NM_014014.5(SNRNP200):c.732C>G (p.Leu244=) |
single nucleotide variant |
not provided [RCV001412343] |
Chr2:96298965 [GRCh38] Chr2:96964703 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV000032962] |
Chr2:96287959 [GRCh38] Chr2:96953697 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV000032963] |
Chr2:96290415 [GRCh38] Chr2:96956153 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001075824]|Retinitis pigmentosa 33 [RCV000008390]|Retinitis pigmentosa [RCV000505052]|not provided [RCV001091895] |
Chr2:96287968 [GRCh38] Chr2:96953706 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) |
single nucleotide variant |
Retinal dystrophy [RCV000225495]|Retinitis pigmentosa [RCV000132668] |
Chr2:96293481 [GRCh38] Chr2:96959219 [GRCh37] Chr2:2q11.2 |
likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) |
single nucleotide variant |
Retinal dystrophy [RCV001073690]|Retinitis pigmentosa 33 [RCV001376490]|Retinitis pigmentosa [RCV000132669]|not provided [RCV001206818] |
Chr2:96293090 [GRCh38] Chr2:96958828 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic |
NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132670] |
Chr2:96293085 [GRCh38] Chr2:96958823 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_014014.5(SNRNP200):c.1016G>A (p.Ser339Asn) |
single nucleotide variant |
not provided [RCV000520550] |
Chr2:96298387 [GRCh38] Chr2:96964125 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.841G>A (p.Val281Met) |
single nucleotide variant |
Retinal dystrophy [RCV001074428]|not provided [RCV000519885] |
Chr2:96298856 [GRCh38] Chr2:96964594 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3 |
copy number gain |
Global developmental delay [RCV000050366]|See cases [RCV000050366] |
Chr2:95879602..97029672 [GRCh38] Chr2:96545350..97695409 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1 |
copy number loss |
See cases [RCV000051260] |
Chr2:95879602..97285797 [GRCh38] Chr2:96545350..98013866 [GRCh37] Chr2:95909077..97380005 [NCBI36] Chr2:2q11.1-11.2 |
pathogenic |
GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1 |
copy number loss |
See cases [RCV000051137] |
Chr2:96100812..97285797 [GRCh38] Chr2:96766560..98013866 [GRCh37] Chr2:96130287..97380005 [NCBI36] Chr2:2q11.2 |
pathogenic |
GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3 |
copy number gain |
See cases [RCV000053136] |
Chr2:95806265..97285797 [GRCh38] Chr2:96472013..98013866 [GRCh37] Chr2:95835740..97380005 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3 |
copy number gain |
See cases [RCV000053137] |
Chr2:95810453..97024341 [GRCh38] Chr2:96476201..97690078 [GRCh37] Chr2:95839928..97053805 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3 |
copy number gain |
See cases [RCV000053138] |
Chr2:95880668..97131646 [GRCh38] Chr2:96546416..97797383 [GRCh37] Chr2:95910143..97161110 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3 |
copy number gain |
See cases [RCV000053139] |
Chr2:95916534..97024341 [GRCh38] Chr2:96582282..97690078 [GRCh37] Chr2:95946009..97053805 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.2(chr2:96100612-97285797)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053140]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053140]|See cases [RCV000053140] |
Chr2:96100612..97285797 [GRCh38] Chr2:96766360..98014007 [GRCh37] Chr2:96130087..97380146 [NCBI36] Chr2:2q11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 |
copy number gain |
See cases [RCV000052946] |
Chr2:94817406..103252396 [GRCh38] Chr2:95618109..103868854 [GRCh37] Chr2:94846878..103235286 [NCBI36] Chr2:2q11.1-12.1 |
pathogenic |
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 |
copy number gain |
See cases [RCV000052945] |
Chr2:91443218..102334856 [GRCh38] Chr2:91617683..102951316 [GRCh37] Chr2:90981410..102317748 [NCBI36] Chr2:2p11.2-q11.2 |
pathogenic |
NM_014014.4(SNRNP200):c.4612C>T (p.Arg1538Cys) |
single nucleotide variant |
Malignant melanoma [RCV000065720] |
Chr2:96283686 [GRCh38] Chr2:96949424 [GRCh37] Chr2:96313151 [NCBI36] Chr2:2q11.2 |
not provided |
NM_014014.4(SNRNP200):c.5673C>T (p.Thr1891=) |
single nucleotide variant |
Malignant melanoma [RCV000060630] |
Chr2:96277888 [GRCh38] Chr2:96943626 [GRCh37] Chr2:96307353 [NCBI36] Chr2:2q11.2 |
not provided |
NM_014014.4(SNRNP200):c.3534C>T (p.Val1178=) |
single nucleotide variant |
Malignant melanoma [RCV000060631] |
Chr2:96287111 [GRCh38] Chr2:96952849 [GRCh37] Chr2:96316576 [NCBI36] Chr2:2q11.2 |
not provided |
NM_014014.5(SNRNP200):c.2715C>T (p.Ile905=) |
single nucleotide variant |
not provided [RCV002609762] |
Chr2:96290353 [GRCh38] Chr2:96956091 [GRCh37] Chr2:96319818 [NCBI36] Chr2:2q11.2 |
likely benign|not provided |
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000266740]|not provided [RCV000081582] |
Chr2:96289811 [GRCh38] Chr2:96955549 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV000986789]|not provided [RCV000953243]|not specified [RCV000081583] |
Chr2:96284585 [GRCh38] Chr2:96950323 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) |
single nucleotide variant |
Retinitis pigmentosa [RCV000348270]|not provided [RCV000950082]|not specified [RCV000173853] |
Chr2:96297681 [GRCh38] Chr2:96963419 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) |
single nucleotide variant |
Autosomal dominant retinitis pigmentosa [RCV001257804]|Retinal dystrophy [RCV003888607]|not provided [RCV000171298] |
Chr2:96290475 [GRCh38] Chr2:96956213 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) |
single nucleotide variant |
Retinal dystrophy [RCV004816277]|Retinitis pigmentosa 33 [RCV001000443]|Retinitis pigmentosa [RCV001138954]|not provided [RCV000910812]|not specified [RCV000176312] |
Chr2:96289315 [GRCh38] Chr2:96955053 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) |
single nucleotide variant |
Retinal dystrophy [RCV003888630]|Retinitis pigmentosa 33 [RCV002492765]|Retinitis pigmentosa [RCV000368460]|not provided [RCV000951240]|not specified [RCV000176880] |
Chr2:96286863 [GRCh38] Chr2:96952601 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000308320]|not provided [RCV000908600]|not specified [RCV000179939] |
Chr2:96298965 [GRCh38] Chr2:96964703 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001001885]|Retinitis pigmentosa [RCV000386192]|not provided [RCV000884978]|not specified [RCV000178471] |
Chr2:96277704 [GRCh38] Chr2:96943442 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.1468C>T (p.Arg490Cys) |
single nucleotide variant |
not provided [RCV001303609] |
Chr2:96296980 [GRCh38] Chr2:96962718 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001138853]|not provided [RCV000948600]|not specified [RCV000178444] |
Chr2:96277897 [GRCh38] Chr2:96943635 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.3278G>A (p.Arg1093Gln) |
single nucleotide variant |
not provided [RCV001303357] |
Chr2:96287950 [GRCh38] Chr2:96953688 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3 |
copy number gain |
See cases [RCV000133839] |
Chr2:95493468..96977610 [GRCh38] Chr2:96159216..97643347 [GRCh37] Chr2:95522943..97007074 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3 |
copy number gain |
See cases [RCV000050366] |
Chr2:95879602..97029672 [GRCh38] Chr2:96545350..97695409 [GRCh37] Chr2:95909077..97059136 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1 |
copy number loss |
See cases [RCV000134141] |
Chr2:95879602..97029672 [GRCh38] Chr2:96545350..97695409 [GRCh37] Chr2:95909077..97059136 [NCBI36] Chr2:2q11.1-11.2 |
pathogenic |
GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1 |
copy number loss |
See cases [RCV000135343] |
Chr2:96073560..97062710 [GRCh38] Chr2:96739308..97728447 [GRCh37] Chr2:96103035..97092174 [NCBI36] Chr2:2q11.2 |
pathogenic |
GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1 |
copy number loss |
See cases [RCV000137012] |
Chr2:96100812..97154835 [GRCh38] Chr2:96766560..97820572 [GRCh37] Chr2:96130287..97184299 [NCBI36] Chr2:2q11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 |
copy number gain |
See cases [RCV000138012] |
Chr2:95337458..99072953 [GRCh38] Chr2:96003206..99689416 [GRCh37] Chr2:95366933..99055848 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3 |
copy number gain |
See cases [RCV000137817] |
Chr2:95766541..97589743 [GRCh38] Chr2:96432289..98206206 [GRCh37] Chr2:95796016..97572638 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 |
copy number gain |
See cases [RCV000141075] |
Chr2:94678532..110602409 [GRCh38] Chr2:95344257..111359986 [GRCh37] Chr2:94707984..111076455 [NCBI36] Chr2:2q11.1-13 |
pathogenic |
GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3 |
copy number gain |
See cases [RCV000142146] |
Chr2:96066771..97285797 [GRCh38] Chr2:96732519..98079569 [GRCh37] Chr2:96096246..97432433 [NCBI36] Chr2:2q11.2 |
uncertain significance |
GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3 |
copy number gain |
See cases [RCV000142814] |
Chr2:96100816..97285797 [GRCh38] Chr2:96766564..98013954 [GRCh37] Chr2:96130291..97380093 [NCBI36] Chr2:2q11.2 |
uncertain significance |
GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1 |
copy number loss |
See cases [RCV000142800] |
Chr2:96073560..97513144 [GRCh38] Chr2:96739308..98066294 [GRCh37] Chr2:96103035..97496039 [NCBI36] Chr2:2q11.2 |
pathogenic |
GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3 |
copy number gain |
See cases [RCV000143142] |
Chr2:96073560..97589743 [GRCh38] Chr2:96739308..98206206 [GRCh37] Chr2:96103035..97572638 [NCBI36] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003907457]|not provided [RCV000153984] |
Chr2:96278327 [GRCh38] Chr2:96944065 [GRCh37] Chr2:2q11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) |
single nucleotide variant |
Retinal dystrophy [RCV003888596]|Retinitis pigmentosa 33 [RCV001000085]|Retinitis pigmentosa [RCV000376441]|not provided [RCV000756671]|not specified [RCV000153985] |
Chr2:96289939 [GRCh38] Chr2:96955677 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4172T>G (p.Met1391Arg) |
single nucleotide variant |
not provided [RCV000177564] |
Chr2:96284578 [GRCh38] Chr2:96950316 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.390T>C (p.Asp130=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000262731]|not provided [RCV001438577] |
Chr2:96301708 [GRCh38] Chr2:96967446 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.6025C>T (p.Arg2009Cys) |
single nucleotide variant |
Retinal dystrophy [RCV003888808]|Retinitis pigmentosa [RCV000263386] |
Chr2:96277148 [GRCh38] Chr2:96942886 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val) |
single nucleotide variant |
Retinal dystrophy [RCV000225590]|not provided [RCV001296365] |
Chr2:96289860 [GRCh38] Chr2:96955598 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) |
single nucleotide variant |
Retinal dystrophy [RCV003889973]|Retinitis pigmentosa [RCV001141440]|not provided [RCV000756672] |
Chr2:96283577 [GRCh38] Chr2:96949315 [GRCh37] Chr2:2q11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.2665A>G (p.Ile889Val) |
single nucleotide variant |
Retinitis pigmentosa [RCV000284209]|not provided [RCV001861159] |
Chr2:96290403 [GRCh38] Chr2:96956141 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4786G>A (p.Asp1596Asn) |
single nucleotide variant |
Retinitis pigmentosa [RCV000286298] |
Chr2:96283330 [GRCh38] Chr2:96949068 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.46-7T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000280276]|not provided [RCV000921234] |
Chr2:96304875 [GRCh38] Chr2:96970613 [GRCh37] Chr2:2q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.5665G>A (p.Val1889Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV000275430]|not provided [RCV001217629] |
Chr2:96277896 [GRCh38] Chr2:96943634 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.651C>T (p.Tyr217=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000268539]|not provided [RCV001498030] |
Chr2:96299407 [GRCh38] Chr2:96965145 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala) |
single nucleotide variant |
Retinitis pigmentosa [RCV000276701]|not provided [RCV000974500]|not specified [RCV000596657] |
Chr2:96277240 [GRCh38] Chr2:96942978 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.4029C>T (p.Asp1343=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000277332]|not provided [RCV001453112] |
Chr2:96285315 [GRCh38] Chr2:96951053 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2268A>G (p.Ser756=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000278178]|not provided [RCV001436501] |
Chr2:96291793 [GRCh38] Chr2:96957531 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4080A>T (p.Ala1360=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000298343]|not provided [RCV000911251] |
Chr2:96285264 [GRCh38] Chr2:96951002 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4448G>A (p.Arg1483Gln) |
single nucleotide variant |
Retinitis pigmentosa [RCV000299595]|not provided [RCV005055900] |
Chr2:96283949 [GRCh38] Chr2:96949687 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001286857]|Retinitis pigmentosa [RCV000334032]|not provided [RCV001517702] |
Chr2:96277695 [GRCh38] Chr2:96943433 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.2422-8C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000375083]|not provided [RCV000961969] |
Chr2:96290823 [GRCh38] Chr2:96956561 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.5943T>C (p.Ser1981=) |
single nucleotide variant |
Retinal dystrophy [RCV003888809]|Retinitis pigmentosa [RCV000354769]|SNRNP200-related disorder [RCV003932344]|not provided [RCV000899761] |
Chr2:96277230 [GRCh38] Chr2:96942968 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.6174+4C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000355841]|not provided [RCV001865225] |
Chr2:96276900 [GRCh38] Chr2:96942638 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5134-6C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000378398]|SNRNP200-related disorder [RCV004757208]|not provided [RCV000979613] |
Chr2:96279004 [GRCh38] Chr2:96944742 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.2542G>A (p.Asp848Asn) |
single nucleotide variant |
Retinitis pigmentosa [RCV000318259]|not provided [RCV001203835] |
Chr2:96290695 [GRCh38] Chr2:96956433 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003278777]|Retinitis pigmentosa [RCV000403123]|not provided [RCV001060574] |
Chr2:96283620 [GRCh38] Chr2:96949358 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.210-11A>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000319648]|not provided [RCV001523462] |
Chr2:96303341 [GRCh38] Chr2:96969079 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000339024]|SNRNP200-related disorder [RCV004757209]|not provided [RCV000597447] |
Chr2:96283570 [GRCh38] Chr2:96949308 [GRCh37] Chr2:2q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His) |
single nucleotide variant |
Inborn genetic diseases [RCV002519995]|Retinal dystrophy [RCV003888812]|Retinitis pigmentosa [RCV000404781]|not provided [RCV001321090] |
Chr2:96297692 [GRCh38] Chr2:96963430 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.5386C>T (p.Leu1796=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000287687]|not provided [RCV000961968] |
Chr2:96278649 [GRCh38] Chr2:96944387 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.*61T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000305010] |
Chr2:96274951 [GRCh38] Chr2:96940689 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.574+9G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000359788]|not provided [RCV000901897] |
Chr2:96301515 [GRCh38] Chr2:96967253 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.*101A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000405843] |
Chr2:96274911 [GRCh38] Chr2:96940649 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) |
single nucleotide variant |
Retinal dystrophy [RCV003888813]|Retinitis pigmentosa 33 [RCV001000577]|Retinitis pigmentosa [RCV000360735]|not provided [RCV000892052] |
Chr2:96299335 [GRCh38] Chr2:96965073 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.*331G>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000384016] |
Chr2:96274681 [GRCh38] Chr2:96940419 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000384407]|not provided [RCV000997183] |
Chr2:96278626 [GRCh38] Chr2:96944364 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.*257C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000291920] |
Chr2:96274755 [GRCh38] Chr2:96940493 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.4(SNRNP200):c.-114T>C |
single nucleotide variant |
Retinitis Pigmentosa, Dominant [RCV000408344] |
Chr2:96305551 [GRCh38] Chr2:96971289 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000343558]|not provided [RCV000591814] |
Chr2:96275054 [GRCh38] Chr2:96940792 [GRCh37] Chr2:2q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.-81C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000293135] |
Chr2:96305518 [GRCh38] Chr2:96971256 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.1098C>T (p.Thr366=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000308717]|not provided [RCV001438836] |
Chr2:96298305 [GRCh38] Chr2:96964043 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=) |
single nucleotide variant |
Retinal dystrophy [RCV003888811]|Retinitis pigmentosa 33 [RCV001808772]|Retinitis pigmentosa [RCV000325542]|not provided [RCV001521776] |
Chr2:96287095 [GRCh38] Chr2:96952833 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.5317C>T (p.Leu1773=) |
single nucleotide variant |
Retinal dystrophy [RCV003888810]|Retinitis pigmentosa 33 [RCV001808771]|Retinitis pigmentosa [RCV000344985]|not provided [RCV001520900] |
Chr2:96278815 [GRCh38] Chr2:96944553 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.-58C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000389795] |
Chr2:96305495 [GRCh38] Chr2:96971233 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.5418C>T (p.Asp1806=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000327474]|not provided [RCV000880757] |
Chr2:96278617 [GRCh38] Chr2:96944355 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.4056G>A (p.Thr1352=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000369636]|not provided [RCV001369757] |
Chr2:96285288 [GRCh38] Chr2:96951026 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1854T>C (p.His618=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000392762]|not provided [RCV000882309] |
Chr2:96293498 [GRCh38] Chr2:96959236 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3744C>T (p.Asp1248=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000311476]|not provided [RCV002519994] |
Chr2:96286773 [GRCh38] Chr2:96952511 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.-95G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000350302] |
Chr2:96305532 [GRCh38] Chr2:96971270 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV002488724]|Retinitis pigmentosa [RCV000297526]|not provided [RCV001521566] |
Chr2:96277190 [GRCh38] Chr2:96942928 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.3632A>G (p.Asp1211Gly) |
single nucleotide variant |
Retinitis pigmentosa [RCV000272770]|not provided [RCV001295540] |
Chr2:96287013 [GRCh38] Chr2:96952751 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.*497_*498dup |
duplication |
Retinitis Pigmentosa, Dominant [RCV000387622] |
Chr2:96274513..96274514 [GRCh38] Chr2:96940251..96940252 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=) |
single nucleotide variant |
not provided [RCV000407368] |
Chr2:96287874 [GRCh38] Chr2:96953612 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.4942C>T (p.Arg1648Trp) |
single nucleotide variant |
not provided [RCV000489492] |
Chr2:96281896 [GRCh38] Chr2:96947634 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6203T>A (p.Ile2068Asn) |
single nucleotide variant |
Retinitis pigmentosa [RCV000303842] |
Chr2:96275321 [GRCh38] Chr2:96941059 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3258+12G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000363900]|not provided [RCV005055901] |
Chr2:96288651 [GRCh38] Chr2:96954389 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.808C>A (p.Arg270=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000402791] |
Chr2:96298889 [GRCh38] Chr2:96964627 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.-27G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000332925] |
Chr2:96305464 [GRCh38] Chr2:96971202 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.*333G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000348345] |
Chr2:96274679 [GRCh38] Chr2:96940417 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=) |
single nucleotide variant |
Retinal dystrophy [RCV001074984]|Retinitis pigmentosa [RCV000404472] |
Chr2:96275132 [GRCh38] Chr2:96940870 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.972C>T (p.His324=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000366569] |
Chr2:96298613 [GRCh38] Chr2:96964351 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1498C>T (p.Leu500=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000295657] |
Chr2:96296950 [GRCh38] Chr2:96962688 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.*337G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000295729] |
Chr2:96274675 [GRCh38] Chr2:96940413 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.631-4A>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000321282] |
Chr2:96299431 [GRCh38] Chr2:96965169 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2222T>C (p.Met741Thr) |
single nucleotide variant |
Retinitis pigmentosa [RCV000335688] |
Chr2:96291839 [GRCh38] Chr2:96957577 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4424G>A (p.Arg1475His) |
single nucleotide variant |
Retinitis pigmentosa [RCV000338165] |
Chr2:96283973 [GRCh38] Chr2:96949711 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.93C>T (p.Thr31=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000372051]|not provided [RCV001451750] |
Chr2:96304821 [GRCh38] Chr2:96970559 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2839C>G (p.Pro947Ala) |
single nucleotide variant |
Retinitis pigmentosa [RCV000324176] |
Chr2:96289900 [GRCh38] Chr2:96955638 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.*209T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000344484] |
Chr2:96274803 [GRCh38] Chr2:96940541 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6093-7C>A |
single nucleotide variant |
not provided [RCV000593222] |
Chr2:96276992 [GRCh38] Chr2:96942730 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.2927C>T (p.Thr976Met) |
single nucleotide variant |
Retinitis pigmentosa [RCV001138955]|not provided [RCV005056926] |
Chr2:96289812 [GRCh38] Chr2:96955550 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3268C>T (p.Arg1090Trp) |
single nucleotide variant |
not provided [RCV000523897] |
Chr2:96287960 [GRCh38] Chr2:96953698 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3444C>T (p.Phe1148=) |
single nucleotide variant |
not provided [RCV000734468] |
Chr2:96287479 [GRCh38] Chr2:96953217 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1627C>T (p.Pro543Ser) |
single nucleotide variant |
not provided [RCV000416140] |
Chr2:96296580 [GRCh38] Chr2:96962318 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=) |
single nucleotide variant |
not provided [RCV000728994] |
Chr2:96281903 [GRCh38] Chr2:96947641 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly) |
single nucleotide variant |
not provided [RCV000728999] |
Chr2:96277091 [GRCh38] Chr2:96942829 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) |
copy number gain |
See cases [RCV000449270] |
Chr2:95529039..108518266 [GRCh37] Chr2:2q11.1-12.3 |
pathogenic |
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 |
copy number gain |
See cases [RCV000446842] |
Chr2:95327499..111370025 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
GRCh37/hg19 2q11.1-11.2(chr2:96544602-98118115)x1 |
copy number loss |
See cases [RCV000446002] |
Chr2:96544602..98118115 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96698012-97757442)x3 |
copy number gain |
See cases [RCV000445685] |
Chr2:96698012..97757442 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh37/hg19 2q11.2(chr2:96956288-96994024)x3 |
copy number gain |
See cases [RCV000445694] |
Chr2:96956288..96994024 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) |
copy number gain |
See cases [RCV000447723] |
Chr2:95691600..100587394 [GRCh37] Chr2:2q11.1-11.2 |
pathogenic |
NC_000002.11:g.(?_96738407)_(97742073_?)del |
deletion |
Schizophrenia [RCV000416822] |
Chr2:96738407..97742073 [GRCh37] Chr2:96102134..97105800 [NCBI36] Chr2:2q11.1-11.2 |
likely pathogenic |
GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3 |
copy number gain |
See cases [RCV000448583] |
Chr2:96778661..97757978 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile) |
single nucleotide variant |
not provided [RCV000485728] |
Chr2:96296626 [GRCh38] Chr2:96962364 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3 |
copy number gain |
See cases [RCV000511375] |
Chr2:96468158..97871906 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
GRCh37/hg19 2q11.1-11.2(chr2:96097383-97679933)x1 |
copy number loss |
See cases [RCV000511715] |
Chr2:96097383..97679933 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96732519-98225552)x3 |
copy number gain |
See cases [RCV000511635] |
Chr2:96732519..98225552 [GRCh37] Chr2:2q11.1-11.2 |
likely benign |
GRCh37/hg19 2q11.1-11.2(chr2:96712139-98249638)x1 |
copy number loss |
See cases [RCV000511596] |
Chr2:96712139..98249638 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) |
copy number gain |
See cases [RCV000511158] |
Chr2:95518497..107186127 [GRCh37] Chr2:2q11.1-12.2 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001143285]|not provided [RCV000596259]|not specified [RCV001701054] |
Chr2:96286417 [GRCh38] Chr2:96952155 [GRCh37] Chr2:2q11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.5009A>G (p.Asn1670Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003308549] |
Chr2:96281829 [GRCh38] Chr2:96947567 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3133C>A (p.Pro1045Thr) |
single nucleotide variant |
Rod-cone dystrophy [RCV000626914]|SNRNP200-related disorder [RCV004757266]|not provided [RCV001238714] |
Chr2:96289078 [GRCh38] Chr2:96954816 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3721C>T (p.Leu1241Phe) |
single nucleotide variant |
not provided [RCV000585105] |
Chr2:96286796 [GRCh38] Chr2:96952534 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5489-2A>G |
single nucleotide variant |
Rod-cone dystrophy [RCV000626915] |
Chr2:96278360 [GRCh38] Chr2:96944098 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1 |
copy number loss |
not provided [RCV000682130] |
Chr2:96735977..98258828 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
GRCh37/hg19 2q11.1-11.2(chr2:96544602-98138405)x1 |
copy number loss |
not provided [RCV000682132] |
Chr2:96544602..98138405 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 |
copy number gain |
not provided [RCV000682168] |
Chr2:96353030..114045463 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu) |
single nucleotide variant |
Retinitis pigmentosa [RCV001003225] |
Chr2:96293090 [GRCh38] Chr2:96958828 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001005002] |
Chr2:96290799 [GRCh38] Chr2:96956537 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NC_000002.12:g.(?_96063558)_(97079140_?)del |
deletion |
Schizophrenia [RCV000754268] |
Chr2:96063558..97079140 [GRCh38] Chr2:2q11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.3735C>T (p.Tyr1245=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003950450]|not provided [RCV000895074] |
Chr2:96286782 [GRCh38] Chr2:96952520 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2951T>C (p.Leu984Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003268456]|Retinitis pigmentosa 33 [RCV004786913] |
Chr2:96289369 [GRCh38] Chr2:96955107 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3614C>T (p.Thr1205Met) |
single nucleotide variant |
Retinal dystrophy [RCV004815593]|not provided [RCV001699722] |
Chr2:96287031 [GRCh38] Chr2:96952769 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly) |
single nucleotide variant |
Retinitis pigmentosa [RCV001136810]|not provided [RCV001058052] |
Chr2:96301050 [GRCh38] Chr2:96966788 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) |
single nucleotide variant |
Retinal dystrophy [RCV003889983]|Retinitis pigmentosa 33 [RCV001002103]|Retinitis pigmentosa [RCV000787717]|not provided [RCV001042854] |
Chr2:96293091 [GRCh38] Chr2:96958829 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic |
NM_014014.5(SNRNP200):c.210-5A>G |
single nucleotide variant |
Stargardt disease [RCV000787886] |
Chr2:96303335 [GRCh38] Chr2:96969073 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp) |
single nucleotide variant |
Retinitis pigmentosa [RCV001724828] |
Chr2:96295626 [GRCh38] Chr2:96961364 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.3663T>C (p.Phe1221=) |
single nucleotide variant |
not provided [RCV000927963] |
Chr2:96286854 [GRCh38] Chr2:96952592 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.90G>C (p.Arg30=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001139054]|SNRNP200-related disorder [RCV003930491]|not provided [RCV000879929] |
Chr2:96304824 [GRCh38] Chr2:96970562 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.273G>A (p.Ser91=) |
single nucleotide variant |
not provided [RCV000905071] |
Chr2:96303267 [GRCh38] Chr2:96969005 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.2868G>A (p.Leu956=) |
single nucleotide variant |
not provided [RCV000926783] |
Chr2:96289871 [GRCh38] Chr2:96955609 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4692G>A (p.Pro1564=) |
single nucleotide variant |
not provided [RCV000905753] |
Chr2:96283606 [GRCh38] Chr2:96949344 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.696C>T (p.Asp232=) |
single nucleotide variant |
not provided [RCV000879603] |
Chr2:96299362 [GRCh38] Chr2:96965100 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.840C>T (p.Ile280=) |
single nucleotide variant |
not provided [RCV000922632] |
Chr2:96298857 [GRCh38] Chr2:96964595 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001075309]|not provided [RCV001091897] |
Chr2:96293066 [GRCh38] Chr2:96958804 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic |
NM_014014.5(SNRNP200):c.2549T>C (p.Leu850Pro) |
single nucleotide variant |
Retinal dystrophy [RCV001075414] |
Chr2:96290688 [GRCh38] Chr2:96956426 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3175-8C>G |
single nucleotide variant |
Retinal dystrophy [RCV001075430]|not provided [RCV002554757] |
Chr2:96288754 [GRCh38] Chr2:96954492 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1485G>A (p.Thr495=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001143386]|not provided [RCV001037402] |
Chr2:96296963 [GRCh38] Chr2:96962701 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1741A>G (p.Ser581Gly) |
single nucleotide variant |
not provided [RCV001043930] |
Chr2:96295589 [GRCh38] Chr2:96961327 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.662G>A (p.Arg221Gln) |
single nucleotide variant |
not provided [RCV001071555] |
Chr2:96299396 [GRCh38] Chr2:96965134 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.210-8T>G |
single nucleotide variant |
Retinal dystrophy [RCV001075863]|not provided [RCV001302258] |
Chr2:96303338 [GRCh38] Chr2:96969076 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1538C>T (p.Ala513Val) |
single nucleotide variant |
not provided [RCV001053322] |
Chr2:96296669 [GRCh38] Chr2:96962407 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5467T>G (p.Tyr1823Asp) |
single nucleotide variant |
not provided [RCV001040661] |
Chr2:96278568 [GRCh38] Chr2:96944306 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2744A>G (p.Asp915Gly) |
single nucleotide variant |
not provided [RCV001046455] |
Chr2:96289995 [GRCh38] Chr2:96955733 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1733A>C (p.Glu578Ala) |
single nucleotide variant |
Retinal dystrophy [RCV001073461] |
Chr2:96295597 [GRCh38] Chr2:96961335 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NC_000002.11:g.(?_96780545)_(96971175_?)dup |
duplication |
not provided [RCV001031839] |
Chr2:96780545..96971175 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.338A>G (p.Tyr113Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001073794] |
Chr2:96303202 [GRCh38] Chr2:96968940 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NC_000002.11:g.(?_96780545)_(96994037_?)dup |
duplication |
not provided [RCV001031880] |
Chr2:96780545..96994037 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1516G>T (p.Gly506Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001074051]|not provided [RCV001862818] |
Chr2:96296691 [GRCh38] Chr2:96962429 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1671+4A>G |
single nucleotide variant |
not provided [RCV001070092] |
Chr2:96296532 [GRCh38] Chr2:96962270 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) |
single nucleotide variant |
Retinitis pigmentosa [RCV000986790] |
Chr2:96291878 [GRCh38] Chr2:96957616 [GRCh37] Chr2:2q11.2 |
likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu) |
single nucleotide variant |
Retinitis pigmentosa [RCV000986791]|not provided [RCV001858653] |
Chr2:96297043 [GRCh38] Chr2:96962781 [GRCh37] Chr2:2q11.2 |
likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.4042G>A (p.Val1348Met) |
single nucleotide variant |
Retinal dystrophy [RCV001074492] |
Chr2:96285302 [GRCh38] Chr2:96951040 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4764-6G>A |
single nucleotide variant |
Retinal dystrophy [RCV001074544]|not provided [RCV001452679] |
Chr2:96283358 [GRCh38] Chr2:96949096 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3169G>A (p.Ala1057Thr) |
single nucleotide variant |
not provided [RCV001043053] |
Chr2:96289042 [GRCh38] Chr2:96954780 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4034A>G (p.Asn1345Ser) |
single nucleotide variant |
not provided [RCV001063043] |
Chr2:96285310 [GRCh38] Chr2:96951048 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.574+10C>A |
single nucleotide variant |
Retinal dystrophy [RCV001074722] |
Chr2:96301514 [GRCh38] Chr2:96967252 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4839G>C (p.Leu1613=) |
single nucleotide variant |
Retinal dystrophy [RCV001074958] |
Chr2:96283277 [GRCh38] Chr2:96949015 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1120-8C>T |
single nucleotide variant |
not provided [RCV000895190] |
Chr2:96297728 [GRCh38] Chr2:96963466 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5538C>T (p.Ile1846=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001138854]|not provided [RCV000960009]|not specified [RCV001701379] |
Chr2:96278309 [GRCh38] Chr2:96944047 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.351C>G (p.Leu117=) |
single nucleotide variant |
not provided [RCV000943060] |
Chr2:96303189 [GRCh38] Chr2:96968927 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5796C>T (p.Ser1932=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003895729]|not provided [RCV000943171] |
Chr2:96277674 [GRCh38] Chr2:96943412 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3924C>T (p.Pro1308=) |
single nucleotide variant |
Retinal dystrophy [RCV003890026]|SNRNP200-related disorder [RCV003910656]|not provided [RCV000894917] |
Chr2:96286390 [GRCh38] Chr2:96952128 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.3273G>A (p.Leu1091=) |
single nucleotide variant |
not provided [RCV000981551] |
Chr2:96287955 [GRCh38] Chr2:96953693 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4584+10A>T |
single nucleotide variant |
not provided [RCV000902092] |
Chr2:96283803 [GRCh38] Chr2:96949541 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3876G>A (p.Pro1292=) |
single nucleotide variant |
not provided [RCV000884299] |
Chr2:96286438 [GRCh38] Chr2:96952176 [GRCh37] Chr2:2q11.2 |
benign |
GRCh37/hg19 2q11.2(chr2:96939073-97086456)x1 |
copy number loss |
not provided [RCV001005297] |
Chr2:96939073..97086456 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1 |
copy number loss |
See cases [RCV000790587] |
Chr2:96747466..98193473 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.3783G>A (p.Pro1261=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003960701]|not provided [RCV000959833] |
Chr2:96286734 [GRCh38] Chr2:96952472 [GRCh37] Chr2:2q11.2 |
likely benign |
GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1 |
copy number loss |
not provided [RCV001005295] |
Chr2:96712139..98254657 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1 |
copy number loss |
not provided [RCV000848564] |
Chr2:96552903..98118115 [GRCh37] Chr2:2q11.1-11.2 |
pathogenic |
NM_014014.5(SNRNP200):c.583A>G (p.Ile195Val) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199555]|not provided [RCV000997186] |
Chr2:96301045 [GRCh38] Chr2:96966783 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.423T>C (p.Ala141=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001136812]|not provided [RCV001517897] |
Chr2:96301675 [GRCh38] Chr2:96967413 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_014014.5(SNRNP200):c.5022C>T (p.His1674=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003958395]|not provided [RCV000917505] |
Chr2:96281816 [GRCh38] Chr2:96947554 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4233G>A (p.Glu1411=) |
single nucleotide variant |
not provided [RCV000916480] |
Chr2:96284517 [GRCh38] Chr2:96950255 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.162C>T (p.Asp54=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001139053] |
Chr2:96304752 [GRCh38] Chr2:96970490 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.87C>T (p.Asp29=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001139055]|SNRNP200-related disorder [RCV003953513]|not provided [RCV001472850] |
Chr2:96304827 [GRCh38] Chr2:96970565 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3428T>C (p.Ile1143Thr) |
single nucleotide variant |
not provided [RCV001061794] |
Chr2:96287495 [GRCh38] Chr2:96953233 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1770C>T (p.Pro590=) |
single nucleotide variant |
Retinal dystrophy [RCV003890022]|not provided [RCV000892761] |
Chr2:96295560 [GRCh38] Chr2:96961298 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.1204-4C>T |
single nucleotide variant |
not provided [RCV000914776] |
Chr2:96297540 [GRCh38] Chr2:96963278 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.767A>C (p.Lys256Thr) |
single nucleotide variant |
not provided [RCV000997185] |
Chr2:96298930 [GRCh38] Chr2:96964668 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3859C>T (p.Arg1287Trp) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199783]|not provided [RCV000997184] |
Chr2:96286455 [GRCh38] Chr2:96952193 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3 |
copy number gain |
not provided [RCV001005296] |
Chr2:96732519..98118115 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199784]|not provided [RCV001860550] |
Chr2:96277907 [GRCh38] Chr2:96943645 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.706G>A (p.Val236Met) |
single nucleotide variant |
not provided [RCV001241919] |
Chr2:96299352 [GRCh38] Chr2:96965090 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.343G>A (p.Val115Met) |
single nucleotide variant |
not provided [RCV001234492] |
Chr2:96303197 [GRCh38] Chr2:96968935 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6092+5G>C |
single nucleotide variant |
not provided [RCV001238260] |
Chr2:96277076 [GRCh38] Chr2:96942814 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2984A>G (p.Asn995Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003890353]|not provided [RCV001207598] |
Chr2:96289336 [GRCh38] Chr2:96955074 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001195947] |
Chr2:96295544 [GRCh38] Chr2:96961282 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96515883-98025634)x3 |
copy number gain |
not provided [RCV000845755] |
Chr2:96515883..98025634 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6092+3G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001136609] |
Chr2:96277078 [GRCh38] Chr2:96942816 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.781C>A (p.Arg261=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001143387]|not provided [RCV002557053] |
Chr2:96298916 [GRCh38] Chr2:96964654 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3130G>T (p.Val1044Leu) |
single nucleotide variant |
not provided [RCV001091896] |
Chr2:96289081 [GRCh38] Chr2:96954819 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.882+7C>T |
single nucleotide variant |
not provided [RCV003107198] |
Chr2:96298808 [GRCh38] Chr2:96964546 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1200A>T (p.Gly400=) |
single nucleotide variant |
Retinal dystrophy [RCV004814115] |
Chr2:96297640 [GRCh38] Chr2:96963378 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2940+4C>T |
single nucleotide variant |
not provided [RCV000910561] |
Chr2:96289795 [GRCh38] Chr2:96955533 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6309C>T (p.Asn2103=) |
single nucleotide variant |
not provided [RCV000933528] |
Chr2:96275114 [GRCh38] Chr2:96940852 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5427C>T (p.Asp1809=) |
single nucleotide variant |
not provided [RCV000922659] |
Chr2:96278608 [GRCh38] Chr2:96944346 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5652C>T (p.Phe1884=) |
single nucleotide variant |
not provided [RCV000925681] |
Chr2:96277909 [GRCh38] Chr2:96943647 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5490G>A (p.Glu1830=) |
single nucleotide variant |
not provided [RCV000909329] |
Chr2:96278357 [GRCh38] Chr2:96944095 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.447G>T (p.Arg149=) |
single nucleotide variant |
not provided [RCV000909330] |
Chr2:96301651 [GRCh38] Chr2:96967389 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4779C>T (p.Thr1593=) |
single nucleotide variant |
not provided [RCV000980621] |
Chr2:96283337 [GRCh38] Chr2:96949075 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5319G>T (p.Leu1773=) |
single nucleotide variant |
not provided [RCV000924051] |
Chr2:96278813 [GRCh38] Chr2:96944551 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001001899]|Retinitis pigmentosa [RCV001136710]|not provided [RCV000954077] |
Chr2:96287913 [GRCh38] Chr2:96953651 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.3690C>T (p.Ser1230=) |
single nucleotide variant |
Retinal dystrophy [RCV003890145]|not provided [RCV000982217] |
Chr2:96286827 [GRCh38] Chr2:96952565 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.4165-9G>A |
single nucleotide variant |
not provided [RCV000966290] |
Chr2:96284594 [GRCh38] Chr2:96950332 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.783G>C (p.Arg261=) |
single nucleotide variant |
not provided [RCV000954078] |
Chr2:96298914 [GRCh38] Chr2:96964652 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4764-7C>T |
single nucleotide variant |
not provided [RCV000906754] |
Chr2:96283359 [GRCh38] Chr2:96949097 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln) |
single nucleotide variant |
Retinal dystrophy [RCV004813848]|Retinitis pigmentosa 33 [RCV001198911]|not provided [RCV001227625] |
Chr2:96281895 [GRCh38] Chr2:96947633 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001199358] |
Chr2:96301541 [GRCh38] Chr2:96967279 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5077C>T (p.Arg1693Cys) |
single nucleotide variant |
SNRNP200-related disorder [RCV004757371]|not provided [RCV001067218] |
Chr2:96279507 [GRCh38] Chr2:96945245 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1323C>G (p.Gly441=) |
single nucleotide variant |
not provided [RCV001067224] |
Chr2:96297417 [GRCh38] Chr2:96963155 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1547G>C (p.Cys516Ser) |
single nucleotide variant |
not provided [RCV001207332] |
Chr2:96296660 [GRCh38] Chr2:96962398 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3355G>A (p.Asp1119Asn) |
single nucleotide variant |
SNRNP200-related disorder [RCV004757389]|not provided [RCV001244460] |
Chr2:96287873 [GRCh38] Chr2:96953611 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.1154C>T (p.Ser385Phe) |
single nucleotide variant |
not provided [RCV001239644] |
Chr2:96297686 [GRCh38] Chr2:96963424 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.*287C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001141323] |
Chr2:96274725 [GRCh38] Chr2:96940463 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys) |
single nucleotide variant |
Retinal dystrophy [RCV004813797]|Retinitis pigmentosa [RCV001141556]|not provided [RCV001858926] |
Chr2:96293356 [GRCh38] Chr2:96959094 [GRCh37] Chr2:2q11.2 |
likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.5346G>A (p.Ser1782=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001138855]|not provided [RCV002559339] |
Chr2:96278689 [GRCh38] Chr2:96944427 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_014014.5(SNRNP200):c.1484C>T (p.Thr495Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002563121]|not provided [RCV001227753] |
Chr2:96296964 [GRCh38] Chr2:96962702 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.6093-6C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001143179]|SNRNP200-related disorder [RCV003906260]|not provided [RCV001428951] |
Chr2:96276991 [GRCh38] Chr2:96942729 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3261G>A (p.Ser1087=) |
single nucleotide variant |
not provided [RCV001237878] |
Chr2:96287967 [GRCh38] Chr2:96953705 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1718A>C (p.His573Pro) |
single nucleotide variant |
not provided [RCV001206980] |
Chr2:96295612 [GRCh38] Chr2:96961350 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3824G>A (p.Trp1275Ter) |
single nucleotide variant |
not provided [RCV001228098] |
Chr2:96286693 [GRCh38] Chr2:96952431 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NC_000002.12:g.(?_96274999)_(96809530_?)del |
deletion |
Retinal dystrophy [RCV004814148] |
Chr2:96274999..96809530 [GRCh38] Chr2:2q11.2 |
pathogenic |
NM_014014.5(SNRNP200):c.2837A>G (p.Asp946Gly) |
single nucleotide variant |
Retinal dystrophy [RCV004814271] |
Chr2:96289902 [GRCh38] Chr2:96955640 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2119A>G (p.Ile707Val) |
single nucleotide variant |
not provided [RCV004814750] |
Chr2:96293013 [GRCh38] Chr2:96958751 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5928C>T (p.Asp1976=) |
single nucleotide variant |
not provided [RCV000911715] |
Chr2:96277542 [GRCh38] Chr2:96943280 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5701C>T (p.Arg1901Cys) |
single nucleotide variant |
Retinal dystrophy [RCV004815847] |
Chr2:96277860 [GRCh38] Chr2:96943598 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96628608-96981369)x3 |
copy number gain |
not provided [RCV002472784] |
Chr2:96628608..96981369 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5869G>A (p.Asp1957Asn) |
single nucleotide variant |
Retinal dystrophy [RCV004818788] |
Chr2:96277601 [GRCh38] Chr2:96943339 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5104T>C (p.Cys1702Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV001141438]|not provided [RCV001858925] |
Chr2:96279480 [GRCh38] Chr2:96945218 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3888C>A (p.Pro1296=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001136708]|not provided [RCV001478181] |
Chr2:96286426 [GRCh38] Chr2:96952164 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4393-10C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001143284]|not provided [RCV001515194] |
Chr2:96284014 [GRCh38] Chr2:96949752 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1 |
copy number loss |
See cases [RCV001194515] |
Chr2:96737083..98261802 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.5336G>A (p.Arg1779His) |
single nucleotide variant |
Retinitis pigmentosa [RCV001138856] |
Chr2:96278699 [GRCh38] Chr2:96944437 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4966G>A (p.Val1656Met) |
single nucleotide variant |
Retinitis pigmentosa [RCV001141439]|not provided [RCV002559371] |
Chr2:96281872 [GRCh38] Chr2:96947610 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2122G>A (p.Val708Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV001141554]|not provided [RCV001227074] |
Chr2:96293010 [GRCh38] Chr2:96958748 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_014014.5(SNRNP200):c.1515+11C>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001141557] |
Chr2:96296922 [GRCh38] Chr2:96962660 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1556G>A (p.Arg519Gln) |
single nucleotide variant |
not provided [RCV001063745] |
Chr2:96296651 [GRCh38] Chr2:96962389 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2005C>T (p.Pro669Ser) |
single nucleotide variant |
Retinitis pigmentosa [RCV001141555]|not provided [RCV001342811] |
Chr2:96293347 [GRCh38] Chr2:96959085 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3 |
copy number gain |
See cases [RCV001194576] |
Chr2:96737083..98193473 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.-16C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001139056] |
Chr2:96305453 [GRCh38] Chr2:96971191 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6151G>T (p.Val2051Phe) |
single nucleotide variant |
not provided [RCV001068172] |
Chr2:96276927 [GRCh38] Chr2:96942665 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001074176]|Retinitis pigmentosa 33 [RCV004789377]|not provided [RCV001041315] |
Chr2:96295538 [GRCh38] Chr2:96961276 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.1325A>G (p.Tyr442Cys) |
single nucleotide variant |
not provided [RCV001068887] |
Chr2:96297415 [GRCh38] Chr2:96963153 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1507G>A (p.Ala503Thr) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001591871] |
Chr2:96296941 [GRCh38] Chr2:96962679 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1147C>T (p.Arg383Cys) |
single nucleotide variant |
not provided [RCV001069339] |
Chr2:96297693 [GRCh38] Chr2:96963431 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) |
single nucleotide variant |
Retinal dystrophy [RCV003890226]|Retinitis pigmentosa 33 [RCV003127619]|not provided [RCV001069774] |
Chr2:96291454 [GRCh38] Chr2:96957192 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.1936G>A (p.Val646Ile) |
single nucleotide variant |
not provided [RCV001204532] |
Chr2:96293416 [GRCh38] Chr2:96959154 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4456C>T (p.Arg1486Cys) |
single nucleotide variant |
not provided [RCV001234483] |
Chr2:96283941 [GRCh38] Chr2:96949679 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2539C>G (p.Leu847Val) |
single nucleotide variant |
not provided [RCV001208449] |
Chr2:96290698 [GRCh38] Chr2:96956436 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4708C>T (p.Arg1570Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001073992]|not provided [RCV001862815] |
Chr2:96283590 [GRCh38] Chr2:96949328 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2822A>G (p.Asp941Gly) |
single nucleotide variant |
Retinal dystrophy [RCV001074102]|not provided [RCV005093407] |
Chr2:96289917 [GRCh38] Chr2:96955655 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2638C>G (p.Leu880Val) |
single nucleotide variant |
Retinal dystrophy [RCV001074116] |
Chr2:96290430 [GRCh38] Chr2:96956168 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly) |
single nucleotide variant |
Retinal dystrophy [RCV001074855]|Retinitis pigmentosa 33 [RCV004771491]|not provided [RCV001301809] |
Chr2:96286829 [GRCh38] Chr2:96952567 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2006C>T (p.Pro669Leu) |
single nucleotide variant |
not provided [RCV001205112] |
Chr2:96293346 [GRCh38] Chr2:96959084 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.737C>T (p.Ala246Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004031185]|Retinal dystrophy [RCV001074889]|not provided [RCV002554733] |
Chr2:96298960 [GRCh38] Chr2:96964698 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001075213]|not provided [RCV001862845] |
Chr2:96293088 [GRCh38] Chr2:96958826 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.5491C>G (p.Leu1831Val) |
single nucleotide variant |
Retinal dystrophy [RCV001075357] |
Chr2:96278356 [GRCh38] Chr2:96944094 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.574+12C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001136811]|not provided [RCV002070594] |
Chr2:96301512 [GRCh38] Chr2:96967250 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001352976]|SNRNP200-related disorder [RCV004757364]|not provided [RCV001041316] |
Chr2:96296573 [GRCh38] Chr2:96962311 [GRCh37] Chr2:2q11.2 |
likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.6037C>T (p.Arg2013Cys) |
single nucleotide variant |
Retinitis pigmentosa [RCV001136610]|not provided [RCV002556901] |
Chr2:96277136 [GRCh38] Chr2:96942874 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1315C>T (p.Arg439Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002562992]|not provided [RCV001219235] |
Chr2:96297425 [GRCh38] Chr2:96963163 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2215C>T (p.Arg739Trp) |
single nucleotide variant |
not provided [RCV001236191] |
Chr2:96291846 [GRCh38] Chr2:96957584 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.685A>G (p.Met229Val) |
single nucleotide variant |
not provided [RCV001236231] |
Chr2:96299373 [GRCh38] Chr2:96965111 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.6096C>T (p.Gly2032=) |
single nucleotide variant |
not provided [RCV001233594] |
Chr2:96276982 [GRCh38] Chr2:96942720 [GRCh37] Chr2:2q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.4823C>T (p.Thr1608Met) |
single nucleotide variant |
not provided [RCV001045952] |
Chr2:96283293 [GRCh38] Chr2:96949031 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.687G>C (p.Met229Ile) |
single nucleotide variant |
not provided [RCV001228537] |
Chr2:96299371 [GRCh38] Chr2:96965109 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2177A>G (p.His726Arg) |
single nucleotide variant |
not provided [RCV001205569] |
Chr2:96291884 [GRCh38] Chr2:96957622 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4853G>A (p.Gly1618Asp) |
single nucleotide variant |
not provided [RCV001213654] |
Chr2:96283263 [GRCh38] Chr2:96949001 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4988T>C (p.Ile1663Thr) |
single nucleotide variant |
not provided [RCV001038703] |
Chr2:96281850 [GRCh38] Chr2:96947588 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1462C>T (p.Leu488Phe) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199782]|not provided [RCV002549232] |
Chr2:96296986 [GRCh38] Chr2:96962724 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.3640-15T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV001136709]|not provided [RCV001513663] |
Chr2:96286892 [GRCh38] Chr2:96952630 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_014014.5(SNRNP200):c.2517G>A (p.Gly839=) |
single nucleotide variant |
Retinal dystrophy [RCV001073768] |
Chr2:96290720 [GRCh38] Chr2:96956458 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3956G>A (p.Ser1319Asn) |
single nucleotide variant |
Retinal dystrophy [RCV001073885]|not provided [RCV001230262] |
Chr2:96286358 [GRCh38] Chr2:96952096 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004962993]|Retinitis pigmentosa 33 [RCV001001147]|not provided [RCV001860503] |
Chr2:96285308 [GRCh38] Chr2:96951046 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2716G>A (p.Val906Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003163770]|Retinitis pigmentosa [RCV001249892]|not provided [RCV001227409] |
Chr2:96290352 [GRCh38] Chr2:96956090 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.382-13T>C |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001002333] |
Chr2:96301729 [GRCh38] Chr2:96967467 [GRCh37] Chr2:2q11.2 |
likely benign |
NC_000002.12:g.(?_96267321)_(96305437_?)del |
deletion |
not provided [RCV001033650] |
Chr2:96933059..96971175 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1775A>C (p.Lys592Thr) |
single nucleotide variant |
Retinal dystrophy [RCV001074802] |
Chr2:96295555 [GRCh38] Chr2:96961293 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1783A>G (p.Ile595Val) |
single nucleotide variant |
Retinal dystrophy [RCV001075089]|not provided [RCV001209265] |
Chr2:96295547 [GRCh38] Chr2:96961285 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4796C>T (p.Pro1599Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001075482]|not provided [RCV001862617] |
Chr2:96283320 [GRCh38] Chr2:96949058 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val) |
single nucleotide variant |
Retinal dystrophy [RCV001075483]|not provided [RCV001203455] |
Chr2:96296582 [GRCh38] Chr2:96962320 [GRCh37] Chr2:2q11.2 |
likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.*100C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001143177] |
Chr2:96274912 [GRCh38] Chr2:96940650 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.*37A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001143178]|not provided [RCV004711536] |
Chr2:96274975 [GRCh38] Chr2:96940713 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6088C>T (p.Arg2030Cys) |
single nucleotide variant |
not provided [RCV001204138] |
Chr2:96277085 [GRCh38] Chr2:96942823 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4346A>G (p.Asn1449Ser) |
single nucleotide variant |
not provided [RCV001228576] |
Chr2:96284404 [GRCh38] Chr2:96950142 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001197050]|not provided [RCV005094054] |
Chr2:96300999 [GRCh38] Chr2:96966737 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3 |
copy number gain |
not provided [RCV001259641] |
Chr2:96515883..98162176 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1 |
copy number loss |
not provided [RCV001259642] |
Chr2:96421161..97765561 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3 |
copy number gain |
not provided [RCV001259643] |
Chr2:96544602..97706860 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2568C>T (p.Ala856=) |
single nucleotide variant |
not provided [RCV001311206] |
Chr2:96290500 [GRCh38] Chr2:96956238 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4146G>A (p.Met1382Ile) |
single nucleotide variant |
Retinal dystrophy [RCV004814375] |
Chr2:96285198 [GRCh38] Chr2:96950936 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1627C>G (p.Pro543Ala) |
single nucleotide variant |
not provided [RCV001313823] |
Chr2:96296580 [GRCh38] Chr2:96962318 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser) |
single nucleotide variant |
Autosomal dominant retinitis pigmentosa [RCV001257805]|not provided [RCV001323737] |
Chr2:96275115 [GRCh38] Chr2:96940853 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV001265972] |
Chr2:96293385 [GRCh38] Chr2:96959123 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001293378] |
Chr2:96737083..98193473 [GRCh37] Chr2:2q11.1-11.2 |
pathogenic |
GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592) |
copy number loss |
Fetal growth restriction [RCV001352673] |
Chr2:96755045..98021592 [GRCh37] Chr2:2q11.1-11.2 |
pathogenic |
NM_014014.5(SNRNP200):c.2940+5G>A |
single nucleotide variant |
not provided [RCV001316174] |
Chr2:96289794 [GRCh38] Chr2:96955532 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5660C>T (p.Pro1887Leu) |
single nucleotide variant |
not provided [RCV001299313] |
Chr2:96277901 [GRCh38] Chr2:96943639 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6295A>G (p.Thr2099Ala) |
single nucleotide variant |
not provided [RCV001338869] |
Chr2:96275128 [GRCh38] Chr2:96940866 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5822C>T (p.Ala1941Val) |
single nucleotide variant |
not provided [RCV001343083] |
Chr2:96277648 [GRCh38] Chr2:96943386 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6097G>C (p.Gly2033Arg) |
single nucleotide variant |
not provided [RCV001306654] |
Chr2:96276981 [GRCh38] Chr2:96942719 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1895_1896delinsGC (p.Val632Gly) |
indel |
not provided [RCV001297171] |
Chr2:96293456..96293457 [GRCh38] Chr2:96959194..96959195 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4372C>T (p.Leu1458Phe) |
single nucleotide variant |
not provided [RCV001321290] |
Chr2:96284378 [GRCh38] Chr2:96950116 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1716CCA[1] (p.His573del) |
microsatellite |
not provided [RCV001306932] |
Chr2:96295609..96295611 [GRCh38] Chr2:96961347..96961349 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1409A>T (p.Tyr470Phe) |
single nucleotide variant |
not provided [RCV001320623] |
Chr2:96297039 [GRCh38] Chr2:96962777 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.470T>C (p.Ile157Thr) |
single nucleotide variant |
not provided [RCV001320628] |
Chr2:96301628 [GRCh38] Chr2:96967366 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5413G>A (p.Glu1805Lys) |
single nucleotide variant |
not provided [RCV001318957] |
Chr2:96278622 [GRCh38] Chr2:96944360 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4183G>A (p.Glu1395Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004671322]|not provided [RCV001300657] |
Chr2:96284567 [GRCh38] Chr2:96950305 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1082A>C (p.Tyr361Ser) |
single nucleotide variant |
not provided [RCV001306381] |
Chr2:96298321 [GRCh38] Chr2:96964059 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2367G>T (p.Met789Ile) |
single nucleotide variant |
not provided [RCV001343918] |
Chr2:96291446 [GRCh38] Chr2:96957184 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2929G>A (p.Gly977Ser) |
single nucleotide variant |
not provided [RCV001305177] |
Chr2:96289810 [GRCh38] Chr2:96955548 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3462C>T (p.Tyr1154=) |
single nucleotide variant |
Retinal dystrophy [RCV003888124]|not provided [RCV001415155] |
Chr2:96287461 [GRCh38] Chr2:96953199 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1005C>T (p.Ala335=) |
single nucleotide variant |
not provided [RCV001433076] |
Chr2:96298398 [GRCh38] Chr2:96964136 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4560C>T (p.Pro1520=) |
single nucleotide variant |
not provided [RCV001433452] |
Chr2:96283837 [GRCh38] Chr2:96949575 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.574+11G>A |
single nucleotide variant |
not provided [RCV001412956] |
Chr2:96301513 [GRCh38] Chr2:96967251 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1890T>C (p.Ala630=) |
single nucleotide variant |
not provided [RCV001422623] |
Chr2:96293462 [GRCh38] Chr2:96959200 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3093+5G>A |
single nucleotide variant |
not provided [RCV001338579] |
Chr2:96289222 [GRCh38] Chr2:96954960 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1009G>A (p.Ala337Thr) |
single nucleotide variant |
not provided [RCV001369029] |
Chr2:96298394 [GRCh38] Chr2:96964132 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4913C>T (p.Ser1638Leu) |
single nucleotide variant |
not provided [RCV001316649] |
Chr2:96283203 [GRCh38] Chr2:96948941 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2748G>A (p.Ala916=) |
single nucleotide variant |
not provided [RCV001423035] |
Chr2:96289991 [GRCh38] Chr2:96955729 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1189G>T (p.Asp397Tyr) |
single nucleotide variant |
not provided [RCV001368950] |
Chr2:96297651 [GRCh38] Chr2:96963389 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3078C>T (p.Asn1026=) |
single nucleotide variant |
not provided [RCV001423096] |
Chr2:96289242 [GRCh38] Chr2:96954980 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001376489] |
Chr2:96290487 [GRCh38] Chr2:96956225 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1561A>G (p.Ile521Val) |
single nucleotide variant |
not provided [RCV001372897] |
Chr2:96296646 [GRCh38] Chr2:96962384 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2143C>A (p.His715Asn) |
single nucleotide variant |
not provided [RCV001361974] |
Chr2:96292989 [GRCh38] Chr2:96958727 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.45G>T (p.Ala15=) |
single nucleotide variant |
not provided [RCV001346528] |
Chr2:96305393 [GRCh38] Chr2:96971131 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3889C>G (p.Pro1297Ala) |
single nucleotide variant |
not provided [RCV001339782] |
Chr2:96286425 [GRCh38] Chr2:96952163 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4561G>A (p.Val1521Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004671358]|not provided [RCV001346612] |
Chr2:96283836 [GRCh38] Chr2:96949574 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.982+6T>C |
single nucleotide variant |
not provided [RCV001327403] |
Chr2:96298597 [GRCh38] Chr2:96964335 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4230C>T (p.Gly1410=) |
single nucleotide variant |
not provided [RCV001345929] |
Chr2:96284520 [GRCh38] Chr2:96950258 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.6389A>G (p.Glu2130Gly) |
single nucleotide variant |
not provided [RCV001360814] |
Chr2:96275034 [GRCh38] Chr2:96940772 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1693A>G (p.Thr565Ala) |
single nucleotide variant |
Retinal dystrophy [RCV003888045]|not provided [RCV001345025] |
Chr2:96295637 [GRCh38] Chr2:96961375 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_014014.5(SNRNP200):c.4764-3C>A |
single nucleotide variant |
not provided [RCV001361267] |
Chr2:96283355 [GRCh38] Chr2:96949093 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2002G>A (p.Asp668Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003346500]|not provided [RCV001345070] |
Chr2:96293350 [GRCh38] Chr2:96959088 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1577A>G (p.Asn526Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002550156]|not provided [RCV001372463] |
Chr2:96296630 [GRCh38] Chr2:96962368 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3475A>G (p.Asn1159Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002547705]|Retinal dystrophy [RCV004815451]|not provided [RCV001358940] |
Chr2:96287448 [GRCh38] Chr2:96953186 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4652C>T (p.Thr1551Ile) |
single nucleotide variant |
not provided [RCV001372900] |
Chr2:96283646 [GRCh38] Chr2:96949384 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2421+2T>C |
single nucleotide variant |
not provided [RCV001362005] |
Chr2:96291390 [GRCh38] Chr2:96957128 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2609T>C (p.Ile870Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004968145]|not provided [RCV001370427] |
Chr2:96290459 [GRCh38] Chr2:96956197 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5165T>G (p.Leu1722Trp) |
single nucleotide variant |
not provided [RCV001316157] |
Chr2:96278967 [GRCh38] Chr2:96944705 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2553+5A>G |
single nucleotide variant |
not provided [RCV001345421] |
Chr2:96290679 [GRCh38] Chr2:96956417 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4888C>T (p.Arg1630Cys) |
single nucleotide variant |
not provided [RCV001347976] |
Chr2:96283228 [GRCh38] Chr2:96948966 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6174+5G>A |
single nucleotide variant |
not provided [RCV001305180] |
Chr2:96276899 [GRCh38] Chr2:96942637 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4987A>G (p.Ile1663Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004967995]|not provided [RCV001308389] |
Chr2:96281851 [GRCh38] Chr2:96947589 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.744T>G (p.Gly248=) |
single nucleotide variant |
not provided [RCV001413338] |
Chr2:96298953 [GRCh38] Chr2:96964691 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3113A>C (p.Gln1038Pro) |
single nucleotide variant |
not provided [RCV001308927] |
Chr2:96289098 [GRCh38] Chr2:96954836 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3181G>A (p.Val1061Ile) |
single nucleotide variant |
not provided [RCV001325389] |
Chr2:96288740 [GRCh38] Chr2:96954478 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.23G>A (p.Ser8Asn) |
single nucleotide variant |
not provided [RCV001306942] |
Chr2:96305415 [GRCh38] Chr2:96971153 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6267+5G>A |
single nucleotide variant |
not provided [RCV001366402] |
Chr2:96275252 [GRCh38] Chr2:96940990 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.574+8C>T |
single nucleotide variant |
not provided [RCV001365332] |
Chr2:96301516 [GRCh38] Chr2:96967254 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4857C>T (p.Tyr1619=) |
single nucleotide variant |
not provided [RCV001395111] |
Chr2:96283259 [GRCh38] Chr2:96948997 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2104C>T (p.Gln702Ter) |
single nucleotide variant |
not provided [RCV001327679] |
Chr2:96293028 [GRCh38] Chr2:96958766 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3860G>A (p.Arg1287Gln) |
single nucleotide variant |
not provided [RCV001327682] |
Chr2:96286454 [GRCh38] Chr2:96952192 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.606T>C (p.Asn202=) |
single nucleotide variant |
not provided [RCV001493740] |
Chr2:96301022 [GRCh38] Chr2:96966760 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1662C>G (p.Ser554Arg) |
single nucleotide variant |
not provided [RCV001313600] |
Chr2:96296545 [GRCh38] Chr2:96962283 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5488+16G>T |
single nucleotide variant |
not provided [RCV001413836] |
Chr2:96278531 [GRCh38] Chr2:96944269 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2646C>T (p.Leu882=) |
single nucleotide variant |
not provided [RCV001421750] |
Chr2:96290422 [GRCh38] Chr2:96956160 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1447C>T (p.Arg483Trp) |
single nucleotide variant |
not provided [RCV001317595] |
Chr2:96297001 [GRCh38] Chr2:96962739 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4393-7T>C |
single nucleotide variant |
not provided [RCV001421789] |
Chr2:96284011 [GRCh38] Chr2:96949749 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4420A>G (p.Met1474Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003169751]|not provided [RCV001352240] |
Chr2:96283977 [GRCh38] Chr2:96949715 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5432C>T (p.Ala1811Val) |
single nucleotide variant |
Retinal dystrophy [RCV004815448]|not provided [RCV001358443] |
Chr2:96278603 [GRCh38] Chr2:96944341 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1203+9C>T |
single nucleotide variant |
SNRNP200-related disorder [RCV004757463]|not provided [RCV001515427]|not specified [RCV001701182] |
Chr2:96297628 [GRCh38] Chr2:96963366 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.982+10T>C |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV002495677]|SNRNP200-related disorder [RCV003930967]|not provided [RCV001464901] |
Chr2:96298593 [GRCh38] Chr2:96964331 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3175-5T>C |
single nucleotide variant |
not provided [RCV001473332] |
Chr2:96288751 [GRCh38] Chr2:96954489 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5755-20A>G |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV001810053]|not provided [RCV001515515]|not specified [RCV001528258] |
Chr2:96277735 [GRCh38] Chr2:96943473 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.6270G>A (p.Val2090=) |
single nucleotide variant |
not provided [RCV001487296] |
Chr2:96275153 [GRCh38] Chr2:96940891 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.15C>T (p.Thr5=) |
single nucleotide variant |
not provided [RCV001490759] |
Chr2:96305423 [GRCh38] Chr2:96971161 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2940+10G>A |
single nucleotide variant |
not provided [RCV001438787] |
Chr2:96289789 [GRCh38] Chr2:96955527 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2160+8C>A |
single nucleotide variant |
not provided [RCV001464759] |
Chr2:96292964 [GRCh38] Chr2:96958702 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5025-10C>T |
single nucleotide variant |
not provided [RCV001473596] |
Chr2:96279569 [GRCh38] Chr2:96945307 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2760G>C (p.Leu920=) |
single nucleotide variant |
not provided [RCV001475283] |
Chr2:96289979 [GRCh38] Chr2:96955717 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3606G>T (p.Leu1202=) |
single nucleotide variant |
not provided [RCV001499918] |
Chr2:96287039 [GRCh38] Chr2:96952777 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5160G>A (p.Glu1720=) |
single nucleotide variant |
not provided [RCV001470806] |
Chr2:96278972 [GRCh38] Chr2:96944710 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.982+8T>C |
single nucleotide variant |
not provided [RCV001492517] |
Chr2:96298595 [GRCh38] Chr2:96964333 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4725C>T (p.Asp1575=) |
single nucleotide variant |
not provided [RCV001458972] |
Chr2:96283573 [GRCh38] Chr2:96949311 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1843-4G>A |
single nucleotide variant |
not provided [RCV001399898] |
Chr2:96293513 [GRCh38] Chr2:96959251 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2319G>A (p.Glu773=) |
single nucleotide variant |
not provided [RCV001473961] |
Chr2:96291494 [GRCh38] Chr2:96957232 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2857C>A (p.Arg953=) |
single nucleotide variant |
not provided [RCV001511233] |
Chr2:96289882 [GRCh38] Chr2:96955620 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.3642G>A (p.Val1214=) |
single nucleotide variant |
not provided [RCV001479771] |
Chr2:96286875 [GRCh38] Chr2:96952613 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2743-7C>A |
single nucleotide variant |
not provided [RCV001485181] |
Chr2:96290003 [GRCh38] Chr2:96955741 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2743-4G>A |
single nucleotide variant |
not provided [RCV001455388] |
Chr2:96290000 [GRCh38] Chr2:96955738 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV002506633]|SNRNP200-related disorder [RCV003940963]|not provided [RCV001522056] |
Chr2:96284373 [GRCh38] Chr2:96950111 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.4797G>A (p.Pro1599=) |
single nucleotide variant |
not provided [RCV001455724] |
Chr2:96283319 [GRCh38] Chr2:96949057 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1671+19C>A |
single nucleotide variant |
not provided [RCV001480801] |
Chr2:96296517 [GRCh38] Chr2:96962255 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.209+8C>T |
single nucleotide variant |
not provided [RCV001504283] |
Chr2:96304697 [GRCh38] Chr2:96970435 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2340T>C (p.Tyr780=) |
single nucleotide variant |
Retinal dystrophy [RCV003888192]|not provided [RCV001472134] |
Chr2:96291473 [GRCh38] Chr2:96957211 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4585-9G>C |
single nucleotide variant |
not provided [RCV001456632] |
Chr2:96283722 [GRCh38] Chr2:96949460 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.336C>A (p.Thr112=) |
single nucleotide variant |
not provided [RCV001484223] |
Chr2:96303204 [GRCh38] Chr2:96968942 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3640-11C>G |
single nucleotide variant |
not provided [RCV001437554] |
Chr2:96286888 [GRCh38] Chr2:96952626 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1672-9C>T |
single nucleotide variant |
not provided [RCV001483600] |
Chr2:96295667 [GRCh38] Chr2:96961405 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3912G>A (p.Leu1304=) |
single nucleotide variant |
not provided [RCV001416024] |
Chr2:96286402 [GRCh38] Chr2:96952140 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.730-3T>C |
single nucleotide variant |
not provided [RCV001429304] |
Chr2:96298970 [GRCh38] Chr2:96964708 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2499G>A (p.Val833=) |
single nucleotide variant |
not provided [RCV001429377] |
Chr2:96290738 [GRCh38] Chr2:96956476 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3711G>A (p.Glu1237=) |
single nucleotide variant |
not provided [RCV001485963] |
Chr2:96286806 [GRCh38] Chr2:96952544 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1842+10G>A |
single nucleotide variant |
not provided [RCV001489916] |
Chr2:96295478 [GRCh38] Chr2:96961216 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1516-5C>T |
single nucleotide variant |
not provided [RCV001481661] |
Chr2:96296696 [GRCh38] Chr2:96962434 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3222C>A (p.Gly1074=) |
single nucleotide variant |
not provided [RCV001424148] |
Chr2:96288699 [GRCh38] Chr2:96954437 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4585-4C>T |
single nucleotide variant |
not provided [RCV001463972] |
Chr2:96283717 [GRCh38] Chr2:96949455 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1944C>T (p.Leu648=) |
single nucleotide variant |
not provided [RCV001464615] |
Chr2:96293408 [GRCh38] Chr2:96959146 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4479G>T (p.Ser1493=) |
single nucleotide variant |
not provided [RCV001488759] |
Chr2:96283918 [GRCh38] Chr2:96949656 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2520T>C (p.Arg840=) |
single nucleotide variant |
not provided [RCV001409342] |
Chr2:96290717 [GRCh38] Chr2:96956455 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4182C>T (p.Tyr1394=) |
single nucleotide variant |
not provided [RCV001407097] |
Chr2:96284568 [GRCh38] Chr2:96950306 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4585-6C>T |
single nucleotide variant |
not provided [RCV001412207] |
Chr2:96283719 [GRCh38] Chr2:96949457 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5778C>T (p.Cys1926=) |
single nucleotide variant |
not provided [RCV001402125] |
Chr2:96277692 [GRCh38] Chr2:96943430 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2421+9G>T |
single nucleotide variant |
not provided [RCV001434309] |
Chr2:96291383 [GRCh38] Chr2:96957121 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1675C>T (p.Leu559=) |
single nucleotide variant |
not provided [RCV001407133] |
Chr2:96295655 [GRCh38] Chr2:96961393 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4164+8G>T |
single nucleotide variant |
not provided [RCV001441422] |
Chr2:96285172 [GRCh38] Chr2:96950910 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6219C>T (p.Ser2073=) |
single nucleotide variant |
not provided [RCV001434389] |
Chr2:96275305 [GRCh38] Chr2:96941043 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2730C>T (p.Val910=) |
single nucleotide variant |
not provided [RCV001404920] |
Chr2:96290338 [GRCh38] Chr2:96956076 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3258+10G>A |
single nucleotide variant |
not provided [RCV001449469] |
Chr2:96288653 [GRCh38] Chr2:96954391 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5931+7C>T |
single nucleotide variant |
not provided [RCV001444608] |
Chr2:96277532 [GRCh38] Chr2:96943270 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5433G>A (p.Ala1811=) |
single nucleotide variant |
SNRNP200-related disorder [RCV004757443]|not provided [RCV001447038] |
Chr2:96278602 [GRCh38] Chr2:96944340 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1378-8T>C |
single nucleotide variant |
not provided [RCV001444652] |
Chr2:96297078 [GRCh38] Chr2:96962816 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3258+9G>A |
single nucleotide variant |
not provided [RCV001444687] |
Chr2:96288654 [GRCh38] Chr2:96954392 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6G>A (p.Ala2=) |
single nucleotide variant |
not provided [RCV001445037] |
Chr2:96305432 [GRCh38] Chr2:96971170 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5283C>T (p.Tyr1761=) |
single nucleotide variant |
not provided [RCV001400004] |
Chr2:96278849 [GRCh38] Chr2:96944587 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4376T>C (p.Ile1459Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004038401]|not provided [RCV001442226] |
Chr2:96284374 [GRCh38] Chr2:96950112 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1377+8A>G |
single nucleotide variant |
SNRNP200-related disorder [RCV003920944]|not provided [RCV001438888] |
Chr2:96297355 [GRCh38] Chr2:96963093 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3615G>A (p.Thr1205=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003900520]|not provided [RCV001442372] |
Chr2:96287030 [GRCh38] Chr2:96952768 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2388C>T (p.Leu796=) |
single nucleotide variant |
not provided [RCV001411063] |
Chr2:96291425 [GRCh38] Chr2:96957163 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4004-4C>T |
single nucleotide variant |
not provided [RCV001442888] |
Chr2:96285344 [GRCh38] Chr2:96951082 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3897C>T (p.Thr1299=) |
single nucleotide variant |
not provided [RCV001432341] |
Chr2:96286417 [GRCh38] Chr2:96952155 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2904T>C (p.Asn968=) |
single nucleotide variant |
not provided [RCV001411544] |
Chr2:96289835 [GRCh38] Chr2:96955573 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6408T>C (p.Asp2136=) |
single nucleotide variant |
not provided [RCV001409318] |
Chr2:96275015 [GRCh38] Chr2:96940753 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4165-6C>T |
single nucleotide variant |
SNRNP200-related disorder [RCV003966117]|not provided [RCV001518754] |
Chr2:96284591 [GRCh38] Chr2:96950329 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.6268-14C>T |
single nucleotide variant |
not provided [RCV001457661] |
Chr2:96275169 [GRCh38] Chr2:96940907 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.46-17T>C |
single nucleotide variant |
not provided [RCV001473137] |
Chr2:96304885 [GRCh38] Chr2:96970623 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3099G>A (p.Glu1033=) |
single nucleotide variant |
not provided [RCV001495517] |
Chr2:96289112 [GRCh38] Chr2:96954850 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1869C>T (p.Asp623=) |
single nucleotide variant |
not provided [RCV001490796] |
Chr2:96293483 [GRCh38] Chr2:96959221 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5601C>T (p.Leu1867=) |
single nucleotide variant |
not provided [RCV001495804] |
Chr2:96278246 [GRCh38] Chr2:96943984 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6267+7G>A |
single nucleotide variant |
not provided [RCV001482325] |
Chr2:96275250 [GRCh38] Chr2:96940988 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.574+10C>T |
single nucleotide variant |
SNRNP200-related disorder [RCV003956134]|not provided [RCV001510985] |
Chr2:96301514 [GRCh38] Chr2:96967252 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.4791G>A (p.Leu1597=) |
single nucleotide variant |
not provided [RCV001455342] |
Chr2:96283325 [GRCh38] Chr2:96949063 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1794C>A (p.Arg598=) |
single nucleotide variant |
not provided [RCV001511234] |
Chr2:96295536 [GRCh38] Chr2:96961274 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.3195C>T (p.Ala1065=) |
single nucleotide variant |
not provided [RCV001499881] |
Chr2:96288726 [GRCh38] Chr2:96954464 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4392+8G>A |
single nucleotide variant |
not provided [RCV001487372] |
Chr2:96284350 [GRCh38] Chr2:96950088 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4810C>T (p.Leu1604=) |
single nucleotide variant |
not provided [RCV001480297] |
Chr2:96283306 [GRCh38] Chr2:96949044 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4763+7G>A |
single nucleotide variant |
not provided [RCV001477600] |
Chr2:96283528 [GRCh38] Chr2:96949266 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5488+19C>T |
single nucleotide variant |
not provided [RCV001513138] |
Chr2:96278528 [GRCh38] Chr2:96944266 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.2310+19G>A |
single nucleotide variant |
not provided [RCV001513352] |
Chr2:96291732 [GRCh38] Chr2:96957470 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.4003+17C>G |
single nucleotide variant |
not provided [RCV001513354] |
Chr2:96286294 [GRCh38] Chr2:96952032 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.5217G>A (p.Glu1739=) |
single nucleotide variant |
not provided [RCV001461067] |
Chr2:96278915 [GRCh38] Chr2:96944653 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5488+10G>A |
single nucleotide variant |
SNRNP200-related disorder [RCV003965997]|not provided [RCV001489913] |
Chr2:96278537 [GRCh38] Chr2:96944275 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1671+18T>C |
single nucleotide variant |
not provided [RCV001512792] |
Chr2:96296518 [GRCh38] Chr2:96962256 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.5025-19T>C |
single nucleotide variant |
not provided [RCV001520349] |
Chr2:96279578 [GRCh38] Chr2:96945316 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.5091C>T (p.Asp1697=) |
single nucleotide variant |
not provided [RCV001442396] |
Chr2:96279493 [GRCh38] Chr2:96945231 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.51G>T (p.Ser17=) |
single nucleotide variant |
not provided [RCV001468587] |
Chr2:96304863 [GRCh38] Chr2:96970601 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4071T>G (p.Thr1357=) |
single nucleotide variant |
not provided [RCV001470589] |
Chr2:96285273 [GRCh38] Chr2:96951011 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5755-10T>G |
single nucleotide variant |
not provided [RCV001488181] |
Chr2:96277725 [GRCh38] Chr2:96943463 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3888C>G (p.Pro1296=) |
single nucleotide variant |
Retinal dystrophy [RCV003888176]|not provided [RCV001459806] |
Chr2:96286426 [GRCh38] Chr2:96952164 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.705C>T (p.Val235=) |
single nucleotide variant |
not provided [RCV001499017] |
Chr2:96299353 [GRCh38] Chr2:96965091 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.165G>A (p.Lys55=) |
single nucleotide variant |
not provided [RCV001465999] |
Chr2:96304749 [GRCh38] Chr2:96970487 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3585C>T (p.Arg1195=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003921044]|not provided [RCV001498678] |
Chr2:96287060 [GRCh38] Chr2:96952798 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5661G>A (p.Pro1887=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003946090]|not provided [RCV001415825] |
Chr2:96277900 [GRCh38] Chr2:96943638 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5323+9G>T |
single nucleotide variant |
not provided [RCV001461284] |
Chr2:96278800 [GRCh38] Chr2:96944538 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.45+8T>C |
single nucleotide variant |
SNRNP200-related disorder [RCV004757449]|not provided [RCV001463236] |
Chr2:96305385 [GRCh38] Chr2:96971123 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4205A>G (p.Asn1402Ser) |
single nucleotide variant |
not provided [RCV001517411] |
Chr2:96284545 [GRCh38] Chr2:96950283 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.4915+15G>A |
single nucleotide variant |
not provided [RCV001434406] |
Chr2:96283186 [GRCh38] Chr2:96948924 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4584+18C>T |
single nucleotide variant |
not provided [RCV001523762] |
Chr2:96283795 [GRCh38] Chr2:96949533 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.5745C>A (p.Ile1915=) |
single nucleotide variant |
not provided [RCV001429934] |
Chr2:96277816 [GRCh38] Chr2:96943554 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4818C>T (p.Asp1606=) |
single nucleotide variant |
Retinal dystrophy [RCV003888240]|not provided [RCV001511344] |
Chr2:96283298 [GRCh38] Chr2:96949036 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.5488+9C>T |
single nucleotide variant |
not provided [RCV001521731] |
Chr2:96278538 [GRCh38] Chr2:96944276 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.4164+7C>T |
single nucleotide variant |
not provided [RCV001483612] |
Chr2:96285173 [GRCh38] Chr2:96950911 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4332C>T (p.Asn1444=) |
single nucleotide variant |
not provided [RCV001415907] |
Chr2:96284418 [GRCh38] Chr2:96950156 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4566C>G (p.Pro1522=) |
single nucleotide variant |
not provided [RCV001436596] |
Chr2:96283831 [GRCh38] Chr2:96949569 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4461T>C (p.Ile1487=) |
single nucleotide variant |
not provided [RCV001443719] |
Chr2:96283936 [GRCh38] Chr2:96949674 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4916-9A>G |
single nucleotide variant |
not provided [RCV001476645] |
Chr2:96281931 [GRCh38] Chr2:96947669 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5982C>T (p.Asn1994=) |
single nucleotide variant |
not provided [RCV001505585] |
Chr2:96277191 [GRCh38] Chr2:96942929 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1713G>A (p.Gly571=) |
single nucleotide variant |
not provided [RCV001418645] |
Chr2:96295617 [GRCh38] Chr2:96961355 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.209+9del |
deletion |
not provided [RCV001438827] |
Chr2:96304696 [GRCh38] Chr2:96970434 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5949C>T (p.Phe1983=) |
single nucleotide variant |
not provided [RCV001459573] |
Chr2:96277224 [GRCh38] Chr2:96942962 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.983-7T>C |
single nucleotide variant |
SNRNP200-related disorder [RCV003948501]|not provided [RCV001512020] |
Chr2:96298427 [GRCh38] Chr2:96964165 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.2457G>A (p.Val819=) |
single nucleotide variant |
SNRNP200-related disorder [RCV003940898]|not provided [RCV001512021] |
Chr2:96290780 [GRCh38] Chr2:96956518 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.126C>A (p.Ser42=) |
single nucleotide variant |
not provided [RCV001477120] |
Chr2:96304788 [GRCh38] Chr2:96970526 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.693G>A (p.Gly231=) |
single nucleotide variant |
not provided [RCV001399037] |
Chr2:96299365 [GRCh38] Chr2:96965103 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3948C>T (p.Ala1316=) |
single nucleotide variant |
not provided [RCV001426718] |
Chr2:96286366 [GRCh38] Chr2:96952104 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.519G>A (p.Val173=) |
single nucleotide variant |
not provided [RCV001495454] |
Chr2:96301579 [GRCh38] Chr2:96967317 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2519G>A (p.Arg840His) |
single nucleotide variant |
not provided [RCV001756444] |
Chr2:96290718 [GRCh38] Chr2:96956456 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1436A>G (p.Lys479Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004040180]|not provided [RCV001754603] |
Chr2:96297012 [GRCh38] Chr2:96962750 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3134_3135del (p.Pro1045fs) |
deletion |
not provided [RCV001751884] |
Chr2:96289076..96289077 [GRCh38] Chr2:96954814..96954815 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4638_4639del (p.Tyr1547fs) |
microsatellite |
not provided [RCV001765385] |
Chr2:96283659..96283660 [GRCh38] Chr2:96949397..96949398 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5404A>G (p.Ile1802Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004040820]|not provided [RCV001786562] |
Chr2:96278631 [GRCh38] Chr2:96944369 [GRCh37] Chr2:2q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.6178C>T (p.Arg2060Cys) |
single nucleotide variant |
not provided [RCV001758705] |
Chr2:96275346 [GRCh38] Chr2:96941084 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5343G>T (p.Leu1781Phe) |
single nucleotide variant |
Retinal dystrophy [RCV004818569] |
Chr2:96278692 [GRCh38] Chr2:96944430 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5582G>A (p.Arg1861Gln) |
single nucleotide variant |
Retinal dystrophy [RCV004816058] |
Chr2:96278265 [GRCh38] Chr2:96944003 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1828C>G (p.Arg610Gly) |
single nucleotide variant |
Retinal dystrophy [RCV004818623] |
Chr2:96295502 [GRCh38] Chr2:96961240 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3398G>A (p.Arg1133Gln) |
single nucleotide variant |
not provided [RCV001929872] |
Chr2:96287525 [GRCh38] Chr2:96953263 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4270A>G (p.Ile1424Val) |
single nucleotide variant |
not provided [RCV001971389] |
Chr2:96284480 [GRCh38] Chr2:96950218 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.982+6T>A |
single nucleotide variant |
not provided [RCV002025724] |
Chr2:96298597 [GRCh38] Chr2:96964335 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4442T>C (p.Ile1481Thr) |
single nucleotide variant |
not provided [RCV001864436] |
Chr2:96283955 [GRCh38] Chr2:96949693 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2143C>T (p.His715Tyr) |
single nucleotide variant |
not provided [RCV001874353] |
Chr2:96292989 [GRCh38] Chr2:96958727 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2879C>G (p.Ala960Gly) |
single nucleotide variant |
not provided [RCV002008934] |
Chr2:96289860 [GRCh38] Chr2:96955598 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3838A>G (p.Thr1280Ala) |
single nucleotide variant |
not provided [RCV002023010] |
Chr2:96286476 [GRCh38] Chr2:96952214 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3241A>G (p.Met1081Val) |
single nucleotide variant |
not provided [RCV001894186] |
Chr2:96288680 [GRCh38] Chr2:96954418 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3179A>G (p.Asn1060Ser) |
single nucleotide variant |
Retinal dystrophy [RCV004816872]|not provided [RCV001988375] |
Chr2:96288742 [GRCh38] Chr2:96954480 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.821G>A (p.Arg274His) |
single nucleotide variant |
not provided [RCV001872476] |
Chr2:96298876 [GRCh38] Chr2:96964614 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.885G>A (p.Thr295=) |
single nucleotide variant |
SNRNP200-related disorder [RCV004757483]|not provided [RCV001863867] |
Chr2:96298700 [GRCh38] Chr2:96964438 [GRCh37] Chr2:2q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014014.5(SNRNP200):c.1633C>T (p.Arg545Cys) |
single nucleotide variant |
not provided [RCV002045766] |
Chr2:96296574 [GRCh38] Chr2:96962312 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.392T>C (p.Ile131Thr) |
single nucleotide variant |
not provided [RCV001971361] |
Chr2:96301706 [GRCh38] Chr2:96967444 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4392G>T (p.Gly1464=) |
single nucleotide variant |
not provided [RCV001912376] |
Chr2:96284358 [GRCh38] Chr2:96950096 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2099G>A (p.Arg700His) |
single nucleotide variant |
not provided [RCV002006557] |
Chr2:96293033 [GRCh38] Chr2:96958771 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1843-3T>C |
single nucleotide variant |
not provided [RCV002040157] |
Chr2:96293512 [GRCh38] Chr2:96959250 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6410G>C (p.Ter2137Ser) |
single nucleotide variant |
not provided [RCV001910208] |
Chr2:96275013 [GRCh38] Chr2:96940751 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3986A>G (p.Asn1329Ser) |
single nucleotide variant |
not provided [RCV001947949] |
Chr2:96286328 [GRCh38] Chr2:96952066 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5662C>T (p.His1888Tyr) |
single nucleotide variant |
not provided [RCV002004276] |
Chr2:96277899 [GRCh38] Chr2:96943637 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.209+15G>T |
single nucleotide variant |
not provided [RCV001911622] |
Chr2:96304690 [GRCh38] Chr2:96970428 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4714A>G (p.Thr1572Ala) |
single nucleotide variant |
not provided [RCV001966742] |
Chr2:96283584 [GRCh38] Chr2:96949322 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2062A>G (p.Thr688Ala) |
single nucleotide variant |
not provided [RCV001985094] |
Chr2:96293070 [GRCh38] Chr2:96958808 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3821G>A (p.Arg1274His) |
single nucleotide variant |
not provided [RCV001968092] |
Chr2:96286696 [GRCh38] Chr2:96952434 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2580G>C (p.Gln860His) |
single nucleotide variant |
not provided [RCV001893225] |
Chr2:96290488 [GRCh38] Chr2:96956226 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3 |
copy number gain |
not provided [RCV001832989] |
Chr2:96544603..98025634 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6174+19C>T |
single nucleotide variant |
not provided [RCV002003379] |
Chr2:96276885 [GRCh38] Chr2:96942623 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.174G>T (p.Arg58=) |
single nucleotide variant |
not provided [RCV001894954] |
Chr2:96304740 [GRCh38] Chr2:96970478 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2553G>A (p.Gln851=) |
single nucleotide variant |
not provided [RCV002042146] |
Chr2:96290684 [GRCh38] Chr2:96956422 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2232A>C (p.Glu744Asp) |
single nucleotide variant |
not provided [RCV002003652] |
Chr2:96291829 [GRCh38] Chr2:96957567 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1130C>T (p.Ser377Phe) |
single nucleotide variant |
not provided [RCV001895008] |
Chr2:96297710 [GRCh38] Chr2:96963448 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2777A>G (p.Tyr926Cys) |
single nucleotide variant |
not provided [RCV001926445] |
Chr2:96289962 [GRCh38] Chr2:96955700 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1708A>G (p.Thr570Ala) |
single nucleotide variant |
not provided [RCV001927207] |
Chr2:96295622 [GRCh38] Chr2:96961360 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2310+5G>C |
single nucleotide variant |
not provided [RCV001894111] |
Chr2:96291746 [GRCh38] Chr2:96957484 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1307G>A (p.Arg436His) |
single nucleotide variant |
not provided [RCV001911469] |
Chr2:96297433 [GRCh38] Chr2:96963171 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6097G>A (p.Gly2033Arg) |
single nucleotide variant |
Retinal dystrophy [RCV004815741]|not provided [RCV001891682] |
Chr2:96276981 [GRCh38] Chr2:96942719 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3890C>T (p.Pro1297Leu) |
single nucleotide variant |
not provided [RCV001872275] |
Chr2:96286424 [GRCh38] Chr2:96952162 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4909A>G (p.Ser1637Gly) |
single nucleotide variant |
not provided [RCV001908776] |
Chr2:96283207 [GRCh38] Chr2:96948945 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6093-5T>G |
single nucleotide variant |
Retinal dystrophy [RCV004815824] |
Chr2:96276990 [GRCh38] Chr2:96942728 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5611-5T>G |
single nucleotide variant |
not provided [RCV001969284] |
Chr2:96277955 [GRCh38] Chr2:96943693 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3074A>G (p.Lys1025Arg) |
single nucleotide variant |
not provided [RCV001984744] |
Chr2:96289246 [GRCh38] Chr2:96954984 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1367G>C (p.Gly456Ala) |
single nucleotide variant |
not provided [RCV002039733] |
Chr2:96297373 [GRCh38] Chr2:96963111 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1221G>T (p.Gln407His) |
single nucleotide variant |
not provided [RCV001893043] |
Chr2:96297519 [GRCh38] Chr2:96963257 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1180A>G (p.Met394Val) |
single nucleotide variant |
not provided [RCV001926409] |
Chr2:96297660 [GRCh38] Chr2:96963398 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.710G>A (p.Arg237His) |
single nucleotide variant |
not provided [RCV002023703] |
Chr2:96299348 [GRCh38] Chr2:96965086 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.5488+12C>T |
single nucleotide variant |
not provided [RCV002041950] |
Chr2:96278535 [GRCh38] Chr2:96944273 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6070G>A (p.Val2024Ile) |
single nucleotide variant |
not provided [RCV001927161] |
Chr2:96277103 [GRCh38] Chr2:96942841 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4780G>A (p.Glu1594Lys) |
single nucleotide variant |
not provided [RCV001872337] |
Chr2:96283336 [GRCh38] Chr2:96949074 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2350A>G (p.Ile784Val) |
single nucleotide variant |
not provided [RCV002021243] |
Chr2:96291463 [GRCh38] Chr2:96957201 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4354G>A (p.Val1452Met) |
single nucleotide variant |
Retinal dystrophy [RCV003888903]|not provided [RCV001910158] |
Chr2:96284396 [GRCh38] Chr2:96950134 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.782G>A (p.Arg261Gln) |
single nucleotide variant |
not provided [RCV002038461] |
Chr2:96298915 [GRCh38] Chr2:96964653 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2554-5T>G |
single nucleotide variant |
not provided [RCV002017477] |
Chr2:96290519 [GRCh38] Chr2:96956257 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2743-3T>C |
single nucleotide variant |
not provided [RCV002000350] |
Chr2:96289999 [GRCh38] Chr2:96955737 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4915+5G>A |
single nucleotide variant |
not provided [RCV002000805] |
Chr2:96283196 [GRCh38] Chr2:96948934 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3323C>T (p.Thr1108Ile) |
single nucleotide variant |
not provided [RCV002037184] |
Chr2:96287905 [GRCh38] Chr2:96953643 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1532A>C (p.Asn511Thr) |
single nucleotide variant |
not provided [RCV002000450] |
Chr2:96296675 [GRCh38] Chr2:96962413 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2950C>G (p.Leu984Val) |
single nucleotide variant |
not provided [RCV001944872] |
Chr2:96289370 [GRCh38] Chr2:96955108 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2310+6G>T |
single nucleotide variant |
not provided [RCV001944122] |
Chr2:96291745 [GRCh38] Chr2:96957483 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2311-17G>A |
single nucleotide variant |
not provided [RCV002033045] |
Chr2:96291519 [GRCh38] Chr2:96957257 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.151C>T (p.Arg51Cys) |
single nucleotide variant |
not provided [RCV001888193] |
Chr2:96304763 [GRCh38] Chr2:96970501 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.210-10T>C |
single nucleotide variant |
SNRNP200-related disorder [RCV003893091]|not provided [RCV002036892] |
Chr2:96303340 [GRCh38] Chr2:96969078 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3885C>A (p.Tyr1295Ter) |
single nucleotide variant |
not provided [RCV001905964] |
Chr2:96286429 [GRCh38] Chr2:96952167 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1645C>G (p.Gln549Glu) |
single nucleotide variant |
not provided [RCV001897245] |
Chr2:96296562 [GRCh38] Chr2:96962300 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.4133A>G (p.Tyr1378Cys) |
single nucleotide variant |
not provided [RCV001875419] |
Chr2:96285211 [GRCh38] Chr2:96950949 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2941-6C>G |
single nucleotide variant |
not provided [RCV001991801] |
Chr2:96289385 [GRCh38] Chr2:96955123 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.5404A>C (p.Ile1802Leu) |
single nucleotide variant |
not provided [RCV001883702] |
Chr2:96278631 [GRCh38] Chr2:96944369 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3484+3G>A |
single nucleotide variant |
not provided [RCV002038374] |
Chr2:96287436 [GRCh38] Chr2:96953174 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3832T>C (p.Cys1278Arg) |
single nucleotide variant |
not provided [RCV001900193] |
Chr2:96286482 [GRCh38] Chr2:96952220 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1834A>C (p.Ile612Leu) |
single nucleotide variant |
not provided [RCV002026641] |
Chr2:96295496 [GRCh38] Chr2:96961234 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3584G>C (p.Arg1195Pro) |
single nucleotide variant |
not provided [RCV001961747] |
Chr2:96287061 [GRCh38] Chr2:96952799 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3499A>G (p.Met1167Val) |
single nucleotide variant |
not provided [RCV001887975] |
Chr2:96287146 [GRCh38] Chr2:96952884 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4935_4937dup (p.Ala1646dup) |
duplication |
not provided [RCV001936922] |
Chr2:96281900..96281901 [GRCh38] Chr2:96947638..96947639 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1445A>G (p.Asn482Ser) |
single nucleotide variant |
not provided [RCV001904281] |
Chr2:96297003 [GRCh38] Chr2:96962741 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4522G>A (p.Ala1508Thr) |
single nucleotide variant |
not provided [RCV001897959] |
Chr2:96283875 [GRCh38] Chr2:96949613 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3250G>A (p.Val1084Ile) |
single nucleotide variant |
not provided [RCV001953070] |
Chr2:96288671 [GRCh38] Chr2:96954409 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4039T>C (p.Phe1347Leu) |
single nucleotide variant |
not provided [RCV001976681] |
Chr2:96285305 [GRCh38] Chr2:96951043 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5762G>A (p.Arg1921Gln) |
single nucleotide variant |
not provided [RCV002016349] |
Chr2:96277708 [GRCh38] Chr2:96943446 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.820C>T (p.Arg274Cys) |
single nucleotide variant |
not provided [RCV002028502] |
Chr2:96298877 [GRCh38] Chr2:96964615 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5092G>A (p.Asp1698Asn) |
single nucleotide variant |
not provided [RCV001988949] |
Chr2:96279492 [GRCh38] Chr2:96945230 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1948G>C (p.Gly650Arg) |
single nucleotide variant |
not provided [RCV002030033] |
Chr2:96293404 [GRCh38] Chr2:96959142 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2743-18A>G |
single nucleotide variant |
not provided [RCV001897198] |
Chr2:96290014 [GRCh38] Chr2:96955752 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2839C>A (p.Pro947Thr) |
single nucleotide variant |
not provided [RCV002031780] |
Chr2:96289900 [GRCh38] Chr2:96955638 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2036+1del |
deletion |
not provided [RCV001899819] |
Chr2:96293315 [GRCh38] Chr2:96959053 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2957G>A (p.Arg986His) |
single nucleotide variant |
not provided [RCV001901418] |
Chr2:96289363 [GRCh38] Chr2:96955101 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.4462G>A (p.Val1488Met) |
single nucleotide variant |
not provided [RCV002016601] |
Chr2:96283935 [GRCh38] Chr2:96949673 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5102G>A (p.Arg1701His) |
single nucleotide variant |
not provided [RCV002030207] |
Chr2:96279482 [GRCh38] Chr2:96945220 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.381+3G>T |
single nucleotide variant |
not provided [RCV002049187] |
Chr2:96303156 [GRCh38] Chr2:96968894 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4814G>A (p.Ser1605Asn) |
single nucleotide variant |
not provided [RCV002017568] |
Chr2:96283302 [GRCh38] Chr2:96949040 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2420A>G (p.Gln807Arg) |
single nucleotide variant |
not provided [RCV001897761] |
Chr2:96291393 [GRCh38] Chr2:96957131 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4594A>T (p.Ile1532Phe) |
single nucleotide variant |
not provided [RCV001867139] |
Chr2:96283704 [GRCh38] Chr2:96949442 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3439A>C (p.Asn1147His) |
single nucleotide variant |
not provided [RCV001924457] |
Chr2:96287484 [GRCh38] Chr2:96953222 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2840C>T (p.Pro947Leu) |
single nucleotide variant |
not provided [RCV001878729] |
Chr2:96289899 [GRCh38] Chr2:96955637 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.283G>C (p.Asp95His) |
single nucleotide variant |
not provided [RCV001933689] |
Chr2:96303257 [GRCh38] Chr2:96968995 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4981G>T (p.Val1661Leu) |
single nucleotide variant |
not provided [RCV001883226] |
Chr2:96281857 [GRCh38] Chr2:96947595 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3993C>G (p.Ile1331Met) |
single nucleotide variant |
not provided [RCV001996443] |
Chr2:96286321 [GRCh38] Chr2:96952059 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.637G>A (p.Asp213Asn) |
single nucleotide variant |
not provided [RCV002050923] |
Chr2:96299421 [GRCh38] Chr2:96965159 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NC_000002.11:g.(?_96780545)_(97475254_?)dup |
duplication |
not provided [RCV001981292] |
Chr2:96780545..97475254 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2066A>T (p.Tyr689Phe) |
single nucleotide variant |
not provided [RCV001977056] |
Chr2:96293066 [GRCh38] Chr2:96958804 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3280G>C (p.Ala1094Pro) |
single nucleotide variant |
not provided [RCV001931924] |
Chr2:96287948 [GRCh38] Chr2:96953686 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3694G>T (p.Val1232Leu) |
single nucleotide variant |
not provided [RCV002029033] |
Chr2:96286823 [GRCh38] Chr2:96952561 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.418C>G (p.Leu140Val) |
single nucleotide variant |
not provided [RCV001877162] |
Chr2:96301680 [GRCh38] Chr2:96967418 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1257G>T (p.Gly419=) |
single nucleotide variant |
not provided [RCV001934660] |
Chr2:96297483 [GRCh38] Chr2:96963221 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.3193G>A (p.Ala1065Thr) |
single nucleotide variant |
not provided [RCV001904435] |
Chr2:96288728 [GRCh38] Chr2:96954466 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4996A>T (p.Thr1666Ser) |
single nucleotide variant |
Retinal dystrophy [RCV004816850]|not provided [RCV001959553] |
Chr2:96281842 [GRCh38] Chr2:96947580 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5213C>G (p.Ala1738Gly) |
single nucleotide variant |
not provided [RCV001907362] |
Chr2:96278919 [GRCh38] Chr2:96944657 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3820C>T (p.Arg1274Cys) |
single nucleotide variant |
not provided [RCV001935885] |
Chr2:96286697 [GRCh38] Chr2:96952435 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4835C>G (p.Thr1612Arg) |
single nucleotide variant |
not provided [RCV001981636] |
Chr2:96283281 [GRCh38] Chr2:96949019 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6093-7C>G |
single nucleotide variant |
not provided [RCV001897693] |
Chr2:96276992 [GRCh38] Chr2:96942730 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2310G>A (p.Lys770=) |
single nucleotide variant |
not provided [RCV001954142] |
Chr2:96291751 [GRCh38] Chr2:96957489 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5023G>A (p.Ala1675Thr) |
single nucleotide variant |
not provided [RCV002015139] |
Chr2:96281815 [GRCh38] Chr2:96947553 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5702G>A (p.Arg1901His) |
single nucleotide variant |
not provided [RCV002028683] |
Chr2:96277859 [GRCh38] Chr2:96943597 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1534G>A (p.Val512Met) |
single nucleotide variant |
not provided [RCV002017466] |
Chr2:96296673 [GRCh38] Chr2:96962411 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.860A>T (p.Asp287Val) |
single nucleotide variant |
not provided [RCV001917474] |
Chr2:96298837 [GRCh38] Chr2:96964575 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5321A>G (p.Gln1774Arg) |
single nucleotide variant |
not provided [RCV001923918] |
Chr2:96278811 [GRCh38] Chr2:96944549 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1886A>G (p.Glu629Gly) |
single nucleotide variant |
not provided [RCV001906299] |
Chr2:96293466 [GRCh38] Chr2:96959204 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1378-3T>C |
single nucleotide variant |
not provided [RCV001905971] |
Chr2:96297073 [GRCh38] Chr2:96962811 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1573A>G (p.Ile525Val) |
single nucleotide variant |
not provided [RCV002026028] |
Chr2:96296634 [GRCh38] Chr2:96962372 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4055C>T (p.Thr1352Met) |
single nucleotide variant |
not provided [RCV001932126] |
Chr2:96285289 [GRCh38] Chr2:96951027 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1939C>G (p.Arg647Gly) |
single nucleotide variant |
not provided [RCV001917621] |
Chr2:96293413 [GRCh38] Chr2:96959151 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4178G>C (p.Trp1393Ser) |
single nucleotide variant |
not provided [RCV002045851] |
Chr2:96284572 [GRCh38] Chr2:96950310 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1516-3T>C |
single nucleotide variant |
not provided [RCV001933901] |
Chr2:96296694 [GRCh38] Chr2:96962432 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5552A>G (p.Asn1851Ser) |
single nucleotide variant |
not provided [RCV002033117] |
Chr2:96278295 [GRCh38] Chr2:96944033 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2755T>G (p.Trp919Gly) |
single nucleotide variant |
not provided [RCV002029864] |
Chr2:96289984 [GRCh38] Chr2:96955722 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5101C>T (p.Arg1701Cys) |
single nucleotide variant |
not provided [RCV001933239] |
Chr2:96279483 [GRCh38] Chr2:96945221 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe) |
single nucleotide variant |
Retinal dystrophy [RCV004816924]|Retinitis pigmentosa 33 [RCV002492365]|not provided [RCV002016907] |
Chr2:96293401 [GRCh38] Chr2:96959139 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2749G>T (p.Val917Leu) |
single nucleotide variant |
not provided [RCV002026334] |
Chr2:96289990 [GRCh38] Chr2:96955728 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln) |
single nucleotide variant |
Retinal dystrophy [RCV003888350]|Retinitis pigmentosa 33 [RCV003228805]|not provided [RCV001865088] |
Chr2:96287959 [GRCh38] Chr2:96953697 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance |
NM_014014.5(SNRNP200):c.1195G>A (p.Gly399Ser) |
single nucleotide variant |
not provided [RCV001919812] |
Chr2:96297645 [GRCh38] Chr2:96963383 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2662C>T (p.Pro888Ser) |
single nucleotide variant |
not provided [RCV002029477] |
Chr2:96290406 [GRCh38] Chr2:96956144 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4889G>A (p.Arg1630His) |
single nucleotide variant |
not provided [RCV001881892] |
Chr2:96283227 [GRCh38] Chr2:96948965 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4123C>T (p.Arg1375Cys) |
single nucleotide variant |
not provided [RCV001995287] |
Chr2:96285221 [GRCh38] Chr2:96950959 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1428G>A (p.Glu476=) |
single nucleotide variant |
not provided [RCV001978248] |
Chr2:96297020 [GRCh38] Chr2:96962758 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.2698A>C (p.Met900Leu) |
single nucleotide variant |
not provided [RCV001902311] |
Chr2:96290370 [GRCh38] Chr2:96956108 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1902G>A (p.Arg634=) |
single nucleotide variant |
not provided [RCV002189157] |
Chr2:96293450 [GRCh38] Chr2:96959188 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5100G>A (p.Gly1700=) |
single nucleotide variant |
not provided [RCV002192356] |
Chr2:96279484 [GRCh38] Chr2:96945222 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1179C>T (p.Thr393=) |
single nucleotide variant |
not provided [RCV002207424] |
Chr2:96297661 [GRCh38] Chr2:96963399 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.597C>T (p.Tyr199=) |
single nucleotide variant |
Retinal dystrophy [RCV003889097]|not provided [RCV002188843] |
Chr2:96301031 [GRCh38] Chr2:96966769 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.2311-9G>T |
single nucleotide variant |
not provided [RCV002148721] |
Chr2:96291511 [GRCh38] Chr2:96957249 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4479G>A (p.Ser1493=) |
single nucleotide variant |
not provided [RCV002185183] |
Chr2:96283918 [GRCh38] Chr2:96949656 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5457C>T (p.Ala1819=) |
single nucleotide variant |
Retinal dystrophy [RCV003889049]|not provided [RCV002105734] |
Chr2:96278578 [GRCh38] Chr2:96944316 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.209+12G>A |
single nucleotide variant |
not provided [RCV002187823] |
Chr2:96304693 [GRCh38] Chr2:96970431 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5070C>T (p.His1690=) |
single nucleotide variant |
not provided [RCV002145942] |
Chr2:96279514 [GRCh38] Chr2:96945252 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2160+8C>T |
single nucleotide variant |
not provided [RCV002191394] |
Chr2:96292964 [GRCh38] Chr2:96958702 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4293G>A (p.Lys1431=) |
single nucleotide variant |
not provided [RCV002190768] |
Chr2:96284457 [GRCh38] Chr2:96950195 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5324-10G>A |
single nucleotide variant |
not provided [RCV002087651] |
Chr2:96278721 [GRCh38] Chr2:96944459 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1843-10A>G |
single nucleotide variant |
not provided [RCV002085931] |
Chr2:96293519 [GRCh38] Chr2:96959257 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.144G>A (p.Glu48=) |
single nucleotide variant |
not provided [RCV002125799] |
Chr2:96304770 [GRCh38] Chr2:96970508 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3670C>T (p.Leu1224=) |
single nucleotide variant |
not provided [RCV002188305] |
Chr2:96286847 [GRCh38] Chr2:96952585 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3485-13C>T |
single nucleotide variant |
not provided [RCV002187075] |
Chr2:96287173 [GRCh38] Chr2:96952911 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3123G>A (p.Leu1041=) |
single nucleotide variant |
not provided [RCV002091332] |
Chr2:96289088 [GRCh38] Chr2:96954826 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1347T>C (p.Ala449=) |
single nucleotide variant |
not provided [RCV002192851] |
Chr2:96297393 [GRCh38] Chr2:96963131 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2742+8dup |
duplication |
SNRNP200-related disorder [RCV004757516]|not provided [RCV002124996] |
Chr2:96290317..96290318 [GRCh38] Chr2:96956055..96956056 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.4116G>A (p.Ser1372=) |
single nucleotide variant |
not provided [RCV002075571] |
Chr2:96285228 [GRCh38] Chr2:96950966 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5024+8C>T |
single nucleotide variant |
not provided [RCV002126218] |
Chr2:96281806 [GRCh38] Chr2:96947544 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2421+17C>T |
single nucleotide variant |
not provided [RCV002130144] |
Chr2:96291375 [GRCh38] Chr2:96957113 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1863C>T (p.His621=) |
single nucleotide variant |
not provided [RCV002089846] |
Chr2:96293489 [GRCh38] Chr2:96959227 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3366-12C>T |
single nucleotide variant |
not provided [RCV002076343] |
Chr2:96287569 [GRCh38] Chr2:96953307 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5610+15C>A |
single nucleotide variant |
not provided [RCV002076364] |
Chr2:96278222 [GRCh38] Chr2:96943960 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.855G>A (p.Lys285=) |
single nucleotide variant |
not provided [RCV002169993] |
Chr2:96298842 [GRCh38] Chr2:96964580 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4260C>A (p.Gly1420=) |
single nucleotide variant |
not provided [RCV002146814] |
Chr2:96284490 [GRCh38] Chr2:96950228 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6333C>T (p.Asp2111=) |
single nucleotide variant |
not provided [RCV002166737] |
Chr2:96275090 [GRCh38] Chr2:96940828 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2613A>G (p.Thr871=) |
single nucleotide variant |
not provided [RCV002166819] |
Chr2:96290455 [GRCh38] Chr2:96956193 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4915+14C>T |
single nucleotide variant |
not provided [RCV002208978] |
Chr2:96283187 [GRCh38] Chr2:96948925 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5505C>T (p.Ser1835=) |
single nucleotide variant |
not provided [RCV002088949] |
Chr2:96278342 [GRCh38] Chr2:96944080 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5489-10T>C |
single nucleotide variant |
Retinal dystrophy [RCV004816954]|not provided [RCV002207610] |
Chr2:96278368 [GRCh38] Chr2:96944106 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.382-13T>G |
single nucleotide variant |
not provided [RCV002186629] |
Chr2:96301729 [GRCh38] Chr2:96967467 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3603G>A (p.Glu1201=) |
single nucleotide variant |
not provided [RCV002188573] |
Chr2:96287042 [GRCh38] Chr2:96952780 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2199G>A (p.Lys733=) |
single nucleotide variant |
not provided [RCV002071195] |
Chr2:96291862 [GRCh38] Chr2:96957600 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2358C>T (p.His786=) |
single nucleotide variant |
not provided [RCV002084904] |
Chr2:96291455 [GRCh38] Chr2:96957193 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5755-16T>C |
single nucleotide variant |
not provided [RCV002189992] |
Chr2:96277731 [GRCh38] Chr2:96943469 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2409T>C (p.Asp803=) |
single nucleotide variant |
not provided [RCV002125296] |
Chr2:96291404 [GRCh38] Chr2:96957142 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1662C>T (p.Ser554=) |
single nucleotide variant |
not provided [RCV002129594] |
Chr2:96296545 [GRCh38] Chr2:96962283 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.5754+18G>A |
single nucleotide variant |
not provided [RCV002186164] |
Chr2:96277789 [GRCh38] Chr2:96943527 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4047G>T (p.Gly1349=) |
single nucleotide variant |
not provided [RCV002186252] |
Chr2:96285297 [GRCh38] Chr2:96951035 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3609C>A (p.Thr1203=) |
single nucleotide variant |
not provided [RCV002087678] |
Chr2:96287036 [GRCh38] Chr2:96952774 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1516-16C>T |
single nucleotide variant |
not provided [RCV002185906] |
Chr2:96296707 [GRCh38] Chr2:96962445 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1587C>A (p.Gly529=) |
single nucleotide variant |
not provided [RCV002133679] |
Chr2:96296620 [GRCh38] Chr2:96962358 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5565T>C (p.Tyr1855=) |
single nucleotide variant |
not provided [RCV002084768] |
Chr2:96278282 [GRCh38] Chr2:96944020 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2161-4T>C |
single nucleotide variant |
not provided [RCV002149005] |
Chr2:96291904 [GRCh38] Chr2:96957642 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.45+12C>G |
single nucleotide variant |
not provided [RCV002130938] |
Chr2:96305381 [GRCh38] Chr2:96971119 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4353C>T (p.Phe1451=) |
single nucleotide variant |
not provided [RCV002197444] |
Chr2:96284397 [GRCh38] Chr2:96950135 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1602T>C (p.Asp534=) |
single nucleotide variant |
not provided [RCV002147841] |
Chr2:96296605 [GRCh38] Chr2:96962343 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6108G>T (p.Val2036=) |
single nucleotide variant |
not provided [RCV002130790] |
Chr2:96276970 [GRCh38] Chr2:96942708 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3174+11C>T |
single nucleotide variant |
not provided [RCV002115011] |
Chr2:96289026 [GRCh38] Chr2:96954764 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.357C>T (p.Phe119=) |
single nucleotide variant |
not provided [RCV002116777] |
Chr2:96303183 [GRCh38] Chr2:96968921 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2553+14T>G |
single nucleotide variant |
not provided [RCV002151926] |
Chr2:96290670 [GRCh38] Chr2:96956408 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.382-6C>T |
single nucleotide variant |
not provided [RCV002081000] |
Chr2:96301722 [GRCh38] Chr2:96967460 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4585-13C>T |
single nucleotide variant |
not provided [RCV002197512] |
Chr2:96283726 [GRCh38] Chr2:96949464 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4916-16C>T |
single nucleotide variant |
not provided [RCV002090042] |
Chr2:96281938 [GRCh38] Chr2:96947676 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2310+11G>A |
single nucleotide variant |
not provided [RCV002173990] |
Chr2:96291740 [GRCh38] Chr2:96957478 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3093+16A>G |
single nucleotide variant |
not provided [RCV002097052] |
Chr2:96289211 [GRCh38] Chr2:96954949 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.382-18G>C |
single nucleotide variant |
not provided [RCV002197302] |
Chr2:96301734 [GRCh38] Chr2:96967472 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4983A>G (p.Val1661=) |
single nucleotide variant |
not provided [RCV002077896] |
Chr2:96281855 [GRCh38] Chr2:96947593 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.575-19_575-11del |
deletion |
not provided [RCV002151799] |
Chr2:96301064..96301072 [GRCh38] Chr2:96966802..96966810 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3600G>A (p.Val1200=) |
single nucleotide variant |
not provided [RCV002185734] |
Chr2:96287045 [GRCh38] Chr2:96952783 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6159G>A (p.Ala2053=) |
single nucleotide variant |
not provided [RCV002108688] |
Chr2:96276919 [GRCh38] Chr2:96942657 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6171G>A (p.Pro2057=) |
single nucleotide variant |
not provided [RCV002079247] |
Chr2:96276907 [GRCh38] Chr2:96942645 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2314C>T (p.Leu772=) |
single nucleotide variant |
not provided [RCV002213023] |
Chr2:96291499 [GRCh38] Chr2:96957237 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.879G>A (p.Leu293=) |
single nucleotide variant |
not provided [RCV002213045] |
Chr2:96298818 [GRCh38] Chr2:96964556 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.631-17del |
deletion |
not provided [RCV002130969] |
Chr2:96299444 [GRCh38] Chr2:96965182 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1686T>C (p.Tyr562=) |
single nucleotide variant |
SNRNP200-related disorder [RCV004757527]|not provided [RCV002151186] |
Chr2:96295644 [GRCh38] Chr2:96961382 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.135G>A (p.Gly45=) |
single nucleotide variant |
not provided [RCV002094872] |
Chr2:96304779 [GRCh38] Chr2:96970517 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1260C>T (p.Ser420=) |
single nucleotide variant |
not provided [RCV002079115] |
Chr2:96297480 [GRCh38] Chr2:96963218 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3771T>G (p.Pro1257=) |
single nucleotide variant |
not provided [RCV002190964] |
Chr2:96286746 [GRCh38] Chr2:96952484 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5658T>C (p.Asp1886=) |
single nucleotide variant |
not provided [RCV002214597] |
Chr2:96277903 [GRCh38] Chr2:96943641 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1516-13A>G |
single nucleotide variant |
not provided [RCV002078811] |
Chr2:96296704 [GRCh38] Chr2:96962442 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1932G>A (p.Glu644=) |
single nucleotide variant |
not provided [RCV002149071] |
Chr2:96293420 [GRCh38] Chr2:96959158 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2421+18G>A |
single nucleotide variant |
not provided [RCV002146176] |
Chr2:96291374 [GRCh38] Chr2:96957112 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1263C>T (p.His421=) |
single nucleotide variant |
not provided [RCV002170402] |
Chr2:96297477 [GRCh38] Chr2:96963215 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2502C>T (p.Tyr834=) |
single nucleotide variant |
not provided [RCV002151041] |
Chr2:96290735 [GRCh38] Chr2:96956473 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2941-8C>T |
single nucleotide variant |
not provided [RCV002077471] |
Chr2:96289387 [GRCh38] Chr2:96955125 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1188C>T (p.Leu396=) |
single nucleotide variant |
not provided [RCV002149289] |
Chr2:96297652 [GRCh38] Chr2:96963390 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1125A>G (p.Glu375=) |
single nucleotide variant |
not provided [RCV002152404] |
Chr2:96297715 [GRCh38] Chr2:96963453 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3829+11C>T |
single nucleotide variant |
not provided [RCV002150596] |
Chr2:96286677 [GRCh38] Chr2:96952415 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3708T>C (p.His1236=) |
single nucleotide variant |
not provided [RCV002213372] |
Chr2:96286809 [GRCh38] Chr2:96952547 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.354C>T (p.Ser118=) |
single nucleotide variant |
not provided [RCV002196795] |
Chr2:96303186 [GRCh38] Chr2:96968924 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4062C>T (p.Ser1354=) |
single nucleotide variant |
SNRNP200-related disorder [RCV004757522]|not provided [RCV002094195] |
Chr2:96285282 [GRCh38] Chr2:96951020 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.983-13T>G |
single nucleotide variant |
not provided [RCV002094250] |
Chr2:96298433 [GRCh38] Chr2:96964171 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6093-20C>T |
single nucleotide variant |
not provided [RCV002151939] |
Chr2:96277005 [GRCh38] Chr2:96942743 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5190C>T (p.His1730=) |
single nucleotide variant |
not provided [RCV002193446] |
Chr2:96278942 [GRCh38] Chr2:96944680 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3639+18_3639+58del |
deletion |
not provided [RCV002093893] |
Chr2:96286948..96286988 [GRCh38] Chr2:96952686..96952726 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3366-11T>G |
single nucleotide variant |
not provided [RCV002077459] |
Chr2:96287568 [GRCh38] Chr2:96953306 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5025-22_5025-20del |
microsatellite |
not provided [RCV002078680] |
Chr2:96279579..96279581 [GRCh38] Chr2:96945317..96945319 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4593C>T (p.Asn1531=) |
single nucleotide variant |
not provided [RCV002099828] |
Chr2:96283705 [GRCh38] Chr2:96949443 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5412C>T (p.Ile1804=) |
single nucleotide variant |
Retinal dystrophy [RCV003889098]|not provided [RCV002201394] |
Chr2:96278623 [GRCh38] Chr2:96944361 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_014014.5(SNRNP200):c.883-18G>A |
single nucleotide variant |
not provided [RCV002175585] |
Chr2:96298720 [GRCh38] Chr2:96964458 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3485-17C>T |
single nucleotide variant |
not provided [RCV002156166] |
Chr2:96287177 [GRCh38] Chr2:96952915 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4893G>C (p.Leu1631=) |
single nucleotide variant |
not provided [RCV002160069] |
Chr2:96283223 [GRCh38] Chr2:96948961 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.209+15G>A |
single nucleotide variant |
not provided [RCV002137811] |
Chr2:96304690 [GRCh38] Chr2:96970428 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3183T>C (p.Val1061=) |
single nucleotide variant |
not provided [RCV002102464] |
Chr2:96288738 [GRCh38] Chr2:96954476 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.924G>A (p.Leu308=) |
single nucleotide variant |
not provided [RCV002176010] |
Chr2:96298661 [GRCh38] Chr2:96964399 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4554G>A (p.Val1518=) |
single nucleotide variant |
not provided [RCV002139951] |
Chr2:96283843 [GRCh38] Chr2:96949581 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.378C>T (p.Asp126=) |
single nucleotide variant |
not provided [RCV002182073] |
Chr2:96303162 [GRCh38] Chr2:96968900 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2040C>T (p.Phe680=) |
single nucleotide variant |
not provided [RCV002101344] |
Chr2:96293092 [GRCh38] Chr2:96958830 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.312C>T (p.Pro104=) |
single nucleotide variant |
not provided [RCV002178691] |
Chr2:96303228 [GRCh38] Chr2:96968966 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4386G>A (p.Glu1462=) |
single nucleotide variant |
not provided [RCV002164700] |
Chr2:96284364 [GRCh38] Chr2:96950102 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.441G>A (p.Lys147=) |
single nucleotide variant |
not provided [RCV002099548] |
Chr2:96301657 [GRCh38] Chr2:96967395 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4647T>C (p.Ala1549=) |
single nucleotide variant |
not provided [RCV002220084] |
Chr2:96283651 [GRCh38] Chr2:96949389 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4764-20C>T |
single nucleotide variant |
not provided [RCV002137133] |
Chr2:96283372 [GRCh38] Chr2:96949110 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2907G>A (p.Leu969=) |
single nucleotide variant |
not provided [RCV002220399] |
Chr2:96289832 [GRCh38] Chr2:96955570 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3747G>A (p.Glu1249=) |
single nucleotide variant |
not provided [RCV002123392] |
Chr2:96286770 [GRCh38] Chr2:96952508 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1512T>C (p.Pro504=) |
single nucleotide variant |
not provided [RCV002159851] |
Chr2:96296936 [GRCh38] Chr2:96962674 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3366-15C>G |
single nucleotide variant |
not provided [RCV002144498] |
Chr2:96287572 [GRCh38] Chr2:96953310 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.574+13T>C |
single nucleotide variant |
not provided [RCV002154212] |
Chr2:96301511 [GRCh38] Chr2:96967249 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.381+12A>T |
single nucleotide variant |
not provided [RCV002100044] |
Chr2:96303147 [GRCh38] Chr2:96968885 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4165-5G>A |
single nucleotide variant |
not provided [RCV002143162] |
Chr2:96284590 [GRCh38] Chr2:96950328 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4164+12C>T |
single nucleotide variant |
not provided [RCV002143216] |
Chr2:96285168 [GRCh38] Chr2:96950906 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2422-10G>T |
single nucleotide variant |
not provided [RCV002204295] |
Chr2:96290825 [GRCh38] Chr2:96956563 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4563C>T (p.Val1521=) |
single nucleotide variant |
not provided [RCV002163856] |
Chr2:96283834 [GRCh38] Chr2:96949572 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3765C>T (p.Phe1255=) |
single nucleotide variant |
not provided [RCV002118357] |
Chr2:96286752 [GRCh38] Chr2:96952490 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2121C>A (p.Ile707=) |
single nucleotide variant |
not provided [RCV002084024] |
Chr2:96293011 [GRCh38] Chr2:96958749 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5024+10A>G |
single nucleotide variant |
not provided [RCV002219244] |
Chr2:96281804 [GRCh38] Chr2:96947542 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3783G>T (p.Pro1261=) |
single nucleotide variant |
not provided [RCV002178320] |
Chr2:96286734 [GRCh38] Chr2:96952472 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1203+7T>C |
single nucleotide variant |
not provided [RCV002155238] |
Chr2:96297630 [GRCh38] Chr2:96963368 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5489-9T>C |
single nucleotide variant |
not provided [RCV002138520] |
Chr2:96278367 [GRCh38] Chr2:96944105 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.927G>T (p.Leu309=) |
single nucleotide variant |
not provided [RCV002164439] |
Chr2:96298658 [GRCh38] Chr2:96964396 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2941-15C>G |
single nucleotide variant |
not provided [RCV002218147] |
Chr2:96289394 [GRCh38] Chr2:96955132 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.730-14G>C |
single nucleotide variant |
not provided [RCV002162710] |
Chr2:96298981 [GRCh38] Chr2:96964719 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3094-8T>C |
single nucleotide variant |
not provided [RCV002157633] |
Chr2:96289125 [GRCh38] Chr2:96954863 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.630+12A>G |
single nucleotide variant |
not provided [RCV002161149] |
Chr2:96300986 [GRCh38] Chr2:96966724 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4527C>T (p.Thr1509=) |
single nucleotide variant |
not provided [RCV002218755] |
Chr2:96283870 [GRCh38] Chr2:96949608 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6093-8C>T |
single nucleotide variant |
not provided [RCV002200082] |
Chr2:96276993 [GRCh38] Chr2:96942731 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6063T>C (p.Tyr2021=) |
single nucleotide variant |
not provided [RCV002156293] |
Chr2:96277110 [GRCh38] Chr2:96942848 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4393-23CCTC[5] |
microsatellite |
not provided [RCV002175733] |
Chr2:96284011..96284012 [GRCh38] Chr2:96949749..96949750 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5733T>C (p.Asp1911=) |
single nucleotide variant |
not provided [RCV002175886] |
Chr2:96277828 [GRCh38] Chr2:96943566 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4393-11C>T |
single nucleotide variant |
not provided [RCV002102261] |
Chr2:96284015 [GRCh38] Chr2:96949753 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3639+18A>T |
single nucleotide variant |
not provided [RCV002175927] |
Chr2:96286988 [GRCh38] Chr2:96952726 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4836G>A (p.Thr1612=) |
single nucleotide variant |
Retinal dystrophy [RCV003889086]|not provided [RCV002141345] |
Chr2:96283280 [GRCh38] Chr2:96949018 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5763G>C (p.Arg1921=) |
single nucleotide variant |
not provided [RCV002198788] |
Chr2:96277707 [GRCh38] Chr2:96943445 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4763+17G>A |
single nucleotide variant |
not provided [RCV002141474] |
Chr2:96283518 [GRCh38] Chr2:96949256 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1833C>T (p.Leu611=) |
single nucleotide variant |
not provided [RCV002183521] |
Chr2:96295497 [GRCh38] Chr2:96961235 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1516-4G>T |
single nucleotide variant |
not provided [RCV002141640] |
Chr2:96296695 [GRCh38] Chr2:96962433 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.777C>T (p.His259=) |
single nucleotide variant |
not provided [RCV002118899] |
Chr2:96298920 [GRCh38] Chr2:96964658 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5799T>C (p.Asn1933=) |
single nucleotide variant |
not provided [RCV002138762] |
Chr2:96277671 [GRCh38] Chr2:96943409 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5874A>T (p.Ser1958=) |
single nucleotide variant |
not provided [RCV002161603] |
Chr2:96277596 [GRCh38] Chr2:96943334 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2820T>C (p.His940=) |
single nucleotide variant |
not provided [RCV002183110] |
Chr2:96289919 [GRCh38] Chr2:96955657 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.81C>T (p.Leu27=) |
single nucleotide variant |
not provided [RCV002140755] |
Chr2:96304833 [GRCh38] Chr2:96970571 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5079C>A (p.Arg1693=) |
single nucleotide variant |
not provided [RCV002135905] |
Chr2:96279505 [GRCh38] Chr2:96945243 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4827C>A (p.Leu1609=) |
single nucleotide variant |
not provided [RCV002203844] |
Chr2:96283289 [GRCh38] Chr2:96949027 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3175-10T>A |
single nucleotide variant |
not provided [RCV002181113] |
Chr2:96288756 [GRCh38] Chr2:96954494 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.369T>C (p.Ala123=) |
single nucleotide variant |
not provided [RCV002219101] |
Chr2:96303171 [GRCh38] Chr2:96968909 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4314A>T (p.Arg1438=) |
single nucleotide variant |
not provided [RCV002141546] |
Chr2:96284436 [GRCh38] Chr2:96950174 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5932-19G>A |
single nucleotide variant |
not provided [RCV002138173] |
Chr2:96277260 [GRCh38] Chr2:96942998 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5754+13T>C |
single nucleotide variant |
not provided [RCV002156779] |
Chr2:96277794 [GRCh38] Chr2:96943532 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5220C>T (p.Ile1740=) |
single nucleotide variant |
not provided [RCV002137967] |
Chr2:96278912 [GRCh38] Chr2:96944650 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4393-12C>T |
single nucleotide variant |
not provided [RCV002204137] |
Chr2:96284016 [GRCh38] Chr2:96949754 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.574+11G>T |
single nucleotide variant |
not provided [RCV002203829] |
Chr2:96301513 [GRCh38] Chr2:96967251 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5488+19C>G |
single nucleotide variant |
not provided [RCV002183919] |
Chr2:96278528 [GRCh38] Chr2:96944266 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.46-16G>T |
single nucleotide variant |
not provided [RCV002082421] |
Chr2:96304884 [GRCh38] Chr2:96970622 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3366-9C>T |
single nucleotide variant |
not provided [RCV002138683] |
Chr2:96287566 [GRCh38] Chr2:96953304 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1080C>G (p.Leu360=) |
single nucleotide variant |
not provided [RCV002184229] |
Chr2:96298323 [GRCh38] Chr2:96964061 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6268-5del |
deletion |
not provided [RCV002158964] |
Chr2:96275160 [GRCh38] Chr2:96940898 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6384A>G (p.Glu2128=) |
single nucleotide variant |
not provided [RCV002155413] |
Chr2:96275039 [GRCh38] Chr2:96940777 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.516A>G (p.Leu172=) |
single nucleotide variant |
not provided [RCV002176804] |
Chr2:96301582 [GRCh38] Chr2:96967320 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1516-8T>C |
single nucleotide variant |
not provided [RCV002140533] |
Chr2:96296699 [GRCh38] Chr2:96962437 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3894A>G (p.Pro1298=) |
single nucleotide variant |
not provided [RCV002182515] |
Chr2:96286420 [GRCh38] Chr2:96952158 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4161G>A (p.Glu1387=) |
single nucleotide variant |
not provided [RCV002122556] |
Chr2:96285183 [GRCh38] Chr2:96950921 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1842+19T>C |
single nucleotide variant |
not provided [RCV002140326] |
Chr2:96295469 [GRCh38] Chr2:96961207 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3757A>G (p.Thr1253Ala) |
single nucleotide variant |
not provided [RCV003110272] |
Chr2:96286760 [GRCh38] Chr2:96952498 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NC_000002.11:g.(?_96959198)_(96961039_?)del |
deletion |
not provided [RCV003116677] |
Chr2:96959198..96961039 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4916-6G>A |
single nucleotide variant |
not provided [RCV003118767] |
Chr2:96281928 [GRCh38] Chr2:96947666 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4892T>C (p.Leu1631Pro) |
single nucleotide variant |
not provided [RCV004779592] |
Chr2:96283224 [GRCh38] Chr2:96948962 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV002251208]|not provided [RCV003094086] |
Chr2:96296591 [GRCh38] Chr2:96962329 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2068G>A (p.Val690Met) |
single nucleotide variant |
not provided [RCV002276315] |
Chr2:96293064 [GRCh38] Chr2:96958802 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5914A>C (p.Lys1972Gln) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV002289350] |
Chr2:96277556 [GRCh38] Chr2:96943294 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3232A>T (p.Met1078Leu) |
single nucleotide variant |
not provided [RCV002290943] |
Chr2:96288689 [GRCh38] Chr2:96954427 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.346C>A (p.Leu116Ile) |
single nucleotide variant |
not provided [RCV002297788] |
Chr2:96303194 [GRCh38] Chr2:96968932 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
pathogenic |
NM_014014.5(SNRNP200):c.4423C>T (p.Arg1475Cys) |
single nucleotide variant |
not provided [RCV002297726] |
Chr2:96283974 [GRCh38] Chr2:96949712 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5735C>T (p.Thr1912Met) |
single nucleotide variant |
not provided [RCV002681547] |
Chr2:96277826 [GRCh38] Chr2:96943564 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4975C>A (p.His1659Asn) |
single nucleotide variant |
not provided [RCV002302907] |
Chr2:96281863 [GRCh38] Chr2:96947601 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5323+11T>G |
single nucleotide variant |
not provided [RCV002681360] |
Chr2:96278798 [GRCh38] Chr2:96944536 [GRCh37] Chr2:2q11.2 |
likely benign |
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 |
copy number gain |
not provided [RCV002473932] |
Chr2:95341388..100340514 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.1216C>T (p.Arg406Trp) |
single nucleotide variant |
not provided [RCV002299875] |
Chr2:96297524 [GRCh38] Chr2:96963262 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4600C>T (p.His1534Tyr) |
single nucleotide variant |
not provided [RCV002298985] |
Chr2:96283698 [GRCh38] Chr2:96949436 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3699T>G (p.Ile1233Met) |
single nucleotide variant |
not provided [RCV002301384] |
Chr2:96286818 [GRCh38] Chr2:96952556 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2950C>A (p.Leu984Met) |
single nucleotide variant |
not provided [RCV002299118] |
Chr2:96289370 [GRCh38] Chr2:96955108 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.739T>G (p.Ser247Ala) |
single nucleotide variant |
not provided [RCV002303137] |
Chr2:96298958 [GRCh38] Chr2:96964696 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3012G>A (p.Leu1004=) |
single nucleotide variant |
not provided [RCV002751072] |
Chr2:96289308 [GRCh38] Chr2:96955046 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.149C>G (p.Thr50Ser) |
single nucleotide variant |
not provided [RCV003013562] |
Chr2:96304765 [GRCh38] Chr2:96970503 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3366-6G>A |
single nucleotide variant |
not provided [RCV003015941] |
Chr2:96287563 [GRCh38] Chr2:96953301 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2773C>T (p.Leu925Phe) |
single nucleotide variant |
not provided [RCV002967692] |
Chr2:96289966 [GRCh38] Chr2:96955704 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4530C>T (p.Ser1510=) |
single nucleotide variant |
not provided [RCV002863334] |
Chr2:96283867 [GRCh38] Chr2:96949605 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1533C>G (p.Asn511Lys) |
single nucleotide variant |
not provided [RCV003012459] |
Chr2:96296674 [GRCh38] Chr2:96962412 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2044C>G (p.Pro682Ala) |
single nucleotide variant |
not provided [RCV002815699] |
Chr2:96293088 [GRCh38] Chr2:96958826 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1755C>A (p.Ile585=) |
single nucleotide variant |
not provided [RCV002731196] |
Chr2:96295575 [GRCh38] Chr2:96961313 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5962A>G (p.Met1988Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002906103] |
Chr2:96277211 [GRCh38] Chr2:96942949 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2251T>G (p.Phe751Val) |
single nucleotide variant |
not provided [RCV003011694] |
Chr2:96291810 [GRCh38] Chr2:96957548 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4596C>T (p.Ile1532=) |
single nucleotide variant |
not provided [RCV002862423] |
Chr2:96283702 [GRCh38] Chr2:96949440 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.983-14T>G |
single nucleotide variant |
not provided [RCV002838772] |
Chr2:96298434 [GRCh38] Chr2:96964172 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1458T>C (p.Ser486=) |
single nucleotide variant |
not provided [RCV003014349] |
Chr2:96296990 [GRCh38] Chr2:96962728 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5953A>G (p.Ile1985Val) |
single nucleotide variant |
not provided [RCV002815385] |
Chr2:96277220 [GRCh38] Chr2:96942958 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4164+13G>A |
single nucleotide variant |
not provided [RCV002618361] |
Chr2:96285167 [GRCh38] Chr2:96950905 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2820TGA[1] (p.Asp942del) |
microsatellite |
not provided [RCV002819262] |
Chr2:96289914..96289916 [GRCh38] Chr2:96955652..96955654 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4278C>G (p.Ile1426Met) |
single nucleotide variant |
not provided [RCV002971239] |
Chr2:96284472 [GRCh38] Chr2:96950210 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1120-7A>T |
single nucleotide variant |
not provided [RCV002842895] |
Chr2:96297727 [GRCh38] Chr2:96963465 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1515+19G>T |
single nucleotide variant |
not provided [RCV002993499] |
Chr2:96296914 [GRCh38] Chr2:96962652 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2380C>T (p.Arg794Ter) |
single nucleotide variant |
not provided [RCV002880973] |
Chr2:96291433 [GRCh38] Chr2:96957171 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4594A>G (p.Ile1532Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004673769]|not provided [RCV003015171] |
Chr2:96283704 [GRCh38] Chr2:96949442 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6397A>G (p.Ser2133Gly) |
single nucleotide variant |
not provided [RCV002971845] |
Chr2:96275026 [GRCh38] Chr2:96940764 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4429A>C (p.Ile1477Leu) |
single nucleotide variant |
not provided [RCV002838328] |
Chr2:96283968 [GRCh38] Chr2:96949706 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1673G>C (p.Arg558Pro) |
single nucleotide variant |
not provided [RCV002755164] |
Chr2:96295657 [GRCh38] Chr2:96961395 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1600G>A (p.Asp534Asn) |
single nucleotide variant |
not provided [RCV002750188] |
Chr2:96296607 [GRCh38] Chr2:96962345 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1519G>A (p.Ala507Thr) |
single nucleotide variant |
not provided [RCV002511302] |
Chr2:96296688 [GRCh38] Chr2:96962426 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3031G>A (p.Glu1011Lys) |
single nucleotide variant |
not provided [RCV002613942] |
Chr2:96289289 [GRCh38] Chr2:96955027 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5755-10T>C |
single nucleotide variant |
not provided [RCV002991601] |
Chr2:96277725 [GRCh38] Chr2:96943463 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2127T>C (p.Tyr709=) |
single nucleotide variant |
not provided [RCV002617313] |
Chr2:96293005 [GRCh38] Chr2:96958743 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2580G>T (p.Gln860His) |
single nucleotide variant |
not provided [RCV002839427] |
Chr2:96290488 [GRCh38] Chr2:96956226 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4911C>T (p.Ser1637=) |
single nucleotide variant |
not provided [RCV002816474] |
Chr2:96283205 [GRCh38] Chr2:96948943 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.882+5G>A |
single nucleotide variant |
not provided [RCV003015630] |
Chr2:96298810 [GRCh38] Chr2:96964548 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2471A>G (p.His824Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002907299] |
Chr2:96290766 [GRCh38] Chr2:96956504 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5191T>A (p.Cys1731Ser) |
single nucleotide variant |
not provided [RCV002617373] |
Chr2:96278941 [GRCh38] Chr2:96944679 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3093+9A>G |
single nucleotide variant |
not provided [RCV002614318] |
Chr2:96289218 [GRCh38] Chr2:96954956 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5114T>C (p.Met1705Thr) |
single nucleotide variant |
not provided [RCV002614771] |
Chr2:96279470 [GRCh38] Chr2:96945208 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3366-13C>T |
single nucleotide variant |
not provided [RCV002685898] |
Chr2:96287570 [GRCh38] Chr2:96953308 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.375G>C (p.Gly125=) |
single nucleotide variant |
not provided [RCV002776310] |
Chr2:96303165 [GRCh38] Chr2:96968903 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2416A>G (p.Ile806Val) |
single nucleotide variant |
not provided [RCV002842694] |
Chr2:96291397 [GRCh38] Chr2:96957135 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2699T>C (p.Met900Thr) |
single nucleotide variant |
not provided [RCV002614086] |
Chr2:96290369 [GRCh38] Chr2:96956107 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1842+20A>G |
single nucleotide variant |
not provided [RCV002996792] |
Chr2:96295468 [GRCh38] Chr2:96961206 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3790C>G (p.Pro1264Ala) |
single nucleotide variant |
not provided [RCV003032661] |
Chr2:96286727 [GRCh38] Chr2:96952465 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1533C>T (p.Asn511=) |
single nucleotide variant |
not provided [RCV002750538] |
Chr2:96296674 [GRCh38] Chr2:96962412 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1120-6C>T |
single nucleotide variant |
not provided [RCV002617314] |
Chr2:96297726 [GRCh38] Chr2:96963464 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3402A>G (p.Lys1134=) |
single nucleotide variant |
not provided [RCV002816068] |
Chr2:96287521 [GRCh38] Chr2:96953259 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6314C>T (p.Thr2105Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002882433] |
Chr2:96275109 [GRCh38] Chr2:96940847 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1120-4A>T |
single nucleotide variant |
not provided [RCV002616938] |
Chr2:96297724 [GRCh38] Chr2:96963462 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3536A>G (p.His1179Arg) |
single nucleotide variant |
not provided [RCV002996762] |
Chr2:96287109 [GRCh38] Chr2:96952847 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.325A>C (p.Thr109Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002779536]|not provided [RCV003548981] |
Chr2:96303215 [GRCh38] Chr2:96968953 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5611-13T>G |
single nucleotide variant |
not provided [RCV002617522] |
Chr2:96277963 [GRCh38] Chr2:96943701 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5932-17C>T |
single nucleotide variant |
not provided [RCV002914140] |
Chr2:96277258 [GRCh38] Chr2:96942996 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.168T>C (p.Ala56=) |
single nucleotide variant |
not provided [RCV002870753] |
Chr2:96304746 [GRCh38] Chr2:96970484 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3209T>C (p.Leu1070Pro) |
single nucleotide variant |
not provided [RCV002695664] |
Chr2:96288712 [GRCh38] Chr2:96954450 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3180C>T (p.Asn1060=) |
single nucleotide variant |
not provided [RCV002800468] |
Chr2:96288741 [GRCh38] Chr2:96954479 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5931+15C>T |
single nucleotide variant |
not provided [RCV002623195] |
Chr2:96277524 [GRCh38] Chr2:96943262 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3475_3477del (p.Asn1159del) |
deletion |
not provided [RCV003022067] |
Chr2:96287446..96287448 [GRCh38] Chr2:96953184..96953186 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6174+13A>G |
single nucleotide variant |
not provided [RCV003053617] |
Chr2:96276891 [GRCh38] Chr2:96942629 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.97C>T (p.Arg33Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002849009] |
Chr2:96304817 [GRCh38] Chr2:96970555 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4200G>T (p.Arg1400Ser) |
single nucleotide variant |
not provided [RCV003081581] |
Chr2:96284550 [GRCh38] Chr2:96950288 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4624A>G (p.Met1542Val) |
single nucleotide variant |
not provided [RCV003055465] |
Chr2:96283674 [GRCh38] Chr2:96949412 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4365G>A (p.Glu1455=) |
single nucleotide variant |
not provided [RCV003055332] |
Chr2:96284385 [GRCh38] Chr2:96950123 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1204G>A (p.Ala402Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002623144]|not provided [RCV002657776] |
Chr2:96297536 [GRCh38] Chr2:96963274 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.381+13T>G |
single nucleotide variant |
not provided [RCV002735033] |
Chr2:96303146 [GRCh38] Chr2:96968884 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1516-11C>G |
single nucleotide variant |
not provided [RCV002659141] |
Chr2:96296702 [GRCh38] Chr2:96962440 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3314C>T (p.Ala1105Val) |
single nucleotide variant |
not provided [RCV002846782] |
Chr2:96287914 [GRCh38] Chr2:96953652 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1731AGA[1] (p.Glu579del) |
microsatellite |
not provided [RCV002867569] |
Chr2:96295594..96295596 [GRCh38] Chr2:96961332..96961334 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1309C>T (p.Arg437Cys) |
single nucleotide variant |
not provided [RCV003020089] |
Chr2:96297431 [GRCh38] Chr2:96963169 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5301C>T (p.Asn1767=) |
single nucleotide variant |
not provided [RCV003020267] |
Chr2:96278831 [GRCh38] Chr2:96944569 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5021A>G (p.His1674Arg) |
single nucleotide variant |
not provided [RCV003054098] |
Chr2:96281817 [GRCh38] Chr2:96947555 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1dup (p.Met1fs) |
duplication |
not provided [RCV002999995] |
Chr2:96305436..96305437 [GRCh38] Chr2:96971174..96971175 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5931+3G>A |
single nucleotide variant |
not provided [RCV002760133] |
Chr2:96277536 [GRCh38] Chr2:96943274 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1196G>A (p.Gly399Asp) |
single nucleotide variant |
not provided [RCV002735676] |
Chr2:96297644 [GRCh38] Chr2:96963382 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5932-8C>T |
single nucleotide variant |
not provided [RCV003019231] |
Chr2:96277249 [GRCh38] Chr2:96942987 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1466A>G (p.Tyr489Cys) |
single nucleotide variant |
not provided [RCV002999316] |
Chr2:96296982 [GRCh38] Chr2:96962720 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1981G>C (p.Val661Leu) |
single nucleotide variant |
not provided [RCV002866224] |
Chr2:96293371 [GRCh38] Chr2:96959109 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1361C>T (p.Pro454Leu) |
single nucleotide variant |
not provided [RCV002591152] |
Chr2:96297379 [GRCh38] Chr2:96963117 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4392+17C>A |
single nucleotide variant |
not provided [RCV002847235] |
Chr2:96284341 [GRCh38] Chr2:96950079 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.868T>C (p.Leu290=) |
single nucleotide variant |
not provided [RCV002640039] |
Chr2:96298829 [GRCh38] Chr2:96964567 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1516-4G>A |
single nucleotide variant |
not provided [RCV002691056] |
Chr2:96296695 [GRCh38] Chr2:96962433 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3655G>A (p.Glu1219Lys) |
single nucleotide variant |
not provided [RCV002909677] |
Chr2:96286862 [GRCh38] Chr2:96952600 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1370C>T (p.Ser457Leu) |
single nucleotide variant |
not provided [RCV003020975] |
Chr2:96297370 [GRCh38] Chr2:96963108 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3155T>C (p.Ile1052Thr) |
single nucleotide variant |
not provided [RCV002979928] |
Chr2:96289056 [GRCh38] Chr2:96954794 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3075_3076insTG (p.Asn1026Ter) |
insertion |
not provided [RCV002820380] |
Chr2:96289244..96289245 [GRCh38] Chr2:96954982..96954983 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4322A>C (p.Gln1441Pro) |
single nucleotide variant |
not provided [RCV003054521] |
Chr2:96284428 [GRCh38] Chr2:96950166 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6240G>A (p.Lys2080=) |
single nucleotide variant |
not provided [RCV002658704] |
Chr2:96275284 [GRCh38] Chr2:96941022 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6237C>T (p.Ile2079=) |
single nucleotide variant |
not provided [RCV002658705] |
Chr2:96275287 [GRCh38] Chr2:96941025 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5472C>T (p.Ile1824=) |
single nucleotide variant |
not provided [RCV002622714] |
Chr2:96278563 [GRCh38] Chr2:96944301 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1338T>C (p.His446=) |
single nucleotide variant |
not provided [RCV002639585] |
Chr2:96297402 [GRCh38] Chr2:96963140 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.4004-13T>C |
single nucleotide variant |
not provided [RCV002591273] |
Chr2:96285353 [GRCh38] Chr2:96951091 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1052A>G (p.Glu351Gly) |
single nucleotide variant |
not provided [RCV003054787] |
Chr2:96298351 [GRCh38] Chr2:96964089 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4916-14C>A |
single nucleotide variant |
not provided [RCV002695565] |
Chr2:96281936 [GRCh38] Chr2:96947674 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2389G>A (p.Val797Met) |
single nucleotide variant |
not provided [RCV002569869] |
Chr2:96291424 [GRCh38] Chr2:96957162 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5024C>T (p.Ala1675Val) |
single nucleotide variant |
not provided [RCV002636495] |
Chr2:96281814 [GRCh38] Chr2:96947552 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3946G>T (p.Ala1316Ser) |
single nucleotide variant |
not provided [RCV002705286] |
Chr2:96286368 [GRCh38] Chr2:96952106 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4447C>A (p.Arg1483=) |
single nucleotide variant |
not provided [RCV002953046] |
Chr2:96283950 [GRCh38] Chr2:96949688 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2245G>A (p.Gly749Ser) |
single nucleotide variant |
not provided [RCV002795462] |
Chr2:96291816 [GRCh38] Chr2:96957554 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3819C>T (p.Asp1273=) |
single nucleotide variant |
not provided [RCV003038368] |
Chr2:96286698 [GRCh38] Chr2:96952436 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1082A>G (p.Tyr361Cys) |
single nucleotide variant |
not provided [RCV002824372] |
Chr2:96298321 [GRCh38] Chr2:96964059 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.699G>T (p.Glu233Asp) |
single nucleotide variant |
not provided [RCV003019748] |
Chr2:96299359 [GRCh38] Chr2:96965097 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4916-13C>T |
single nucleotide variant |
not provided [RCV002622053] |
Chr2:96281935 [GRCh38] Chr2:96947673 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5506C>G (p.Leu1836Val) |
single nucleotide variant |
not provided [RCV002823976] |
Chr2:96278341 [GRCh38] Chr2:96944079 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5488+14T>C |
single nucleotide variant |
not provided [RCV002622277] |
Chr2:96278533 [GRCh38] Chr2:96944271 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4556G>A (p.Arg1519His) |
single nucleotide variant |
not provided [RCV003026196] |
Chr2:96283841 [GRCh38] Chr2:96949579 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1448G>A (p.Arg483Gln) |
single nucleotide variant |
Retinal dystrophy [RCV004817074]|not provided [RCV002645646] |
Chr2:96297000 [GRCh38] Chr2:96962738 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5931+12C>A |
single nucleotide variant |
not provided [RCV002933220] |
Chr2:96277527 [GRCh38] Chr2:96943265 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2047G>A (p.Val683Met) |
single nucleotide variant |
not provided [RCV003026153] |
Chr2:96293085 [GRCh38] Chr2:96958823 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.233G>A (p.Arg78Gln) |
single nucleotide variant |
not provided [RCV002626301] |
Chr2:96303307 [GRCh38] Chr2:96969045 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1021G>A (p.Ala341Thr) |
single nucleotide variant |
not provided [RCV002741372] |
Chr2:96298382 [GRCh38] Chr2:96964120 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3366-15C>T |
single nucleotide variant |
not provided [RCV002597187] |
Chr2:96287572 [GRCh38] Chr2:96953310 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2655A>G (p.Gln885=) |
single nucleotide variant |
not provided [RCV002852566] |
Chr2:96290413 [GRCh38] Chr2:96956151 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2085A>G (p.Lys695=) |
single nucleotide variant |
not provided [RCV003023176] |
Chr2:96293047 [GRCh38] Chr2:96958785 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3640-11C>T |
single nucleotide variant |
not provided [RCV002932449] |
Chr2:96286888 [GRCh38] Chr2:96952626 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5323+17G>A |
single nucleotide variant |
not provided [RCV002894246] |
Chr2:96278792 [GRCh38] Chr2:96944530 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2144A>G (p.His715Arg) |
single nucleotide variant |
not provided [RCV003007526] |
Chr2:96292988 [GRCh38] Chr2:96958726 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1851T>C (p.Ile617=) |
single nucleotide variant |
not provided [RCV002627090] |
Chr2:96293501 [GRCh38] Chr2:96959239 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4389T>C (p.Asn1463=) |
single nucleotide variant |
not provided [RCV002852492] |
Chr2:96284361 [GRCh38] Chr2:96950099 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4894G>T (p.Val1632Leu) |
single nucleotide variant |
not provided [RCV002851276] |
Chr2:96283222 [GRCh38] Chr2:96948960 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4653C>T (p.Thr1551=) |
single nucleotide variant |
not provided [RCV002982601] |
Chr2:96283645 [GRCh38] Chr2:96949383 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2298T>C (p.Ala766=) |
single nucleotide variant |
not provided [RCV002931860] |
Chr2:96291763 [GRCh38] Chr2:96957501 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.15C>G (p.Thr5=) |
single nucleotide variant |
not provided [RCV002851924] |
Chr2:96305423 [GRCh38] Chr2:96971161 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3969T>G (p.Asp1323Glu) |
single nucleotide variant |
not provided [RCV002574070] |
Chr2:96286345 [GRCh38] Chr2:96952083 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6174+7C>T |
single nucleotide variant |
not provided [RCV002574875] |
Chr2:96276897 [GRCh38] Chr2:96942635 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.630+14A>C |
single nucleotide variant |
not provided [RCV002710895] |
Chr2:96300984 [GRCh38] Chr2:96966722 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6170C>T (p.Pro2057Leu) |
single nucleotide variant |
not provided [RCV002711516] |
Chr2:96276908 [GRCh38] Chr2:96942646 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5284C>T (p.Arg1762Cys) |
single nucleotide variant |
not provided [RCV002745504] |
Chr2:96278848 [GRCh38] Chr2:96944586 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3281C>T (p.Ala1094Val) |
single nucleotide variant |
not provided [RCV002894297] |
Chr2:96287947 [GRCh38] Chr2:96953685 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4004-18C>G |
single nucleotide variant |
not provided [RCV002574069] |
Chr2:96285358 [GRCh38] Chr2:96951096 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1151A>C (p.Gln384Pro) |
single nucleotide variant |
not provided [RCV002642981] |
Chr2:96297689 [GRCh38] Chr2:96963427 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4585-15C>A |
single nucleotide variant |
not provided [RCV002853057] |
Chr2:96283728 [GRCh38] Chr2:96949466 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1585G>A (p.Gly529Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002931673]|not provided [RCV003443157] |
Chr2:96296622 [GRCh38] Chr2:96962360 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.807G>A (p.Gln269=) |
single nucleotide variant |
not provided [RCV002711217] |
Chr2:96298890 [GRCh38] Chr2:96964628 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1118G>A (p.Arg373Gln) |
single nucleotide variant |
Retinal dystrophy [RCV003889130]|not provided [RCV002594639] |
Chr2:96298285 [GRCh38] Chr2:96964023 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5610+6G>A |
single nucleotide variant |
not provided [RCV003043445] |
Chr2:96278231 [GRCh38] Chr2:96943969 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5365G>A (p.Val1789Met) |
single nucleotide variant |
not provided [RCV003058015] |
Chr2:96278670 [GRCh38] Chr2:96944408 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3175-14T>C |
single nucleotide variant |
not provided [RCV002597070] |
Chr2:96288760 [GRCh38] Chr2:96954498 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4984A>G (p.Ile1662Val) |
single nucleotide variant |
not provided [RCV003025544] |
Chr2:96281854 [GRCh38] Chr2:96947592 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3480G>C (p.Glu1160Asp) |
single nucleotide variant |
not provided [RCV002828859] |
Chr2:96287443 [GRCh38] Chr2:96953181 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5117G>T (p.Cys1706Phe) |
single nucleotide variant |
not provided [RCV002829996] |
Chr2:96279467 [GRCh38] Chr2:96945205 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4891C>T (p.Leu1631=) |
single nucleotide variant |
not provided [RCV002914679] |
Chr2:96283225 [GRCh38] Chr2:96948963 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4555C>T (p.Arg1519Cys) |
single nucleotide variant |
not provided [RCV003024779] |
Chr2:96283842 [GRCh38] Chr2:96949580 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.983-10T>C |
single nucleotide variant |
not provided [RCV002626104] |
Chr2:96298430 [GRCh38] Chr2:96964168 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5050G>A (p.Val1684Met) |
single nucleotide variant |
not provided [RCV002626106] |
Chr2:96279534 [GRCh38] Chr2:96945272 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5583G>A (p.Arg1861=) |
single nucleotide variant |
not provided [RCV002765696] |
Chr2:96278264 [GRCh38] Chr2:96944002 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2743-17T>C |
single nucleotide variant |
not provided [RCV002575772] |
Chr2:96290013 [GRCh38] Chr2:96955751 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5324-11C>T |
single nucleotide variant |
not provided [RCV002712049] |
Chr2:96278722 [GRCh38] Chr2:96944460 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3210G>A (p.Leu1070=) |
single nucleotide variant |
not provided [RCV003023964] |
Chr2:96288711 [GRCh38] Chr2:96954449 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1925C>T (p.Thr642Ile) |
single nucleotide variant |
not provided [RCV003057695] |
Chr2:96293427 [GRCh38] Chr2:96959165 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2910C>T (p.Val970=) |
single nucleotide variant |
not provided [RCV002851068] |
Chr2:96289829 [GRCh38] Chr2:96955567 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1120-17A>T |
single nucleotide variant |
not provided [RCV003024937] |
Chr2:96297737 [GRCh38] Chr2:96963475 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6026G>A (p.Arg2009His) |
single nucleotide variant |
Retinal dystrophy [RCV003889210]|not provided [RCV003057693] |
Chr2:96277147 [GRCh38] Chr2:96942885 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2858G>A (p.Arg953Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002942137]|Retinal dystrophy [RCV004817141]|not provided [RCV002915003] |
Chr2:96289881 [GRCh38] Chr2:96955619 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4447C>T (p.Arg1483Trp) |
single nucleotide variant |
not provided [RCV002715392] |
Chr2:96283950 [GRCh38] Chr2:96949688 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2037-18dup |
duplication |
not provided [RCV002631550] |
Chr2:96293112..96293113 [GRCh38] Chr2:96958850..96958851 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4585-5G>A |
single nucleotide variant |
not provided [RCV002967036] |
Chr2:96283718 [GRCh38] Chr2:96949456 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2220C>T (p.Asp740=) |
single nucleotide variant |
not provided [RCV002676662] |
Chr2:96291841 [GRCh38] Chr2:96957579 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5736G>A (p.Thr1912=) |
single nucleotide variant |
not provided [RCV003026603] |
Chr2:96277825 [GRCh38] Chr2:96943563 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4036G>T (p.Val1346Leu) |
single nucleotide variant |
not provided [RCV002715155] |
Chr2:96285308 [GRCh38] Chr2:96951046 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.209+18A>G |
single nucleotide variant |
not provided [RCV002671451] |
Chr2:96304687 [GRCh38] Chr2:96970425 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4975C>T (p.His1659Tyr) |
single nucleotide variant |
not provided [RCV002833309] |
Chr2:96281863 [GRCh38] Chr2:96947601 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4875C>T (p.Ser1625=) |
single nucleotide variant |
not provided [RCV002811021] |
Chr2:96283241 [GRCh38] Chr2:96948979 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2853G>A (p.Gln951=) |
single nucleotide variant |
not provided [RCV002811037] |
Chr2:96289886 [GRCh38] Chr2:96955624 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5822C>G (p.Ala1941Gly) |
single nucleotide variant |
not provided [RCV002806430] |
Chr2:96277648 [GRCh38] Chr2:96943386 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4371C>T (p.His1457=) |
single nucleotide variant |
not provided [RCV003030482] |
Chr2:96284379 [GRCh38] Chr2:96950117 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1203+11G>T |
single nucleotide variant |
not provided [RCV003046109] |
Chr2:96297626 [GRCh38] Chr2:96963364 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1390G>C (p.Val464Leu) |
single nucleotide variant |
not provided [RCV003045404] |
Chr2:96297058 [GRCh38] Chr2:96962796 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4680T>G (p.Ile1560Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004068215]|not provided [RCV002966624] |
Chr2:96283618 [GRCh38] Chr2:96949356 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.733G>C (p.Val245Leu) |
single nucleotide variant |
not provided [RCV003045038] |
Chr2:96298964 [GRCh38] Chr2:96964702 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4986CAT[1] (p.Ile1663del) |
microsatellite |
not provided [RCV002832990] |
Chr2:96281847..96281849 [GRCh38] Chr2:96947585..96947587 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1380A>G (p.Gln460=) |
single nucleotide variant |
not provided [RCV002857056] |
Chr2:96297068 [GRCh38] Chr2:96962806 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3648T>C (p.Gly1216=) |
single nucleotide variant |
not provided [RCV003027839] |
Chr2:96286869 [GRCh38] Chr2:96952607 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.46-7_46-3del |
deletion |
not provided [RCV002834818] |
Chr2:96304871..96304875 [GRCh38] Chr2:96970609..96970613 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5134-5C>T |
single nucleotide variant |
not provided [RCV002791796] |
Chr2:96279003 [GRCh38] Chr2:96944741 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4813A>C (p.Ser1605Arg) |
single nucleotide variant |
not provided [RCV002630243] |
Chr2:96283303 [GRCh38] Chr2:96949041 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.1516-12C>A |
single nucleotide variant |
not provided [RCV002834694] |
Chr2:96296703 [GRCh38] Chr2:96962441 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1520C>T (p.Ala507Val) |
single nucleotide variant |
Retinal dystrophy [RCV003889200]|not provided [RCV003010180] |
Chr2:96296687 [GRCh38] Chr2:96962425 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1073A>G (p.Lys358Arg) |
single nucleotide variant |
not provided [RCV002578459] |
Chr2:96298330 [GRCh38] Chr2:96964068 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3258+6A>G |
single nucleotide variant |
not provided [RCV002630100] |
Chr2:96288657 [GRCh38] Chr2:96954395 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6150T>A (p.Pro2050=) |
single nucleotide variant |
not provided [RCV003089336] |
Chr2:96276928 [GRCh38] Chr2:96942666 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1308_1310dup (p.Arg437_Gln438insArg) |
duplication |
not provided [RCV002856385] |
Chr2:96297429..96297430 [GRCh38] Chr2:96963167..96963168 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1266T>C (p.Phe422=) |
single nucleotide variant |
not provided [RCV002715053] |
Chr2:96297474 [GRCh38] Chr2:96963212 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6093-15C>T |
single nucleotide variant |
not provided [RCV002959197] |
Chr2:96277000 [GRCh38] Chr2:96942738 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2421+16G>A |
single nucleotide variant |
not provided [RCV002807237] |
Chr2:96291376 [GRCh38] Chr2:96957114 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4584+4G>T |
single nucleotide variant |
not provided [RCV002791939] |
Chr2:96283809 [GRCh38] Chr2:96949547 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5234T>C (p.Ile1745Thr) |
single nucleotide variant |
not provided [RCV003011135] |
Chr2:96278898 [GRCh38] Chr2:96944636 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.209+17T>C |
single nucleotide variant |
not provided [RCV002811589] |
Chr2:96304688 [GRCh38] Chr2:96970426 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.545A>G (p.Tyr182Cys) |
single nucleotide variant |
not provided [RCV002720022] |
Chr2:96301553 [GRCh38] Chr2:96967291 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1411G>A (p.Ala471Thr) |
single nucleotide variant |
not provided [RCV003030706] |
Chr2:96297037 [GRCh38] Chr2:96962775 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1119+16G>C |
single nucleotide variant |
not provided [RCV003048168] |
Chr2:96298268 [GRCh38] Chr2:96964006 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1590C>G (p.Thr530=) |
single nucleotide variant |
not provided [RCV002835182] |
Chr2:96296617 [GRCh38] Chr2:96962355 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1842+17C>T |
single nucleotide variant |
not provided [RCV002631321] |
Chr2:96295471 [GRCh38] Chr2:96961209 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4137C>T (p.Ile1379=) |
single nucleotide variant |
not provided [RCV002631595] |
Chr2:96285207 [GRCh38] Chr2:96950945 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2121C>T (p.Ile707=) |
single nucleotide variant |
not provided [RCV002581295] |
Chr2:96293011 [GRCh38] Chr2:96958749 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2895C>G (p.Asp965Glu) |
single nucleotide variant |
not provided [RCV003030507] |
Chr2:96289844 [GRCh38] Chr2:96955582 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2976C>T (p.Tyr992=) |
single nucleotide variant |
not provided [RCV002834878] |
Chr2:96289344 [GRCh38] Chr2:96955082 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3797A>T (p.Tyr1266Phe) |
single nucleotide variant |
not provided [RCV003046816] |
Chr2:96286720 [GRCh38] Chr2:96952458 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3787C>T (p.Pro1263Ser) |
single nucleotide variant |
not provided [RCV003046817] |
Chr2:96286730 [GRCh38] Chr2:96952468 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1673G>A (p.Arg558His) |
single nucleotide variant |
Retinal dystrophy [RCV003889142]|not provided [RCV002675902] |
Chr2:96295657 [GRCh38] Chr2:96961395 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3308G>A (p.Gly1103Asp) |
single nucleotide variant |
not provided [RCV003044348] |
Chr2:96287920 [GRCh38] Chr2:96953658 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1292C>T (p.Pro431Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002959320] |
Chr2:96297448 [GRCh38] Chr2:96963186 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2599G>A (p.Gly867Ser) |
single nucleotide variant |
not provided [RCV003030810] |
Chr2:96290469 [GRCh38] Chr2:96956207 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1915A>G (p.Ile639Val) |
single nucleotide variant |
not provided [RCV003044505] |
Chr2:96293437 [GRCh38] Chr2:96959175 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3277C>G (p.Arg1093Gly) |
single nucleotide variant |
not provided [RCV002806762] |
Chr2:96287951 [GRCh38] Chr2:96953689 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4165-17C>T |
single nucleotide variant |
not provided [RCV002598185] |
Chr2:96284602 [GRCh38] Chr2:96950340 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.631-19G>A |
single nucleotide variant |
not provided [RCV002715968] |
Chr2:96299446 [GRCh38] Chr2:96965184 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.987A>G (p.Leu329=) |
single nucleotide variant |
not provided [RCV002577338] |
Chr2:96298416 [GRCh38] Chr2:96964154 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.997T>G (p.Leu333Val) |
single nucleotide variant |
not provided [RCV002833572] |
Chr2:96298406 [GRCh38] Chr2:96964144 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5984C>T (p.Ala1995Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002900917]|not provided [RCV005059343] |
Chr2:96277189 [GRCh38] Chr2:96942927 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.784G>A (p.Asp262Asn) |
single nucleotide variant |
not provided [RCV002806424] |
Chr2:96298913 [GRCh38] Chr2:96964651 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1462C>G (p.Leu488Val) |
single nucleotide variant |
not provided [RCV002600447] |
Chr2:96296986 [GRCh38] Chr2:96962724 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.631-10A>C |
single nucleotide variant |
not provided [RCV002598347] |
Chr2:96299437 [GRCh38] Chr2:96965175 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5025-14G>C |
single nucleotide variant |
not provided [RCV003026341] |
Chr2:96279573 [GRCh38] Chr2:96945311 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5145G>C (p.Lys1715Asn) |
single nucleotide variant |
not provided [RCV002791755] |
Chr2:96278987 [GRCh38] Chr2:96944725 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6051C>T (p.Ile2017=) |
single nucleotide variant |
not provided [RCV002605423] |
Chr2:96277122 [GRCh38] Chr2:96942860 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5493C>T (p.Leu1831=) |
single nucleotide variant |
not provided [RCV002943563] |
Chr2:96278354 [GRCh38] Chr2:96944092 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4890C>T (p.Arg1630=) |
single nucleotide variant |
not provided [RCV002603885] |
Chr2:96283226 [GRCh38] Chr2:96948964 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6075T>A (p.Asp2025Glu) |
single nucleotide variant |
not provided [RCV003051859] |
Chr2:96277098 [GRCh38] Chr2:96942836 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2718G>A (p.Val906=) |
single nucleotide variant |
not provided [RCV002653079] |
Chr2:96290350 [GRCh38] Chr2:96956088 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1584C>T (p.Asp528=) |
single nucleotide variant |
not provided [RCV002604073] |
Chr2:96296623 [GRCh38] Chr2:96962361 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5692C>T (p.His1898Tyr) |
single nucleotide variant |
not provided [RCV002583877] |
Chr2:96277869 [GRCh38] Chr2:96943607 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3385C>T (p.Leu1129=) |
single nucleotide variant |
not provided [RCV002634452] |
Chr2:96287538 [GRCh38] Chr2:96953276 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6093-16T>C |
single nucleotide variant |
not provided [RCV002653875] |
Chr2:96277001 [GRCh38] Chr2:96942739 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4165-18C>G |
single nucleotide variant |
not provided [RCV002680867] |
Chr2:96284603 [GRCh38] Chr2:96950341 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5754+6G>A |
single nucleotide variant |
not provided [RCV003052212] |
Chr2:96277801 [GRCh38] Chr2:96943539 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1671+18T>G |
single nucleotide variant |
not provided [RCV002609389] |
Chr2:96296518 [GRCh38] Chr2:96962256 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6387T>C (p.Ala2129=) |
single nucleotide variant |
not provided [RCV002634664] |
Chr2:96275036 [GRCh38] Chr2:96940774 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4035C>T (p.Asn1345=) |
single nucleotide variant |
not provided [RCV002582495] |
Chr2:96285309 [GRCh38] Chr2:96951047 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5500A>G (p.Met1834Val) |
single nucleotide variant |
not provided [RCV002677013] |
Chr2:96278347 [GRCh38] Chr2:96944085 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5075A>G (p.Asn1692Ser) |
single nucleotide variant |
not provided [RCV002587742] |
Chr2:96279509 [GRCh38] Chr2:96945247 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5134-20_5134-18del |
deletion |
not provided [RCV002609658] |
Chr2:96279016..96279018 [GRCh38] Chr2:96944754..96944756 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1168G>A (p.Asp390Asn) |
single nucleotide variant |
not provided [RCV002609732] |
Chr2:96297672 [GRCh38] Chr2:96963410 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2883C>T (p.Ala961=) |
single nucleotide variant |
not provided [RCV002721752] |
Chr2:96289856 [GRCh38] Chr2:96955594 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6092+14G>T |
single nucleotide variant |
not provided [RCV002604035] |
Chr2:96277067 [GRCh38] Chr2:96942805 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3484+19C>T |
single nucleotide variant |
not provided [RCV002586190] |
Chr2:96287420 [GRCh38] Chr2:96953158 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1672C>T (p.Arg558Cys) |
single nucleotide variant |
not provided [RCV002584605] |
Chr2:96295658 [GRCh38] Chr2:96961396 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3752T>G (p.Leu1251Arg) |
single nucleotide variant |
not provided [RCV003068042] |
Chr2:96286765 [GRCh38] Chr2:96952503 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.209+16A>T |
single nucleotide variant |
not provided [RCV002582937] |
Chr2:96304689 [GRCh38] Chr2:96970427 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2742+20T>G |
single nucleotide variant |
not provided [RCV002654132] |
Chr2:96290306 [GRCh38] Chr2:96956044 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3174+15T>C |
single nucleotide variant |
not provided [RCV002613072] |
Chr2:96289022 [GRCh38] Chr2:96954760 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4835C>T (p.Thr1612Met) |
single nucleotide variant |
not provided [RCV002587154] |
Chr2:96283281 [GRCh38] Chr2:96949019 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.6292G>A (p.Ala2098Thr) |
single nucleotide variant |
not provided [RCV002584255] |
Chr2:96275131 [GRCh38] Chr2:96940869 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4072A>G (p.Ile1358Val) |
single nucleotide variant |
Retinal dystrophy [RCV003889125]|not provided [RCV002587465] |
Chr2:96285272 [GRCh38] Chr2:96951010 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_014014.5(SNRNP200):c.4763+5G>A |
single nucleotide variant |
not provided [RCV003050848] |
Chr2:96283530 [GRCh38] Chr2:96949268 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.758C>G (p.Ser253Cys) |
single nucleotide variant |
not provided [RCV002725972] |
Chr2:96298939 [GRCh38] Chr2:96964677 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.461G>A (p.Arg154Gln) |
single nucleotide variant |
not provided [RCV002612684] |
Chr2:96301637 [GRCh38] Chr2:96967375 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3341T>C (p.Leu1114Pro) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV004788324] |
Chr2:96287887 [GRCh38] Chr2:96953625 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4730T>G (p.Leu1577Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003200528] |
Chr2:96283568 [GRCh38] Chr2:96949306 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.709C>T (p.Arg237Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003287039]|Retinal dystrophy [RCV003889290] |
Chr2:96299349 [GRCh38] Chr2:96965087 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.995C>G (p.Thr332Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003220461] |
Chr2:96298408 [GRCh38] Chr2:96964146 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV003138552] |
Chr2:96287906 [GRCh38] Chr2:96953644 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His) |
single nucleotide variant |
Inborn genetic diseases [RCV003269550]|Retinal dystrophy [RCV004818291]|Retinitis pigmentosa 33 [RCV003138553]|not provided [RCV003778790] |
Chr2:96277552 [GRCh38] Chr2:96943290 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys) |
single nucleotide variant |
Retinal dystrophy [RCV004818320]|Retinitis pigmentosa [RCV003324678] |
Chr2:96287469 [GRCh38] Chr2:96953207 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1348C>G (p.Leu450Val) |
single nucleotide variant |
not provided [RCV003327039] |
Chr2:96297392 [GRCh38] Chr2:96963130 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2966G>A (p.Ser989Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003357819] |
Chr2:96289354 [GRCh38] Chr2:96955092 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3941A>G (p.Asn1314Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003368818]|not provided [RCV003720859] |
Chr2:96286373 [GRCh38] Chr2:96952111 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1595A>G (p.Asn532Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003354423]|not provided [RCV003777544] |
Chr2:96296612 [GRCh38] Chr2:96962350 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3154A>C (p.Ile1052Leu) |
single nucleotide variant |
not provided [RCV003569316] |
Chr2:96289057 [GRCh38] Chr2:96954795 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3 |
copy number gain |
not provided [RCV003484070] |
Chr2:96732520..97671333 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1524G>A (p.Gly508=) |
single nucleotide variant |
not provided [RCV003569955] |
Chr2:96296683 [GRCh38] Chr2:96962421 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3072C>T (p.Phe1024=) |
single nucleotide variant |
not provided [RCV003570860] |
Chr2:96289248 [GRCh38] Chr2:96954986 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.485G>A (p.Gly162Asp) |
single nucleotide variant |
not provided [RCV003686258] |
Chr2:96301613 [GRCh38] Chr2:96967351 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1660A>C (p.Ser554Arg) |
single nucleotide variant |
Retinal dystrophy [RCV004818362]|not provided [RCV003543107] |
Chr2:96296547 [GRCh38] Chr2:96962285 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3 |
copy number gain |
not provided [RCV003484071] |
Chr2:96732520..99142320 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 |
copy number gain |
not provided [RCV003484069] |
Chr2:95773428..102550061 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.4392+7C>T |
single nucleotide variant |
not provided [RCV003457298] |
Chr2:96284351 [GRCh38] Chr2:96950089 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3592C>T (p.Leu1198=) |
single nucleotide variant |
not provided [RCV003427136] |
Chr2:96287053 [GRCh38] Chr2:96952791 [GRCh37] Chr2:2q11.2 |
likely benign |
Single allele |
deletion |
not provided [RCV003448678] |
Chr2:96555654..97769352 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5393A>T (p.Gln1798Leu) |
single nucleotide variant |
not provided [RCV003825663] |
Chr2:96278642 [GRCh38] Chr2:96944380 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3594G>C (p.Leu1198=) |
single nucleotide variant |
not provided [RCV003427135] |
Chr2:96287051 [GRCh38] Chr2:96952789 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.513G>A (p.Val171=) |
single nucleotide variant |
not provided [RCV003427137] |
Chr2:96301585 [GRCh38] Chr2:96967323 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5328C>T (p.Ile1776=) |
single nucleotide variant |
not provided [RCV003577209] |
Chr2:96278707 [GRCh38] Chr2:96944445 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4392+15T>A |
single nucleotide variant |
not provided [RCV003696685] |
Chr2:96284343 [GRCh38] Chr2:96950081 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4165-7C>T |
single nucleotide variant |
not provided [RCV003712642] |
Chr2:96284592 [GRCh38] Chr2:96950330 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3392A>G (p.Gln1131Arg) |
single nucleotide variant |
not provided [RCV003714125] |
Chr2:96287531 [GRCh38] Chr2:96953269 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5755-9C>A |
single nucleotide variant |
not provided [RCV003576529] |
Chr2:96277724 [GRCh38] Chr2:96943462 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2094C>G (p.Ile698Met) |
single nucleotide variant |
not provided [RCV003661165] |
Chr2:96293038 [GRCh38] Chr2:96958776 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3397C>T (p.Arg1133Trp) |
single nucleotide variant |
not provided [RCV003830989] |
Chr2:96287526 [GRCh38] Chr2:96953264 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2554-16G>T |
single nucleotide variant |
not provided [RCV003662562] |
Chr2:96290530 [GRCh38] Chr2:96956268 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2961A>G (p.Ile987Met) |
single nucleotide variant |
not provided [RCV003695479] |
Chr2:96289359 [GRCh38] Chr2:96955097 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3175A>G (p.Ile1059Val) |
single nucleotide variant |
not provided [RCV003575216] |
Chr2:96288746 [GRCh38] Chr2:96954484 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3762C>T (p.Phe1254=) |
single nucleotide variant |
not provided [RCV003828877] |
Chr2:96286755 [GRCh38] Chr2:96952493 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1469G>A (p.Arg490His) |
single nucleotide variant |
not provided [RCV003877829] |
Chr2:96296979 [GRCh38] Chr2:96962717 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4763+17G>T |
single nucleotide variant |
not provided [RCV003661426] |
Chr2:96283518 [GRCh38] Chr2:96949256 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2569_2570inv (p.Gly857Pro) |
inversion |
not provided [RCV003689138] |
Chr2:96290498..96290499 [GRCh38] Chr2:96956236..96956237 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.645C>T (p.Asp215=) |
single nucleotide variant |
not provided [RCV003879210] |
Chr2:96299413 [GRCh38] Chr2:96965151 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2729T>C (p.Val910Ala) |
single nucleotide variant |
not provided [RCV003691275] |
Chr2:96290339 [GRCh38] Chr2:96956077 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3258+16T>C |
single nucleotide variant |
not provided [RCV003544464] |
Chr2:96288647 [GRCh38] Chr2:96954385 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1217G>A (p.Arg406Gln) |
single nucleotide variant |
not provided [RCV003713382] |
Chr2:96297523 [GRCh38] Chr2:96963261 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2742+2T>C |
single nucleotide variant |
not provided [RCV003662874] |
Chr2:96290324 [GRCh38] Chr2:96956062 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2828T>C (p.Leu943Pro) |
single nucleotide variant |
not provided [RCV003544046] |
Chr2:96289911 [GRCh38] Chr2:96955649 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3001T>C (p.Tyr1001His) |
single nucleotide variant |
not provided [RCV003714184] |
Chr2:96289319 [GRCh38] Chr2:96955057 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.631-7T>G |
single nucleotide variant |
not provided [RCV003715544] |
Chr2:96299434 [GRCh38] Chr2:96965172 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2992G>C (p.Val998Leu) |
single nucleotide variant |
not provided [RCV003659725] |
Chr2:96289328 [GRCh38] Chr2:96955066 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3174G>A (p.Lys1058=) |
single nucleotide variant |
not provided [RCV003573261] |
Chr2:96289037 [GRCh38] Chr2:96954775 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1119+9T>C |
single nucleotide variant |
not provided [RCV003827322] |
Chr2:96298275 [GRCh38] Chr2:96964013 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4551T>C (p.Asn1517=) |
single nucleotide variant |
not provided [RCV003878091] |
Chr2:96283846 [GRCh38] Chr2:96949584 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.949T>A (p.Phe317Ile) |
single nucleotide variant |
not provided [RCV003713395] |
Chr2:96298636 [GRCh38] Chr2:96964374 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5422A>T (p.Met1808Leu) |
single nucleotide variant |
not provided [RCV003830020] |
Chr2:96278613 [GRCh38] Chr2:96944351 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3378G>T (p.Met1126Ile) |
single nucleotide variant |
not provided [RCV003714550] |
Chr2:96287545 [GRCh38] Chr2:96953283 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4584+13C>A |
single nucleotide variant |
not provided [RCV003662147] |
Chr2:96283800 [GRCh38] Chr2:96949538 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4728C>A (p.Ile1576=) |
single nucleotide variant |
not provided [RCV003716497] |
Chr2:96283570 [GRCh38] Chr2:96949308 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5437C>T (p.Leu1813=) |
single nucleotide variant |
not provided [RCV003663286] |
Chr2:96278598 [GRCh38] Chr2:96944336 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1377+20C>T |
single nucleotide variant |
not provided [RCV003660022] |
Chr2:96297343 [GRCh38] Chr2:96963081 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4162C>A (p.Gln1388Lys) |
single nucleotide variant |
not provided [RCV003713068] |
Chr2:96285182 [GRCh38] Chr2:96950920 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.358A>T (p.Ile120Phe) |
single nucleotide variant |
not provided [RCV003878181] |
Chr2:96303182 [GRCh38] Chr2:96968920 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.697G>A (p.Glu233Lys) |
single nucleotide variant |
not provided [RCV003660534] |
Chr2:96299361 [GRCh38] Chr2:96965099 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2310+15G>C |
single nucleotide variant |
not provided [RCV003713337] |
Chr2:96291736 [GRCh38] Chr2:96957474 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2004C>G (p.Asp668Glu) |
single nucleotide variant |
not provided [RCV003661935] |
Chr2:96293348 [GRCh38] Chr2:96959086 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3579C>T (p.Ile1193=) |
single nucleotide variant |
not provided [RCV003573164] |
Chr2:96287066 [GRCh38] Chr2:96952804 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2124C>G (p.Val708=) |
single nucleotide variant |
not provided [RCV003546068] |
Chr2:96293008 [GRCh38] Chr2:96958746 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5454C>T (p.Ile1818=) |
single nucleotide variant |
not provided [RCV003878090] |
Chr2:96278581 [GRCh38] Chr2:96944319 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.210-7C>T |
single nucleotide variant |
not provided [RCV003716693] |
Chr2:96303337 [GRCh38] Chr2:96969075 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3484+18G>A |
single nucleotide variant |
not provided [RCV003712990] |
Chr2:96287421 [GRCh38] Chr2:96953159 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4700A>G (p.Lys1567Arg) |
single nucleotide variant |
not provided [RCV003573603] |
Chr2:96283598 [GRCh38] Chr2:96949336 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.903A>G (p.Glu301=) |
single nucleotide variant |
not provided [RCV003664439] |
Chr2:96298682 [GRCh38] Chr2:96964420 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.730-20A>G |
single nucleotide variant |
not provided [RCV005170106] |
Chr2:96298987 [GRCh38] Chr2:96964725 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4164+11G>C |
single nucleotide variant |
not provided [RCV003699883] |
Chr2:96285169 [GRCh38] Chr2:96950907 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5024+15T>G |
single nucleotide variant |
not provided [RCV003697972] |
Chr2:96281799 [GRCh38] Chr2:96947537 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1734A>C (p.Glu578Asp) |
single nucleotide variant |
not provided [RCV003832358] |
Chr2:96295596 [GRCh38] Chr2:96961334 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.574+5G>C |
single nucleotide variant |
not provided [RCV003666761] |
Chr2:96301519 [GRCh38] Chr2:96967257 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2743-8T>A |
single nucleotide variant |
not provided [RCV003668083] |
Chr2:96290004 [GRCh38] Chr2:96955742 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4651A>G (p.Thr1551Ala) |
single nucleotide variant |
not provided [RCV003580141] |
Chr2:96283647 [GRCh38] Chr2:96949385 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1203+10A>G |
single nucleotide variant |
not provided [RCV003855867] |
Chr2:96297627 [GRCh38] Chr2:96963365 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1758C>T (p.Ile586=) |
single nucleotide variant |
not provided [RCV003667223] |
Chr2:96295572 [GRCh38] Chr2:96961310 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5133+16A>T |
single nucleotide variant |
not provided [RCV003723691] |
Chr2:96279435 [GRCh38] Chr2:96945173 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3270G>A (p.Arg1090=) |
single nucleotide variant |
not provided [RCV003665882] |
Chr2:96287958 [GRCh38] Chr2:96953696 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4801C>T (p.Leu1601=) |
single nucleotide variant |
not provided [RCV003855024] |
Chr2:96283315 [GRCh38] Chr2:96949053 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3258+8C>T |
single nucleotide variant |
not provided [RCV003839368] |
Chr2:96288655 [GRCh38] Chr2:96954393 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3904T>C (p.Leu1302=) |
single nucleotide variant |
not provided [RCV003665223] |
Chr2:96286410 [GRCh38] Chr2:96952148 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1423T>G (p.Phe475Val) |
single nucleotide variant |
not provided [RCV003673943] |
Chr2:96297025 [GRCh38] Chr2:96962763 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5355G>A (p.Leu1785=) |
single nucleotide variant |
not provided [RCV003671689] |
Chr2:96278680 [GRCh38] Chr2:96944418 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3621_3626del (p.Asp1207_Gln1209delinsGlu) |
deletion |
not provided [RCV003700844] |
Chr2:96287019..96287024 [GRCh38] Chr2:96952757..96952762 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5001G>A (p.Gln1667=) |
single nucleotide variant |
Retinal dystrophy [RCV004818392]|not provided [RCV003668916] |
Chr2:96281837 [GRCh38] Chr2:96947575 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_014014.5(SNRNP200):c.5488+20G>A |
single nucleotide variant |
not provided [RCV003835268] |
Chr2:96278527 [GRCh38] Chr2:96944265 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.795A>G (p.Ala265=) |
single nucleotide variant |
not provided [RCV003834708] |
Chr2:96298902 [GRCh38] Chr2:96964640 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1843-16_1843-15insGTAGGCACTAGCCTTTGTAATGACTA |
insertion |
not provided [RCV003701328] |
Chr2:96293524..96293525 [GRCh38] Chr2:96959262..96959263 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4584+15C>A |
single nucleotide variant |
not provided [RCV003669750] |
Chr2:96283798 [GRCh38] Chr2:96949536 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6168C>T (p.Phe2056=) |
single nucleotide variant |
not provided [RCV003855307] |
Chr2:96276910 [GRCh38] Chr2:96942648 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5024+7A>G |
single nucleotide variant |
not provided [RCV003716751] |
Chr2:96281807 [GRCh38] Chr2:96947545 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3365+19G>T |
single nucleotide variant |
not provided [RCV003667155] |
Chr2:96287844 [GRCh38] Chr2:96953582 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5551A>C (p.Asn1851His) |
single nucleotide variant |
not provided [RCV003855469] |
Chr2:96278296 [GRCh38] Chr2:96944034 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6268-8C>T |
single nucleotide variant |
not provided [RCV003698178] |
Chr2:96275163 [GRCh38] Chr2:96940901 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1184A>G (p.Asp395Gly) |
single nucleotide variant |
not provided [RCV003671172] |
Chr2:96297656 [GRCh38] Chr2:96963394 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3656A>T (p.Glu1219Val) |
single nucleotide variant |
not provided [RCV003832210] |
Chr2:96286861 [GRCh38] Chr2:96952599 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2223G>A (p.Met741Ile) |
single nucleotide variant |
not provided [RCV003676015] |
Chr2:96291838 [GRCh38] Chr2:96957576 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2161-4T>G |
single nucleotide variant |
not provided [RCV003566896] |
Chr2:96291904 [GRCh38] Chr2:96957642 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1378-18G>A |
single nucleotide variant |
not provided [RCV003848385] |
Chr2:96297088 [GRCh38] Chr2:96962826 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5691T>A (p.Ala1897=) |
single nucleotide variant |
not provided [RCV003562353] |
Chr2:96277870 [GRCh38] Chr2:96943608 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2882C>T (p.Ala961Val) |
single nucleotide variant |
not provided [RCV003821022] |
Chr2:96289857 [GRCh38] Chr2:96955595 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6175-2A>G |
single nucleotide variant |
not provided [RCV003550687] |
Chr2:96275351 [GRCh38] Chr2:96941089 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2743-16G>T |
single nucleotide variant |
not provided [RCV003704263] |
Chr2:96290012 [GRCh38] Chr2:96955750 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2292A>G (p.Thr764=) |
single nucleotide variant |
not provided [RCV003707558] |
Chr2:96291769 [GRCh38] Chr2:96957507 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2748G>T (p.Ala916=) |
single nucleotide variant |
not provided [RCV003565324] |
Chr2:96289991 [GRCh38] Chr2:96955729 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4851G>A (p.Val1617=) |
single nucleotide variant |
not provided [RCV003564720] |
Chr2:96283265 [GRCh38] Chr2:96949003 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6093-19C>T |
single nucleotide variant |
not provided [RCV003676439] |
Chr2:96277004 [GRCh38] Chr2:96942742 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5489-19C>T |
single nucleotide variant |
not provided [RCV003680325] |
Chr2:96278377 [GRCh38] Chr2:96944115 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4585-20T>G |
single nucleotide variant |
not provided [RCV003823905] |
Chr2:96283733 [GRCh38] Chr2:96949471 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1532A>G (p.Asn511Ser) |
single nucleotide variant |
not provided [RCV003678897] |
Chr2:96296675 [GRCh38] Chr2:96962413 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2579A>G (p.Gln860Arg) |
single nucleotide variant |
not provided [RCV003711702] |
Chr2:96290489 [GRCh38] Chr2:96956227 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.601G>A (p.Val201Met) |
single nucleotide variant |
not provided [RCV003682884] |
Chr2:96301027 [GRCh38] Chr2:96966765 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4257G>A (p.Leu1419=) |
single nucleotide variant |
not provided [RCV003708857] |
Chr2:96284493 [GRCh38] Chr2:96950231 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.386G>A (p.Arg129His) |
single nucleotide variant |
not provided [RCV003844999] |
Chr2:96301712 [GRCh38] Chr2:96967450 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1376_1377+1del |
microsatellite |
not provided [RCV003720998] |
Chr2:96297362..96297364 [GRCh38] Chr2:96963100..96963102 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2941-8C>A |
single nucleotide variant |
not provided [RCV003869578] |
Chr2:96289387 [GRCh38] Chr2:96955125 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4421T>A (p.Met1474Lys) |
single nucleotide variant |
not provided [RCV003865836] |
Chr2:96283976 [GRCh38] Chr2:96949714 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2743-8_2743-7delinsAA |
indel |
not provided [RCV003871368] |
Chr2:96290003..96290004 [GRCh38] Chr2:96955741..96955742 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.945T>A (p.Phe315Leu) |
single nucleotide variant |
not provided [RCV003566809] |
Chr2:96298640 [GRCh38] Chr2:96964378 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1040T>G (p.Met347Arg) |
single nucleotide variant |
not provided [RCV003704246] |
Chr2:96298363 [GRCh38] Chr2:96964101 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.841G>C (p.Val281Leu) |
single nucleotide variant |
not provided [RCV003567049] |
Chr2:96298856 [GRCh38] Chr2:96964594 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2554-17C>T |
single nucleotide variant |
not provided [RCV003823246] |
Chr2:96290531 [GRCh38] Chr2:96956269 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4221C>G (p.Leu1407=) |
single nucleotide variant |
not provided [RCV003677748] |
Chr2:96284529 [GRCh38] Chr2:96950267 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6274T>C (p.Leu2092=) |
single nucleotide variant |
not provided [RCV003684498] |
Chr2:96275149 [GRCh38] Chr2:96940887 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5151C>T (p.Phe1717=) |
single nucleotide variant |
not provided [RCV003683533] |
Chr2:96278981 [GRCh38] Chr2:96944719 [GRCh37] Chr2:2q11.2 |
likely benign |
GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3 |
copy number gain |
not specified [RCV003986352] |
Chr2:96735977..98212850 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2365A>G (p.Met789Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004963750]|not provided [RCV003685367] |
Chr2:96291448 [GRCh38] Chr2:96957186 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1460A>G (p.Lys487Arg) |
single nucleotide variant |
not provided [RCV003684878] |
Chr2:96296988 [GRCh38] Chr2:96962726 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2310+11G>C |
single nucleotide variant |
not provided [RCV003721197] |
Chr2:96291740 [GRCh38] Chr2:96957478 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2625G>A (p.Glu875=) |
single nucleotide variant |
not provided [RCV003869878] |
Chr2:96290443 [GRCh38] Chr2:96956181 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5754+4G>A |
single nucleotide variant |
not provided [RCV003737471] |
Chr2:96277803 [GRCh38] Chr2:96943541 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4581C>A (p.Ile1527=) |
single nucleotide variant |
not provided [RCV003552666] |
Chr2:96283816 [GRCh38] Chr2:96949554 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5545A>G (p.Ile1849Val) |
single nucleotide variant |
not provided [RCV003683621] |
Chr2:96278302 [GRCh38] Chr2:96944040 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1989C>T (p.Thr663=) |
single nucleotide variant |
not provided [RCV003542211] |
Chr2:96293363 [GRCh38] Chr2:96959101 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6104T>C (p.Val2035Ala) |
single nucleotide variant |
not provided [RCV003552467] |
Chr2:96276974 [GRCh38] Chr2:96942712 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5226C>G (p.Thr1742=) |
single nucleotide variant |
not provided [RCV003562382] |
Chr2:96278906 [GRCh38] Chr2:96944644 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.66A>G (p.Gln22=) |
single nucleotide variant |
not provided [RCV003676061] |
Chr2:96304848 [GRCh38] Chr2:96970586 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.30A>G (p.Gln10=) |
single nucleotide variant |
not provided [RCV003819781] |
Chr2:96305408 [GRCh38] Chr2:96971146 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5181C>T (p.His1727=) |
single nucleotide variant |
not provided [RCV003677192] |
Chr2:96278951 [GRCh38] Chr2:96944689 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6093-12C>T |
single nucleotide variant |
not provided [RCV003818588] |
Chr2:96276997 [GRCh38] Chr2:96942735 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2257A>C (p.Arg753=) |
single nucleotide variant |
not provided [RCV003706520] |
Chr2:96291804 [GRCh38] Chr2:96957542 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5559A>G (p.Ala1853=) |
single nucleotide variant |
not provided [RCV003864527] |
Chr2:96278288 [GRCh38] Chr2:96944026 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3627G>A (p.Gln1209=) |
single nucleotide variant |
not provided [RCV003705300] |
Chr2:96287018 [GRCh38] Chr2:96952756 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2244G>C (p.Leu748=) |
single nucleotide variant |
not provided [RCV003709588] |
Chr2:96291817 [GRCh38] Chr2:96957555 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1842+12G>A |
single nucleotide variant |
not provided [RCV003674918] |
Chr2:96295476 [GRCh38] Chr2:96961214 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.473A>G (p.Asp158Gly) |
single nucleotide variant |
not provided [RCV003676106] |
Chr2:96301625 [GRCh38] Chr2:96967363 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4916-15C>T |
single nucleotide variant |
not provided [RCV003554931] |
Chr2:96281937 [GRCh38] Chr2:96947675 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.381+7G>T |
single nucleotide variant |
not provided [RCV003683284] |
Chr2:96303152 [GRCh38] Chr2:96968890 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3136A>G (p.Ile1046Val) |
single nucleotide variant |
not provided [RCV003706964] |
Chr2:96289075 [GRCh38] Chr2:96954813 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1157G>A (p.Arg386Gln) |
single nucleotide variant |
not provided [RCV003846976] |
Chr2:96297683 [GRCh38] Chr2:96963421 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4157C>T (p.Ala1386Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890720] |
Chr2:96285187 [GRCh38] Chr2:96950925 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.294G>A (p.Val98=) |
single nucleotide variant |
Retinal dystrophy [RCV003890734] |
Chr2:96303246 [GRCh38] Chr2:96968984 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.702T>A (p.Ala234=) |
single nucleotide variant |
not provided [RCV003993409] |
Chr2:96299356 [GRCh38] Chr2:96965094 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5096del (p.Glu1699fs) |
deletion |
Retinal dystrophy [RCV003890718] |
Chr2:96279488 [GRCh38] Chr2:96945226 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.2277A>G (p.Thr759=) |
single nucleotide variant |
Retinal dystrophy [RCV003890725] |
Chr2:96291784 [GRCh38] Chr2:96957522 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.1703A>G (p.Glu568Gly) |
single nucleotide variant |
Retinal dystrophy [RCV003890729] |
Chr2:96295627 [GRCh38] Chr2:96961365 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1376A>T (p.Glu459Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890730] |
Chr2:96297364 [GRCh38] Chr2:96963102 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.728A>G (p.Asn243Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003890733] |
Chr2:96299330 [GRCh38] Chr2:96965068 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5933G>T (p.Gly1978Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890715] |
Chr2:96277240 [GRCh38] Chr2:96942978 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.5288G>A (p.Arg1763His) |
single nucleotide variant |
Retinal dystrophy [RCV003890716] |
Chr2:96278844 [GRCh38] Chr2:96944582 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4487A>G (p.Asn1496Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003890719]|not provided [RCV005063216] |
Chr2:96283910 [GRCh38] Chr2:96949648 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2800A>C (p.Thr934Pro) |
single nucleotide variant |
Retinal dystrophy [RCV003890721] |
Chr2:96289939 [GRCh38] Chr2:96955677 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.6216G>A (p.Lys2072=) |
single nucleotide variant |
Retinal dystrophy [RCV003890714] |
Chr2:96275308 [GRCh38] Chr2:96941046 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.2262G>A (p.Glu754=) |
single nucleotide variant |
Retinal dystrophy [RCV003890726] |
Chr2:96291799 [GRCh38] Chr2:96957537 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1249dup (p.Thr417fs) |
duplication |
Retinal dystrophy [RCV003890731] |
Chr2:96297490..96297491 [GRCh38] Chr2:96963228..96963229 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_014014.5(SNRNP200):c.5205C>T (p.His1735=) |
single nucleotide variant |
Retinal dystrophy [RCV003890717] |
Chr2:96278927 [GRCh38] Chr2:96944665 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3331A>C (p.Thr1111Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004462387] |
Chr2:96287897 [GRCh38] Chr2:96953635 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3610A>G (p.Ile1204Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004462388] |
Chr2:96287035 [GRCh38] Chr2:96952773 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5197C>T (p.His1733Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004462393] |
Chr2:96278935 [GRCh38] Chr2:96944673 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4276A>C (p.Ile1426Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004462389] |
Chr2:96284474 [GRCh38] Chr2:96950212 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4324C>T (p.Arg1442Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004462390] |
Chr2:96284426 [GRCh38] Chr2:96950164 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4625T>C (p.Met1542Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004462391] |
Chr2:96283673 [GRCh38] Chr2:96949411 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1 |
copy number loss |
not provided [RCV003885488] |
Chr2:96780545..98098961 [GRCh37] Chr2:2q11.1-11.2 |
pathogenic |
NM_014014.5(SNRNP200):c.2769C>G (p.Ala923=) |
single nucleotide variant |
Retinal dystrophy [RCV003890723] |
Chr2:96289970 [GRCh38] Chr2:96955708 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1981G>A (p.Val661Ile) |
single nucleotide variant |
Retinal dystrophy [RCV003890728] |
Chr2:96293371 [GRCh38] Chr2:96959109 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.2443C>G (p.Leu815Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890724] |
Chr2:96290794 [GRCh38] Chr2:96956532 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1128G>A (p.Arg376=) |
single nucleotide variant |
Retinal dystrophy [RCV003890732] |
Chr2:96297712 [GRCh38] Chr2:96963450 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3596A>G (p.Lys1199Arg) |
single nucleotide variant |
not provided [RCV004585470] |
Chr2:96287049 [GRCh38] Chr2:96952787 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1 |
copy number loss |
not provided [RCV004577457] |
Chr2:96555654..98024790 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5428G>A (p.Val1810Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004670329] |
Chr2:96278607 [GRCh38] Chr2:96944345 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1236G>C (p.Glu412Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004679109] |
Chr2:96297504 [GRCh38] Chr2:96963242 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2534G>A (p.Gly845Glu) |
single nucleotide variant |
Retinitis pigmentosa 33 [RCV004797358] |
Chr2:96290703 [GRCh38] Chr2:96956441 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2037-11T>C |
single nucleotide variant |
Retinal dystrophy [RCV004816153] |
Chr2:96293106 [GRCh38] Chr2:96958844 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3097G>A (p.Glu1033Lys) |
single nucleotide variant |
not provided [RCV004769232] |
Chr2:96289114 [GRCh38] Chr2:96954852 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1864G>A (p.Asp622Asn) |
single nucleotide variant |
not provided [RCV004769562] |
Chr2:96293488 [GRCh38] Chr2:96959226 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2762G>A (p.Gly921Asp) |
single nucleotide variant |
not provided [RCV004771115] |
Chr2:96289977 [GRCh38] Chr2:96955715 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1041G>A (p.Met347Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004963891] |
Chr2:96298362 [GRCh38] Chr2:96964100 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1690A>G (p.Ile564Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004963887] |
Chr2:96295640 [GRCh38] Chr2:96961378 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4109A>T (p.Gln1370Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004963888] |
Chr2:96285235 [GRCh38] Chr2:96950973 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1759G>A (p.Val587Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004963889] |
Chr2:96295571 [GRCh38] Chr2:96961309 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5676C>A (p.Asn1892Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004963890] |
Chr2:96277885 [GRCh38] Chr2:96943623 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5480C>A (p.Thr1827Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004963895] |
Chr2:96278555 [GRCh38] Chr2:96944293 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5474A>T (p.Asn1825Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004963893] |
Chr2:96278561 [GRCh38] Chr2:96944299 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3886C>A (p.Pro1296Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004963892] |
Chr2:96286428 [GRCh38] Chr2:96952166 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4169A>T (p.Tyr1390Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004963894]|not provided [RCV005061584] |
Chr2:96284581 [GRCh38] Chr2:96950319 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2530_2531delinsGG (p.Leu844Gly) |
indel |
not provided [RCV004823736] |
Chr2:96290706..96290707 [GRCh38] Chr2:96956444..96956445 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3669T>A (p.Ile1223=) |
single nucleotide variant |
not provided [RCV005172815] |
Chr2:96286848 [GRCh38] Chr2:96952586 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.882+12A>G |
single nucleotide variant |
not provided [RCV005196649] |
Chr2:96298803 [GRCh38] Chr2:96964541 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3943A>G (p.Ser1315Gly) |
single nucleotide variant |
not provided [RCV005065643] |
Chr2:96286371 [GRCh38] Chr2:96952109 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.580A>C (p.Asn194His) |
single nucleotide variant |
not provided [RCV005068168] |
Chr2:96301048 [GRCh38] Chr2:96966786 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6360C>T (p.Tyr2120=) |
single nucleotide variant |
not provided [RCV005088151] |
Chr2:96275063 [GRCh38] Chr2:96940801 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.678T>C (p.Asp226=) |
single nucleotide variant |
not provided [RCV005067201] |
Chr2:96299380 [GRCh38] Chr2:96965118 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1672-15G>A |
single nucleotide variant |
not provided [RCV005067226] |
Chr2:96295673 [GRCh38] Chr2:96961411 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3889C>T (p.Pro1297Ser) |
single nucleotide variant |
not provided [RCV005066648] |
Chr2:96286425 [GRCh38] Chr2:96952163 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2168T>C (p.Val723Ala) |
single nucleotide variant |
not provided [RCV005147654] |
Chr2:96291893 [GRCh38] Chr2:96957631 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.575-16T>C |
single nucleotide variant |
not provided [RCV005087433] |
Chr2:96301069 [GRCh38] Chr2:96966807 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4648A>G (p.Ile1550Val) |
single nucleotide variant |
not provided [RCV005106756] |
Chr2:96283650 [GRCh38] Chr2:96949388 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5024+17C>T |
single nucleotide variant |
not provided [RCV005170989] |
Chr2:96281797 [GRCh38] Chr2:96947535 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1842+18G>A |
single nucleotide variant |
not provided [RCV005065470] |
Chr2:96295470 [GRCh38] Chr2:96961208 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4965C>T (p.Asn1655=) |
single nucleotide variant |
not provided [RCV005064596] |
Chr2:96281873 [GRCh38] Chr2:96947611 [GRCh37] Chr2:2q11.2 |
benign |
NM_014014.5(SNRNP200):c.4611C>T (p.Thr1537=) |
single nucleotide variant |
not provided [RCV005172498] |
Chr2:96283687 [GRCh38] Chr2:96949425 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2310+14A>G |
single nucleotide variant |
not provided [RCV005146081] |
Chr2:96291737 [GRCh38] Chr2:96957475 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3640-14dup |
duplication |
not provided [RCV005060473] |
Chr2:96286890..96286891 [GRCh38] Chr2:96952628..96952629 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4903C>A (p.Leu1635Ile) |
single nucleotide variant |
not provided [RCV005105808] |
Chr2:96283213 [GRCh38] Chr2:96948951 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4800C>T (p.Tyr1600=) |
single nucleotide variant |
not provided [RCV005060342] |
Chr2:96283316 [GRCh38] Chr2:96949054 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.9T>C (p.Asp3=) |
single nucleotide variant |
not provided [RCV005066696] |
Chr2:96305429 [GRCh38] Chr2:96971167 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3366-7T>C |
single nucleotide variant |
not provided [RCV005146029] |
Chr2:96287564 [GRCh38] Chr2:96953302 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.623A>G (p.Asp208Gly) |
single nucleotide variant |
not provided [RCV005131401] |
Chr2:96301005 [GRCh38] Chr2:96966743 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1843-17_1843-16insGCCTTTTCTGTAGGCACTAGCCTTTGTAATGACTA |
insertion |
not provided [RCV005129574] |
Chr2:96293525..96293526 [GRCh38] Chr2:96959263..96959264 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5932-20C>T |
single nucleotide variant |
not provided [RCV005074897] |
Chr2:96277261 [GRCh38] Chr2:96942999 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5133+3C>T |
single nucleotide variant |
not provided [RCV005160969] |
Chr2:96279448 [GRCh38] Chr2:96945186 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4826T>C (p.Leu1609Pro) |
single nucleotide variant |
not provided [RCV005198105] |
Chr2:96283290 [GRCh38] Chr2:96949028 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1229A>T (p.Asp410Val) |
single nucleotide variant |
not provided [RCV005069466] |
Chr2:96297511 [GRCh38] Chr2:96963249 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.6092+15G>A |
single nucleotide variant |
not provided [RCV005156255] |
Chr2:96277066 [GRCh38] Chr2:96942804 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1119+16G>A |
single nucleotide variant |
not provided [RCV005069702] |
Chr2:96298268 [GRCh38] Chr2:96964006 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6231C>T (p.Ile2077=) |
single nucleotide variant |
not provided [RCV005073346] |
Chr2:96275293 [GRCh38] Chr2:96941031 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.445C>T (p.Arg149Trp) |
single nucleotide variant |
not provided [RCV005158736] |
Chr2:96301653 [GRCh38] Chr2:96967391 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4085T>C (p.Phe1362Ser) |
single nucleotide variant |
not provided [RCV005134617] |
Chr2:96285259 [GRCh38] Chr2:96950997 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4393-10_4393-7del |
deletion |
not provided [RCV005119798] |
Chr2:96284011..96284014 [GRCh38] Chr2:96949749..96949752 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2000T>C (p.Val667Ala) |
single nucleotide variant |
not provided [RCV005198113] |
Chr2:96293352 [GRCh38] Chr2:96959090 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.385C>T (p.Arg129Cys) |
single nucleotide variant |
not provided [RCV005120268] |
Chr2:96301713 [GRCh38] Chr2:96967451 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3094-7G>A |
single nucleotide variant |
not provided [RCV005163174] |
Chr2:96289124 [GRCh38] Chr2:96954862 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4145T>C (p.Met1382Thr) |
single nucleotide variant |
not provided [RCV005073343] |
Chr2:96285199 [GRCh38] Chr2:96950937 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4191C>T (p.Phe1397=) |
single nucleotide variant |
not provided [RCV005139027] |
Chr2:96284559 [GRCh38] Chr2:96950297 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1240C>T (p.Leu414=) |
single nucleotide variant |
not provided [RCV005116408] |
Chr2:96297500 [GRCh38] Chr2:96963238 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.339T>C (p.Tyr113=) |
single nucleotide variant |
not provided [RCV005079140] |
Chr2:96303201 [GRCh38] Chr2:96968939 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4802T>G (p.Leu1601Arg) |
single nucleotide variant |
not provided [RCV005133278] |
Chr2:96283314 [GRCh38] Chr2:96949052 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1346C>T (p.Ala449Val) |
single nucleotide variant |
not provided [RCV005161160] |
Chr2:96297394 [GRCh38] Chr2:96963132 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.883-13C>T |
single nucleotide variant |
not provided [RCV005141372] |
Chr2:96298715 [GRCh38] Chr2:96964453 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1102A>G (p.Lys368Glu) |
single nucleotide variant |
not provided [RCV005121091] |
Chr2:96298301 [GRCh38] Chr2:96964039 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2036+16G>A |
single nucleotide variant |
not provided [RCV005136241] |
Chr2:96293300 [GRCh38] Chr2:96959038 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5611T>G (p.Leu1871Val) |
single nucleotide variant |
not provided [RCV005163969] |
Chr2:96277950 [GRCh38] Chr2:96943688 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.760AAG[2] (p.Lys256del) |
microsatellite |
not provided [RCV005166496] |
Chr2:96298929..96298931 [GRCh38] Chr2:96964667..96964669 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3736G>A (p.Ala1246Thr) |
single nucleotide variant |
not provided [RCV005084174] |
Chr2:96286781 [GRCh38] Chr2:96952519 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3640-13C>G |
single nucleotide variant |
not provided [RCV005166447] |
Chr2:96286890 [GRCh38] Chr2:96952628 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.45+18G>A |
single nucleotide variant |
not provided [RCV005168690] |
Chr2:96305375 [GRCh38] Chr2:96971113 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.210-19C>G |
single nucleotide variant |
not provided [RCV005180172] |
Chr2:96303349 [GRCh38] Chr2:96969087 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5691T>G (p.Ala1897=) |
single nucleotide variant |
not provided [RCV005084431] |
Chr2:96277870 [GRCh38] Chr2:96943608 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1515+6C>T |
single nucleotide variant |
not provided [RCV005069869] |
Chr2:96296927 [GRCh38] Chr2:96962665 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5469C>T (p.Tyr1823=) |
single nucleotide variant |
not provided [RCV005169116] |
Chr2:96278566 [GRCh38] Chr2:96944304 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4763+16C>T |
single nucleotide variant |
not provided [RCV005071634] |
Chr2:96283519 [GRCh38] Chr2:96949257 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4017A>C (p.Val1339=) |
single nucleotide variant |
not provided [RCV005157512] |
Chr2:96285327 [GRCh38] Chr2:96951065 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2790G>T (p.Leu930=) |
single nucleotide variant |
not provided [RCV005162219] |
Chr2:96289949 [GRCh38] Chr2:96955687 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4756C>T (p.Arg1586Trp) |
single nucleotide variant |
not provided [RCV005178336] |
Chr2:96283542 [GRCh38] Chr2:96949280 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4585-3C>A |
single nucleotide variant |
not provided [RCV005160081] |
Chr2:96283716 [GRCh38] Chr2:96949454 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4930G>A (p.Val1644Met) |
single nucleotide variant |
not provided [RCV005157774] |
Chr2:96281908 [GRCh38] Chr2:96947646 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.5901C>G (p.Thr1967=) |
single nucleotide variant |
not provided [RCV005142762] |
Chr2:96277569 [GRCh38] Chr2:96943307 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1685A>G (p.Tyr562Cys) |
single nucleotide variant |
not provided [RCV005078786] |
Chr2:96295645 [GRCh38] Chr2:96961383 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1629C>T (p.Pro543=) |
single nucleotide variant |
not provided [RCV005070498] |
Chr2:96296578 [GRCh38] Chr2:96962316 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5978G>A (p.Arg1993Gln) |
single nucleotide variant |
not provided [RCV005129235] |
Chr2:96277195 [GRCh38] Chr2:96942933 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3045C>T (p.Phe1015=) |
single nucleotide variant |
not provided [RCV005078988] |
Chr2:96289275 [GRCh38] Chr2:96955013 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.717C>G (p.Thr239=) |
single nucleotide variant |
not provided [RCV005167788] |
Chr2:96299341 [GRCh38] Chr2:96965079 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2890C>T (p.Leu964=) |
single nucleotide variant |
not provided [RCV005116734] |
Chr2:96289849 [GRCh38] Chr2:96955587 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.523C>T (p.Leu175=) |
single nucleotide variant |
not provided [RCV005070634] |
Chr2:96301575 [GRCh38] Chr2:96967313 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2160+17T>G |
single nucleotide variant |
not provided [RCV005159569] |
Chr2:96292955 [GRCh38] Chr2:96958693 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3210G>C (p.Leu1070=) |
single nucleotide variant |
not provided [RCV005161931] |
Chr2:96288711 [GRCh38] Chr2:96954449 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3258+18T>C |
single nucleotide variant |
not provided [RCV005137786] |
Chr2:96288645 [GRCh38] Chr2:96954383 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3365+10C>T |
single nucleotide variant |
not provided [RCV005082431] |
Chr2:96287853 [GRCh38] Chr2:96953591 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2046A>C (p.Pro682=) |
single nucleotide variant |
not provided [RCV005108363] |
Chr2:96293086 [GRCh38] Chr2:96958824 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3766G>A (p.Val1256Met) |
single nucleotide variant |
not provided [RCV005127829] |
Chr2:96286751 [GRCh38] Chr2:96952489 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.1611G>A (p.Lys537=) |
single nucleotide variant |
not provided [RCV005134343] |
Chr2:96296596 [GRCh38] Chr2:96962334 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5868G>A (p.Lys1956=) |
single nucleotide variant |
not provided [RCV005160921] |
Chr2:96277602 [GRCh38] Chr2:96943340 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2436A>T (p.Thr812=) |
single nucleotide variant |
not provided [RCV005207633] |
Chr2:96290801 [GRCh38] Chr2:96956539 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.6250T>C (p.Leu2084=) |
single nucleotide variant |
not provided [RCV005139960] |
Chr2:96275274 [GRCh38] Chr2:96941012 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4915+19G>C |
single nucleotide variant |
not provided [RCV005069465] |
Chr2:96283182 [GRCh38] Chr2:96948920 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2554-16G>A |
single nucleotide variant |
not provided [RCV005108747] |
Chr2:96290530 [GRCh38] Chr2:96956268 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1099G>A (p.Glu367Lys) |
single nucleotide variant |
not provided [RCV005158721] |
Chr2:96298304 [GRCh38] Chr2:96964042 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3829+17C>T |
single nucleotide variant |
not provided [RCV005140124] |
Chr2:96286671 [GRCh38] Chr2:96952409 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.375G>A (p.Gly125=) |
single nucleotide variant |
not provided [RCV005141101] |
Chr2:96303165 [GRCh38] Chr2:96968903 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.574+19T>C |
single nucleotide variant |
not provided [RCV005075261] |
Chr2:96301505 [GRCh38] Chr2:96967243 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4176C>T (p.Asp1392=) |
single nucleotide variant |
not provided [RCV005165078] |
Chr2:96284574 [GRCh38] Chr2:96950312 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3615G>C (p.Thr1205=) |
single nucleotide variant |
not provided [RCV005187990] |
Chr2:96287030 [GRCh38] Chr2:96952768 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5040C>T (p.Pro1680=) |
single nucleotide variant |
not provided [RCV005159192] |
Chr2:96279544 [GRCh38] Chr2:96945282 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5932-18_5932-15del |
deletion |
not provided [RCV005162536] |
Chr2:96277256..96277259 [GRCh38] Chr2:96942994..96942997 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1253A>G (p.Gln418Arg) |
single nucleotide variant |
not provided [RCV005138503] |
Chr2:96297487 [GRCh38] Chr2:96963225 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2422-9C>T |
single nucleotide variant |
not provided [RCV005075851] |
Chr2:96290824 [GRCh38] Chr2:96956562 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4164+8G>A |
single nucleotide variant |
not provided [RCV005151598] |
Chr2:96285172 [GRCh38] Chr2:96950910 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3981C>T (p.Phe1327=) |
single nucleotide variant |
not provided [RCV005075436] |
Chr2:96286333 [GRCh38] Chr2:96952071 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4504C>T (p.His1502Tyr) |
single nucleotide variant |
not provided [RCV005071453] |
Chr2:96283893 [GRCh38] Chr2:96949631 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3339C>A (p.Asn1113Lys) |
single nucleotide variant |
not provided [RCV005073372] |
Chr2:96287889 [GRCh38] Chr2:96953627 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2160+9G>A |
single nucleotide variant |
not provided [RCV005177270] |
Chr2:96292963 [GRCh38] Chr2:96958701 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5645C>G (p.Pro1882Arg) |
single nucleotide variant |
not provided [RCV005128464] |
Chr2:96277916 [GRCh38] Chr2:96943654 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.2940+19T>G |
single nucleotide variant |
not provided [RCV005070524] |
Chr2:96289780 [GRCh38] Chr2:96955518 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.2803C>G (p.Leu935Val) |
single nucleotide variant |
not provided [RCV005154121] |
Chr2:96289936 [GRCh38] Chr2:96955674 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.729+20C>T |
single nucleotide variant |
not provided [RCV005180334] |
Chr2:96299309 [GRCh38] Chr2:96965047 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.5902T>C (p.Ser1968Pro) |
single nucleotide variant |
not provided [RCV005126518] |
Chr2:96277568 [GRCh38] Chr2:96943306 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.3577A>G (p.Ile1193Val) |
single nucleotide variant |
not provided [RCV005178130] |
Chr2:96287068 [GRCh38] Chr2:96952806 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4003+19C>T |
single nucleotide variant |
not provided [RCV005116249] |
Chr2:96286292 [GRCh38] Chr2:96952030 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.4748A>G (p.Asp1583Gly) |
single nucleotide variant |
not provided [RCV005126565] |
Chr2:96283550 [GRCh38] Chr2:96949288 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4672C>T (p.Pro1558Ser) |
single nucleotide variant |
not provided [RCV005198108] |
Chr2:96283626 [GRCh38] Chr2:96949364 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.1828C>T (p.Arg610Trp) |
single nucleotide variant |
not provided [RCV005071028] |
Chr2:96295502 [GRCh38] Chr2:96961240 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_014014.5(SNRNP200):c.4629C>G (p.Ala1543=) |
single nucleotide variant |
not provided [RCV005179861] |
Chr2:96283669 [GRCh38] Chr2:96949407 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_014014.5(SNRNP200):c.3485-11T>C |
single nucleotide variant |
not provided [RCV005205236] |
Chr2:96287171 [GRCh38] Chr2:96952909 [GRCh37] Chr2:2q11.2 |
likely benign |