Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive limb-girdle muscular dystrophy type 2Y | | 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) | autosomal recessive limb-girdle muscular dystrophy type 2Y | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8324822 | PMID:9305626 | PMID:12061773 | PMID:12477932 | PMID:14702039 | PMID:15146197 | PMID:15489334 | PMID:15767459 | PMID:16248985 | PMID:16361107 | PMID:16710414 | PMID:17081983 |
PMID:19322201 | PMID:19382019 | PMID:19454010 | PMID:19651773 | PMID:20360068 | PMID:20861018 | PMID:21044950 | PMID:21873635 | PMID:22321011 | PMID:22365922 | PMID:22412018 | PMID:22751105 |
PMID:22939629 | PMID:23080069 | PMID:23569223 | PMID:24116158 | PMID:24275647 | PMID:24623722 | PMID:24711643 | PMID:24797263 | PMID:24856141 | PMID:25149450 | PMID:25281560 | PMID:25323962 |
PMID:25352667 | PMID:25693804 | PMID:25921289 | PMID:26186194 | PMID:26496610 | PMID:26638075 | PMID:26972000 | PMID:27342126 | PMID:28110863 | PMID:28225217 | PMID:28380382 | PMID:28514442 |
PMID:28692057 | PMID:28712289 | PMID:29395067 | PMID:29507755 | PMID:29509190 | PMID:29568061 | PMID:30021884 | PMID:30194290 | PMID:30344098 | PMID:30442662 | PMID:30723199 | PMID:30804502 |
PMID:30948266 | PMID:31056421 | PMID:31073040 | PMID:31091453 | PMID:31177093 | PMID:31478661 | PMID:31586073 | PMID:31732153 | PMID:31871319 | PMID:31980649 | PMID:32055997 | PMID:32203420 |
PMID:32344865 | PMID:32353859 | PMID:32457219 | PMID:32572027 | PMID:32687490 | PMID:32788342 | PMID:32814053 | PMID:32877691 | PMID:32994395 | PMID:33060197 | PMID:33111431 | PMID:33277362 |
PMID:33536335 | PMID:33545068 | PMID:33766124 | PMID:33916271 | PMID:33957083 | PMID:33961781 | PMID:34079125 | PMID:34369648 | PMID:34432599 | PMID:34672954 | PMID:34702444 | PMID:34709727 |
PMID:35022314 | PMID:35032548 | PMID:35198878 | PMID:35241646 | PMID:35253629 | PMID:35256949 | PMID:35271311 | PMID:35384245 | PMID:35439318 | PMID:35696571 | PMID:35831314 | PMID:35844135 |
PMID:35850772 | PMID:35944360 | PMID:36180527 | PMID:36215168 | PMID:36373674 | PMID:36610398 | PMID:37108075 | PMID:37232246 | PMID:37774976 | PMID:37827155 | PMID:37931956 | PMID:38117590 |
TOR1AIP1 (Homo sapiens - human) |
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Tor1aip1 (Mus musculus - house mouse) |
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Tor1aip1 (Rattus norvegicus - Norway rat) |
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Tor1aip1 (Chinchilla lanigera - long-tailed chinchilla) |
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TOR1AIP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TOR1AIP1 (Canis lupus familiaris - dog) |
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Tor1aip1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TOR1AIP1 (Sus scrofa - pig) |
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TOR1AIP1 (Chlorocebus sabaeus - green monkey) |
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Tor1aip1 (Heterocephalus glaber - naked mole-rat) |
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Variants in TOR1AIP1
391 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_015602.4(TOR1AIP1):c.301G>A (p.Glu101Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000543530] | Chr1:179882803 [GRCh38] Chr1:179851938 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000550453]|TOR1AIP1-related condition [RCV003952884]|not provided [RCV001547641] | Chr1:179882572 [GRCh38] Chr1:179851707 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_015602.4(TOR1AIP1):c.246A>T (p.Gly82=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000543334] | Chr1:179882748 [GRCh38] Chr1:179851883 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_015602.4(TOR1AIP1):c.964+1G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000526798]|not provided [RCV001683592] | Chr1:179914055 [GRCh38] Chr1:179883190 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 | copy number loss | See cases [RCV000051221] | Chr1:175035040..186042595 [GRCh38] Chr1:175004176..186011727 [GRCh37] Chr1:173270799..184278350 [NCBI36] Chr1:1q25.1-31.1 |
pathogenic |
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 | copy number gain | See cases [RCV000051856] | Chr1:164922655..180061589 [GRCh38] Chr1:164891892..180030724 [GRCh37] Chr1:163158516..178297347 [NCBI36] Chr1:1q23.3-25.2 |
pathogenic |
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 | copy number loss | See cases [RCV000053948] | Chr1:179032905..199724897 [GRCh38] Chr1:179002040..199694025 [GRCh37] Chr1:177268663..197960648 [NCBI36] Chr1:1q25.2-32.1 |
pathogenic |
NM_015602.4(TOR1AIP1):c.327G>C (p.Arg109Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001231057] | Chr1:179882829 [GRCh38] Chr1:179851964 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.610+295_610+298del | deletion | not provided [RCV001545397] | Chr1:179889653..179889656 [GRCh38] Chr1:179858788..179858791 [GRCh37] Chr1:1q25.2 |
likely benign |
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 | copy number loss | See cases [RCV000134144] | Chr1:176595962..196301688 [GRCh38] Chr1:176565098..196270818 [GRCh37] Chr1:174831721..194537441 [NCBI36] Chr1:1q25.2-31.3 |
pathogenic |
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 | copy number gain | See cases [RCV000134876] | Chr1:171039975..186875957 [GRCh38] Chr1:171009116..186845089 [GRCh37] Chr1:169275740..185111712 [NCBI36] Chr1:1q24.3-31.1 |
pathogenic |
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 | copy number loss | See cases [RCV000142369] | Chr1:170929720..191065409 [GRCh38] Chr1:170898861..191034539 [GRCh37] Chr1:169165485..189301162 [NCBI36] Chr1:1q24.3-31.2 |
pathogenic |
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 | copy number loss | See cases [RCV000143688] | Chr1:170036068..187555148 [GRCh38] Chr1:170005209..187524280 [GRCh37] Chr1:168271833..185790903 [NCBI36] Chr1:1q24.2-31.1 |
pathogenic |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) | copy number gain | not provided [RCV000767621] | Chr1:169423492..180367623 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 | copy number loss | See cases [RCV000239775] | Chr1:172742952..181814496 [GRCh37] Chr1:1q24.3-25.3 |
pathogenic |
NM_015602.4(TOR1AIP1):c.71C>G (p.Pro24Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000526574] | Chr1:179882573 [GRCh38] Chr1:179851708 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1445A>C (p.Glu482Ala) | single nucleotide variant | not provided [RCV000239575] | Chr1:179917932 [GRCh38] Chr1:179887067 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.186del (p.Glu62fs) | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000239525] | Chr1:179882688 [GRCh38] Chr1:179851823 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.964+17A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002058001]|not provided [RCV001675707]|not specified [RCV000243509] | Chr1:179914071 [GRCh38] Chr1:179883206 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.948A>G (p.Pro316=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000550954] | Chr1:179914038 [GRCh38] Chr1:179883173 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.475+17dup | duplication | not specified [RCV000247262] | Chr1:179882993..179882994 [GRCh38] Chr1:179852128..179852129 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.437T>C (p.Met146Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001513690]|not provided [RCV001610614]|not specified [RCV000242478] | Chr1:179882939 [GRCh38] Chr1:179852074 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.*11del | deletion | not specified [RCV000247611] | Chr1:179918250 [GRCh38] Chr1:179887385 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001510938]|not provided [RCV001722301]|not specified [RCV000252522] | Chr1:179908645 [GRCh38] Chr1:179877780 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000557379]|not provided [RCV001563057]|not specified [RCV000242996] | Chr1:179889335 [GRCh38] Chr1:179858470 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_015602.4(TOR1AIP1):c.827C>G (p.Pro276Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001513691]|not provided [RCV001683016]|not specified [RCV000247762] | Chr1:179907853 [GRCh38] Chr1:179876988 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.554-4G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000626056]|not provided [RCV001537297]|not specified [RCV000252823] | Chr1:179889309 [GRCh38] Chr1:179858444 [GRCh37] Chr1:1q25.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015602.4(TOR1AIP1):c.1503G>A (p.Ala501=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001513692]|not provided [RCV001668471]|not specified [RCV000250769] | Chr1:179917990 [GRCh38] Chr1:179887125 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) | insertion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000549178]|not provided [RCV001561359] | Chr1:179884747..179884748 [GRCh38] Chr1:179853882..179853883 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000554239]|TOR1AIP1-related condition [RCV003935553]|not provided [RCV001532083] | Chr1:179917634 [GRCh38] Chr1:179886769 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.281C>G (p.Ser94Cys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000531793] | Chr1:179882783 [GRCh38] Chr1:179851918 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000530725]|not provided [RCV001755909] | Chr1:179918138 [GRCh38] Chr1:179887273 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000538112] | Chr1:179889339 [GRCh38] Chr1:179858474 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000538330]|TOR1AIP1-related condition [RCV003935554]|not provided [RCV001613379] | Chr1:179913999 [GRCh38] Chr1:179883134 [GRCh37] Chr1:1q25.2 |
benign |
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 | copy number loss | See cases [RCV000447098] | Chr1:161676893..184071723 [GRCh37] Chr1:1q23.3-25.3 |
pathogenic |
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 | copy number loss | See cases [RCV000447593] | Chr1:169873155..181823980 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 | copy number loss | See cases [RCV000445748] | Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 | copy number loss | See cases [RCV000448646] | Chr1:179564752..183850820 [GRCh37] Chr1:1q25.2-25.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 | copy number loss | See cases [RCV000448809] | Chr1:179073386..200192265 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264) | copy number loss | Abnormal esophagus morphology [RCV000416849] | Chr1:178806664..181082264 [GRCh37] Chr1:1q25.2-25.3 |
likely benign |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 | copy number loss | See cases [RCV000448686] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 | copy number loss | See cases [RCV000512128] | Chr1:179011314..199022759 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000626055] | Chr1:179917914 [GRCh38] Chr1:179887049 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.274T>A (p.Ser92Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000560149]|not provided [RCV003313103] | Chr1:179882776 [GRCh38] Chr1:179851911 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1454C>A (p.Pro485His) | single nucleotide variant | Inborn genetic diseases [RCV003281494] | Chr1:179917941 [GRCh38] Chr1:179887076 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.16C>G (p.Arg6Gly) | single nucleotide variant | Inborn genetic diseases [RCV003280437] | Chr1:179882518 [GRCh38] Chr1:179851653 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.272G>A (p.Arg91Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000653380] | Chr1:179882774 [GRCh38] Chr1:179851909 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.463C>T (p.His155Tyr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000653381] | Chr1:179882965 [GRCh38] Chr1:179852100 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.177C>A (p.Phe59Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000653382] | Chr1:179882679 [GRCh38] Chr1:179851814 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.142C>T (p.Pro48Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000653383] | Chr1:179882644 [GRCh38] Chr1:179851779 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000653384]|not provided [RCV001556446] | Chr1:179882657 [GRCh38] Chr1:179851792 [GRCh37] Chr1:1q25.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_015602.4(TOR1AIP1):c.965-10del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000653385]|not provided [RCV001861666] | Chr1:179917442 [GRCh38] Chr1:179886577 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.553+10G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001470603] | Chr1:179884779 [GRCh38] Chr1:179853914 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000560627]|not provided [RCV001541470] | Chr1:179882539 [GRCh38] Chr1:179851674 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.826C>T (p.Pro276Ser) | single nucleotide variant | Inborn genetic diseases [RCV003272840] | Chr1:179907852 [GRCh38] Chr1:179876987 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.428C>T (p.Ser143Phe) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000536526]|not provided [RCV001692206] | Chr1:179882930 [GRCh38] Chr1:179852065 [GRCh37] Chr1:1q25.2 |
benign |
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 | copy number gain | See cases [RCV000512520] | Chr1:173138799..185129406 [GRCh37] Chr1:1q25.1-25.3 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.964+5G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000698845] | Chr1:179914059 [GRCh38] Chr1:179883194 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.380C>T (p.Thr127Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000686670] | Chr1:179882882 [GRCh38] Chr1:179852017 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000699251]|Inborn genetic diseases [RCV002534371] | Chr1:179908621 [GRCh38] Chr1:179877756 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1465A>G (p.Thr489Ala) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000699901] | Chr1:179917952 [GRCh38] Chr1:179887087 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.361G>A (p.Glu121Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000707137] | Chr1:179882863 [GRCh38] Chr1:179851998 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000690346] | Chr1:179918096 [GRCh38] Chr1:179887231 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.962G>A (p.Arg321Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000690902] | Chr1:179914052 [GRCh38] Chr1:179883187 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NC_000001.11:g.(?_179882503)_(179904022_?)del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000708159] | Chr1:179882503..179904022 [GRCh38] Chr1:179851638..179873157 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.1749A>G (p.Leu583=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000692415] | Chr1:179918236 [GRCh38] Chr1:179887371 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_015602.4(TOR1AIP1):c.452T>C (p.Leu151Pro) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000705411]|not provided [RCV001838118] | Chr1:179882954 [GRCh38] Chr1:179852089 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 | copy number loss | not provided [RCV000736735] | Chr1:173131908..187406532 [GRCh37] Chr1:1q25.1-31.1 |
pathogenic |
NC_000001.11:g.179882173C>T | single nucleotide variant | not provided [RCV001530795] | Chr1:179882173 [GRCh38] Chr1:179851308 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.964+131A>G | single nucleotide variant | not provided [RCV001541205] | Chr1:179914185 [GRCh38] Chr1:179883320 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.480T>C (p.Asp160=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001460485] | Chr1:179884696 [GRCh38] Chr1:179853831 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1617G>A (p.Lys539=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000970637] | Chr1:179918104 [GRCh38] Chr1:179887239 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1200C>T (p.Ser400=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000983521] | Chr1:179917687 [GRCh38] Chr1:179886822 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1254T>C (p.Ala418=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001474151] | Chr1:179917741 [GRCh38] Chr1:179886876 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001069849] | Chr1:179903989 [GRCh38] Chr1:179873124 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.383C>T (p.Thr128Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001072037] | Chr1:179882885 [GRCh38] Chr1:179852020 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.808A>G (p.Thr270Ala) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001052129] | Chr1:179907834 [GRCh38] Chr1:179876969 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1604T>C (p.Phe535Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001061026] | Chr1:179918091 [GRCh38] Chr1:179887226 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000796224]|Inborn genetic diseases [RCV003166134]|not provided [RCV001592975] | Chr1:179917806 [GRCh38] Chr1:179886941 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000814926]|not specified [RCV002282377] | Chr1:179917943 [GRCh38] Chr1:179887078 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.262G>C (p.Glu88Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000819012] | Chr1:179882764 [GRCh38] Chr1:179851899 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1329G>T (p.Arg443=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000876259] | Chr1:179917816 [GRCh38] Chr1:179886951 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.999C>T (p.Val333=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001463579] | Chr1:179917486 [GRCh38] Chr1:179886621 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000878710]|not provided [RCV001551159] | Chr1:179884759 [GRCh38] Chr1:179853894 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1477T>C (p.Tyr493His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000817569] | Chr1:179917964 [GRCh38] Chr1:179887099 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000817819] | Chr1:179900161 [GRCh38] Chr1:179869296 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.908-7C>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000800076] | Chr1:179913991 [GRCh38] Chr1:179883126 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.906_907+5del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000797796] | Chr1:179908672..179908678 [GRCh38] Chr1:179877807..179877813 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.188C>T (p.Pro63Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000804138] | Chr1:179882690 [GRCh38] Chr1:179851825 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.296T>C (p.Val99Ala) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000805098] | Chr1:179882798 [GRCh38] Chr1:179851933 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.163C>G (p.Arg55Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000810458] | Chr1:179882665 [GRCh38] Chr1:179851800 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.838+3A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000808200]|not provided [RCV001655601] | Chr1:179907867 [GRCh38] Chr1:179877002 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.952dup (p.Thr318fs) | duplication | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000812073] | Chr1:179914040..179914041 [GRCh38] Chr1:179883175..179883176 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1568T>A (p.Leu523Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000797223] | Chr1:179918055 [GRCh38] Chr1:179887190 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.553+1_553+10del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000822683]|not provided [RCV001766746] | Chr1:179884768..179884777 [GRCh38] Chr1:179853903..179853912 [GRCh37] Chr1:1q25.2 |
likely pathogenic|uncertain significance |
NM_015602.4(TOR1AIP1):c.553+1G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000798451] | Chr1:179884770 [GRCh38] Chr1:179853905 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.907+6T>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001065882] | Chr1:179908679 [GRCh38] Chr1:179877814 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1478A>G (p.Tyr493Cys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000794803] | Chr1:179917965 [GRCh38] Chr1:179887100 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.467C>T (p.Ser156Phe) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000797935]|Inborn genetic diseases [RCV002537064]|not provided [RCV001766651] | Chr1:179882969 [GRCh38] Chr1:179852104 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.514A>G (p.Ile172Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000802632] | Chr1:179884730 [GRCh38] Chr1:179853865 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1330A>G (p.Ile444Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000802662] | Chr1:179917817 [GRCh38] Chr1:179886952 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NC_000001.10:g.172652343_183538289del10885947 | deletion | 1q24q25 microdeletion syndrome [RCV000785662] | Chr1:172652343..183538289 [GRCh37] Chr1:1q24.3-25.3 |
pathogenic |
NM_015602.4(TOR1AIP1):c.90C>A (p.Gly30=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002064676] | Chr1:179882592 [GRCh38] Chr1:179851727 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.797-2A>T | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001045706] | Chr1:179907821 [GRCh38] Chr1:179876956 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.64A>G (p.Arg22Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001044122] | Chr1:179882566 [GRCh38] Chr1:179851701 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001044272]|Inborn genetic diseases [RCV003346273] | Chr1:179882875 [GRCh38] Chr1:179852010 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.721del (p.Asp241fs) | deletion | not provided [RCV001009288] | Chr1:179901368 [GRCh38] Chr1:179870503 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.80A>T (p.Glu27Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001247412] | Chr1:179882582 [GRCh38] Chr1:179851717 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.611-10T>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001201726] | Chr1:179900116 [GRCh38] Chr1:179869251 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.796+5G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001239258] | Chr1:179904027 [GRCh38] Chr1:179873162 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs) | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001222816] | Chr1:179901311 [GRCh38] Chr1:179870446 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001242716]|not provided [RCV001751482] | Chr1:179917842 [GRCh38] Chr1:179886977 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1750T>A (p.Ter584Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001230034] | Chr1:179918237 [GRCh38] Chr1:179887372 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1298A>G (p.Tyr433Cys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001241163] | Chr1:179917785 [GRCh38] Chr1:179886920 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.548C>G (p.Ala183Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001225018] | Chr1:179884764 [GRCh38] Chr1:179853899 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001235238] | Chr1:179917627 [GRCh38] Chr1:179886762 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.29C>A (p.Ala10Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001245898] | Chr1:179882531 [GRCh38] Chr1:179851666 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC | indel | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001224043] | Chr1:179889309..179889312 [GRCh38] Chr1:179858444..179858447 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.112G>A (p.Gly38Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001232645] | Chr1:179882614 [GRCh38] Chr1:179851749 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1052G>C (p.Ser351Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003104839] | Chr1:179917539 [GRCh38] Chr1:179886674 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.553+122A>T | single nucleotide variant | not provided [RCV001642104] | Chr1:179884891 [GRCh38] Chr1:179854026 [GRCh37] Chr1:1q25.2 |
benign |
NC_000001.11:g.179881717T>C | single nucleotide variant | not provided [RCV001551489] | Chr1:179881717 [GRCh38] Chr1:179850852 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.476-175_476-174del | deletion | not provided [RCV001715080] | Chr1:179884517..179884518 [GRCh38] Chr1:179853652..179853653 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.652+114G>A | single nucleotide variant | not provided [RCV001555641] | Chr1:179900281 [GRCh38] Chr1:179869416 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.838+201C>T | single nucleotide variant | not provided [RCV001555697] | Chr1:179908065 [GRCh38] Chr1:179877200 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.964+53A>G | single nucleotide variant | not provided [RCV001675438] | Chr1:179914107 [GRCh38] Chr1:179883242 [GRCh37] Chr1:1q25.2 |
benign |
NC_000001.11:g.179882017C>T | single nucleotide variant | not provided [RCV001661028] | Chr1:179882017 [GRCh38] Chr1:179851152 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.740-236dup | duplication | not provided [RCV001569211] | Chr1:179903728..179903729 [GRCh38] Chr1:179872863..179872864 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.838+162C>T | single nucleotide variant | not provided [RCV001717813] | Chr1:179908026 [GRCh38] Chr1:179877161 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.611-213G>A | single nucleotide variant | not provided [RCV001562556] | Chr1:179899913 [GRCh38] Chr1:179869048 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.797-229TA[19] | microsatellite | not provided [RCV001562754] | Chr1:179907593..179907594 [GRCh38] Chr1:179876728..179876729 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.964+102G>A | single nucleotide variant | not provided [RCV001552073] | Chr1:179914156 [GRCh38] Chr1:179883291 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.610+298del | deletion | not provided [RCV001676891] | Chr1:179889653 [GRCh38] Chr1:179858788 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.740-301C>T | single nucleotide variant | not provided [RCV001587646] | Chr1:179903665 [GRCh38] Chr1:179872800 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.797-229TA[11] | microsatellite | not provided [RCV001617503] | Chr1:179907594..179907595 [GRCh38] Chr1:179876729..179876730 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.243G>C (p.Val81=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001426583] | Chr1:179882745 [GRCh38] Chr1:179851880 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.63C>G (p.Pro21=) | single nucleotide variant | not provided [RCV000892332] | Chr1:179882565 [GRCh38] Chr1:179851700 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1614C>A (p.Val538=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000953802] | Chr1:179918101 [GRCh38] Chr1:179887236 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.493C>G (p.Gln165Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001440764]|not provided [RCV000876065] | Chr1:179884709 [GRCh38] Chr1:179853844 [GRCh37] Chr1:1q25.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015602.4(TOR1AIP1):c.825A>G (p.Gln275=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001431447] | Chr1:179907851 [GRCh38] Chr1:179876986 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1074T>A (p.Pro358=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001454635] | Chr1:179917561 [GRCh38] Chr1:179886696 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.27G>A (p.Glu9=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000920405] | Chr1:179882529 [GRCh38] Chr1:179851664 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1410G>A (p.Lys470=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001426521] | Chr1:179917897 [GRCh38] Chr1:179887032 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.653-6C>T | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001482307] | Chr1:179901296 [GRCh38] Chr1:179870431 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.24A>G (p.Ala8=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001434071] | Chr1:179882526 [GRCh38] Chr1:179851661 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1646A>G (p.Tyr549Cys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001218944] | Chr1:179918133 [GRCh38] Chr1:179887268 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1313G>A (p.Ser438Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001239631] | Chr1:179917800 [GRCh38] Chr1:179886935 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1381G>T (p.Val461Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001050687] | Chr1:179917868 [GRCh38] Chr1:179887003 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.794A>G (p.Gln265Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001227433] | Chr1:179904020 [GRCh38] Chr1:179873155 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001223468] | Chr1:179882807 [GRCh38] Chr1:179851942 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001245576]|Inborn genetic diseases [RCV003166542] | Chr1:179882627 [GRCh38] Chr1:179851762 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.852A>C (p.Gln284His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001044554] | Chr1:179908618 [GRCh38] Chr1:179877753 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.454C>T (p.Arg152Trp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001069513] | Chr1:179882956 [GRCh38] Chr1:179852091 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.20G>A (p.Arg7Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001069929] | Chr1:179882522 [GRCh38] Chr1:179851657 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1309C>T (p.Arg437Cys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001228060] | Chr1:179917796 [GRCh38] Chr1:179886931 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1210C>T (p.Arg404Trp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001228151] | Chr1:179917697 [GRCh38] Chr1:179886832 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.30G>T (p.Ala10=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000912777] | Chr1:179882532 [GRCh38] Chr1:179851667 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.797-229TA[18] | microsatellite | not provided [RCV001577628] | Chr1:179907593..179907594 [GRCh38] Chr1:179876728..179876729 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV000991359]|not provided [RCV003324806] | Chr1:179914051 [GRCh38] Chr1:179883186 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.797-229TA[13] | microsatellite | not provided [RCV001689058] | Chr1:179907593..179907594 [GRCh38] Chr1:179876728..179876729 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.652+286A>G | single nucleotide variant | not provided [RCV001553206] | Chr1:179900453 [GRCh38] Chr1:179869588 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.475+48C>T | single nucleotide variant | not provided [RCV001636026] | Chr1:179883025 [GRCh38] Chr1:179852160 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.797-121A>G | single nucleotide variant | not provided [RCV001592280] | Chr1:179907702 [GRCh38] Chr1:179876837 [GRCh37] Chr1:1q25.2 |
likely benign |
NC_000001.11:g.179882027del | deletion | not provided [RCV001597567] | Chr1:179882025 [GRCh38] Chr1:179851160 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.554-156G>A | single nucleotide variant | not provided [RCV001723089] | Chr1:179889157 [GRCh38] Chr1:179858292 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.797-58A>T | single nucleotide variant | not provided [RCV001639251] | Chr1:179907765 [GRCh38] Chr1:179876900 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001866233]|not provided [RCV001590730] | Chr1:179918175 [GRCh38] Chr1:179887310 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.797-229TA[10] | microsatellite | not provided [RCV001719400] | Chr1:179907594..179907597 [GRCh38] Chr1:179876729..179876732 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.554-115C>T | single nucleotide variant | not provided [RCV001598219] | Chr1:179889198 [GRCh38] Chr1:179858333 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.475+47G>C | single nucleotide variant | not provided [RCV001694890] | Chr1:179883024 [GRCh38] Chr1:179852159 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.653-247T>C | single nucleotide variant | not provided [RCV001719231] | Chr1:179901055 [GRCh38] Chr1:179870190 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.1012T>C (p.Trp338Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001048244] | Chr1:179917499 [GRCh38] Chr1:179886634 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.839-272G>A | single nucleotide variant | not provided [RCV001548321] | Chr1:179908333 [GRCh38] Chr1:179877468 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.884C>T (p.Ala295Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001041559] | Chr1:179908650 [GRCh38] Chr1:179877785 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001056114]|not provided [RCV001564898] | Chr1:179900153 [GRCh38] Chr1:179869288 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.425C>T (p.Pro142Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001071610] | Chr1:179882927 [GRCh38] Chr1:179852062 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.43T>C (p.Trp15Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001205135] | Chr1:179882545 [GRCh38] Chr1:179851680 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.610+3A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001220298] | Chr1:179889372 [GRCh38] Chr1:179858507 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001216368]|not provided [RCV003414009] | Chr1:179901310 [GRCh38] Chr1:179870445 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1226T>G (p.Ile409Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001061562] | Chr1:179917713 [GRCh38] Chr1:179886848 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001051270] | Chr1:179882873 [GRCh38] Chr1:179852008 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1649A>G (p.Asn550Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001219147] | Chr1:179918136 [GRCh38] Chr1:179887271 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs) | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001232336] | Chr1:179882507..179882513 [GRCh38] Chr1:179851642..179851648 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.88G>C (p.Gly30Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001048160] | Chr1:179882590 [GRCh38] Chr1:179851725 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001246974] | Chr1:179882957 [GRCh38] Chr1:179852092 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 | copy number loss | not provided [RCV001005157] | Chr1:177551193..199599056 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NM_015602.4(TOR1AIP1):c.581G>A (p.Arg194His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001064299] | Chr1:179889340 [GRCh38] Chr1:179858475 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.663AGA[1] (p.Glu222del) | microsatellite | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001201514] | Chr1:179901310..179901312 [GRCh38] Chr1:179870445..179870447 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001055688] | Chr1:179908673 [GRCh38] Chr1:179877808 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.164G>A (p.Arg55Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001312869] | Chr1:179882666 [GRCh38] Chr1:179851801 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1613T>A (p.Val538Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001996130] | Chr1:179918100 [GRCh38] Chr1:179887235 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.610+298T>A | single nucleotide variant | not provided [RCV001575609] | Chr1:179889667 [GRCh38] Chr1:179858802 [GRCh37] Chr1:1q25.2 |
likely benign |
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 | copy number gain | not provided [RCV001258487] | Chr1:173162501..182702252 [GRCh37] Chr1:1q25.1-25.3 |
pathogenic |
NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001257229] | Chr1:179903981 [GRCh38] Chr1:179873116 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1465A>T (p.Thr489Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001318798] | Chr1:179917952 [GRCh38] Chr1:179887087 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.455G>T (p.Arg152Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001308668] | Chr1:179882957 [GRCh38] Chr1:179852092 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.592C>A (p.Leu198Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001299327] | Chr1:179889351 [GRCh38] Chr1:179858486 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.308C>T (p.Ala103Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001342657] | Chr1:179882810 [GRCh38] Chr1:179851945 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.121G>T (p.Asp41Tyr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001298594] | Chr1:179882623 [GRCh38] Chr1:179851758 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.173G>A (p.Arg58Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001299485] | Chr1:179882675 [GRCh38] Chr1:179851810 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.443G>C (p.Arg148Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001325824]|Inborn genetic diseases [RCV002546143] | Chr1:179882945 [GRCh38] Chr1:179852080 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.252A>T (p.Arg84=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001320935]|not provided [RCV001587342] | Chr1:179882754 [GRCh38] Chr1:179851889 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_015602.4(TOR1AIP1):c.289G>A (p.Glu97Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001320252] | Chr1:179882791 [GRCh38] Chr1:179851926 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.827_828delinsGC (p.Pro276Arg) | indel | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001320400] | Chr1:179907853..179907854 [GRCh38] Chr1:179876988..179876989 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.555G>A (p.Val185=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001395364]|not provided [RCV002276244] | Chr1:179889314 [GRCh38] Chr1:179858449 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.944C>T (p.Ser315Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001297850] | Chr1:179914034 [GRCh38] Chr1:179883169 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.35G>A (p.Arg12Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001313528] | Chr1:179882537 [GRCh38] Chr1:179851672 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1711G>T (p.Val571Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001360213] | Chr1:179918198 [GRCh38] Chr1:179887333 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.791C>T (p.Ser264Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001322829] | Chr1:179904017 [GRCh38] Chr1:179873152 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.323C>T (p.Ser108Phe) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001314835] | Chr1:179882825 [GRCh38] Chr1:179851960 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001374259]|Inborn genetic diseases [RCV002550190]|not provided [RCV003327513] | Chr1:179882906 [GRCh38] Chr1:179852041 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001363347]|not provided [RCV001551742] | Chr1:179917926 [GRCh38] Chr1:179887061 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.55G>A (p.Val19Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001372996] | Chr1:179882557 [GRCh38] Chr1:179851692 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.197T>A (p.Val66Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001359722] | Chr1:179882699 [GRCh38] Chr1:179851834 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.609T>C (p.Tyr203=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001309232]|TOR1AIP1-related condition [RCV003945985] | Chr1:179889368 [GRCh38] Chr1:179858503 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_015602.4(TOR1AIP1):c.983A>G (p.Gln328Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001318385] | Chr1:179917470 [GRCh38] Chr1:179886605 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.460T>A (p.Ser154Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001305597] | Chr1:179882962 [GRCh38] Chr1:179852097 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.457G>A (p.Asp153Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001338648]|not provided [RCV001773675] | Chr1:179882959 [GRCh38] Chr1:179852094 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1163A>C (p.Lys388Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001367294] | Chr1:179917650 [GRCh38] Chr1:179886785 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.205G>T (p.Asp69Tyr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001371956] | Chr1:179882707 [GRCh38] Chr1:179851842 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.366G>A (p.Met122Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001312653] | Chr1:179882868 [GRCh38] Chr1:179852003 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1701A>G (p.Leu567=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001395527] | Chr1:179918188 [GRCh38] Chr1:179887323 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.159C>G (p.Gly53=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001453739] | Chr1:179882661 [GRCh38] Chr1:179851796 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001387848] | Chr1:179907856 [GRCh38] Chr1:179876991 [GRCh37] Chr1:1q25.2 |
pathogenic|conflicting interpretations of pathogenicity |
NM_015602.4(TOR1AIP1):c.1695T>C (p.Ser565=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001475563] | Chr1:179918182 [GRCh38] Chr1:179887317 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.525A>G (p.Lys175=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001454029] | Chr1:179884741 [GRCh38] Chr1:179853876 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.351G>A (p.Gln117=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001506647] | Chr1:179882853 [GRCh38] Chr1:179851988 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.990A>G (p.Ala330=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001418461] | Chr1:179917477 [GRCh38] Chr1:179886612 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.908-208G>A | single nucleotide variant | not provided [RCV001643649] | Chr1:179913790 [GRCh38] Chr1:179882925 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.1155G>A (p.Lys385=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001418835]|TOR1AIP1-related condition [RCV003900442] | Chr1:179917642 [GRCh38] Chr1:179886777 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.459C>T (p.Asp153=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001426677] | Chr1:179882961 [GRCh38] Chr1:179852096 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.739+7T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001400421] | Chr1:179901395 [GRCh38] Chr1:179870530 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1332T>C (p.Ile444=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001408057] | Chr1:179917819 [GRCh38] Chr1:179886954 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1356A>G (p.Gln452=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001408391] | Chr1:179917843 [GRCh38] Chr1:179886978 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.519A>G (p.Ser173=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001401308] | Chr1:179884735 [GRCh38] Chr1:179853870 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1455C>T (p.Pro485=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001442604] | Chr1:179917942 [GRCh38] Chr1:179887077 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.610+13_610+16del | microsatellite | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001447972] | Chr1:179889378..179889381 [GRCh38] Chr1:179858513..179858516 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.553+78T>C | single nucleotide variant | not provided [RCV001538326] | Chr1:179884847 [GRCh38] Chr1:179853982 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001481827]|not provided [RCV001561892] | Chr1:179882568 [GRCh38] Chr1:179851703 [GRCh37] Chr1:1q25.2 |
likely benign |
NC_000001.11:g.179882051C>G | single nucleotide variant | not provided [RCV001725371] | Chr1:179882051 [GRCh38] Chr1:179851186 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.964+305G>A | single nucleotide variant | not provided [RCV001709400] | Chr1:179914359 [GRCh38] Chr1:179883494 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.1260A>G (p.Glu420=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001465637] | Chr1:179917747 [GRCh38] Chr1:179886882 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.739+105A>G | single nucleotide variant | not provided [RCV001698525] | Chr1:179901493 [GRCh38] Chr1:179870628 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.964+140A>G | single nucleotide variant | not provided [RCV001581959] | Chr1:179914194 [GRCh38] Chr1:179883329 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.864G>A (p.Gln288=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001456370] | Chr1:179908630 [GRCh38] Chr1:179877765 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.797-230_797-197del | deletion | not provided [RCV001654684] | Chr1:179907592..179907625 [GRCh38] Chr1:179876727..179876760 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.471T>C (p.Ser157=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001442112] | Chr1:179882973 [GRCh38] Chr1:179852108 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.600C>T (p.Tyr200=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001476416] | Chr1:179889359 [GRCh38] Chr1:179858494 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.919C>T (p.Leu307=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001495385] | Chr1:179914009 [GRCh38] Chr1:179883144 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003108833] | Chr1:179884701 [GRCh38] Chr1:179853836 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001882799]|Inborn genetic diseases [RCV002543900]|not provided [RCV001732405] | Chr1:179882621 [GRCh38] Chr1:179851756 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.274T>C (p.Ser92Pro) | single nucleotide variant | not provided [RCV001756910] | Chr1:179882776 [GRCh38] Chr1:179851911 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1203_1204delinsTT (p.His402Tyr) | indel | not provided [RCV001771505] | Chr1:179917690..179917691 [GRCh38] Chr1:179886825..179886826 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.341C>T (p.Pro114Leu) | single nucleotide variant | not provided [RCV001763882] | Chr1:179882843 [GRCh38] Chr1:179851978 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001861047]|not provided [RCV001754427] | Chr1:179908623 [GRCh38] Chr1:179877758 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001861046]|Inborn genetic diseases [RCV003163817]|not provided [RCV001753965] | Chr1:179882743 [GRCh38] Chr1:179851878 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.329A>T (p.Gln110Leu) | single nucleotide variant | not provided [RCV001771340] | Chr1:179882831 [GRCh38] Chr1:179851966 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.702del (p.Val235fs) | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001785077] | Chr1:179901351 [GRCh38] Chr1:179870486 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.1517T>C (p.Val506Ala) | single nucleotide variant | not provided [RCV001757166] | Chr1:179918004 [GRCh38] Chr1:179887139 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.47G>T (p.Gly16Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001878076] | Chr1:179882549 [GRCh38] Chr1:179851684 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1327C>T (p.Arg443Trp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002043333] | Chr1:179917814 [GRCh38] Chr1:179886949 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.619A>G (p.Ser207Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002046120] | Chr1:179900134 [GRCh38] Chr1:179869269 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.62C>T (p.Pro21Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002048013] | Chr1:179882564 [GRCh38] Chr1:179851699 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.554-1G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001838929] | Chr1:179889312 [GRCh38] Chr1:179858447 [GRCh37] Chr1:1q25.2 |
benign|conflicting interpretations of pathogenicity |
NM_015602.4(TOR1AIP1):c.343C>T (p.Arg115Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001877950] | Chr1:179882845 [GRCh38] Chr1:179851980 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.379del (p.Thr127fs) | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002000140] | Chr1:179882881 [GRCh38] Chr1:179852016 [GRCh37] Chr1:1q25.2 |
pathogenic |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) | copy number loss | not specified [RCV002053736] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
NM_015602.4(TOR1AIP1):c.1225A>G (p.Ile409Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001876524] | Chr1:179917712 [GRCh38] Chr1:179886847 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.189dup (p.Pro64fs) | duplication | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001870185] | Chr1:179882690..179882691 [GRCh38] Chr1:179851825..179851826 [GRCh37] Chr1:1q25.2 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) | copy number loss | not specified [RCV002053780] | Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NM_015602.4(TOR1AIP1):c.676G>C (p.Asp226His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002012624] | Chr1:179901325 [GRCh38] Chr1:179870460 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1495G>A (p.Glu499Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002001259] | Chr1:179917982 [GRCh38] Chr1:179887117 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.25G>A (p.Glu9Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001991258] | Chr1:179882527 [GRCh38] Chr1:179851662 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) | copy number loss | not specified [RCV002053713] | Chr1:169873155..181823980 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
NM_015602.4(TOR1AIP1):c.286A>G (p.Lys96Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002036558] | Chr1:179882788 [GRCh38] Chr1:179851923 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.268T>A (p.Phe90Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002036922] | Chr1:179882770 [GRCh38] Chr1:179851905 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1098A>G (p.Gln366=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002040340] | Chr1:179917585 [GRCh38] Chr1:179886720 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) | copy number loss | not specified [RCV002053769] | Chr1:179073386..200192265 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NM_015602.4(TOR1AIP1):c.79G>A (p.Glu27Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002050599] | Chr1:179882581 [GRCh38] Chr1:179851716 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.938A>G (p.Asn313Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002024530] | Chr1:179914028 [GRCh38] Chr1:179883163 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.372_383del (p.Arg126_Arg129del) | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002043472] | Chr1:179882872..179882883 [GRCh38] Chr1:179852007..179852018 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 | copy number loss | not provided [RCV001836604] | Chr1:178522021..190322133 [GRCh37] Chr1:1q25.2-31.1 |
pathogenic |
NM_015602.4(TOR1AIP1):c.769A>G (p.Ile257Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001930927] | Chr1:179903995 [GRCh38] Chr1:179873130 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NC_000001.10:g.(?_179520308)_(183559464_?)dup | duplication | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] | Chr1:179520308..183559464 [GRCh37] Chr1:1q25.2-25.3 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.518C>T (p.Ser173Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001952923] | Chr1:179884734 [GRCh38] Chr1:179853869 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.512C>T (p.Thr171Met) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001895442] | Chr1:179884728 [GRCh38] Chr1:179853863 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NC_000001.10:g.(?_179876938)_(179877828_?)del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001928043] | Chr1:179876938..179877828 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1441T>G (p.Phe481Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001930436] | Chr1:179917928 [GRCh38] Chr1:179887063 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.101C>A (p.Pro34His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001959451] | Chr1:179882603 [GRCh38] Chr1:179851738 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.965-3T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001880800] | Chr1:179917449 [GRCh38] Chr1:179886584 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.156G>A (p.Gln52=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001969311] | Chr1:179882658 [GRCh38] Chr1:179851793 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001939436] | Chr1:179882651 [GRCh38] Chr1:179851786 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.1705C>A (p.Leu569Met) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001887324] | Chr1:179918192 [GRCh38] Chr1:179887327 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.700A>G (p.Thr234Ala) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001940695] | Chr1:179901349 [GRCh38] Chr1:179870484 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.826_827delinsTG (p.Pro276Cys) | indel | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001942894] | Chr1:179907852..179907853 [GRCh38] Chr1:179876987..179876988 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.56T>A (p.Val19Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001943397] | Chr1:179882558 [GRCh38] Chr1:179851693 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.529G>A (p.Val177Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001944634] | Chr1:179884745 [GRCh38] Chr1:179853880 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.230A>G (p.Glu77Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001892103] | Chr1:179882732 [GRCh38] Chr1:179851867 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1328G>A (p.Arg443Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001947895] | Chr1:179917815 [GRCh38] Chr1:179886950 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.83G>A (p.Gly28Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001979869] | Chr1:179882585 [GRCh38] Chr1:179851720 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.38A>T (p.Glu13Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001922952] | Chr1:179882540 [GRCh38] Chr1:179851675 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.139A>C (p.Thr47Pro) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001986331] | Chr1:179882641 [GRCh38] Chr1:179851776 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.338A>C (p.Gln113Pro) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001961740] | Chr1:179882840 [GRCh38] Chr1:179851975 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1010G>A (p.Arg337Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001936938] | Chr1:179917497 [GRCh38] Chr1:179886632 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.349C>T (p.Gln117Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001881617] | Chr1:179882851 [GRCh38] Chr1:179851986 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.413C>T (p.Pro138Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001969318] | Chr1:179882915 [GRCh38] Chr1:179852050 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1241C>G (p.Ala414Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001972244] | Chr1:179917728 [GRCh38] Chr1:179886863 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1223C>G (p.Ala408Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001976634] | Chr1:179917710 [GRCh38] Chr1:179886845 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.931C>G (p.Leu311Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001978562] | Chr1:179914021 [GRCh38] Chr1:179883156 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.121G>A (p.Asp41Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001935915] | Chr1:179882623 [GRCh38] Chr1:179851758 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1282C>G (p.Gln428Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001918096] | Chr1:179917769 [GRCh38] Chr1:179886904 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.739+1G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001963866] | Chr1:179901389 [GRCh38] Chr1:179870524 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.283G>A (p.Ala95Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV001949853] | Chr1:179882785 [GRCh38] Chr1:179851920 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.739+19C>T | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002085100] | Chr1:179901407 [GRCh38] Chr1:179870542 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.768T>C (p.Tyr256=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002170521] | Chr1:179903994 [GRCh38] Chr1:179873129 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.540A>T (p.Ile180=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002149491] | Chr1:179884756 [GRCh38] Chr1:179853891 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.267G>A (p.Glu89=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002080951] | Chr1:179882769 [GRCh38] Chr1:179851904 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.192A>G (p.Pro64=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002174857] | Chr1:179882694 [GRCh38] Chr1:179851829 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1416C>A (p.Gly472=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002114615] | Chr1:179917903 [GRCh38] Chr1:179887038 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.965-15T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002094920] | Chr1:179917437 [GRCh38] Chr1:179886572 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.765A>G (p.Gln255=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002199550] | Chr1:179903991 [GRCh38] Chr1:179873126 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.611-17A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002119932] | Chr1:179900109 [GRCh38] Chr1:179869244 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.611-8dup | duplication | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002120263] | Chr1:179900112..179900113 [GRCh38] Chr1:179869247..179869248 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.678C>T (p.Asp226=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002103385] | Chr1:179901327 [GRCh38] Chr1:179870462 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.537C>T (p.Ser179=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002136992] | Chr1:179884753 [GRCh38] Chr1:179853888 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.285G>A (p.Ala95=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002163752] | Chr1:179882787 [GRCh38] Chr1:179851922 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.99C>T (p.Ala33=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002083103] | Chr1:179882601 [GRCh38] Chr1:179851736 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.554-23G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002141461] | Chr1:179889290 [GRCh38] Chr1:179858425 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.357C>G (p.Thr119=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002155527] | Chr1:179882859 [GRCh38] Chr1:179851994 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.839-13G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002121178] | Chr1:179908592 [GRCh38] Chr1:179877727 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.696C>G (p.Val232=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002138199] | Chr1:179901345 [GRCh38] Chr1:179870480 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.621T>C (p.Ser207=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002083042] | Chr1:179900136 [GRCh38] Chr1:179869271 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.838+11G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003118206] | Chr1:179907875 [GRCh38] Chr1:179877010 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.249A>C (p.Lys83Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003112990] | Chr1:179882751 [GRCh38] Chr1:179851886 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1349C>T (p.Ala450Val) | single nucleotide variant | not provided [RCV003120456] | Chr1:179917836 [GRCh38] Chr1:179886971 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.323C>G (p.Ser108Cys) | single nucleotide variant | not specified [RCV002282850] | Chr1:179882825 [GRCh38] Chr1:179851960 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 | copy number loss | not provided [RCV002473949] | Chr1:179727182..192260142 [GRCh37] Chr1:1q25.2-31.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.68C>A (p.Ala23Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002295588] | Chr1:179882570 [GRCh38] Chr1:179851705 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.476-20T>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002615304] | Chr1:179884672 [GRCh38] Chr1:179853807 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.653-8C>T | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002685598] | Chr1:179901294 [GRCh38] Chr1:179870429 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.839-16T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003074768] | Chr1:179908589 [GRCh38] Chr1:179877724 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003074495] | Chr1:179917698 [GRCh38] Chr1:179886833 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1088C>G (p.Thr363Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002995619] | Chr1:179917575 [GRCh38] Chr1:179886710 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002755606] | Chr1:179901350 [GRCh38] Chr1:179870485 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1250A>T (p.Asp417Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002614765] | Chr1:179917737 [GRCh38] Chr1:179886872 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.259C>T (p.Leu87=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002858661] | Chr1:179882761 [GRCh38] Chr1:179851896 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.126G>A (p.Ala42=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002995067] | Chr1:179882628 [GRCh38] Chr1:179851763 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.339G>T (p.Gln113His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002756534] | Chr1:179882841 [GRCh38] Chr1:179851976 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.770T>C (p.Ile257Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002755712] | Chr1:179903996 [GRCh38] Chr1:179873131 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.964C>T (p.Gln322Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002995482] | Chr1:179914054 [GRCh38] Chr1:179883189 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1279del (p.Glu427fs) | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002862453] | Chr1:179917766 [GRCh38] Chr1:179886901 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.469T>C (p.Ser157Pro) | single nucleotide variant | Inborn genetic diseases [RCV002879546] | Chr1:179882971 [GRCh38] Chr1:179852106 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002908529] | Chr1:179889343 [GRCh38] Chr1:179858478 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.554-12del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002785752] | Chr1:179889300 [GRCh38] Chr1:179858435 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.411G>A (p.Gln137=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002760685] | Chr1:179882913 [GRCh38] Chr1:179852048 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003079649]|Inborn genetic diseases [RCV003078238] | Chr1:179917524 [GRCh38] Chr1:179886659 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.653-6C>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002780874] | Chr1:179901296 [GRCh38] Chr1:179870431 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.964+1G>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002912648] | Chr1:179914055 [GRCh38] Chr1:179883190 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1078G>A (p.Val360Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003038240] | Chr1:179917565 [GRCh38] Chr1:179886700 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.553+14A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003078581] | Chr1:179884783 [GRCh38] Chr1:179853918 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.838+2T>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003002775] | Chr1:179907866 [GRCh38] Chr1:179877001 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.1065T>C (p.Phe355=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002781354] | Chr1:179917552 [GRCh38] Chr1:179886687 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.476-3dup | duplication | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002867328] | Chr1:179884683..179884684 [GRCh38] Chr1:179853818..179853819 [GRCh37] Chr1:1q25.2 |
benign |
NM_015602.4(TOR1AIP1):c.179C>G (p.Ser60Trp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002576314] | Chr1:179882681 [GRCh38] Chr1:179851816 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.251G>T (p.Arg84Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002711707] | Chr1:179882753 [GRCh38] Chr1:179851888 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1389A>G (p.Gln463=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002596636] | Chr1:179917876 [GRCh38] Chr1:179887011 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1244C>T (p.Ala415Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003083883] | Chr1:179917731 [GRCh38] Chr1:179886866 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.93G>A (p.Arg31=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002643657] | Chr1:179882595 [GRCh38] Chr1:179851730 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.739+17T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002572927] | Chr1:179901405 [GRCh38] Chr1:179870540 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1044C>G (p.Ala348=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002701559] | Chr1:179917531 [GRCh38] Chr1:179886666 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.416C>G (p.Pro139Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002766485] | Chr1:179882918 [GRCh38] Chr1:179852053 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.114C>T (p.Gly38=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002801742] | Chr1:179882616 [GRCh38] Chr1:179851751 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.633G>A (p.Lys211=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002800593] | Chr1:179900148 [GRCh38] Chr1:179869283 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.350A>T (p.Gln117Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003458872]|Inborn genetic diseases [RCV003289518]|not provided [RCV002508510] | Chr1:179882852 [GRCh38] Chr1:179851987 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002931840] | Chr1:179901302 [GRCh38] Chr1:179870437 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.540A>C (p.Ile180=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003084524] | Chr1:179884756 [GRCh38] Chr1:179853891 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.653-17T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002642653] | Chr1:179901285 [GRCh38] Chr1:179870420 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.276C>T (p.Ser92=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002741461] | Chr1:179882778 [GRCh38] Chr1:179851913 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.137G>A (p.Arg46Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003082403] | Chr1:179882639 [GRCh38] Chr1:179851774 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.408G>A (p.Glu136=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003091360] | Chr1:179882910 [GRCh38] Chr1:179852045 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1334A>T (p.Asp445Val) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002938654] | Chr1:179917821 [GRCh38] Chr1:179886956 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002941958] | Chr1:179882509 [GRCh38] Chr1:179851644 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.15G>A (p.Gly5=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002675846] | Chr1:179882517 [GRCh38] Chr1:179851652 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1062C>T (p.Phe354=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003090293] | Chr1:179917549 [GRCh38] Chr1:179886684 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.358G>A (p.Glu120Lys) | single nucleotide variant | Inborn genetic diseases [RCV002836161] | Chr1:179882860 [GRCh38] Chr1:179851995 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.123T>A (p.Asp41Glu) | single nucleotide variant | Inborn genetic diseases [RCV002793064] | Chr1:179882625 [GRCh38] Chr1:179851760 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1255G>A (p.Glu419Lys) | single nucleotide variant | Inborn genetic diseases [RCV002961168] | Chr1:179917742 [GRCh38] Chr1:179886877 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.261A>G (p.Leu87=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002857561] | Chr1:179882763 [GRCh38] Chr1:179851898 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.81G>C (p.Glu27Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002746125] | Chr1:179882583 [GRCh38] Chr1:179851718 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1688G>T (p.Arg563Leu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002746128] | Chr1:179918175 [GRCh38] Chr1:179887310 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.4G>A (p.Ala2Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002578463] | Chr1:179882506 [GRCh38] Chr1:179851641 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1344T>G (p.Asp448Glu) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003026290] | Chr1:179917831 [GRCh38] Chr1:179886966 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1471A>T (p.Ile491Phe) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002576945] | Chr1:179917958 [GRCh38] Chr1:179887093 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.147G>A (p.Pro49=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002717379] | Chr1:179882649 [GRCh38] Chr1:179851784 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.267G>C (p.Glu89Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002811918] | Chr1:179882769 [GRCh38] Chr1:179851904 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1197T>C (p.Asn399=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003047090] | Chr1:179917684 [GRCh38] Chr1:179886819 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs) | insertion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003063835] | Chr1:179918208..179918209 [GRCh38] Chr1:179887343..179887344 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.895A>G (p.Thr299Ala) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002806629] | Chr1:179908661 [GRCh38] Chr1:179877796 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.304A>G (p.Ser102Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003045690] | Chr1:179882806 [GRCh38] Chr1:179851941 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002834181] | Chr1:179884743 [GRCh38] Chr1:179853878 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.81G>A (p.Glu27=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003087471] | Chr1:179882583 [GRCh38] Chr1:179851718 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.751A>G (p.Arg251Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003088591] | Chr1:179903977 [GRCh38] Chr1:179873112 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.271C>T (p.Arg91Trp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003065424] | Chr1:179882773 [GRCh38] Chr1:179851908 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.184G>A (p.Glu62Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003063195] | Chr1:179882686 [GRCh38] Chr1:179851821 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.93G>C (p.Arg31=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003089785] | Chr1:179882595 [GRCh38] Chr1:179851730 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.134A>C (p.Tyr45Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003090238] | Chr1:179882636 [GRCh38] Chr1:179851771 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1036G>A (p.Ala346Thr) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002627498] | Chr1:179917523 [GRCh38] Chr1:179886658 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1020A>G (p.Leu340=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002654015] | Chr1:179917507 [GRCh38] Chr1:179886642 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.652+18A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003067587] | Chr1:179900185 [GRCh38] Chr1:179869320 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.444G>A (p.Arg148=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002657758] | Chr1:179882946 [GRCh38] Chr1:179852081 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.360G>T (p.Glu120Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002611142] | Chr1:179882862 [GRCh38] Chr1:179851997 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.290A>G (p.Glu97Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003071805] | Chr1:179882792 [GRCh38] Chr1:179851927 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.476-20_476-19del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002607752] | Chr1:179884672..179884673 [GRCh38] Chr1:179853807..179853808 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.140C>T (p.Thr47Ile) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002587947] | Chr1:179882642 [GRCh38] Chr1:179851777 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.444G>T (p.Arg148Ser) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV002583418] | Chr1:179882946 [GRCh38] Chr1:179852081 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1548A>C (p.Glu516Asp) | single nucleotide variant | Inborn genetic diseases [RCV002814149] | Chr1:179918035 [GRCh38] Chr1:179887170 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1248A>C (p.Arg416=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003069113] | Chr1:179917735 [GRCh38] Chr1:179886870 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.131C>T (p.Ala44Val) | single nucleotide variant | not provided [RCV003129228] | Chr1:179882633 [GRCh38] Chr1:179851768 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141098] | Chr1:179882567 [GRCh38] Chr1:179851702 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141099] | Chr1:179882828 [GRCh38] Chr1:179851963 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141100] | Chr1:179882513 [GRCh38] Chr1:179851648 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs) | duplication | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141101] | Chr1:179917618..179917619 [GRCh38] Chr1:179886753..179886754 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141102] | Chr1:179901315 [GRCh38] Chr1:179870450 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141103] | Chr1:179884723 [GRCh38] Chr1:179853858 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141104] | Chr1:179917906 [GRCh38] Chr1:179887041 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003141105] | Chr1:179917686 [GRCh38] Chr1:179886821 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.955T>C (p.Ser319Pro) | single nucleotide variant | Inborn genetic diseases [RCV003377011] | Chr1:179914045 [GRCh38] Chr1:179883180 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.1225A>C (p.Ile409Leu) | single nucleotide variant | Inborn genetic diseases [RCV003370005] | Chr1:179917712 [GRCh38] Chr1:179886847 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.13G>T (p.Gly5Trp) | single nucleotide variant | Inborn genetic diseases [RCV003371329] | Chr1:179882515 [GRCh38] Chr1:179851650 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.141T>A (p.Thr47=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003873730] | Chr1:179882643 [GRCh38] Chr1:179851778 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.908-5A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003875088] | Chr1:179913993 [GRCh38] Chr1:179883128 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.84A>G (p.Gly28=) | single nucleotide variant | not provided [RCV003421235] | Chr1:179882586 [GRCh38] Chr1:179851721 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.610G>T (p.Glu204Ter) | single nucleotide variant | TOR1AIP1-related condition [RCV003420871] | Chr1:179889369 [GRCh38] Chr1:179858504 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003493201] | Chr1:179882853 [GRCh38] Chr1:179851988 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.846A>T (p.Gly282=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003591378] | Chr1:179908612 [GRCh38] Chr1:179877747 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.554-10A>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003592396] | Chr1:179889303 [GRCh38] Chr1:179858438 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1743C>A (p.Ile581=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003592405] | Chr1:179918230 [GRCh38] Chr1:179887365 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.570A>G (p.Val190=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003591542] | Chr1:179889329 [GRCh38] Chr1:179858464 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.900G>A (p.Arg300=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003828141] | Chr1:179908666 [GRCh38] Chr1:179877801 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003882670] | Chr1:179889342 [GRCh38] Chr1:179858477 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_015602.4(TOR1AIP1):c.183C>T (p.Asp61=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003593124] | Chr1:179882685 [GRCh38] Chr1:179851820 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.87G>A (p.Arg29=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003593125] | Chr1:179882589 [GRCh38] Chr1:179851724 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.63C>T (p.Pro21=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003755781] | Chr1:179882565 [GRCh38] Chr1:179851700 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.653-4_653-3del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003811619] | Chr1:179901297..179901298 [GRCh38] Chr1:179870432..179870433 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.360G>A (p.Glu120=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003811776] | Chr1:179882862 [GRCh38] Chr1:179851997 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.780T>C (p.Phe260=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003592828] | Chr1:179904006 [GRCh38] Chr1:179873141 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.399G>A (p.Gln133=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003756131] | Chr1:179882901 [GRCh38] Chr1:179852036 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.750C>T (p.Thr250=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003755085] | Chr1:179903976 [GRCh38] Chr1:179873111 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.653-13T>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003755674] | Chr1:179901289 [GRCh38] Chr1:179870424 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.797-20A>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003756266] | Chr1:179907803 [GRCh38] Chr1:179876938 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.611-20T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003756375] | Chr1:179900106 [GRCh38] Chr1:179869241 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.739+9G>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003840176] | Chr1:179901397 [GRCh38] Chr1:179870532 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.894G>A (p.Arg298=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003593222] | Chr1:179908660 [GRCh38] Chr1:179877795 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.273G>C (p.Arg91=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003755667] | Chr1:179882775 [GRCh38] Chr1:179851910 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.554-11T>G | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003755854] | Chr1:179889302 [GRCh38] Chr1:179858437 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.426G>T (p.Pro142=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003755896] | Chr1:179882928 [GRCh38] Chr1:179852063 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1677C>T (p.Gly559=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003756029] | Chr1:179918164 [GRCh38] Chr1:179887299 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.611-16T>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003834817] | Chr1:179900110 [GRCh38] Chr1:179869245 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1173A>G (p.Gln391=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003755156] | Chr1:179917660 [GRCh38] Chr1:179886795 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.553+10G>C | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003833781] | Chr1:179884779 [GRCh38] Chr1:179853914 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.907+1G>A | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003832288] | Chr1:179908674 [GRCh38] Chr1:179877809 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 | copy number gain | not specified [RCV003986506] | Chr1:173162501..182702252 [GRCh37] Chr1:1q25.1-25.3 |
pathogenic |
NM_015602.4(TOR1AIP1):c.610+7G>T | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003848459] | Chr1:179889376 [GRCh38] Chr1:179858511 [GRCh37] Chr1:1q25.2 |
likely benign |
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 | copy number loss | not specified [RCV003987250] | Chr1:167994071..187711459 [GRCh37] Chr1:1q24.2-31.1 |
pathogenic |
NM_015602.4(TOR1AIP1):c.531C>T (p.Val177=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003820944] | Chr1:179884747 [GRCh38] Chr1:179853882 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1323C>T (p.Ala441=) | single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003871518] | Chr1:179917810 [GRCh38] Chr1:179886945 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.476-9_476-8del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y [RCV003853284] | Chr1:179884682..179884683 [GRCh38] Chr1:179853817..179853818 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.740-9A>C | single nucleotide variant | TOR1AIP1-related condition [RCV003976656] | Chr1:179903957 [GRCh38] Chr1:179873092 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1670T>A (p.Leu557Gln) | single nucleotide variant | not provided [RCV003887811] | Chr1:179918157 [GRCh38] Chr1:179887292 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_015602.4(TOR1AIP1):c.69C>G (p.Ala23=) | single nucleotide variant | TOR1AIP1-related condition [RCV003937178] | Chr1:179882571 [GRCh38] Chr1:179851706 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_015602.4(TOR1AIP1):c.1284A>C (p.Gln428His) | single nucleotide variant | TOR1AIP1-related condition [RCV003951875] | Chr1:179917771 [GRCh38] Chr1:179886906 [GRCh37] Chr1:1q25.2 |
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. |
RH98531 |
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SHGC-75997 |
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SHGC-57100 |
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D8S2279 |
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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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 2082 | 1999 | 1300 | 252 | 1416 | 120 | 3872 | 1687 | 1864 | 305 | 1399 | 1576 | 145 | 1180 | 2514 | 3 |
Low | 350 | 985 | 424 | 370 | 533 | 344 | 484 | 507 | 1845 | 112 | 52 | 33 | 26 | 24 | 274 | 3 |
Below cutoff | 2 | 1 | 2 | 1 | 1 | 1 | 14 | 2 | 7 | 4 | 2 |
RefSeq Transcripts | NG_042316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001267578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_015602 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK001780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK021613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK310012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL050126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL353708 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL598529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW298193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC023247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ435161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX369105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN360425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000271583 ⟹ ENSP00000271583 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000435319 ⟹ ENSP00000393292 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000447964 ⟹ ENSP00000393613 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474875 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000524653 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000527391 ⟹ ENSP00000432717 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000527867 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000528443 ⟹ ENSP00000435365 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000529091 ⟹ ENSP00000433759 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531630 ⟹ ENSP00000434316 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531726 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000606911 ⟹ ENSP00000476687 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001267578 ⟹ NP_001254507 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_015602 ⟹ NP_056417 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001254507 | (Get FASTA) | NCBI Sequence Viewer |
NP_056417 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH23247 | (Get FASTA) | NCBI Sequence Viewer |
BAA91906 | (Get FASTA) | NCBI Sequence Viewer | |
BAB13855 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14461 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84184 | (Get FASTA) | NCBI Sequence Viewer | |
CAB43282 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91067 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91068 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000271583.3 | ||
ENSP00000393292.3 | |||
ENSP00000393613.1 | |||
ENSP00000432717.1 | |||
ENSP00000433759.1 | |||
ENSP00000434316.2 | |||
ENSP00000435365 | |||
ENSP00000435365.2 | |||
ENSP00000476687 | |||
ENSP00000476687.1 | |||
GenBank Protein | Q5JTV8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_056417 ⟸ NM_015602 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9NV52 (UniProtKB/Swiss-Prot), Q9HAJ1 (UniProtKB/Swiss-Prot), Q9H8Y6 (UniProtKB/Swiss-Prot), Q8IZ65 (UniProtKB/Swiss-Prot), Q5JTV6 (UniProtKB/Swiss-Prot), B0QZ57 (UniProtKB/Swiss-Prot), A8K630 (UniProtKB/Swiss-Prot), A0A0A0MSK5 (UniProtKB/Swiss-Prot), Q9Y3X5 (UniProtKB/Swiss-Prot), Q5JTV8 (UniProtKB/Swiss-Prot), J3KN66 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001254507 ⟸ NM_001267578 |
- Peptide Label: | isoform 1 |
- UniProtKB: | J3KN66 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000434316 ⟸ ENST00000531630 |
RefSeq Acc Id: | ENSP00000271583 ⟸ ENST00000271583 |
RefSeq Acc Id: | ENSP00000393613 ⟸ ENST00000447964 |
RefSeq Acc Id: | ENSP00000432717 ⟸ ENST00000527391 |
RefSeq Acc Id: | ENSP00000435365 ⟸ ENST00000528443 |
RefSeq Acc Id: | ENSP00000393292 ⟸ ENST00000435319 |
RefSeq Acc Id: | ENSP00000476687 ⟸ ENST00000606911 |
RefSeq Acc Id: | ENSP00000433759 ⟸ ENST00000529091 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5JTV8-F1-model_v2 | AlphaFold | Q5JTV8 | 1-583 | view protein structure |
RGD ID: | 6785259 | ||||||||
Promoter ID: | HG_KWN:6384 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000325993, ENST00000367610, ENST00000398836, NM_015602, UC001GNP.1 | ||||||||
Position: |
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RGD ID: | 6787050 | ||||||||
Promoter ID: | HG_KWN:6385 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000100312 | ||||||||
Position: |
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RGD ID: | 6858270 | ||||||||
Promoter ID: | EPDNEW_H2300 | ||||||||
Type: | initiation region | ||||||||
Name: | TOR1AIP1_1 | ||||||||
Description: | torsin 1A interacting protein 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2301 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6858272 | ||||||||
Promoter ID: | EPDNEW_H2301 | ||||||||
Type: | initiation region | ||||||||
Name: | TOR1AIP1_2 | ||||||||
Description: | torsin 1A interacting protein 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2300 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:29456 | AgrOrtholog |
COSMIC | TOR1AIP1 | COSMIC |
Ensembl Genes | ENSG00000143337 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000271583.7 | UniProtKB/TrEMBL |
ENST00000435319.8 | UniProtKB/Swiss-Prot | |
ENST00000447964.1 | UniProtKB/TrEMBL | |
ENST00000527391.5 | UniProtKB/TrEMBL | |
ENST00000528443 | ENTREZGENE | |
ENST00000528443.6 | UniProtKB/Swiss-Prot | |
ENST00000529091.5 | UniProtKB/TrEMBL | |
ENST00000531630.6 | UniProtKB/TrEMBL | |
ENST00000606911 | ENTREZGENE | |
ENST00000606911.7 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.50.12190 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000143337 | GTEx |
HGNC ID | HGNC:29456 | ENTREZGENE |
Human Proteome Map | TOR1AIP1 | Human Proteome Map |
InterPro | Lamina-ass_polypeptide_CLAP1C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
LAP1C-like_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TOIP1/2_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TOIP1/2_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:26092 | UniProtKB/Swiss-Prot |
NCBI Gene | 26092 | ENTREZGENE |
OMIM | 614512 | OMIM |
PANTHER | PTHR18843 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TORSIN-1A-INTERACTING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | LAP1_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
LAP1C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA142670715 | PharmGKB |
UniProt | A0A0A0MSK5 | ENTREZGENE |
A8K630 | ENTREZGENE | |
B0QZ57 | ENTREZGENE | |
H0Y4R4_HUMAN | UniProtKB/TrEMBL | |
H0YD16_HUMAN | UniProtKB/TrEMBL | |
H0YDJ8_HUMAN | UniProtKB/TrEMBL | |
H0YDU3_HUMAN | UniProtKB/TrEMBL | |
J3KN66 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5JTV6 | ENTREZGENE | |
Q5JTV8 | ENTREZGENE | |
Q8IZ65 | ENTREZGENE | |
Q9H8Y6 | ENTREZGENE | |
Q9HAJ1 | ENTREZGENE | |
Q9NV52 | ENTREZGENE | |
Q9Y3X5 | ENTREZGENE | |
TOIP1_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A0A0A0MSK5 | UniProtKB/Swiss-Prot |
A8K630 | UniProtKB/Swiss-Prot | |
B0QZ57 | UniProtKB/Swiss-Prot | |
Q5JTV6 | UniProtKB/Swiss-Prot | |
Q8IZ65 | UniProtKB/Swiss-Prot | |
Q9H8Y6 | UniProtKB/Swiss-Prot | |
Q9HAJ1 | UniProtKB/Swiss-Prot | |
Q9NV52 | UniProtKB/Swiss-Prot | |
Q9Y3X5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-02 | TOR1AIP1 | torsin 1A interacting protein 1 | TOR1AIP1 | torsin A interacting protein 1 | Symbol and/or name change | 5135510 | APPROVED |