Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | retinitis pigmentosa 68 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | retinitis pigmentosa 68 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:10997877 | PMID:12477932 | PMID:14702039 | PMID:16344560 | PMID:19389623 | PMID:20301590 | PMID:20379614 | PMID:21873635 | PMID:22787143 | PMID:24670872 | PMID:27028480 | PMID:30631154 |
PMID:30924391 | PMID:32296183 | PMID:33961781 | PMID:35394837 |
SLC7A14 (Homo sapiens - human) |
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Slc7a14 (Mus musculus - house mouse) |
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Slc7a14 (Rattus norvegicus - Norway rat) |
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Slc7a14 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC7A14 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC7A14 (Canis lupus familiaris - dog) |
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Slc7a14 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC7A14 (Sus scrofa - pig) |
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SLC7A14 (Chlorocebus sabaeus - green monkey) |
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Slc7a14 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC7A14
424 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_020949.3(SLC7A14):c.1167C>T (p.Ile389=) | single nucleotide variant | not provided [RCV002726193] | Chr3:170481115 [GRCh38] Chr3:170198904 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg) | single nucleotide variant | Retinitis pigmentosa 68 [RCV000114374]|not provided [RCV000890766] | Chr3:170483441 [GRCh38] Chr3:170201230 [GRCh37] Chr3:3q26.2 |
pathogenic|benign|likely benign |
NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val) | single nucleotide variant | Retinitis pigmentosa 68 [RCV000114375] | Chr3:170467249 [GRCh38] Chr3:170185037 [GRCh37] Chr3:3q26.2 |
pathogenic |
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) | single nucleotide variant | Retinitis pigmentosa 68 [RCV000114376]|not provided [RCV000902663] | Chr3:170480891 [GRCh38] Chr3:170198680 [GRCh37] Chr3:3q26.2 |
pathogenic|benign|conflicting interpretations of pathogenicity |
NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val) | single nucleotide variant | Retinitis pigmentosa 68 [RCV000114377] | Chr3:170501255 [GRCh38] Chr3:170219044 [GRCh37] Chr3:3q26.2 |
pathogenic |
NM_020949.2(SLC7A14):c.*6072G>A | single nucleotide variant | Lung cancer [RCV000093269] | Chr3:170460983 [GRCh38] Chr3:170178771 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.2(SLC7A14):c.1116-727C>G | single nucleotide variant | Lung cancer [RCV000093270] | Chr3:170481893 [GRCh38] Chr3:170199682 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 | copy number gain | See cases [RCV000051724] | Chr3:147442566..178522531 [GRCh38] Chr3:147160353..178240319 [GRCh37] Chr3:148643043..179723013 [NCBI36] Chr3:3q24-26.32 |
pathogenic |
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 | copy number gain | See cases [RCV000051725] | Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 | copy number gain | See cases [RCV000051726] | Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 | copy number gain | See cases [RCV000051735] | Chr3:158141556..172788324 [GRCh38] Chr3:157859345..172506114 [GRCh37] Chr3:159342039..173988808 [NCBI36] Chr3:3q25.32-26.31 |
pathogenic |
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] | Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29 |
pathogenic |
NM_020949.3(SLC7A14):c.448G>A (p.Gly150Arg) | single nucleotide variant | not provided [RCV002572775] | Chr3:170501202 [GRCh38] Chr3:170218991 [GRCh37] Chr3:171701685 [NCBI36] Chr3:3q26.2 |
uncertain significance|not provided |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 | copy number gain | See cases [RCV000134948] | Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 | copy number gain | See cases [RCV000137106] | Chr3:168167568..198110178 [GRCh38] Chr3:167885356..197837049 [GRCh37] Chr3:169368050..199321446 [NCBI36] Chr3:3q26.2-29 |
pathogenic |
GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3 | copy number gain | See cases [RCV000136642] | Chr3:166831737..170631211 [GRCh38] Chr3:166549525..170349000 [GRCh37] Chr3:168032219..171831694 [NCBI36] Chr3:3q26.1-26.2 |
uncertain significance |
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 | copy number gain | See cases [RCV000139359] | Chr3:165158611..180130168 [GRCh38] Chr3:164876399..179847956 [GRCh37] Chr3:166359093..181330650 [NCBI36] Chr3:3q26.1-26.33 |
pathogenic |
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 | copy number gain | See cases [RCV000139435] | Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 | copy number gain | See cases [RCV000140849] | Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 | copy number gain | See cases [RCV000142310] | Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 | copy number gain | See cases [RCV000142107] | Chr3:167717962..188365272 [GRCh38] Chr3:167435750..188083060 [GRCh37] Chr3:168918444..189565754 [NCBI36] Chr3:3q26.1-28 |
likely pathogenic |
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 | copy number gain | See cases [RCV000143694] | Chr3:166137209..198125115 [GRCh38] Chr3:165854997..197851986 [GRCh37] Chr3:167337691..199336383 [NCBI36] Chr3:3q26.1-29 |
pathogenic |
NM_020949.3(SLC7A14):c.2292T>A (p.Asp764Glu) | single nucleotide variant | not provided [RCV001367503] | Chr3:170467079 [GRCh38] Chr3:170184867 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 | copy number gain | See cases [RCV000240256] | Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29 |
pathogenic |
NM_020949.3(SLC7A14):c.541+3G>A | single nucleotide variant | not provided [RCV001868038]|not specified [RCV000605851] | Chr3:170501106 [GRCh38] Chr3:170218895 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.586G>A (p.Ala196Thr) | single nucleotide variant | not provided [RCV001051914] | Chr3:170498840 [GRCh38] Chr3:170216629 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 | copy number gain | See cases [RCV000447464] | Chr3:158980631..197766890 [GRCh37] Chr3:3q25.32-29 |
pathogenic |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 | copy number gain | See cases [RCV000446611] | Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 | copy number gain | See cases [RCV000448608] | Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29 |
pathogenic |
NM_020949.3(SLC7A14):c.1258A>C (p.Thr420Pro) | single nucleotide variant | Inborn genetic diseases [RCV003256346] | Chr3:170481024 [GRCh38] Chr3:170198813 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe) | single nucleotide variant | Retinitis pigmentosa 68 [RCV000714685]|not provided [RCV001862003] | Chr3:170481036 [GRCh38] Chr3:170198825 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_020949.3(SLC7A14):c.747C>T (p.His249=) | single nucleotide variant | not provided [RCV000895354] | Chr3:170498679 [GRCh38] Chr3:170216468 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2290G>T (p.Asp764Tyr) | single nucleotide variant | not provided [RCV001057923] | Chr3:170467081 [GRCh38] Chr3:170184869 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.615G>A (p.Leu205=) | single nucleotide variant | Retinal dystrophy [RCV001073533]|not provided [RCV000883730] | Chr3:170498811 [GRCh38] Chr3:170216600 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.1890T>G (p.Pro630=) | single nucleotide variant | not provided [RCV000899769]|not specified [RCV001701243] | Chr3:170480392 [GRCh38] Chr3:170198181 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.1083T>A (p.Ile361=) | single nucleotide variant | not provided [RCV000881128] | Chr3:170483346 [GRCh38] Chr3:170201135 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.786C>G (p.Phe262Leu) | single nucleotide variant | Inborn genetic diseases [RCV002553107]|not provided [RCV001044054] | Chr3:170486342 [GRCh38] Chr3:170204131 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) | single nucleotide variant | Inborn genetic diseases [RCV002553224]|Retinitis pigmentosa 68 [RCV002481959]|not provided [RCV001050504]|not specified [RCV002307665] | Chr3:170481114 [GRCh38] Chr3:170198903 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1976C>T (p.Ala659Val) | single nucleotide variant | not provided [RCV001071378] | Chr3:170480306 [GRCh38] Chr3:170198095 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1726A>G (p.Met576Val) | single nucleotide variant | not provided [RCV001051380] | Chr3:170480556 [GRCh38] Chr3:170198345 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.176T>C (p.Ile59Thr) | single nucleotide variant | not provided [RCV001046322] | Chr3:170526761 [GRCh38] Chr3:170244550 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1666C>T (p.Arg556Trp) | single nucleotide variant | Retinal dystrophy [RCV001073529]|not provided [RCV002554667] | Chr3:170480616 [GRCh38] Chr3:170198405 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1540G>A (p.Val514Met) | single nucleotide variant | not provided [RCV001047691] | Chr3:170480742 [GRCh38] Chr3:170198531 [GRCh37] Chr3:3q26.2 |
benign|uncertain significance |
NM_020949.3(SLC7A14):c.1516G>A (p.Val506Ile) | single nucleotide variant | Inborn genetic diseases [RCV003160214]|not provided [RCV001036438] | Chr3:170480766 [GRCh38] Chr3:170198555 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1929C>T (p.Asn643=) | single nucleotide variant | not provided [RCV000903940] | Chr3:170480353 [GRCh38] Chr3:170198142 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.1551C>T (p.Thr517=) | single nucleotide variant | not provided [RCV000929434] | Chr3:170480731 [GRCh38] Chr3:170198520 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2115G>A (p.Glu705=) | single nucleotide variant | not provided [RCV000980896] | Chr3:170467256 [GRCh38] Chr3:170185044 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.714G>C (p.Gly238=) | single nucleotide variant | not provided [RCV000916552] | Chr3:170498712 [GRCh38] Chr3:170216501 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2226G>A (p.Arg742=) | single nucleotide variant | not provided [RCV000961039]|not specified [RCV001699482] | Chr3:170467145 [GRCh38] Chr3:170184933 [GRCh37] Chr3:3q26.2 |
benign|likely benign |
NM_020949.3(SLC7A14):c.2277C>T (p.Ala759=) | single nucleotide variant | not provided [RCV000916399] | Chr3:170467094 [GRCh38] Chr3:170184882 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.2083C>T (p.Arg695Cys) | single nucleotide variant | not provided [RCV000894729] | Chr3:170467288 [GRCh38] Chr3:170185076 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg) | single nucleotide variant | Retinitis pigmentosa 68 [RCV002503013]|not provided [RCV000963611] | Chr3:170467207 [GRCh38] Chr3:170184995 [GRCh37] Chr3:3q26.2 |
benign|likely benign |
NM_020949.3(SLC7A14):c.1747A>G (p.Ile583Val) | single nucleotide variant | not provided [RCV000998157] | Chr3:170480535 [GRCh38] Chr3:170198324 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1019T>C (p.Ile340Thr) | single nucleotide variant | not provided [RCV001054621] | Chr3:170483410 [GRCh38] Chr3:170201199 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1129G>A (p.Val377Ile) | single nucleotide variant | not provided [RCV000963137] | Chr3:170481153 [GRCh38] Chr3:170198942 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.1067C>T (p.Pro356Leu) | single nucleotide variant | not provided [RCV001062740] | Chr3:170483362 [GRCh38] Chr3:170201151 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1360G>A (p.Gly454Ser) | single nucleotide variant | not provided [RCV001213849] | Chr3:170480922 [GRCh38] Chr3:170198711 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1757G>A (p.Gly586Asp) | single nucleotide variant | not provided [RCV001060339] | Chr3:170480525 [GRCh38] Chr3:170198314 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1705G>A (p.Val569Met) | single nucleotide variant | Inborn genetic diseases [RCV002563865]|not provided [RCV001236595] | Chr3:170480577 [GRCh38] Chr3:170198366 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1970G>A (p.Arg657Gln) | single nucleotide variant | not provided [RCV001239157] | Chr3:170480312 [GRCh38] Chr3:170198101 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.712G>A (p.Gly238Arg) | single nucleotide variant | Inborn genetic diseases [RCV002563045]|not provided [RCV001223860] | Chr3:170498714 [GRCh38] Chr3:170216503 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2297T>C (p.Leu766Ser) | single nucleotide variant | not provided [RCV001237977] | Chr3:170467074 [GRCh38] Chr3:170184862 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1150C>T (p.Pro384Ser) | single nucleotide variant | not provided [RCV001241570] | Chr3:170481132 [GRCh38] Chr3:170198921 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1013T>C (p.Val338Ala) | single nucleotide variant | not provided [RCV001240644] | Chr3:170483416 [GRCh38] Chr3:170201205 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1114A>G (p.Arg372Gly) | single nucleotide variant | not provided [RCV001239827] | Chr3:170483315 [GRCh38] Chr3:170201104 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.119G>A (p.Gly40Glu) | single nucleotide variant | not provided [RCV001232697] | Chr3:170526818 [GRCh38] Chr3:170244607 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 | copy number gain | not provided [RCV001005487] | Chr3:169617690..190593854 [GRCh37] Chr3:3q26.2-28 |
pathogenic |
NM_020949.3(SLC7A14):c.1640G>A (p.Arg547Gln) | single nucleotide variant | not provided [RCV003106477] | Chr3:170480642 [GRCh38] Chr3:170198431 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1769T>A (p.Ile590Asn) | single nucleotide variant | not provided [RCV002001754] | Chr3:170480513 [GRCh38] Chr3:170198302 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1704C>T (p.Cys568=) | single nucleotide variant | not provided [RCV000904833] | Chr3:170480578 [GRCh38] Chr3:170198367 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1128C>T (p.His376=) | single nucleotide variant | not provided [RCV000887866] | Chr3:170481154 [GRCh38] Chr3:170198943 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.821C>T (p.Thr274Ile) | single nucleotide variant | not provided [RCV000885980] | Chr3:170486307 [GRCh38] Chr3:170204096 [GRCh37] Chr3:3q26.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_020949.3(SLC7A14):c.1172C>T (p.Ser391Leu) | single nucleotide variant | not provided [RCV000907408] | Chr3:170481110 [GRCh38] Chr3:170198899 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.480A>C (p.Ser160=) | single nucleotide variant | not provided [RCV000897349] | Chr3:170501170 [GRCh38] Chr3:170218959 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1116-4C>G | single nucleotide variant | not provided [RCV000955323]|not specified [RCV001699476] | Chr3:170481170 [GRCh38] Chr3:170198959 [GRCh37] Chr3:3q26.2 |
benign|likely benign |
NM_020949.3(SLC7A14):c.837G>A (p.Lys279=) | single nucleotide variant | not provided [RCV000910361] | Chr3:170486291 [GRCh38] Chr3:170204080 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.855C>T (p.Ile285=) | single nucleotide variant | not provided [RCV000904306] | Chr3:170486273 [GRCh38] Chr3:170204062 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.789C>T (p.Tyr263=) | single nucleotide variant | not provided [RCV000973350] | Chr3:170486339 [GRCh38] Chr3:170204128 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.907-6T>C | single nucleotide variant | not provided [RCV000907566] | Chr3:170483528 [GRCh38] Chr3:170201317 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1539C>T (p.Thr513=) | single nucleotide variant | not provided [RCV000896164] | Chr3:170480743 [GRCh38] Chr3:170198532 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1534G>A (p.Gly512Ser) | single nucleotide variant | not provided [RCV001225694] | Chr3:170480748 [GRCh38] Chr3:170198537 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2108C>T (p.Ser703Leu) | single nucleotide variant | not provided [RCV001207331] | Chr3:170467263 [GRCh38] Chr3:170185051 [GRCh37] Chr3:3q26.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_020949.3(SLC7A14):c.1726A>T (p.Met576Leu) | single nucleotide variant | not provided [RCV001242537] | Chr3:170480556 [GRCh38] Chr3:170198345 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.35G>A (p.Arg12Gln) | single nucleotide variant | not provided [RCV001236173] | Chr3:170526902 [GRCh38] Chr3:170244691 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.838A>G (p.Asn280Asp) | single nucleotide variant | not provided [RCV001244726] | Chr3:170486290 [GRCh38] Chr3:170204079 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1679C>T (p.Ala560Val) | single nucleotide variant | not provided [RCV001240268] | Chr3:170480603 [GRCh38] Chr3:170198392 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2092G>A (p.Val698Met) | single nucleotide variant | Inborn genetic diseases [RCV002568622]|not provided [RCV001245489] | Chr3:170467279 [GRCh38] Chr3:170185067 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.795C>T (p.Phe265=) | single nucleotide variant | not provided [RCV000890093] | Chr3:170486333 [GRCh38] Chr3:170204122 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.1533C>T (p.Tyr511=) | single nucleotide variant | not provided [RCV000956155] | Chr3:170480749 [GRCh38] Chr3:170198538 [GRCh37] Chr3:3q26.2 |
benign |
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 | copy number gain | not provided [RCV002472621] | Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31 |
pathogenic |
NM_020949.3(SLC7A14):c.1714C>A (p.Leu572Ile) | single nucleotide variant | not provided [RCV001054100] | Chr3:170480568 [GRCh38] Chr3:170198357 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1565C>T (p.Ala522Val) | single nucleotide variant | Inborn genetic diseases [RCV003259073]|not provided [RCV001060956] | Chr3:170480717 [GRCh38] Chr3:170198506 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.691G>A (p.Ala231Thr) | single nucleotide variant | not provided [RCV001064830] | Chr3:170498735 [GRCh38] Chr3:170216524 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1994-3C>T | single nucleotide variant | not provided [RCV001057629] | Chr3:170467380 [GRCh38] Chr3:170185168 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1006T>C (p.Phe336Leu) | single nucleotide variant | not provided [RCV001058243] | Chr3:170483423 [GRCh38] Chr3:170201212 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.767A>G (p.Gln256Arg) | single nucleotide variant | not provided [RCV001060455] | Chr3:170486361 [GRCh38] Chr3:170204150 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1168G>A (p.Val390Met) | single nucleotide variant | not provided [RCV001066621] | Chr3:170481114 [GRCh38] Chr3:170198903 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1559T>C (p.Ile520Thr) | single nucleotide variant | not provided [RCV001232234] | Chr3:170480723 [GRCh38] Chr3:170198512 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.632T>C (p.Ile211Thr) | single nucleotide variant | not provided [RCV001247002] | Chr3:170498794 [GRCh38] Chr3:170216583 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.1796T>C (p.Leu599Pro) | single nucleotide variant | not provided [RCV001207574] | Chr3:170480486 [GRCh38] Chr3:170198275 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1708C>T (p.Leu570Phe) | single nucleotide variant | not provided [RCV001048994] | Chr3:170480574 [GRCh38] Chr3:170198363 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1667G>A (p.Arg556Gln) | single nucleotide variant | not provided [RCV001232285] | Chr3:170480615 [GRCh38] Chr3:170198404 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1073C>T (p.Pro358Leu) | single nucleotide variant | Inborn genetic diseases [RCV002563170]|not provided [RCV001229745] | Chr3:170483356 [GRCh38] Chr3:170201145 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1850A>C (p.Gln617Pro) | single nucleotide variant | not provided [RCV001230176] | Chr3:170480432 [GRCh38] Chr3:170198221 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1548_1550dup (p.Thr518dup) | duplication | not provided [RCV001049787] | Chr3:170480731..170480732 [GRCh38] Chr3:170198520..170198521 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.455G>T (p.Ser152Ile) | single nucleotide variant | not provided [RCV001208637] | Chr3:170501195 [GRCh38] Chr3:170218984 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.725C>T (p.Ala242Val) | single nucleotide variant | not provided [RCV001044565] | Chr3:170498701 [GRCh38] Chr3:170216490 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1570G>T (p.Glu524Ter) | single nucleotide variant | not provided [RCV001044912] | Chr3:170480712 [GRCh38] Chr3:170198501 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.559T>C (p.Tyr187His) | single nucleotide variant | not provided [RCV001037189] | Chr3:170498867 [GRCh38] Chr3:170216656 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.983C>A (p.Ala328Asp) | single nucleotide variant | Inborn genetic diseases [RCV002563252]|not provided [RCV001235376] | Chr3:170483446 [GRCh38] Chr3:170201235 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.118G>A (p.Gly40Arg) | single nucleotide variant | Inborn genetic diseases [RCV003283879]|not provided [RCV001038002] | Chr3:170526819 [GRCh38] Chr3:170244608 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.444G>A (p.Ala148=) | single nucleotide variant | not provided [RCV001235690] | Chr3:170501206 [GRCh38] Chr3:170218995 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.2282T>C (p.Ile761Thr) | single nucleotide variant | Inborn genetic diseases [RCV002561825]|not provided [RCV001213765] | Chr3:170467089 [GRCh38] Chr3:170184877 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1008C>G (p.Phe336Leu) | single nucleotide variant | not provided [RCV001037712] | Chr3:170483421 [GRCh38] Chr3:170201210 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.83G>A (p.Arg28His) | single nucleotide variant | not provided [RCV001232800] | Chr3:170526854 [GRCh38] Chr3:170244643 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.191G>T (p.Gly64Val) | single nucleotide variant | not provided [RCV001349382] | Chr3:170526746 [GRCh38] Chr3:170244535 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1727T>A (p.Met576Lys) | single nucleotide variant | not provided [RCV001302999] | Chr3:170480555 [GRCh38] Chr3:170198344 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.380T>A (p.Val127Asp) | single nucleotide variant | Inborn genetic diseases [RCV002541929]|not provided [RCV001300538] | Chr3:170501270 [GRCh38] Chr3:170219059 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1272_1275del (p.Cys425fs) | microsatellite | not provided [RCV001308410] | Chr3:170481007..170481010 [GRCh38] Chr3:170198796..170198799 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.116C>T (p.Thr39Ile) | single nucleotide variant | not provided [RCV001308539] | Chr3:170526821 [GRCh38] Chr3:170244610 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2223C>T (p.Gly741=) | single nucleotide variant | not provided [RCV001339049] | Chr3:170467148 [GRCh38] Chr3:170184936 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.590T>C (p.Val197Ala) | single nucleotide variant | not provided [RCV001299413] | Chr3:170498836 [GRCh38] Chr3:170216625 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2306C>G (p.Ser769Cys) | single nucleotide variant | not provided [RCV001327670] | Chr3:170467065 [GRCh38] Chr3:170184853 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1700T>A (p.Ile567Asn) | single nucleotide variant | not provided [RCV001340433] | Chr3:170480582 [GRCh38] Chr3:170198371 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.700T>G (p.Phe234Val) | single nucleotide variant | not provided [RCV001343091] | Chr3:170498726 [GRCh38] Chr3:170216515 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.910A>T (p.Ser304Cys) | single nucleotide variant | not provided [RCV001300037] | Chr3:170483519 [GRCh38] Chr3:170201308 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2316G>C (p.Ter772Tyr) | single nucleotide variant | not provided [RCV001306807] | Chr3:170467055 [GRCh38] Chr3:170184843 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2245AGCAAA[1] (p.749SK[1]) | microsatellite | not provided [RCV001349214] | Chr3:170467115..170467120 [GRCh38] Chr3:170184903..170184908 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1533C>A (p.Tyr511Ter) | single nucleotide variant | not provided [RCV002021193] | Chr3:170480749 [GRCh38] Chr3:170198538 [GRCh37] Chr3:3q26.2 |
pathogenic|uncertain significance |
NM_020949.3(SLC7A14):c.520G>A (p.Val174Met) | single nucleotide variant | not provided [RCV001340753] | Chr3:170501130 [GRCh38] Chr3:170218919 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.134A>G (p.His45Arg) | single nucleotide variant | not provided [RCV001305211] | Chr3:170526803 [GRCh38] Chr3:170244592 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1940T>C (p.Met647Thr) | single nucleotide variant | not provided [RCV001305966] | Chr3:170480342 [GRCh38] Chr3:170198131 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.331C>T (p.Arg111Ter) | single nucleotide variant | not provided [RCV001349813] | Chr3:170501319 [GRCh38] Chr3:170219108 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.595G>A (p.Val199Met) | single nucleotide variant | not provided [RCV001296765] | Chr3:170498831 [GRCh38] Chr3:170216620 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2143G>A (p.Glu715Lys) | single nucleotide variant | not provided [RCV001362870] | Chr3:170467228 [GRCh38] Chr3:170185016 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.954G>A (p.Thr318=) | single nucleotide variant | not provided [RCV001313727] | Chr3:170483475 [GRCh38] Chr3:170201264 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.1304G>A (p.Ser435Asn) | single nucleotide variant | not provided [RCV001326306] | Chr3:170480978 [GRCh38] Chr3:170198767 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1615C>T (p.Pro539Ser) | single nucleotide variant | not provided [RCV001321855] | Chr3:170480667 [GRCh38] Chr3:170198456 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1291T>C (p.Tyr431His) | single nucleotide variant | not provided [RCV001372225] | Chr3:170480991 [GRCh38] Chr3:170198780 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1591A>G (p.Ile531Val) | single nucleotide variant | not provided [RCV001373965] | Chr3:170480691 [GRCh38] Chr3:170198480 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.983C>G (p.Ala328Gly) | single nucleotide variant | not provided [RCV001297428] | Chr3:170483446 [GRCh38] Chr3:170201235 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.259G>A (p.Val87Ile) | single nucleotide variant | not provided [RCV001320543] | Chr3:170526678 [GRCh38] Chr3:170244467 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2151GGA[1] (p.Glu718del) | microsatellite | not provided [RCV001346187] | Chr3:170467215..170467217 [GRCh38] Chr3:170185003..170185005 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1762G>C (p.Asp588His) | single nucleotide variant | not provided [RCV001361582] | Chr3:170480520 [GRCh38] Chr3:170198309 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1115+8C>G | single nucleotide variant | not provided [RCV001347788] | Chr3:170483306 [GRCh38] Chr3:170201095 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.113G>C (p.Gly38Ala) | single nucleotide variant | not provided [RCV001326994] | Chr3:170526824 [GRCh38] Chr3:170244613 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.31C>T (p.Arg11Trp) | single nucleotide variant | not provided [RCV001321277] | Chr3:170526906 [GRCh38] Chr3:170244695 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2083C>A (p.Arg695Ser) | single nucleotide variant | not provided [RCV001317508] | Chr3:170467288 [GRCh38] Chr3:170185076 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1240G>A (p.Gly414Ser) | single nucleotide variant | not provided [RCV001345623] | Chr3:170481042 [GRCh38] Chr3:170198831 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.246G>A (p.Met82Ile) | single nucleotide variant | not provided [RCV001362543] | Chr3:170526691 [GRCh38] Chr3:170244480 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.953C>T (p.Thr318Met) | single nucleotide variant | Inborn genetic diseases [RCV002548473]|not provided [RCV001350803] | Chr3:170483476 [GRCh38] Chr3:170201265 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.136G>A (p.Gly46Arg) | single nucleotide variant | not provided [RCV001360378] | Chr3:170526801 [GRCh38] Chr3:170244590 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2139G>A (p.Glu713=) | single nucleotide variant | not provided [RCV001412381] | Chr3:170467232 [GRCh38] Chr3:170185020 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1818G>A (p.Leu606=) | single nucleotide variant | not provided [RCV001396095] | Chr3:170480464 [GRCh38] Chr3:170198253 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.541+5G>C | single nucleotide variant | not provided [RCV001366927] | Chr3:170501104 [GRCh38] Chr3:170218893 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1884G>T (p.Met628Ile) | single nucleotide variant | not provided [RCV001368523] | Chr3:170480398 [GRCh38] Chr3:170198187 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.275T>C (p.Ile92Thr) | single nucleotide variant | not provided [RCV001351504] | Chr3:170526662 [GRCh38] Chr3:170244451 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1768A>C (p.Ile590Leu) | single nucleotide variant | not provided [RCV001306113] | Chr3:170480514 [GRCh38] Chr3:170198303 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1796T>G (p.Leu599Arg) | single nucleotide variant | not provided [RCV001352573] | Chr3:170480486 [GRCh38] Chr3:170198275 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.157C>G (p.Leu53Val) | single nucleotide variant | not provided [RCV001361022] | Chr3:170526780 [GRCh38] Chr3:170244569 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1244C>T (p.Thr415Met) | single nucleotide variant | not provided [RCV001339273] | Chr3:170481038 [GRCh38] Chr3:170198827 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.639C>A (p.Phe213Leu) | single nucleotide variant | not provided [RCV001312806] | Chr3:170498787 [GRCh38] Chr3:170216576 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1102G>A (p.Gly368Arg) | single nucleotide variant | not provided [RCV001317423] | Chr3:170483327 [GRCh38] Chr3:170201116 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=) | single nucleotide variant | Retinitis pigmentosa 68 [RCV002499833]|not provided [RCV001395363] | Chr3:170480767 [GRCh38] Chr3:170198556 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.759G>A (p.Gly253=) | single nucleotide variant | not provided [RCV001339534] | Chr3:170498667 [GRCh38] Chr3:170216456 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1692G>A (p.Thr564=) | single nucleotide variant | not provided [RCV001464895] | Chr3:170480590 [GRCh38] Chr3:170198379 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1233G>A (p.Met411Ile) | single nucleotide variant | not provided [RCV001435640] | Chr3:170481049 [GRCh38] Chr3:170198838 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.261C>T (p.Val87=) | single nucleotide variant | not provided [RCV001468555] | Chr3:170526676 [GRCh38] Chr3:170244465 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.264T>C (p.Ile88=) | single nucleotide variant | not provided [RCV001458313] | Chr3:170526673 [GRCh38] Chr3:170244462 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.906+20G>A | single nucleotide variant | not provided [RCV001404938] | Chr3:170486202 [GRCh38] Chr3:170203991 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.9C>T (p.Gly3=) | single nucleotide variant | not provided [RCV001465549] | Chr3:170526928 [GRCh38] Chr3:170244717 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.372T>C (p.Tyr124=) | single nucleotide variant | not provided [RCV001499033] | Chr3:170501278 [GRCh38] Chr3:170219067 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.330T>C (p.Val110=) | single nucleotide variant | not provided [RCV001499117] | Chr3:170501320 [GRCh38] Chr3:170219109 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2091C>T (p.Asp697=) | single nucleotide variant | not provided [RCV001484908] | Chr3:170467280 [GRCh38] Chr3:170185068 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1245G>A (p.Thr415=) | single nucleotide variant | not provided [RCV001479779] | Chr3:170481037 [GRCh38] Chr3:170198826 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1008C>T (p.Phe336=) | single nucleotide variant | not provided [RCV001431247] | Chr3:170483421 [GRCh38] Chr3:170201210 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1074G>A (p.Pro358=) | single nucleotide variant | not provided [RCV001452655] | Chr3:170483355 [GRCh38] Chr3:170201144 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.681C>T (p.Phe227=) | single nucleotide variant | not provided [RCV001477729] | Chr3:170498745 [GRCh38] Chr3:170216534 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.906+19C>T | single nucleotide variant | not provided [RCV001489539] | Chr3:170486203 [GRCh38] Chr3:170203992 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.447C>T (p.Ala149=) | single nucleotide variant | not provided [RCV001467154] | Chr3:170501203 [GRCh38] Chr3:170218992 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.531C>T (p.Leu177=) | single nucleotide variant | not provided [RCV001472592] | Chr3:170501119 [GRCh38] Chr3:170218908 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1698C>A (p.Thr566=) | single nucleotide variant | not provided [RCV001498672] | Chr3:170480584 [GRCh38] Chr3:170198373 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1896C>T (p.Leu632=) | single nucleotide variant | not provided [RCV001467810] | Chr3:170480386 [GRCh38] Chr3:170198175 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.585C>T (p.Ile195=) | single nucleotide variant | not provided [RCV001419937] | Chr3:170498841 [GRCh38] Chr3:170216630 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1115+14T>G | single nucleotide variant | not provided [RCV001406765] | Chr3:170483300 [GRCh38] Chr3:170201089 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2142C>T (p.Gly714=) | single nucleotide variant | not provided [RCV001425171] | Chr3:170467229 [GRCh38] Chr3:170185017 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.542-8C>G | single nucleotide variant | not provided [RCV001415575] | Chr3:170498892 [GRCh38] Chr3:170216681 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1680G>C (p.Ala560=) | single nucleotide variant | not provided [RCV001436135] | Chr3:170480602 [GRCh38] Chr3:170198391 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1833G>C (p.Leu611=) | single nucleotide variant | not provided [RCV001401222] | Chr3:170480449 [GRCh38] Chr3:170198238 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.907-10G>A | single nucleotide variant | not provided [RCV001444714] | Chr3:170483532 [GRCh38] Chr3:170201321 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.542-7T>C | single nucleotide variant | not provided [RCV001407971] | Chr3:170498891 [GRCh38] Chr3:170216680 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2211G>A (p.Ala737=) | single nucleotide variant | not provided [RCV001426723] | Chr3:170467160 [GRCh38] Chr3:170184948 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1461A>G (p.Pro487=) | single nucleotide variant | not provided [RCV001432065] | Chr3:170480821 [GRCh38] Chr3:170198610 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.542-13C>A | single nucleotide variant | not provided [RCV001440689] | Chr3:170498897 [GRCh38] Chr3:170216686 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.304+5G>A | single nucleotide variant | not provided [RCV001519098] | Chr3:170526628 [GRCh38] Chr3:170244417 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.582G>A (p.Leu194=) | single nucleotide variant | not provided [RCV001467782] | Chr3:170498844 [GRCh38] Chr3:170216633 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1491G>C (p.Gly497=) | single nucleotide variant | not provided [RCV001450418] | Chr3:170480791 [GRCh38] Chr3:170198580 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1680G>A (p.Ala560=) | single nucleotide variant | not provided [RCV001495487] | Chr3:170480602 [GRCh38] Chr3:170198391 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2210C>T (p.Ala737Val) | single nucleotide variant | not provided [RCV001510222] | Chr3:170467161 [GRCh38] Chr3:170184949 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.2130C>T (p.Tyr710=) | single nucleotide variant | not provided [RCV001479585] | Chr3:170467241 [GRCh38] Chr3:170185029 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1230G>A (p.Met410Ile) | single nucleotide variant | not provided [RCV001455292] | Chr3:170481052 [GRCh38] Chr3:170198841 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=) | single nucleotide variant | Retinitis pigmentosa 68 [RCV001810051]|not provided [RCV001511478] | Chr3:170481109 [GRCh38] Chr3:170198898 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.1683G>A (p.Thr561=) | single nucleotide variant | not provided [RCV001477099] | Chr3:170480599 [GRCh38] Chr3:170198388 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.171C>T (p.Asp57=) | single nucleotide variant | not provided [RCV001455974] | Chr3:170526766 [GRCh38] Chr3:170244555 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1299T>G (p.Pro433=) | single nucleotide variant | not provided [RCV001500777] | Chr3:170480983 [GRCh38] Chr3:170198772 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.759+9G>T | single nucleotide variant | not provided [RCV001458066] | Chr3:170498658 [GRCh38] Chr3:170216447 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.453C>A (p.Ala151=) | single nucleotide variant | not provided [RCV001465529] | Chr3:170501197 [GRCh38] Chr3:170218986 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1215A>G (p.Arg405=) | single nucleotide variant | not provided [RCV001501667] | Chr3:170481067 [GRCh38] Chr3:170198856 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1994-9G>A | single nucleotide variant | not provided [RCV001520499] | Chr3:170467386 [GRCh38] Chr3:170185174 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.636C>T (p.Gly212=) | single nucleotide variant | not provided [RCV001403469] | Chr3:170498790 [GRCh38] Chr3:170216579 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2076G>A (p.Thr692=) | single nucleotide variant | not provided [RCV001485938] | Chr3:170467295 [GRCh38] Chr3:170185083 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2241G>A (p.Ala747=) | single nucleotide variant | not provided [RCV001505133] | Chr3:170467130 [GRCh38] Chr3:170184918 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1120C>T (p.Leu374=) | single nucleotide variant | not provided [RCV001497825] | Chr3:170481162 [GRCh38] Chr3:170198951 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1188G>A (p.Ala396=) | single nucleotide variant | not provided [RCV001415583] | Chr3:170481094 [GRCh38] Chr3:170198883 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1059C>T (p.Ser353=) | single nucleotide variant | not provided [RCV001427713] | Chr3:170483370 [GRCh38] Chr3:170201159 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1830C>G (p.Thr610=) | single nucleotide variant | not provided [RCV001398687] | Chr3:170480452 [GRCh38] Chr3:170198241 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1713G>A (p.Leu571=) | single nucleotide variant | not provided [RCV001479310] | Chr3:170480569 [GRCh38] Chr3:170198358 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2097T>C (p.Asp699=) | single nucleotide variant | not provided [RCV001441516] | Chr3:170467274 [GRCh38] Chr3:170185062 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1116-12C>T | single nucleotide variant | Retinitis pigmentosa 68 [RCV001810058]|not provided [RCV001518141] | Chr3:170481178 [GRCh38] Chr3:170198967 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.1491G>A (p.Gly497=) | single nucleotide variant | not provided [RCV001463853] | Chr3:170480791 [GRCh38] Chr3:170198580 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1848G>C (p.Leu616=) | single nucleotide variant | not provided [RCV001484051] | Chr3:170480434 [GRCh38] Chr3:170198223 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1126C>G (p.His376Asp) | single nucleotide variant | not provided [RCV001441741] | Chr3:170481156 [GRCh38] Chr3:170198945 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2093T>G (p.Val698Gly) | single nucleotide variant | not provided [RCV001895671] | Chr3:170467278 [GRCh38] Chr3:170185066 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1195G>A (p.Ala399Thr) | single nucleotide variant | not provided [RCV002045729] | Chr3:170481087 [GRCh38] Chr3:170198876 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.503G>A (p.Arg168His) | single nucleotide variant | not provided [RCV002004205] | Chr3:170501147 [GRCh38] Chr3:170218936 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2188T>C (p.Tyr730His) | single nucleotide variant | Inborn genetic diseases [RCV003166983]|not provided [RCV001896220] | Chr3:170467183 [GRCh38] Chr3:170184971 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.674G>C (p.Trp225Ser) | single nucleotide variant | not provided [RCV001969326] | Chr3:170498752 [GRCh38] Chr3:170216541 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 | copy number gain | not provided [RCV001827868] | Chr3:168118411..179867071 [GRCh37] Chr3:3q26.2-26.33 |
likely pathogenic |
NM_020949.3(SLC7A14):c.1300G>A (p.Glu434Lys) | single nucleotide variant | not provided [RCV001891974] | Chr3:170480982 [GRCh38] Chr3:170198771 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.25G>T (p.Asp9Tyr) | single nucleotide variant | not provided [RCV002024485] | Chr3:170526912 [GRCh38] Chr3:170244701 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1403G>A (p.Ser468Asn) | single nucleotide variant | not provided [RCV001965345] | Chr3:170480879 [GRCh38] Chr3:170198668 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2261A>G (p.Lys754Arg) | single nucleotide variant | not provided [RCV002044989] | Chr3:170467110 [GRCh38] Chr3:170184898 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.305G>C (p.Gly102Ala) | single nucleotide variant | not provided [RCV002003987] | Chr3:170501345 [GRCh38] Chr3:170219134 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1611T>G (p.Ile537Met) | single nucleotide variant | not provided [RCV001968874] | Chr3:170480671 [GRCh38] Chr3:170198460 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.540G>A (p.Leu180=) | single nucleotide variant | not provided [RCV002022508] | Chr3:170501110 [GRCh38] Chr3:170218899 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.5G>A (p.Ser2Asn) | single nucleotide variant | not provided [RCV002004959] | Chr3:170526932 [GRCh38] Chr3:170244721 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1066C>T (p.Pro356Ser) | single nucleotide variant | not provided [RCV002005019] | Chr3:170483363 [GRCh38] Chr3:170201152 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.481C>G (p.Leu161Val) | single nucleotide variant | not provided [RCV001911177] | Chr3:170501169 [GRCh38] Chr3:170218958 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) | copy number gain | not specified [RCV002053382] | Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
NM_020949.3(SLC7A14):c.289G>A (p.Ala97Thr) | single nucleotide variant | not provided [RCV001912015] | Chr3:170526648 [GRCh38] Chr3:170244437 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.913G>A (p.Val305Met) | single nucleotide variant | not provided [RCV001926749] | Chr3:170483516 [GRCh38] Chr3:170201305 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.67C>T (p.His23Tyr) | single nucleotide variant | not provided [RCV002044092] | Chr3:170526870 [GRCh38] Chr3:170244659 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.845A>T (p.Asn282Ile) | single nucleotide variant | not provided [RCV001986795] | Chr3:170486283 [GRCh38] Chr3:170204072 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1548G>C (p.Met516Ile) | single nucleotide variant | not provided [RCV001863303] | Chr3:170480734 [GRCh38] Chr3:170198523 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1924G>A (p.Val642Met) | single nucleotide variant | not provided [RCV001984112] | Chr3:170480358 [GRCh38] Chr3:170198147 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2183G>C (p.Gly728Ala) | single nucleotide variant | not provided [RCV002042989] | Chr3:170467188 [GRCh38] Chr3:170184976 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1996C>A (p.Leu666Met) | single nucleotide variant | not provided [RCV001890844] | Chr3:170467375 [GRCh38] Chr3:170185163 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1187C>T (p.Ala396Val) | single nucleotide variant | not provided [RCV002042814] | Chr3:170481095 [GRCh38] Chr3:170198884 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1129G>T (p.Val377Phe) | single nucleotide variant | not provided [RCV001893106] | Chr3:170481153 [GRCh38] Chr3:170198942 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1126C>T (p.His376Tyr) | single nucleotide variant | not provided [RCV001926986] | Chr3:170481156 [GRCh38] Chr3:170198945 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2221G>A (p.Gly741Ser) | single nucleotide variant | not provided [RCV001926469] | Chr3:170467150 [GRCh38] Chr3:170184938 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1675G>A (p.Ala559Thr) | single nucleotide variant | not provided [RCV002023718] | Chr3:170480607 [GRCh38] Chr3:170198396 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.50C>G (p.Ala17Gly) | single nucleotide variant | not provided [RCV002020268] | Chr3:170526887 [GRCh38] Chr3:170244676 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2020A>C (p.Ile674Leu) | single nucleotide variant | not provided [RCV001943935] | Chr3:170467351 [GRCh38] Chr3:170185139 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1026G>A (p.Ser342=) | single nucleotide variant | not provided [RCV001885493] | Chr3:170483403 [GRCh38] Chr3:170201192 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.682A>T (p.Ile228Phe) | single nucleotide variant | not provided [RCV002038073] | Chr3:170498744 [GRCh38] Chr3:170216533 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1877C>A (p.Pro626His) | single nucleotide variant | not provided [RCV001951864] | Chr3:170480405 [GRCh38] Chr3:170198194 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.644A>G (p.Asn215Ser) | single nucleotide variant | not provided [RCV001885829] | Chr3:170498782 [GRCh38] Chr3:170216571 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.148G>A (p.Ala50Thr) | single nucleotide variant | not provided [RCV002031353] | Chr3:170526789 [GRCh38] Chr3:170244578 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1648C>T (p.Leu550Phe) | single nucleotide variant | Inborn genetic diseases [RCV003365550]|not provided [RCV001923299] | Chr3:170480634 [GRCh38] Chr3:170198423 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.205A>C (p.Thr69Pro) | single nucleotide variant | not provided [RCV002037077] | Chr3:170526732 [GRCh38] Chr3:170244521 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1633A>G (p.Arg545Gly) | single nucleotide variant | not provided [RCV001979194] | Chr3:170480649 [GRCh38] Chr3:170198438 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.427T>G (p.Tyr143Asp) | single nucleotide variant | not provided [RCV002037404] | Chr3:170501223 [GRCh38] Chr3:170219012 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2145G>C (p.Glu715Asp) | single nucleotide variant | not provided [RCV002038334] | Chr3:170467226 [GRCh38] Chr3:170185014 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1399G>A (p.Val467Met) | single nucleotide variant | not provided [RCV001972187] | Chr3:170480883 [GRCh38] Chr3:170198672 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.418A>G (p.Ile140Val) | single nucleotide variant | not provided [RCV001918607] | Chr3:170501232 [GRCh38] Chr3:170219021 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.892A>G (p.Thr298Ala) | single nucleotide variant | not provided [RCV001955189] | Chr3:170486236 [GRCh38] Chr3:170204025 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.691G>T (p.Ala231Ser) | single nucleotide variant | not provided [RCV002001427] | Chr3:170498735 [GRCh38] Chr3:170216524 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1639C>T (p.Arg547Trp) | single nucleotide variant | Inborn genetic diseases [RCV003303420]|not provided [RCV001921555] | Chr3:170480643 [GRCh38] Chr3:170198432 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.696C>T (p.Gly232=) | single nucleotide variant | not provided [RCV002031925] | Chr3:170498730 [GRCh38] Chr3:170216519 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.508A>G (p.Met170Val) | single nucleotide variant | not provided [RCV001943680] | Chr3:170501142 [GRCh38] Chr3:170218931 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1813G>T (p.Val605Leu) | single nucleotide variant | not provided [RCV002019089] | Chr3:170480469 [GRCh38] Chr3:170198258 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.332G>A (p.Arg111Gln) | single nucleotide variant | not provided [RCV001962322] | Chr3:170501318 [GRCh38] Chr3:170219107 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.808A>G (p.Ile270Val) | single nucleotide variant | Inborn genetic diseases [RCV002571367]|not provided [RCV001977865] | Chr3:170486320 [GRCh38] Chr3:170204109 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2140G>A (p.Gly714Ser) | single nucleotide variant | not provided [RCV001922963] | Chr3:170467231 [GRCh38] Chr3:170185019 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.325G>C (p.Gly109Arg) | single nucleotide variant | not provided [RCV002015527] | Chr3:170501325 [GRCh38] Chr3:170219114 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.748G>A (p.Gly250Ser) | single nucleotide variant | not provided [RCV001900842] | Chr3:170498678 [GRCh38] Chr3:170216467 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.66G>A (p.Met22Ile) | single nucleotide variant | not provided [RCV001978033] | Chr3:170526871 [GRCh38] Chr3:170244660 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1046G>C (p.Ser349Thr) | single nucleotide variant | not provided [RCV001932604] | Chr3:170483383 [GRCh38] Chr3:170201172 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.599C>T (p.Thr200Ile) | single nucleotide variant | not provided [RCV001957822] | Chr3:170498827 [GRCh38] Chr3:170216616 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1102G>C (p.Gly368Arg) | single nucleotide variant | not provided [RCV002015209] | Chr3:170483327 [GRCh38] Chr3:170201116 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2047G>A (p.Ala683Thr) | single nucleotide variant | not provided [RCV002015281] | Chr3:170467324 [GRCh38] Chr3:170185112 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.308T>C (p.Val103Ala) | single nucleotide variant | not provided [RCV001881896] | Chr3:170501342 [GRCh38] Chr3:170219131 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.885C>G (p.Ile295Met) | single nucleotide variant | not provided [RCV001976199] | Chr3:170486243 [GRCh38] Chr3:170204032 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1237A>G (p.Ile413Val) | single nucleotide variant | not provided [RCV002033182] | Chr3:170481045 [GRCh38] Chr3:170198834 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1463C>A (p.Ser488Tyr) | single nucleotide variant | not provided [RCV002014884] | Chr3:170480819 [GRCh38] Chr3:170198608 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.468C>A (p.Ser156Arg) | single nucleotide variant | not provided [RCV001901377] | Chr3:170501182 [GRCh38] Chr3:170218971 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.527C>A (p.Thr176Asn) | single nucleotide variant | not provided [RCV001903632] | Chr3:170501123 [GRCh38] Chr3:170218912 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2141G>A (p.Gly714Asp) | single nucleotide variant | not provided [RCV001877409] | Chr3:170467230 [GRCh38] Chr3:170185018 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1631T>C (p.Met544Thr) | single nucleotide variant | not provided [RCV001951760] | Chr3:170480651 [GRCh38] Chr3:170198440 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.364T>C (p.Tyr122His) | single nucleotide variant | not provided [RCV001996531] | Chr3:170501286 [GRCh38] Chr3:170219075 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1508C>T (p.Thr503Ile) | single nucleotide variant | not provided [RCV002010704] | Chr3:170480774 [GRCh38] Chr3:170198563 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2011G>C (p.Gly671Arg) | single nucleotide variant | not provided [RCV002031951] | Chr3:170467360 [GRCh38] Chr3:170185148 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2131G>A (p.Ala711Thr) | single nucleotide variant | not provided [RCV002018389] | Chr3:170467240 [GRCh38] Chr3:170185028 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1977G>A (p.Ala659=) | single nucleotide variant | not provided [RCV002036263] | Chr3:170480305 [GRCh38] Chr3:170198094 [GRCh37] Chr3:3q26.2 |
likely benign|uncertain significance |
NM_020949.3(SLC7A14):c.2107T>C (p.Ser703Pro) | single nucleotide variant | not provided [RCV002013329] | Chr3:170467264 [GRCh38] Chr3:170185052 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.128C>T (p.Thr43Met) | single nucleotide variant | not provided [RCV001907130] | Chr3:170526809 [GRCh38] Chr3:170244598 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.906T>C (p.Ser302=) | single nucleotide variant | not provided [RCV001883498] | Chr3:170486222 [GRCh38] Chr3:170204011 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.512C>T (p.Ala171Val) | single nucleotide variant | not provided [RCV001885492] | Chr3:170501138 [GRCh38] Chr3:170218927 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.392T>C (p.Val131Ala) | single nucleotide variant | Inborn genetic diseases [RCV002548753]|not provided [RCV002016856] | Chr3:170501258 [GRCh38] Chr3:170219047 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1439C>T (p.Thr480Ile) | single nucleotide variant | not provided [RCV001879669] | Chr3:170480843 [GRCh38] Chr3:170198632 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.155dup (p.Leu53fs) | duplication | not provided [RCV001885577] | Chr3:170526781..170526782 [GRCh38] Chr3:170244570..170244571 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.341A>G (p.Lys114Arg) | single nucleotide variant | not provided [RCV001961349] | Chr3:170501309 [GRCh38] Chr3:170219098 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.512C>A (p.Ala171Glu) | single nucleotide variant | not provided [RCV001961378] | Chr3:170501138 [GRCh38] Chr3:170218927 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2078A>T (p.Tyr693Phe) | single nucleotide variant | not provided [RCV001878645] | Chr3:170467293 [GRCh38] Chr3:170185081 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1294C>G (p.Gln432Glu) | single nucleotide variant | not provided [RCV001996761] | Chr3:170480988 [GRCh38] Chr3:170198777 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1454A>G (p.Asn485Ser) | single nucleotide variant | not provided [RCV001903580] | Chr3:170480828 [GRCh38] Chr3:170198617 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.83G>C (p.Arg28Pro) | single nucleotide variant | Inborn genetic diseases [RCV002573460]|not provided [RCV001998245] | Chr3:170526854 [GRCh38] Chr3:170244643 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.68A>G (p.His23Arg) | single nucleotide variant | Inborn genetic diseases [RCV002555674]|not provided [RCV001907006] | Chr3:170526869 [GRCh38] Chr3:170244658 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.710A>G (p.Asn237Ser) | single nucleotide variant | Inborn genetic diseases [RCV002555635]|not provided [RCV001925087] | Chr3:170498716 [GRCh38] Chr3:170216505 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2131G>T (p.Ala711Ser) | single nucleotide variant | not provided [RCV002010574] | Chr3:170467240 [GRCh38] Chr3:170185028 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1547T>G (p.Met516Arg) | single nucleotide variant | not provided [RCV002010940] | Chr3:170480735 [GRCh38] Chr3:170198524 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1091T>C (p.Met364Thr) | single nucleotide variant | not provided [RCV002049081] | Chr3:170483338 [GRCh38] Chr3:170201127 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1164C>A (p.Cys388Ter) | single nucleotide variant | not provided [RCV001880493] | Chr3:170481118 [GRCh38] Chr3:170198907 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.848C>T (p.Thr283Met) | single nucleotide variant | Inborn genetic diseases [RCV002555422]|not provided [RCV001935382] | Chr3:170486280 [GRCh38] Chr3:170204069 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.542-15G>A | single nucleotide variant | not provided [RCV002210479] | Chr3:170498899 [GRCh38] Chr3:170216688 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.765G>T (p.Leu255=) | single nucleotide variant | not provided [RCV002185023] | Chr3:170486363 [GRCh38] Chr3:170204152 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1194C>T (p.Leu398=) | single nucleotide variant | not provided [RCV002111304] | Chr3:170481088 [GRCh38] Chr3:170198877 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1968C>T (p.Ile656=) | single nucleotide variant | not provided [RCV002169175] | Chr3:170480314 [GRCh38] Chr3:170198103 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1719C>T (p.Phe573=) | single nucleotide variant | not provided [RCV002186898] | Chr3:170480563 [GRCh38] Chr3:170198352 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1758T>A (p.Gly586=) | single nucleotide variant | not provided [RCV002090631] | Chr3:170480524 [GRCh38] Chr3:170198313 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.906+13T>C | single nucleotide variant | not provided [RCV002205734] | Chr3:170486209 [GRCh38] Chr3:170203998 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1068G>A (p.Pro356=) | single nucleotide variant | not provided [RCV002126128] | Chr3:170483361 [GRCh38] Chr3:170201150 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1332G>A (p.Leu444=) | single nucleotide variant | not provided [RCV002146181] | Chr3:170480950 [GRCh38] Chr3:170198739 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1572A>G (p.Glu524=) | single nucleotide variant | not provided [RCV002085784] | Chr3:170480710 [GRCh38] Chr3:170198499 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.912C>T (p.Ser304=) | single nucleotide variant | not provided [RCV002189331] | Chr3:170483517 [GRCh38] Chr3:170201306 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2163C>T (p.Gly721=) | single nucleotide variant | not provided [RCV002084724] | Chr3:170467208 [GRCh38] Chr3:170184996 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1023G>T (p.Gly341=) | single nucleotide variant | not provided [RCV002168689] | Chr3:170483406 [GRCh38] Chr3:170201195 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.726G>C (p.Ala242=) | single nucleotide variant | not provided [RCV002146033] | Chr3:170498700 [GRCh38] Chr3:170216489 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.907-9T>C | single nucleotide variant | not provided [RCV002096834] | Chr3:170483531 [GRCh38] Chr3:170201320 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.690C>T (p.Ile230=) | single nucleotide variant | not provided [RCV002095394] | Chr3:170498736 [GRCh38] Chr3:170216525 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2088C>T (p.Tyr696=) | single nucleotide variant | not provided [RCV002093537] | Chr3:170467283 [GRCh38] Chr3:170185071 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1824C>T (p.Ile608=) | single nucleotide variant | not provided [RCV002152642] | Chr3:170480458 [GRCh38] Chr3:170198247 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.894A>G (p.Thr298=) | single nucleotide variant | not provided [RCV002195438] | Chr3:170486234 [GRCh38] Chr3:170204023 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.900T>C (p.Tyr300=) | single nucleotide variant | not provided [RCV002194172] | Chr3:170486228 [GRCh38] Chr3:170204017 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.759+12C>G | single nucleotide variant | not provided [RCV002131186] | Chr3:170498655 [GRCh38] Chr3:170216444 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1020T>C (p.Ile340=) | single nucleotide variant | not provided [RCV002212008] | Chr3:170483409 [GRCh38] Chr3:170201198 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.849G>A (p.Thr283=) | single nucleotide variant | not provided [RCV002079307] | Chr3:170486279 [GRCh38] Chr3:170204068 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.760-10_760-9delinsTC | indel | not provided [RCV002141324] | Chr3:170486377..170486378 [GRCh38] Chr3:170204166..170204167 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.759+17C>T | single nucleotide variant | not provided [RCV002181460] | Chr3:170498650 [GRCh38] Chr3:170216439 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.513G>A (p.Ala171=) | single nucleotide variant | not provided [RCV002164051] | Chr3:170501137 [GRCh38] Chr3:170218926 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.528C>A (p.Thr176=) | single nucleotide variant | not provided [RCV002084453] | Chr3:170501122 [GRCh38] Chr3:170218911 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2136A>C (p.Thr712=) | single nucleotide variant | not provided [RCV002081418] | Chr3:170467235 [GRCh38] Chr3:170185023 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.305-8C>T | single nucleotide variant | not provided [RCV002100184] | Chr3:170501353 [GRCh38] Chr3:170219142 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1107C>T (p.Leu369=) | single nucleotide variant | not provided [RCV002178519] | Chr3:170483322 [GRCh38] Chr3:170201111 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.534T>C (p.Asn178=) | single nucleotide variant | not provided [RCV002175228] | Chr3:170501116 [GRCh38] Chr3:170218905 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1161C>T (p.Ala387=) | single nucleotide variant | not provided [RCV002159518] | Chr3:170481121 [GRCh38] Chr3:170198910 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1115+11T>C | single nucleotide variant | not provided [RCV002156288] | Chr3:170483303 [GRCh38] Chr3:170201092 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1875G>A (p.Leu625=) | single nucleotide variant | not provided [RCV002141377] | Chr3:170480407 [GRCh38] Chr3:170198196 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.99G>T (p.Glu33Asp) | single nucleotide variant | not provided [RCV002082865] | Chr3:170526838 [GRCh38] Chr3:170244627 [GRCh37] Chr3:3q26.2 |
benign |
NC_000003.11:g.(?_170244402)_(170244725_?)dup | duplication | not provided [RCV003109786] | Chr3:170244402..170244725 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NC_000003.11:g.(?_170184843)_(170244725_?)dup | duplication | not provided [RCV003109787] | Chr3:170184843..170244725 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NC_000003.11:g.(?_168802697)_(172835521_?)dup | duplication | Fanconi-Bickel syndrome [RCV003111067] | Chr3:168802697..172835521 [GRCh37] Chr3:3q26.2-26.31 |
uncertain significance |
NM_020949.3(SLC7A14):c.1337A>G (p.Glu446Gly) | single nucleotide variant | not provided [RCV002296963] | Chr3:170480945 [GRCh38] Chr3:170198734 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1355A>T (p.Lys452Met) | single nucleotide variant | Inborn genetic diseases [RCV003304933] | Chr3:170480927 [GRCh38] Chr3:170198716 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1941G>C (p.Met647Ile) | single nucleotide variant | not provided [RCV002303335] | Chr3:170480341 [GRCh38] Chr3:170198130 [GRCh37] Chr3:3q26.2 |
uncertain significance |
GRCh37/hg19 3q26.2(chr3:170201971-170426609)x1 | copy number loss | not provided [RCV002473527] | Chr3:170201971..170426609 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.88A>G (p.Lys30Glu) | single nucleotide variant | not provided [RCV002305226] | Chr3:170526849 [GRCh38] Chr3:170244638 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1372G>A (p.Asp458Asn) | single nucleotide variant | not provided [RCV002305250] | Chr3:170480910 [GRCh38] Chr3:170198699 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1177T>C (p.Phe393Leu) | single nucleotide variant | not provided [RCV002301298] | Chr3:170481105 [GRCh38] Chr3:170198894 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1604A>G (p.Lys535Arg) | single nucleotide variant | not provided [RCV002298093] | Chr3:170480678 [GRCh38] Chr3:170198467 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.29C>T (p.Pro10Leu) | single nucleotide variant | not provided [RCV002298217] | Chr3:170526908 [GRCh38] Chr3:170244697 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.92C>A (p.Pro31Gln) | single nucleotide variant | not provided [RCV002972133] | Chr3:170526845 [GRCh38] Chr3:170244634 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.167T>A (p.Val56Glu) | single nucleotide variant | not provided [RCV002750239] | Chr3:170526770 [GRCh38] Chr3:170244559 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.191G>A (p.Gly64Asp) | single nucleotide variant | not provided [RCV002815673] | Chr3:170526746 [GRCh38] Chr3:170244535 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.673T>C (p.Trp225Arg) | single nucleotide variant | not provided [RCV002994200] | Chr3:170498753 [GRCh38] Chr3:170216542 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1858G>T (p.Glu620Ter) | single nucleotide variant | not provided [RCV002838127] | Chr3:170480424 [GRCh38] Chr3:170198213 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1946A>G (p.Lys649Arg) | single nucleotide variant | not provided [RCV002685505] | Chr3:170480336 [GRCh38] Chr3:170198125 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1994-9G>C | single nucleotide variant | not provided [RCV003098895] | Chr3:170467386 [GRCh38] Chr3:170185174 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.350G>C (p.Gly117Ala) | single nucleotide variant | not provided [RCV002996455] | Chr3:170501300 [GRCh38] Chr3:170219089 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.414C>T (p.Asn138=) | single nucleotide variant | not provided [RCV002685433] | Chr3:170501236 [GRCh38] Chr3:170219025 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2224C>T (p.Arg742Trp) | single nucleotide variant | not provided [RCV002617584] | Chr3:170467147 [GRCh38] Chr3:170184935 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1969C>T (p.Arg657Trp) | single nucleotide variant | Inborn genetic diseases [RCV002778337] | Chr3:170480313 [GRCh38] Chr3:170198102 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.955G>A (p.Glu319Lys) | single nucleotide variant | not provided [RCV002903213] | Chr3:170483474 [GRCh38] Chr3:170201263 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.384G>A (p.Gly128=) | single nucleotide variant | not provided [RCV002730671] | Chr3:170501266 [GRCh38] Chr3:170219055 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1441T>G (p.Cys481Gly) | single nucleotide variant | not provided [RCV003016217] | Chr3:170480841 [GRCh38] Chr3:170198630 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.542-17del | deletion | not provided [RCV003014041] | Chr3:170498901 [GRCh38] Chr3:170216690 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.568C>T (p.Leu190Phe) | single nucleotide variant | not provided [RCV003015002] | Chr3:170498858 [GRCh38] Chr3:170216647 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1764C>T (p.Asp588=) | single nucleotide variant | not provided [RCV003032644] | Chr3:170480518 [GRCh38] Chr3:170198307 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1009G>A (p.Val337Ile) | single nucleotide variant | not provided [RCV003098923] | Chr3:170483420 [GRCh38] Chr3:170201209 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.284C>T (p.Ala95Val) | single nucleotide variant | Inborn genetic diseases [RCV002753646] | Chr3:170526653 [GRCh38] Chr3:170244442 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.379G>A (p.Val127Ile) | single nucleotide variant | Inborn genetic diseases [RCV002715150]|not provided [RCV002690275] | Chr3:170501271 [GRCh38] Chr3:170219060 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1647C>T (p.Gly549=) | single nucleotide variant | not provided [RCV002617983] | Chr3:170480635 [GRCh38] Chr3:170198424 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2196A>G (p.Gln732=) | single nucleotide variant | not provided [RCV002617517] | Chr3:170467175 [GRCh38] Chr3:170184963 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.245T>C (p.Met82Thr) | single nucleotide variant | not provided [RCV002591018] | Chr3:170526692 [GRCh38] Chr3:170244481 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.589G>A (p.Val197Ile) | single nucleotide variant | not provided [RCV003039576] | Chr3:170498837 [GRCh38] Chr3:170216626 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.154G>A (p.Val52Ile) | single nucleotide variant | not provided [RCV002926748] | Chr3:170526783 [GRCh38] Chr3:170244572 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.893C>T (p.Thr298Ile) | single nucleotide variant | not provided [RCV002621951] | Chr3:170486235 [GRCh38] Chr3:170204024 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1408G>A (p.Gly470Arg) | single nucleotide variant | not provided [RCV002572138] | Chr3:170480874 [GRCh38] Chr3:170198663 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1691C>T (p.Thr564Met) | single nucleotide variant | Inborn genetic diseases [RCV002720017]|not provided [RCV002695442] | Chr3:170480591 [GRCh38] Chr3:170198380 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.97G>A (p.Glu33Lys) | single nucleotide variant | not provided [RCV002659121] | Chr3:170526840 [GRCh38] Chr3:170244629 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.252A>G (p.Gly84=) | single nucleotide variant | not provided [RCV002914073] | Chr3:170526685 [GRCh38] Chr3:170244474 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1686G>A (p.Gly562=) | single nucleotide variant | not provided [RCV003018378] | Chr3:170480596 [GRCh38] Chr3:170198385 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.489C>A (p.Asn163Lys) | single nucleotide variant | not provided [RCV003018055] | Chr3:170501161 [GRCh38] Chr3:170218950 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1144G>A (p.Glu382Lys) | single nucleotide variant | not provided [RCV002820490] | Chr3:170481138 [GRCh38] Chr3:170198927 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2186T>G (p.Phe729Cys) | single nucleotide variant | not provided [RCV002735495] | Chr3:170467185 [GRCh38] Chr3:170184973 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1101C>T (p.Asp367=) | single nucleotide variant | not provided [RCV002780519] | Chr3:170483328 [GRCh38] Chr3:170201117 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.402C>T (p.Phe134=) | single nucleotide variant | not provided [RCV002622611] | Chr3:170501248 [GRCh38] Chr3:170219037 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2163C>A (p.Gly721=) | single nucleotide variant | not provided [RCV002706241] | Chr3:170467208 [GRCh38] Chr3:170184996 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1913T>C (p.Phe638Ser) | single nucleotide variant | Inborn genetic diseases [RCV002799373] | Chr3:170480369 [GRCh38] Chr3:170198158 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1966A>T (p.Ile656Phe) | single nucleotide variant | Inborn genetic diseases [RCV002844881] | Chr3:170480316 [GRCh38] Chr3:170198105 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.906+13T>G | single nucleotide variant | not provided [RCV002927282] | Chr3:170486209 [GRCh38] Chr3:170203998 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1263G>C (p.Leu421Phe) | single nucleotide variant | not provided [RCV002621703] | Chr3:170481019 [GRCh38] Chr3:170198808 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1116-15G>A | single nucleotide variant | not provided [RCV002597174] | Chr3:170481181 [GRCh38] Chr3:170198970 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1310T>C (p.Ile437Thr) | single nucleotide variant | not provided [RCV002710897] | Chr3:170480972 [GRCh38] Chr3:170198761 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2225G>A (p.Arg742Gln) | single nucleotide variant | not provided [RCV002668025] | Chr3:170467146 [GRCh38] Chr3:170184934 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1932C>A (p.Ile644=) | single nucleotide variant | not provided [RCV002596976] | Chr3:170480350 [GRCh38] Chr3:170198139 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.627T>G (p.Asn209Lys) | single nucleotide variant | not provided [RCV003040299] | Chr3:170498799 [GRCh38] Chr3:170216588 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2232T>G (p.Ser744Arg) | single nucleotide variant | not provided [RCV002576236] | Chr3:170467139 [GRCh38] Chr3:170184927 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1458A>T (p.Leu486Phe) | single nucleotide variant | not provided [RCV003056221] | Chr3:170480824 [GRCh38] Chr3:170198613 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1994-10C>T | single nucleotide variant | not provided [RCV002741054] | Chr3:170467387 [GRCh38] Chr3:170185175 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.93A>G (p.Pro31=) | single nucleotide variant | not provided [RCV003043400] | Chr3:170526844 [GRCh38] Chr3:170244633 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2016T>C (p.Tyr672=) | single nucleotide variant | not provided [RCV002876457] | Chr3:170467355 [GRCh38] Chr3:170185143 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2046C>T (p.Ser682=) | single nucleotide variant | not provided [RCV002741643] | Chr3:170467325 [GRCh38] Chr3:170185113 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1764_1765del (p.Asp588fs) | deletion | not provided [RCV002894800] | Chr3:170480517..170480518 [GRCh38] Chr3:170198306..170198307 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.542-17A>G | single nucleotide variant | not provided [RCV002667905] | Chr3:170498901 [GRCh38] Chr3:170216690 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1347C>A (p.Thr449=) | single nucleotide variant | not provided [RCV002594640] | Chr3:170480935 [GRCh38] Chr3:170198724 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2187C>G (p.Phe729Leu) | single nucleotide variant | not provided [RCV003006417] | Chr3:170467184 [GRCh38] Chr3:170184972 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1017C>A (p.Ala339=) | single nucleotide variant | not provided [RCV003059151] | Chr3:170483412 [GRCh38] Chr3:170201201 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1494del (p.Lys498fs) | deletion | not provided [RCV003022444] | Chr3:170480788 [GRCh38] Chr3:170198577 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.872C>A (p.Ala291Asp) | single nucleotide variant | not provided [RCV003040742] | Chr3:170486256 [GRCh38] Chr3:170204045 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1146G>T (p.Glu382Asp) | single nucleotide variant | Inborn genetic diseases [RCV002873860] | Chr3:170481136 [GRCh38] Chr3:170198925 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.813C>T (p.Ile271=) | single nucleotide variant | not provided [RCV002575362] | Chr3:170486315 [GRCh38] Chr3:170204104 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1810del (p.Met604fs) | deletion | not provided [RCV003065887] | Chr3:170480472 [GRCh38] Chr3:170198261 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.833C>A (p.Ala278Asp) | single nucleotide variant | not provided [RCV002720119] | Chr3:170486295 [GRCh38] Chr3:170204084 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.743C>T (p.Pro248Leu) | single nucleotide variant | Inborn genetic diseases [RCV002602044]|not provided [RCV002602045] | Chr3:170498683 [GRCh38] Chr3:170216472 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.305-7C>T | single nucleotide variant | not provided [RCV003029585] | Chr3:170501352 [GRCh38] Chr3:170219141 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2058G>A (p.Glu686=) | single nucleotide variant | not provided [RCV002630181] | Chr3:170467313 [GRCh38] Chr3:170185101 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1993+15T>C | single nucleotide variant | not provided [RCV002671142] | Chr3:170480274 [GRCh38] Chr3:170198063 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1671C>A (p.Pro557=) | single nucleotide variant | not provided [RCV003027461] | Chr3:170480611 [GRCh38] Chr3:170198400 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.304+15G>A | single nucleotide variant | not provided [RCV002649407] | Chr3:170526618 [GRCh38] Chr3:170244407 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.682A>G (p.Ile228Val) | single nucleotide variant | not provided [RCV002746463] | Chr3:170498744 [GRCh38] Chr3:170216533 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1131C>G (p.Val377=) | single nucleotide variant | not provided [RCV002720415] | Chr3:170481151 [GRCh38] Chr3:170198940 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.378T>C (p.Thr126=) | single nucleotide variant | not provided [RCV003047923] | Chr3:170501272 [GRCh38] Chr3:170219061 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.794T>C (p.Phe265Ser) | single nucleotide variant | Inborn genetic diseases [RCV002940185] | Chr3:170486334 [GRCh38] Chr3:170204123 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.760-9T>A | single nucleotide variant | not provided [RCV002745983] | Chr3:170486377 [GRCh38] Chr3:170204166 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.2050C>T (p.Arg684Ter) | single nucleotide variant | not provided [RCV002646461] | Chr3:170467321 [GRCh38] Chr3:170185109 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.305-17A>G | single nucleotide variant | not provided [RCV002580215] | Chr3:170501362 [GRCh38] Chr3:170219151 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.64A>G (p.Met22Val) | single nucleotide variant | not provided [RCV002631540] | Chr3:170526873 [GRCh38] Chr3:170244662 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2089G>A (p.Asp697Asn) | single nucleotide variant | Inborn genetic diseases [RCV003167636]|not provided [RCV002715046] | Chr3:170467282 [GRCh38] Chr3:170185070 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1116-11G>A | single nucleotide variant | not provided [RCV002578439] | Chr3:170481177 [GRCh38] Chr3:170198966 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1199T>C (p.Leu400Pro) | single nucleotide variant | Inborn genetic diseases [RCV002939998] | Chr3:170481083 [GRCh38] Chr3:170198872 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1994-12del | deletion | not provided [RCV002649786] | Chr3:170467389 [GRCh38] Chr3:170185177 [GRCh37] Chr3:3q26.2 |
benign |
NM_020949.3(SLC7A14):c.2071A>G (p.Ser691Gly) | single nucleotide variant | not provided [RCV003047997] | Chr3:170467300 [GRCh38] Chr3:170185088 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.497T>C (p.Ile166Thr) | single nucleotide variant | not provided [RCV002632281] | Chr3:170501153 [GRCh38] Chr3:170218942 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.445G>A (p.Ala149Thr) | single nucleotide variant | not provided [RCV002636037] | Chr3:170501205 [GRCh38] Chr3:170218994 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.282_284dup (p.Ala95_Val96insAla) | duplication | not provided [RCV003032232] | Chr3:170526652..170526653 [GRCh38] Chr3:170244441..170244442 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.305-19del | deletion | not provided [RCV002635674] | Chr3:170501364 [GRCh38] Chr3:170219153 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1924G>T (p.Val642Leu) | single nucleotide variant | not provided [RCV002721472] | Chr3:170480358 [GRCh38] Chr3:170198147 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.588G>A (p.Ala196=) | single nucleotide variant | not provided [RCV002605575] | Chr3:170498838 [GRCh38] Chr3:170216627 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.305-2A>G | single nucleotide variant | not provided [RCV002586668] | Chr3:170501347 [GRCh38] Chr3:170219136 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1362C>A (p.Gly454=) | single nucleotide variant | not provided [RCV002584548] | Chr3:170480920 [GRCh38] Chr3:170198709 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.418A>T (p.Ile140Phe) | single nucleotide variant | not provided [RCV002590064] | Chr3:170501232 [GRCh38] Chr3:170219021 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.453C>T (p.Ala151=) | single nucleotide variant | not provided [RCV002635997] | Chr3:170501197 [GRCh38] Chr3:170218986 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.1803T>C (p.Val601=) | single nucleotide variant | not provided [RCV002609062] | Chr3:170480479 [GRCh38] Chr3:170198268 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.945C>G (p.Thr315=) | single nucleotide variant | not provided [RCV002613082] | Chr3:170483484 [GRCh38] Chr3:170201273 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.158T>C (p.Leu53Pro) | single nucleotide variant | not provided [RCV002610332] | Chr3:170526779 [GRCh38] Chr3:170244568 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2051G>A (p.Arg684Gln) | single nucleotide variant | not provided [RCV002589868] | Chr3:170467320 [GRCh38] Chr3:170185108 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.968T>C (p.Met323Thr) | single nucleotide variant | not provided [RCV002634442] | Chr3:170483461 [GRCh38] Chr3:170201250 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.92C>T (p.Pro31Leu) | single nucleotide variant | Inborn genetic diseases [RCV003261512] | Chr3:170526845 [GRCh38] Chr3:170244634 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.295A>G (p.Ile99Val) | single nucleotide variant | Inborn genetic diseases [RCV003174879] | Chr3:170526642 [GRCh38] Chr3:170244431 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.516C>G (p.Asp172Glu) | single nucleotide variant | Inborn genetic diseases [RCV003381304] | Chr3:170501134 [GRCh38] Chr3:170218923 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1739G>T (p.Cys580Phe) | single nucleotide variant | Inborn genetic diseases [RCV003372270] | Chr3:170480543 [GRCh38] Chr3:170198332 [GRCh37] Chr3:3q26.2 |
uncertain significance |
Single allele | duplication | not provided [RCV003448680] | Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29 |
pathogenic |
NM_020949.3(SLC7A14):c.1631T>A (p.Met544Lys) | single nucleotide variant | not provided [RCV003573604] | Chr3:170480651 [GRCh38] Chr3:170198440 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.2075C>T (p.Thr692Met) | single nucleotide variant | not provided [RCV003661449] | Chr3:170467296 [GRCh38] Chr3:170185084 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.517A>T (p.Ser173Cys) | single nucleotide variant | not provided [RCV003688470] | Chr3:170501133 [GRCh38] Chr3:170218922 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.443C>T (p.Ala148Val) | single nucleotide variant | not provided [RCV003547013] | Chr3:170501207 [GRCh38] Chr3:170218996 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.907-12_907-11del | deletion | not provided [RCV003575804] | Chr3:170483533..170483534 [GRCh38] Chr3:170201322..170201323 [GRCh37] Chr3:3q26.2 |
likely benign |
NM_020949.3(SLC7A14):c.407G>A (p.Gly136Asp) | single nucleotide variant | not provided [RCV003574229] | Chr3:170501243 [GRCh38] Chr3:170219032 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.931G>C (p.Val311Leu) | single nucleotide variant | not provided [RCV003546318] | Chr3:170483498 [GRCh38] Chr3:170201287 [GRCh37] Chr3:3q26.2 |
uncertain significance |
NM_020949.3(SLC7A14):c.1482del (p.Met494fs) | deletion | not provided [RCV003575447] | Chr3:170480800 [GRCh38] Chr3:170198589 [GRCh37] Chr3:3q26.2 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D3S3723 |
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D3S1564 |
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RH78995 |
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RH123089 |
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SHGC-105847 |
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SHGC-142944 |
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SHGC-144148 |
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D15S1477 |
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D11S2560 |
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D8S2279 |
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D3S1564 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 1 | 199 | 1021 | 1 | 4 | 39 | 1 | ||||||||||
Low | 739 | 2 | 134 | 7 | 51 | 7 | 130 | 189 | 1957 | 32 | 122 | 37 | 1 | 1 | 2 | 13 | |
Below cutoff | 1588 | 2157 | 1041 | 399 | 839 | 249 | 3652 | 1608 | 750 | 263 | 1164 | 1278 | 161 | 1148 | 2320 | 3 |
RefSeq Acc Id: | ENST00000231706 ⟹ ENSP00000231706 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000466168 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_020949 ⟹ NP_066000 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_066000 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH22968 | (Get FASTA) | NCBI Sequence Viewer |
BAB13439 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53645 | (Get FASTA) | NCBI Sequence Viewer | |
EAW78510 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000231706 | ||
ENSP00000231706.4 | |||
GenBank Protein | Q8TBB6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_066000 ⟸ NM_020949 |
- UniProtKB: | B3KV33 (UniProtKB/Swiss-Prot), Q9HCF9 (UniProtKB/Swiss-Prot), Q8TBB6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000231706 ⟸ ENST00000231706 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8TBB6-F1-model_v2 | AlphaFold | Q8TBB6 | 1-771 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:29326 | AgrOrtholog |
COSMIC | SLC7A14 | COSMIC |
Ensembl Genes | ENSG00000013293 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000231706 | ENTREZGENE |
ENST00000231706.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Amino acid/polyamine transporter I | UniProtKB/Swiss-Prot |
GTEx | ENSG00000013293 | GTEx |
HGNC ID | HGNC:29326 | ENTREZGENE |
Human Proteome Map | SLC7A14 | Human Proteome Map |
InterPro | AA/rel_permease1 | UniProtKB/Swiss-Prot |
CAT_C | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:57709 | UniProtKB/Swiss-Prot |
NCBI Gene | 57709 | ENTREZGENE |
OMIM | 615720 | OMIM |
PANTHER | CATIONIC AMINO ACID TRANSPORTER-RELATED | UniProtKB/Swiss-Prot |
INNER MEMBRANE TRANSPORTER YGJI-RELATED | UniProtKB/Swiss-Prot | |
Pfam | AA_permease_2 | UniProtKB/Swiss-Prot |
AA_permease_C | UniProtKB/Swiss-Prot | |
PharmGKB | PA142670913 | PharmGKB |
UniProt | B3KV33 | ENTREZGENE |
Q8TBB6 | ENTREZGENE | |
Q9HCF9 | ENTREZGENE | |
S7A14_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B3KV33 | UniProtKB/Swiss-Prot |
Q9HCF9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-15 | SLC7A14 | solute carrier family 7 member 14 | solute carrier family 7, member 14 | Symbol and/or name change | 5135510 | APPROVED | |
2013-07-23 | SLC7A14 | solute carrier family 7, member 14 | solute carrier family 7 (orphan transporter), member 14 | Symbol and/or name change | 5135510 | APPROVED | |
2011-07-27 | SLC7A14 | solute carrier family 7 (orphan transporter), member 14 | SLC7A14 | solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 | Symbol and/or name change | 5135510 | APPROVED |