:1583378 [GRCh38]
Chr16:1633379 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1010-19A>G single nucleotide variant Saldino-Mainzer syndrome [RCV002216407] Chr16:1586294 [GRCh38]
Chr16:1636295 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.148-16_148-15delinsGC indel Saldino-Mainzer syndrome [RCV002121258]|Saldino-Mainzer syndrome [RCV002494400] Chr16:1602606..1602607 [GRCh38]
Chr16:1652607..1652608 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1104G>A (p.Arg368=) single nucleotide variant Saldino-Mainzer syndrome [RCV002182416] Chr16:1586181 [GRCh38]
Chr16:1636182 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1433-15C>T single nucleotide variant Saldino-Mainzer syndrome [RCV002101922]|Saldino-Mainzer syndrome [RCV002494360] Chr16:1580865 [GRCh38]
Chr16:1630866 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.291G>A (p.Thr97=) single nucleotide variant Saldino-Mainzer syndrome [RCV002217242]|Saldino-Mainzer syndrome [RCV002498252] Chr16:1602448 [GRCh38]
Chr16:1652449 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1401C>T (p.Phe467=) single nucleotide variant Saldino-Mainzer syndrome [RCV002102954]|Saldino-Mainzer syndrome [RCV002494190] Chr16:1583345 [GRCh38]
Chr16:1633346 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1359+17C>T single nucleotide variant Saldino-Mainzer syndrome [RCV002101940]|Saldino-Mainzer syndrome [RCV002486928] Chr16:1584200 [GRCh38]
Chr16:1634201 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.635-12G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002136116] Chr16:1589792 [GRCh38]
Chr16:1639793 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.369+13G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002157035] Chr16:1602357 [GRCh38]
Chr16:1652358 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.811-16T>C single nucleotide variant Saldino-Mainzer syndrome [RCV002184090] Chr16:1588040 [GRCh38]
Chr16:1638041 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1156-18T>C single nucleotide variant Saldino-Mainzer syndrome [RCV002155264] Chr16:1584438 [GRCh38]
Chr16:1634439 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1365T>C (p.Ala455=) single nucleotide variant Saldino-Mainzer syndrome [RCV002099434] Chr16:1583381 [GRCh38]
Chr16:1633382 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV003114777] Chr16:1580763 [GRCh38]
Chr16:1630764 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.76G>C (p.Val26Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV003121602] Chr16:1607191 [GRCh38]
Chr16:1657192 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.334A>C (p.Ser112Arg) single nucleotide variant not provided [RCV002274733] Chr16:1602405 [GRCh38]
Chr16:1652406 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV002296971] Chr16:1607242 [GRCh38]
Chr16:1657243 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) single nucleotide variant Saldino-Mainzer syndrome [RCV003096037]|not specified [RCV002266462] Chr16:1607230 [GRCh38]
Chr16:1657231 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.571T>G (p.Ser191Ala) single nucleotide variant not specified [RCV002266463] Chr16:1592239 [GRCh38]
Chr16:1642240 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV002297751] Chr16:1583319 [GRCh38]
Chr16:1633320 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter) single nucleotide variant Retinitis pigmentosa 80 [RCV003152928] Chr16:1584330 [GRCh38]
Chr16:1634331 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV002303481] Chr16:1580764 [GRCh38]
Chr16:1630765 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1141A>G (p.Ile381Val) single nucleotide variant Myoepithelial tumor [RCV002463913] Chr16:1586144 [GRCh38]
Chr16:1636145 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1155+1G>A single nucleotide variant Retinitis pigmentosa [RCV002308671] Chr16:1586129 [GRCh38]
Chr16:1636130 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val) single nucleotide variant Saldino-Mainzer syndrome [RCV002295144] Chr16:1586248 [GRCh38]
Chr16:1636249 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1201G>A (p.Val401Met) single nucleotide variant Inborn genetic diseases [RCV002902409] Chr16:1584375 [GRCh38]
Chr16:1634376 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr) single nucleotide variant Saldino-Mainzer syndrome [RCV003033402] Chr16:1584308 [GRCh38]
Chr16:1634309 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV002971778] Chr16:1602444 [GRCh38]
Chr16:1652445 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.945A>G (p.Pro315=) single nucleotide variant Saldino-Mainzer syndrome [RCV003076455] Chr16:1587262 [GRCh38]
Chr16:1637263 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del) deletion Saldino-Mainzer syndrome [RCV002613637] Chr16:1607210..1607221 [GRCh38]
Chr16:1657211..1657222 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.810+7G>A single nucleotide variant Saldino-Mainzer syndrome [RCV003074618] Chr16:1589598 [GRCh38]
Chr16:1639599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1433-11T>G single nucleotide variant Saldino-Mainzer syndrome [RCV002971547] Chr16:1580861 [GRCh38]
Chr16:1630862 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV002819318] Chr16:1587293 [GRCh38]
Chr16:1637294 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1134A>G (p.Gln378=) single nucleotide variant Saldino-Mainzer syndrome [RCV002863424] Chr16:1586151 [GRCh38]
Chr16:1636152 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.148-14C>G single nucleotide variant Saldino-Mainzer syndrome [RCV002618649] Chr16:1602605 [GRCh38]
Chr16:1652606 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln) single nucleotide variant Retinal dystrophy [RCV003889219]|Saldino-Mainzer syndrome [RCV003074094] Chr16:1580769 [GRCh38]
Chr16:1630770 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1491G>A (p.Val497=) single nucleotide variant Saldino-Mainzer syndrome [RCV002862335] Chr16:1580792 [GRCh38]
Chr16:1630793 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.844G>C (p.Asp282His) single nucleotide variant Saldino-Mainzer syndrome [RCV003034588] Chr16:1587991 [GRCh38]
Chr16:1637992 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys) single nucleotide variant Saldino-Mainzer syndrome [RCV003017181] Chr16:1607161 [GRCh38]
Chr16:1657162 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.261G>A (p.Val87=) single nucleotide variant Saldino-Mainzer syndrome [RCV002623068] Chr16:1602478 [GRCh38]
Chr16:1652479 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1221G>A (p.Arg407=) single nucleotide variant Saldino-Mainzer syndrome [RCV003021895] Chr16:1584355 [GRCh38]
Chr16:1634356 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1524+16A>G single nucleotide variant Saldino-Mainzer syndrome [RCV003081363] Chr16:1580743 [GRCh38]
Chr16:1630744 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV002889877] Chr16:1584333 [GRCh38]
Chr16:1634334 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val) single nucleotide variant Inborn genetic diseases [RCV002914108]|Saldino-Mainzer syndrome [RCV002914107] Chr16:1583352 [GRCh38]
Chr16:1633353 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.172G>A (p.Val58Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV003081396] Chr16:1602567 [GRCh38]
Chr16:1652568 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV002889641] Chr16:1587210 [GRCh38]
Chr16:1637211 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.681G>A (p.Val227=) single nucleotide variant Saldino-Mainzer syndrome [RCV002847569] Chr16:1589734 [GRCh38]
Chr16:1639735 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.676G>T (p.Val226Leu) single nucleotide variant Retinal dystrophy [RCV003889227]|Saldino-Mainzer syndrome [RCV003081434] Chr16:1589739 [GRCh38]
Chr16:1639740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.255G>A (p.Val85=) single nucleotide variant Saldino-Mainzer syndrome [RCV002572030] Chr16:1602484 [GRCh38]
Chr16:1652485 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.251A>T (p.Glu84Val) single nucleotide variant Saldino-Mainzer syndrome [RCV002928003] Chr16:1602488 [GRCh38]
Chr16:1652489 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.147+2T>G single nucleotide variant Saldino-Mainzer syndrome [RCV002847247] Chr16:1607118 [GRCh38]
Chr16:1657119 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.1299C>T (p.Ser433=) single nucleotide variant Saldino-Mainzer syndrome [RCV002795288] Chr16:1584277 [GRCh38]
Chr16:1634278 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.454C>G (p.Leu152Val) single nucleotide variant Saldino-Mainzer syndrome [RCV002948590] Chr16:1592504 [GRCh38]
Chr16:1642505 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV002886328] Chr16:1592485 [GRCh38]
Chr16:1642486 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV003019742] Chr16:1587234 [GRCh38]
Chr16:1637235 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV002847234] Chr16:1580797 [GRCh38]
Chr16:1630798 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.169del (p.His57fs) deletion Saldino-Mainzer syndrome [RCV002866735] Chr16:1602570 [GRCh38]
Chr16:1652571 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV002706634] Chr16:1602414 [GRCh38]
Chr16:1652415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1359+13G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002662610] Chr16:1584204 [GRCh38]
Chr16:1634205 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.583C>A (p.Leu195Met) single nucleotide variant Saldino-Mainzer syndrome [RCV003038762] Chr16:1592227 [GRCh38]
Chr16:1642228 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1009+1G>T single nucleotide variant IFT140-related condition [RCV003409908]|Saldino-Mainzer syndrome [RCV002695487] Chr16:1587197 [GRCh38]
Chr16:1637198 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del) microsatellite Saldino-Mainzer syndrome [RCV002761559] Chr16:1592196..1592198 [GRCh38]
Chr16:1642197..1642199 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1404G>A (p.Glu468=) single nucleotide variant Saldino-Mainzer syndrome [RCV002622647] Chr16:1583342 [GRCh38]
Chr16:1633343 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV002948791] Chr16:1584389 [GRCh38]
Chr16:1634390 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV002824282] Chr16:1587940 [GRCh38]
Chr16:1637941 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV002800072] Chr16:1602437 [GRCh38]
Chr16:1652438 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV002659629] Chr16:1607253 [GRCh38]
Chr16:1657254 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.491+11G>T single nucleotide variant Saldino-Mainzer syndrome [RCV003054716] Chr16:1592456 [GRCh38]
Chr16:1642457 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter) single nucleotide variant Saldino-Mainzer syndrome [RCV002760937] Chr16:1587946 [GRCh38]
Chr16:1637947 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.345A>G (p.Gly115=) single nucleotide variant Saldino-Mainzer syndrome [RCV002847243] Chr16:1602394 [GRCh38]
Chr16:1652395 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1010-15T>G single nucleotide variant Saldino-Mainzer syndrome [RCV003001864] Chr16:1586290 [GRCh38]
Chr16:1636291 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.864C>T (p.Gly288=) single nucleotide variant Saldino-Mainzer syndrome [RCV002766759] Chr16:1587971 [GRCh38]
Chr16:1637972 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.505T>C (p.Leu169=) single nucleotide variant Saldino-Mainzer syndrome [RCV002851021] Chr16:1592305 [GRCh38]
Chr16:1642306 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.9C>G (p.Leu3=) single nucleotide variant Saldino-Mainzer syndrome [RCV002829237] Chr16:1607258 [GRCh38]
Chr16:1657259 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.94G>T (p.Val32Phe) single nucleotide variant Saldino-Mainzer syndrome [RCV002700110] Chr16:1607173 [GRCh38]
Chr16:1657174 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.492-19G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002917498] Chr16:1592337 [GRCh38]
Chr16:1642338 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV002574630] Chr16:1580781 [GRCh38]
Chr16:1630782 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1177C>T (p.Leu393=) single nucleotide variant Saldino-Mainzer syndrome [RCV002573152] Chr16:1584399 [GRCh38]
Chr16:1634400 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.492-15C>G single nucleotide variant Saldino-Mainzer syndrome [RCV002741820] Chr16:1592333 [GRCh38]
Chr16:1642334 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1035A>G (p.Arg345=) single nucleotide variant Saldino-Mainzer syndrome [RCV002928999] Chr16:1586250 [GRCh38]
Chr16:1636251 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp) single nucleotide variant IFT140-related condition [RCV003898605]|Saldino-Mainzer syndrome [RCV002919144] Chr16:1580785 [GRCh38]
Chr16:1630786 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.810G>A (p.Lys270=) single nucleotide variant Saldino-Mainzer syndrome [RCV003083252] Chr16:1589605 [GRCh38]
Chr16:1639606 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.724A>C (p.Arg242=) single nucleotide variant Saldino-Mainzer syndrome [RCV002853045] Chr16:1589691 [GRCh38]
Chr16:1639692 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1245G>T (p.Gln415His) single nucleotide variant Inborn genetic diseases [RCV002916939] Chr16:1584331 [GRCh38]
Chr16:1634332 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.480C>A (p.Pro160=) single nucleotide variant Saldino-Mainzer syndrome [RCV002642984] Chr16:1592478 [GRCh38]
Chr16:1642479 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln) deletion Saldino-Mainzer syndrome [RCV002596360] Chr16:1592518..1592520 [GRCh38]
Chr16:1642519..1642521 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV003041507] Chr16:1587233 [GRCh38]
Chr16:1637234 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn) single nucleotide variant Saldino-Mainzer syndrome [RCV002644010] Chr16:1602426 [GRCh38]
Chr16:1652427 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.435A>G (p.Lys145=) single nucleotide variant Saldino-Mainzer syndrome [RCV002710192] Chr16:1592523 [GRCh38]
Chr16:1642524 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.634+9C>G single nucleotide variant Saldino-Mainzer syndrome [RCV002716831] Chr16:1592167 [GRCh38]
Chr16:1642168 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1432+18G>T single nucleotide variant Saldino-Mainzer syndrome [RCV003031957] Chr16:1583296 [GRCh38]
Chr16:1633297 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1009+17T>G single nucleotide variant Saldino-Mainzer syndrome [RCV002720603] Chr16:1587181 [GRCh38]
Chr16:1637182 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.44C>G (p.Ala15Gly) single nucleotide variant Inborn genetic diseases [RCV002718587] Chr16:1607223 [GRCh38]
Chr16:1657224 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV003030330] Chr16:1592480 [GRCh38]
Chr16:1642481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1433-14G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002581612] Chr16:1580864 [GRCh38]
Chr16:1630865 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.54C>G (p.Pro18=) single nucleotide variant Saldino-Mainzer syndrome [RCV003060499] Chr16:1607213 [GRCh38]
Chr16:1657214 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.903-5T>A single nucleotide variant Saldino-Mainzer syndrome [RCV002857802] Chr16:1587309 [GRCh38]
Chr16:1637310 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.369+16C>A single nucleotide variant Saldino-Mainzer syndrome [RCV003045970] Chr16:1602354 [GRCh38]
Chr16:1652355 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV002962603] Chr16:1602392 [GRCh38]
Chr16:1652393 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1009+16C>A single nucleotide variant Saldino-Mainzer syndrome [RCV002834560] Chr16:1587182 [GRCh38]
Chr16:1637183 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.864C>A (p.Gly288=) single nucleotide variant Saldino-Mainzer syndrome [RCV003044159] Chr16:1587971 [GRCh38]
Chr16:1637972 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.644A>G (p.His215Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV003045550] Chr16:1589771 [GRCh38]
Chr16:1639772 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.715A>T (p.Met239Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV002895592] Chr16:1589700 [GRCh38]
Chr16:1639701 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV003029575] Chr16:1586204 [GRCh38]
Chr16:1636205 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV002628298] Chr16:1607170 [GRCh38]
Chr16:1657171 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro) single nucleotide variant Saldino-Mainzer syndrome [RCV002598072] Chr16:1592482 [GRCh38]
Chr16:1642483 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV003088355] Chr16:1602564 [GRCh38]
Chr16:1652565 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.710T>A (p.Phe237Tyr) single nucleotide variant Inborn genetic diseases [RCV002936478] Chr16:1589705 [GRCh38]
Chr16:1639706 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.491+10G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002857266] Chr16:1592457 [GRCh38]
Chr16:1642458 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.565del (p.Ser189fs) deletion Saldino-Mainzer syndrome [RCV002835047] Chr16:1592245 [GRCh38]
Chr16:1642246 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV003063868] Chr16:1584283 [GRCh38]
Chr16:1634284 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.810+14G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002720618] Chr16:1589591 [GRCh38]
Chr16:1639592 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.369+20A>G single nucleotide variant Saldino-Mainzer syndrome [RCV002898904] Chr16:1602350 [GRCh38]
Chr16:1652351 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1432+17C>T single nucleotide variant Saldino-Mainzer syndrome [RCV003090561] Chr16:1583297 [GRCh38]
Chr16:1633298 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.941G>A (p.Ser314Asn) single nucleotide variant Inborn genetic diseases [RCV002672324] Chr16:1587266 [GRCh38]
Chr16:1637267 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.173T>G (p.Val58Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV003030102] Chr16:1602566 [GRCh38]
Chr16:1652567 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV002629623]|not provided [RCV003154275] Chr16:1607125 [GRCh38]
Chr16:1657126 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala) single nucleotide variant Saldino-Mainzer syndrome [RCV002583580] Chr16:1584279 [GRCh38]
Chr16:1634280 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.831C>T (p.Thr277=) single nucleotide variant Saldino-Mainzer syndrome [RCV002722097] Chr16:1588004 [GRCh38]
Chr16:1638005 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV002657801] Chr16:1602527 [GRCh38]
Chr16:1652528 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1371A>G (p.Ala457=) single nucleotide variant Saldino-Mainzer syndrome [RCV002584831] Chr16:1583375 [GRCh38]
Chr16:1633376 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV002676758] Chr16:1589756 [GRCh38]
Chr16:1639757 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.903-8T>C single nucleotide variant Saldino-Mainzer syndrome [RCV002944027] Chr16:1587312 [GRCh38]
Chr16:1637313 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp) single nucleotide variant Saldino-Mainzer syndrome [RCV002635522] Chr16:1589658 [GRCh38]
Chr16:1639659 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV003093584] Chr16:1589754 [GRCh38]
Chr16:1639755 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1346del (p.Val449fs) deletion Saldino-Mainzer syndrome [RCV003050292] Chr16:1584230 [GRCh38]
Chr16:1634231 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1501C>A (p.Arg501=) single nucleotide variant Saldino-Mainzer syndrome [RCV003072584] Chr16:1580782 [GRCh38]
Chr16:1630783 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1432+5G>A single nucleotide variant Saldino-Mainzer syndrome [RCV002722178] Chr16:1583309 [GRCh38]
Chr16:1633310 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV003050404] Chr16:1587285 [GRCh38]
Chr16:1637286 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser) single nucleotide variant Saldino-Mainzer syndrome [RCV002608514] Chr16:1589705 [GRCh38]
Chr16:1639706 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV003051078] Chr16:1602398 [GRCh38]
Chr16:1652399 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.718_720del (p.Glu240del) deletion Saldino-Mainzer syndrome [RCV002605913] Chr16:1589695..1589697 [GRCh38]
Chr16:1639696..1639698 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.413T>G (p.Val138Gly) single nucleotide variant Saldino-Mainzer syndrome [RCV003066171] Chr16:1592545 [GRCh38]
Chr16:1642546 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.873C>T (p.Leu291=) single nucleotide variant Saldino-Mainzer syndrome [RCV002586434] Chr16:1587962 [GRCh38]
Chr16:1637963 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1191C>T (p.Ser397=) single nucleotide variant Saldino-Mainzer syndrome [RCV002603344] Chr16:1584385 [GRCh38]
Chr16:1634386 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.456C>T (p.Leu152=) single nucleotide variant Saldino-Mainzer syndrome [RCV002944031] Chr16:1592502 [GRCh38]
Chr16:1642503 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg) single nucleotide variant Saldino-Mainzer syndrome [RCV002589091] Chr16:1592476 [GRCh38]
Chr16:1642477 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.1500_1503del (p.Asn500fs) deletion IFT140-related condition [RCV003397540] Chr16:1580780..1580783 [GRCh38]
Chr16:1630781..1630784 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.245C>A (p.Thr82Asn) single nucleotide variant Inborn genetic diseases [RCV003374591] Chr16:1602494 [GRCh38]
Chr16:1652495 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.732A>C (p.Ala244=) single nucleotide variant Saldino-Mainzer syndrome [RCV003873397] Chr16:1589683 [GRCh38]
Chr16:1639684 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.308_309del (p.Thr103fs) microsatellite IFT140-related condition [RCV003404251] Chr16:1602430..1602431 [GRCh38]
Chr16:1652431..1652432 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.1207A>G (p.Ile403Val) single nucleotide variant IFT140-related condition [RCV003406210] Chr16:1584369 [GRCh38]
Chr16:1634370 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1229C>T (p.Ser410Leu) single nucleotide variant IFT140-related condition [RCV003402852] Chr16:1584347 [GRCh38]
Chr16:1634348 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1119C>T (p.Thr373=) single nucleotide variant Saldino-Mainzer syndrome [RCV003530732] Chr16:1586166 [GRCh38]
Chr16:1636167 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1114del (p.Gln372fs) deletion Saldino-Mainzer syndrome [RCV003530871] Chr16:1586171 [GRCh38]
Chr16:1636172 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile) single nucleotide variant Saldino-Mainzer syndrome [RCV003825831] Chr16:1586167 [GRCh38]
Chr16:1636168 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1156-19T>C single nucleotide variant Saldino-Mainzer syndrome [RCV003530896] Chr16:1584439 [GRCh38]
Chr16:1634440 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.102C>T (p.Tyr34=) single nucleotide variant Saldino-Mainzer syndrome [RCV003530762] Chr16:1607165 [GRCh38]
Chr16:1657166 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1362T>C (p.Asp454=) single nucleotide variant Saldino-Mainzer syndrome [RCV003530907] Chr16:1583384 [GRCh38]
Chr16:1633385 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.420G>A (p.Gly140=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646913] Chr16:1592538 [GRCh38]
Chr16:1642539 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1010-10C>A single nucleotide variant Saldino-Mainzer syndrome [RCV003530685] Chr16:1586285 [GRCh38]
Chr16:1636286 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1156-11T>C single nucleotide variant Saldino-Mainzer syndrome [RCV003530781] Chr16:1584431 [GRCh38]
Chr16:1634432 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.2T>C (p.Met1Thr) single nucleotide variant Saldino-Mainzer syndrome [RCV003646931] Chr16:1607265 [GRCh38]
Chr16:1657266 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.634+13G>C single nucleotide variant Saldino-Mainzer syndrome [RCV003646401] Chr16:1592163 [GRCh38]
Chr16:1642164 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.188G>A (p.Arg63Gln) single nucleotide variant Saldino-Mainzer syndrome [RCV003647066] Chr16:1602551 [GRCh38]
Chr16:1652552 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.157_160del (p.Val53fs) microsatellite Saldino-Mainzer syndrome [RCV003530369] Chr16:1602579..1602582 [GRCh38]
Chr16:1652580..1652583 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1167G>A (p.Arg389=) single nucleotide variant Saldino-Mainzer syndrome [RCV003530380] Chr16:1584409 [GRCh38]
Chr16:1634410 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.491+16G>A single nucleotide variant Saldino-Mainzer syndrome [RCV003530382] Chr16:1592451 [GRCh38]
Chr16:1642452 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.910del (p.Asp304fs) deletion Saldino-Mainzer syndrome [RCV003646639] Chr16:1587297 [GRCh38]
Chr16:1637298 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.939G>C (p.Leu313=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646102] Chr16:1587268 [GRCh38]
Chr16:1637269 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1125C>G (p.Thr375=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646101] Chr16:1586160 [GRCh38]
Chr16:1636161 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.370-10G>A single nucleotide variant Saldino-Mainzer syndrome [RCV003646199] Chr16:1592598 [GRCh38]
Chr16:1642599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1203G>A (p.Val401=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646878] Chr16:1584373 [GRCh38]
Chr16:1634374 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1038G>C (p.Gly346=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646381] Chr16:1586247 [GRCh38]
Chr16:1636248 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.147+13A>G single nucleotide variant Saldino-Mainzer syndrome [RCV003646496] Chr16:1607107 [GRCh38]
Chr16:1657108 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.378del (p.Leu127fs) deletion Saldino-Mainzer syndrome [RCV003646500] Chr16:1592580 [GRCh38]
Chr16:1642581 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.382C>G (p.Leu128Val) single nucleotide variant Saldino-Mainzer syndrome [RCV003646950] Chr16:1592576 [GRCh38]
Chr16:1642577 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1009+17T>C single nucleotide variant Saldino-Mainzer syndrome [RCV003646947] Chr16:1587181 [GRCh38]
Chr16:1637182 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr) single nucleotide variant Saldino-Mainzer syndrome [RCV003646554] Chr16:1587221 [GRCh38]
Chr16:1637222 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.236G>T (p.Gly79Val) single nucleotide variant Saldino-Mainzer syndrome [RCV003876753] Chr16:1602503 [GRCh38]
Chr16:1652504 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.792A>G (p.Lys264=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646676] Chr16:1589623 [GRCh38]
Chr16:1639624 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1432+20A>G single nucleotide variant Saldino-Mainzer syndrome [RCV003647163] Chr16:1583294 [GRCh38]
Chr16:1633295 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1383A>C (p.Gly461=) single nucleotide variant Saldino-Mainzer syndrome [RCV003647062] Chr16:1583363 [GRCh38]
Chr16:1633364 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.78C>G (p.Val26=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646795] Chr16:1607189 [GRCh38]
Chr16:1657190 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.369+15G>A single nucleotide variant Saldino-Mainzer syndrome [RCV003877210] Chr16:1602355 [GRCh38]
Chr16:1652356 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.816G>A (p.Lys272=) single nucleotide variant Saldino-Mainzer syndrome [RCV003646125] Chr16:1588019 [GRCh38]
Chr16:1638020 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1360-13T>C single nucleotide variant Saldino-Mainzer syndrome [RCV003646902] Chr16:1583399 [GRCh38]
Chr16:1633400 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1009+10C>T single nucleotide variant IFT140-related condition [RCV003966554]|Saldino-Mainzer syndrome [RCV003646196] Chr16:1587188 [GRCh38]
Chr16:1637189 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV003646877] Chr16:1589715 [GRCh38]
Chr16:1639716 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.94G>C (p.Val32Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV003646284] Chr16:1607173 [GRCh38]
Chr16:1657174 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1524+19G>A single nucleotide variant Saldino-Mainzer syndrome [RCV003646308] Chr16:1580740 [GRCh38]
Chr16:1630741 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs) deletion Saldino-Mainzer syndrome [RCV003531074] Chr16:1586202..1586212 [GRCh38]
Chr16:1636203..1636213 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014714.4(IFT140):c.1089A>G (p.Ala363=) single nucleotide variant Saldino-Mainzer syndrome [RCV003531184] Chr16:1586196 [GRCh38]
Chr16:1636197 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.811-2A>G single nucleotide variant Saldino-Mainzer syndrome [RCV003531018] Chr16:1588026 [GRCh38]
Chr16:1638027 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_014714.4(IFT140):c.912C>T (p.Asp304=) single nucleotide variant Saldino-Mainzer syndrome [RCV003531031] Chr16:1587295 [GRCh38]
Chr16:1637296 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys) single nucleotide variant Saldino-Mainzer syndrome [RCV003817584] Chr16:1586230 [GRCh38]
Chr16:1636231 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.369+11_369+12del microsatellite Saldino-Mainzer syndrome [RCV003817537] Chr16:1602358..1602359 [GRCh38]
Chr16:1652359..1652360 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1221G>C (p.Arg407=) single nucleotide variant IFT140-related condition [RCV003966538]|Retinal dystrophy [RCV003889311]|Saldino-Mainzer syndrome [RCV003531271] Chr16:1584355 [GRCh38]
Chr16:1634356 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_014714.4(IFT140):c.148-17C>T single nucleotide variant Saldino-Mainzer syndrome [RCV003861664] Chr16:1602608 [GRCh38]
Chr16:1652609 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.1318C>T (p.Leu440=) single nucleotide variant Saldino-Mainzer syndrome [RCV003840961] Chr16:1584258 [GRCh38]
Chr16:1634259 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.190G>C (p.Val64Leu) single nucleotide variant Saldino-Mainzer syndrome [RCV003859693] Chr16:1602549 [GRCh38]
Chr16:1652550 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.913A>G (p.Ile305Val) single nucleotide variant Saldino-Mainzer syndrome [RCV003865387] Chr16:1587294 [GRCh38]
Chr16:1637295 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.213G>A (p.Pro71=) single nucleotide variant Saldino-Mainzer syndrome [RCV003871583] Chr16:1602526 [GRCh38]
Chr16:1652527 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.405G>A (p.Arg135=) single nucleotide variant Saldino-Mainzer syndrome [RCV003854237] Chr16:1592553 [GRCh38]
Chr16:1642554 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.327C>A (p.Leu109=) single nucleotide variant Retinal dystrophy [RCV003889723] Chr16:1602412 [GRCh38]
Chr16:1652413 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1405C>A (p.Leu469Ile) single nucleotide variant Retinal dystrophy [RCV003889716] Chr16:1583341 [GRCh38]
Chr16:1633342 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.992G>A (p.Cys331Tyr) single nucleotide variant Retinal dystrophy [RCV003889717] Chr16:1587215 [GRCh38]
Chr16:1637216 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.674A>G (p.Gln225Arg) single nucleotide variant Retinal dystrophy [RCV003889720] Chr16:1589741 [GRCh38]
Chr16:1639742 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.340A>G (p.Ser114Gly) single nucleotide variant Retinal dystrophy [RCV003889721] Chr16:1602399 [GRCh38]
Chr16:1652400 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1015C>T (p.Leu339=) single nucleotide variant IFT140-related condition [RCV003981242] Chr16:1586270 [GRCh38]
Chr16:1636271 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.902+87T>C single nucleotide variant IFT140-related condition [RCV003949125] Chr16:1587846 [GRCh38]
Chr16:1637847 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014714.4(IFT140):c.841G>T (p.Ala281Ser) single nucleotide variant Retinal dystrophy [RCV003889719] Chr16:1587994 [GRCh38]
Chr16:1637995 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.83C>A (p.Pro28Gln) single nucleotide variant Retinal dystrophy [RCV003889724] Chr16:1607184 [GRCh38]
Chr16:1657185 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014714.4(IFT140):c.1456G>A (p.Val486Met) single nucleotide variant Retinal dystrophy [RCV003889715] Chr16:1580827 [GRCh38]
Chr16:1630828 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:411
Count of miRNA genes:334
Interacting mature miRNAs:372
Transcripts:ENST00000563162
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 1
Low 359 148 892 47 65 21 525 112 607 109 713 948 31 110 296
Below cutoff 1449 1254 486 254 401 148 2228 966 1920 196 531 483 110 746 1333 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000563162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,580,527 - 1,610,328 (+)Ensembl
RefSeq Acc Id: NR_135176
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,580,527 - 1,610,328 (+)NCBI
T2T-CHM13v2.0161,595,559 - 1,626,175 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AL133297.2 COSMIC
Ensembl Genes ENSG00000260989 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000563162 ENTREZGENE
GTEx ENSG00000260989 GTEx
Human Proteome Map AL133297.2 Human Proteome Map
NCBI Gene LOC105371046 ENTREZGENE
RNAcentral URS0000A768D9 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-06-25 AL133297.2  novel transcript, antisense to IFT140  LOC105371046  uncharacterized LOC105371046  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC105371046  uncharacterized LOC105371046  AL133297.2  novel transcript, antisense to IFT140  Symbol and/or name change 5135510 APPROVED