| GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1 |
pathogenic |
| GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] |
Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3 |
pathogenic |
| NM_002432.1(MNDA):c.224T>C (p.Leu75Pro) |
single nucleotide variant |
Malignant melanoma [RCV000059942] |
Chr1:158842377 [GRCh38]
Chr1:158812167 [GRCh37]
Chr1:157078791 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_002432.3(MNDA):c.444G>A (p.Arg148=) |
single nucleotide variant |
not specified [RCV004050720] |
Chr1:158843996 [GRCh38]
Chr1:158813786 [GRCh37]
Chr1:157080410 [NCBI36]
Chr1:1q23.1 |
likely benign|not provided |
| NM_002432.1(MNDA):c.961G>A (p.Val321Met) |
single nucleotide variant |
Malignant melanoma [RCV000064240] |
Chr1:158845977 [GRCh38]
Chr1:158815767 [GRCh37]
Chr1:157082391 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_002432.1(MNDA):c.1177-628A>C |
single nucleotide variant |
Lung cancer [RCV000089821] |
Chr1:158848562 [GRCh38]
Chr1:158818352 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh38/hg38 1q23.1(chr1:158714213-158874430)x1 |
copy number loss |
See cases [RCV000137320] |
Chr1:158714213..158874430 [GRCh38]
Chr1:158684003..158844220 [GRCh37]
Chr1:156950627..157110844 [NCBI36]
Chr1:1q23.1 |
likely benign |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| Single allele |
deletion |
Large for gestational age [RCV000161185] |
Chr1:158783616..158907131 [GRCh38]
Chr1:158753406..158876921 [GRCh37]
Chr1:1q23.1 |
not provided |
| GRCh37/hg19 1q23.1(chr1:158681430-158849405)x1 |
copy number loss |
See cases [RCV000446877] |
Chr1:158681430..158849405 [GRCh37]
Chr1:1q23.1 |
likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002432.3(MNDA):c.1166G>A (p.Ser389Asn) |
single nucleotide variant |
not specified [RCV004330432] |
Chr1:158847906 [GRCh38]
Chr1:158817696 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1047T>C (p.Asp349=) |
single nucleotide variant |
not specified [RCV004330434] |
Chr1:158847787 [GRCh38]
Chr1:158817577 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.386G>T (p.Arg129Met) |
single nucleotide variant |
not specified [RCV004330435] |
Chr1:158843399 [GRCh38]
Chr1:158813189 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.651G>A (p.Leu217=) |
single nucleotide variant |
not specified [RCV004330436] |
Chr1:158845667 [GRCh38]
Chr1:158815457 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.919C>G (p.Pro307Ala) |
single nucleotide variant |
not specified [RCV004330446] |
Chr1:158845935 [GRCh38]
Chr1:158815725 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1091G>C (p.Gly364Ala) |
single nucleotide variant |
not specified [RCV004332128] |
Chr1:158847831 [GRCh38]
Chr1:158817621 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.679T>C (p.Ser227Pro) |
single nucleotide variant |
not specified [RCV004330437] |
Chr1:158845695 [GRCh38]
Chr1:158815485 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1188C>A (p.Ala396=) |
single nucleotide variant |
not specified [RCV004330438] |
Chr1:158849201 [GRCh38]
Chr1:158818991 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1121T>A (p.Leu374Gln) |
single nucleotide variant |
not specified [RCV004330442] |
Chr1:158847861 [GRCh38]
Chr1:158817651 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.959T>C (p.Met320Thr) |
single nucleotide variant |
not specified [RCV004330443] |
Chr1:158845975 [GRCh38]
Chr1:158815765 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1209A>G (p.Pro403=) |
single nucleotide variant |
not specified [RCV004330445] |
Chr1:158849222 [GRCh38]
Chr1:158819012 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1122G>A (p.Leu374=) |
single nucleotide variant |
not specified [RCV004330449] |
Chr1:158847862 [GRCh38]
Chr1:158817652 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.846A>G (p.Glu282=) |
single nucleotide variant |
not specified [RCV004330452] |
Chr1:158845862 [GRCh38]
Chr1:158815652 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.647T>C (p.Val216Ala) |
single nucleotide variant |
not specified [RCV004330453] |
Chr1:158845663 [GRCh38]
Chr1:158815453 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3 |
copy number gain |
See cases [RCV000512504] |
Chr1:158685035..159301350 [GRCh37]
Chr1:1q23.1-23.2 |
uncertain significance |
| GRCh37/hg19 1q23.1(chr1:158489545-158901383)x1 |
copy number loss |
not provided [RCV000684663] |
Chr1:158489545..158901383 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q23.1(chr1:158685035-158849405)x1 |
copy number loss |
not provided [RCV000684664] |
Chr1:158685035..158849405 [GRCh37]
Chr1:1q23.1 |
likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q23.1(chr1:158681743-158847720)x1 |
copy number loss |
not provided [RCV000736712] |
Chr1:158681743..158847720 [GRCh37]
Chr1:1q23.1 |
benign |
| GRCh37/hg19 1q23.1(chr1:158681743-158849932)x1 |
copy number loss |
not provided [RCV000736713] |
Chr1:158681743..158849932 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002432.3(MNDA):c.1067G>A (p.Trp356Ter) |
single nucleotide variant |
not provided [RCV000922516] |
Chr1:158847807 [GRCh38]
Chr1:158817597 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.177T>C (p.Val59=) |
single nucleotide variant |
not provided [RCV000946509]|not specified [RCV004029788] |
Chr1:158842330 [GRCh38]
Chr1:158812120 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002432.3(MNDA):c.351C>T (p.Thr117=) |
single nucleotide variant |
not provided [RCV000940541]|not specified [RCV004029704] |
Chr1:158843364 [GRCh38]
Chr1:158813154 [GRCh37]
Chr1:1q23.1 |
likely benign |
| GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 |
copy number loss |
not provided [RCV000848773] |
Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2 |
pathogenic |
| GRCh37/hg19 1q23.1(chr1:158489545-158889411)x1 |
copy number loss |
not provided [RCV001005144] |
Chr1:158489545..158889411 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.146C>A (p.Thr49Lys) |
single nucleotide variant |
not specified [RCV004291391] |
Chr1:158842299 [GRCh38]
Chr1:158812089 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.199G>C (p.Glu67Gln) |
single nucleotide variant |
not specified [RCV004291997] |
Chr1:158842352 [GRCh38]
Chr1:158812142 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| GRCh37/hg19 1q23.1(chr1:158489546-158889411)x1 |
copy number loss |
not provided [RCV001827719] |
Chr1:158489546..158889411 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_158581054)_(162750036_?)dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] |
Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
| NM_002432.3(MNDA):c.244C>T (p.Leu82Phe) |
single nucleotide variant |
not specified [RCV004327976] |
Chr1:158842397 [GRCh38]
Chr1:158812187 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1210A>G (p.Met404Val) |
single nucleotide variant |
not specified [RCV004327977] |
Chr1:158849223 [GRCh38]
Chr1:158819013 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.624A>G (p.Gln208=) |
single nucleotide variant |
not specified [RCV004053441] |
Chr1:158845640 [GRCh38]
Chr1:158815430 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1119A>G (p.Gln373=) |
single nucleotide variant |
not specified [RCV004062445] |
Chr1:158847859 [GRCh38]
Chr1:158817649 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.372G>A (p.Ser124=) |
single nucleotide variant |
not specified [RCV004049780] |
Chr1:158843385 [GRCh38]
Chr1:158813175 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.663G>A (p.Ala221=) |
single nucleotide variant |
not specified [RCV004054494] |
Chr1:158845679 [GRCh38]
Chr1:158815469 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.369A>G (p.Thr123=) |
single nucleotide variant |
not specified [RCV004049693] |
Chr1:158843382 [GRCh38]
Chr1:158813172 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.664C>T (p.Pro222Ser) |
single nucleotide variant |
not specified [RCV004054511] |
Chr1:158845680 [GRCh38]
Chr1:158815470 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.621C>G (p.Pro207=) |
single nucleotide variant |
not specified [RCV004053407] |
Chr1:158845637 [GRCh38]
Chr1:158815427 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.621C>T (p.Pro207=) |
single nucleotide variant |
not specified [RCV004053408] |
Chr1:158845637 [GRCh38]
Chr1:158815427 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.623A>C (p.Gln208Pro) |
single nucleotide variant |
not specified [RCV004053432] |
Chr1:158845639 [GRCh38]
Chr1:158815429 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.374A>C (p.Glu125Ala) |
single nucleotide variant |
not specified [RCV004049823] |
Chr1:158843387 [GRCh38]
Chr1:158813177 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.625A>C (p.Asn209His) |
single nucleotide variant |
not specified [RCV004053453] |
Chr1:158845641 [GRCh38]
Chr1:158815431 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1150G>T (p.Val384Leu) |
single nucleotide variant |
not specified [RCV004049696] |
Chr1:158847890 [GRCh38]
Chr1:158817680 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.29T>G (p.Leu10Trp) |
single nucleotide variant |
not specified [RCV004065478] |
Chr1:158842182 [GRCh38]
Chr1:158811972 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.365T>A (p.Leu122Gln) |
single nucleotide variant |
not specified [RCV004049593] |
Chr1:158843378 [GRCh38]
Chr1:158813168 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1124G>A (p.Arg375Lys) |
single nucleotide variant |
not specified [RCV004065482] |
Chr1:158847864 [GRCh38]
Chr1:158817654 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1200G>A (p.Lys400=) |
single nucleotide variant |
not specified [RCV004053046] |
Chr1:158849213 [GRCh38]
Chr1:158819003 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.366G>A (p.Leu122=) |
single nucleotide variant |
not specified [RCV004049622] |
Chr1:158843379 [GRCh38]
Chr1:158813169 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.976A>G (p.Met326Val) |
single nucleotide variant |
not specified [RCV004057584] |
Chr1:158845992 [GRCh38]
Chr1:158815782 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.543A>G (p.Ser181=) |
single nucleotide variant |
not specified [RCV004053072] |
Chr1:158844095 [GRCh38]
Chr1:158813885 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.666A>G (p.Pro222=) |
single nucleotide variant |
not specified [RCV004054531] |
Chr1:158845682 [GRCh38]
Chr1:158815472 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.957A>G (p.Thr319=) |
single nucleotide variant |
not specified [RCV004056927] |
Chr1:158845973 [GRCh38]
Chr1:158815763 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.552C>A (p.Ser184=) |
single nucleotide variant |
not specified [RCV004053192] |
Chr1:158844104 [GRCh38]
Chr1:158813894 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.553A>G (p.Asn185Asp) |
single nucleotide variant |
not specified [RCV004053207] |
Chr1:158844105 [GRCh38]
Chr1:158813895 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.28T>C (p.Leu10=) |
single nucleotide variant |
not specified [RCV004063100] |
Chr1:158842181 [GRCh38]
Chr1:158811971 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.339A>C (p.Ala113=) |
single nucleotide variant |
not specified [RCV004047917] |
Chr1:158843352 [GRCh38]
Chr1:158813142 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.810T>C (p.Asp270=) |
single nucleotide variant |
not specified [RCV004055457] |
Chr1:158845826 [GRCh38]
Chr1:158815616 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1074T>G (p.Asn358Lys) |
single nucleotide variant |
not specified [RCV004059519] |
Chr1:158847814 [GRCh38]
Chr1:158817604 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.960G>A (p.Met320Ile) |
single nucleotide variant |
not specified [RCV004056952] |
Chr1:158845976 [GRCh38]
Chr1:158815766 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1028A>G (p.Asp343Gly) |
single nucleotide variant |
not specified [RCV004058412] |
Chr1:158847768 [GRCh38]
Chr1:158817558 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.977T>C (p.Met326Thr) |
single nucleotide variant |
not specified [RCV004057601] |
Chr1:158845993 [GRCh38]
Chr1:158815783 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.634G>C (p.Val212Leu) |
single nucleotide variant |
not specified [RCV004053873] |
Chr1:158845650 [GRCh38]
Chr1:158815440 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.259T>A (p.Ser87Thr) |
single nucleotide variant |
not specified [RCV004062881] |
Chr1:158842412 [GRCh38]
Chr1:158812202 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.359A>G (p.Asn120Ser) |
single nucleotide variant |
not specified [RCV004049203] |
Chr1:158843372 [GRCh38]
Chr1:158813162 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1107C>A (p.Leu369=) |
single nucleotide variant |
not specified [RCV004062952] |
Chr1:158847847 [GRCh38]
Chr1:158817637 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.546T>C (p.Thr182=) |
single nucleotide variant |
not specified [RCV004053118] |
Chr1:158844098 [GRCh38]
Chr1:158813888 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1137C>A (p.Arg379=) |
single nucleotide variant |
not specified [RCV004049499] |
Chr1:158847877 [GRCh38]
Chr1:158817667 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.631C>T (p.Pro211Ser) |
single nucleotide variant |
not specified [RCV004053831] |
Chr1:158845647 [GRCh38]
Chr1:158815437 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.510G>A (p.Val170=) |
single nucleotide variant |
not specified [RCV004051028] |
Chr1:158844062 [GRCh38]
Chr1:158813852 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1154G>A (p.Cys385Tyr) |
single nucleotide variant |
not specified [RCV004048090] |
Chr1:158847894 [GRCh38]
Chr1:158817684 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.490G>A (p.Ala164Thr) |
single nucleotide variant |
not specified [RCV004050208] |
Chr1:158844042 [GRCh38]
Chr1:158813832 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.549A>G (p.Pro183=) |
single nucleotide variant |
not specified [RCV004053147] |
Chr1:158844101 [GRCh38]
Chr1:158813891 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1074T>C (p.Asn358=) |
single nucleotide variant |
not specified [RCV004059515] |
Chr1:158847814 [GRCh38]
Chr1:158817604 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1016A>G (p.Tyr339Cys) |
single nucleotide variant |
not specified [RCV004050229] |
Chr1:158847756 [GRCh38]
Chr1:158817546 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.387G>A (p.Arg129=) |
single nucleotide variant |
not specified [RCV004048786] |
Chr1:158843400 [GRCh38]
Chr1:158813190 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.54T>A (p.Asp18Glu) |
single nucleotide variant |
not specified [RCV004053161] |
Chr1:158842207 [GRCh38]
Chr1:158811997 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.54T>C (p.Asp18=) |
single nucleotide variant |
not specified [RCV004053162] |
Chr1:158842207 [GRCh38]
Chr1:158811997 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.674A>G (p.Tyr225Cys) |
single nucleotide variant |
not specified [RCV004052765] |
Chr1:158845690 [GRCh38]
Chr1:158815480 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.627C>T (p.Asn209=) |
single nucleotide variant |
not specified [RCV004053475] |
Chr1:158845643 [GRCh38]
Chr1:158815433 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1111T>C (p.Cys371Arg) |
single nucleotide variant |
not specified [RCV004064044] |
Chr1:158847851 [GRCh38]
Chr1:158817641 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1012A>T (p.Ile338Phe) |
single nucleotide variant |
not specified [RCV004049249] |
Chr1:158847752 [GRCh38]
Chr1:158817542 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.194T>A (p.Leu65Gln) |
single nucleotide variant |
not specified [RCV004061476] |
Chr1:158842347 [GRCh38]
Chr1:158812137 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.127T>C (p.Tyr43His) |
single nucleotide variant |
not specified [RCV004056984] |
Chr1:158842280 [GRCh38]
Chr1:158812070 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.202C>T (p.Leu68Phe) |
single nucleotide variant |
not specified [RCV004059563] |
Chr1:158842355 [GRCh38]
Chr1:158812145 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.708T>C (p.Phe236=) |
single nucleotide variant |
not specified [RCV004055239] |
Chr1:158845724 [GRCh38]
Chr1:158815514 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.708T>G (p.Phe236Leu) |
single nucleotide variant |
not specified [RCV004055242] |
Chr1:158845724 [GRCh38]
Chr1:158815514 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.79T>C (p.Ser27Pro) |
single nucleotide variant |
not specified [RCV004055366] |
Chr1:158842232 [GRCh38]
Chr1:158812022 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.264A>C (p.Lys88Asn) |
single nucleotide variant |
not specified [RCV004063528] |
Chr1:158842417 [GRCh38]
Chr1:158812207 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.709C>G (p.His237Asp) |
single nucleotide variant |
not specified [RCV004055250] |
Chr1:158845725 [GRCh38]
Chr1:158815515 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.638C>G (p.Thr213Arg) |
single nucleotide variant |
not specified [RCV004053917] |
Chr1:158845654 [GRCh38]
Chr1:158815444 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.672A>T (p.Lys224Asn) |
single nucleotide variant |
not specified [RCV004052749] |
Chr1:158845688 [GRCh38]
Chr1:158815478 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.431C>G (p.Thr144Ser) |
single nucleotide variant |
not specified [RCV004330433] |
Chr1:158843983 [GRCh38]
Chr1:158813773 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.682C>A (p.Pro228Thr) |
single nucleotide variant |
not specified [RCV004330439] |
Chr1:158845698 [GRCh38]
Chr1:158815488 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.717A>C (p.Thr239=) |
single nucleotide variant |
not specified [RCV004330444] |
Chr1:158845733 [GRCh38]
Chr1:158815523 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.964T>C (p.Tyr322His) |
single nucleotide variant |
not specified [RCV004330447] |
Chr1:158845980 [GRCh38]
Chr1:158815770 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.872A>G (p.Gln291Arg) |
single nucleotide variant |
not specified [RCV004330448] |
Chr1:158845888 [GRCh38]
Chr1:158815678 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1172T>C (p.Ile391Thr) |
single nucleotide variant |
not specified [RCV004330454] |
Chr1:158847912 [GRCh38]
Chr1:158817702 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.855T>G (p.Ser285=) |
single nucleotide variant |
not specified [RCV004330455] |
Chr1:158845871 [GRCh38]
Chr1:158815661 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1002G>T (p.Lys334Asn) |
single nucleotide variant |
not specified [RCV004330456] |
Chr1:158847742 [GRCh38]
Chr1:158817532 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.181T>G (p.Cys61Gly) |
single nucleotide variant |
not specified [RCV004059375] |
Chr1:158842334 [GRCh38]
Chr1:158812124 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.459A>G (p.Gln153=) |
single nucleotide variant |
not specified [RCV004051487] |
Chr1:158844011 [GRCh38]
Chr1:158813801 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.192A>G (p.Lys64=) |
single nucleotide variant |
not specified [RCV004060900] |
Chr1:158842345 [GRCh38]
Chr1:158812135 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.792G>A (p.Lys264=) |
single nucleotide variant |
not specified [RCV004054791] |
Chr1:158845808 [GRCh38]
Chr1:158815598 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.499T>A (p.Ser167Thr) |
single nucleotide variant |
not specified [RCV004050863] |
Chr1:158844051 [GRCh38]
Chr1:158813841 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1190A>C (p.Lys397Thr) |
single nucleotide variant |
not specified [RCV004050875] |
Chr1:158849203 [GRCh38]
Chr1:158818993 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1006A>G (p.Asn336Asp) |
single nucleotide variant |
not specified [RCV004059454] |
Chr1:158847746 [GRCh38]
Chr1:158817536 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.414T>G (p.Thr138=) |
single nucleotide variant |
not specified [RCV004051781] |
Chr1:158843966 [GRCh38]
Chr1:158813756 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.437C>G (p.Ala146Gly) |
single nucleotide variant |
not specified [RCV004050602] |
Chr1:158843989 [GRCh38]
Chr1:158813779 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.802A>G (p.Ile268Val) |
single nucleotide variant |
not specified [RCV004055391] |
Chr1:158845818 [GRCh38]
Chr1:158815608 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.215T>C (p.Met72Thr) |
single nucleotide variant |
not specified [RCV004061065] |
Chr1:158842368 [GRCh38]
Chr1:158812158 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.183T>C (p.Cys61=) |
single nucleotide variant |
not specified [RCV004059975] |
Chr1:158842336 [GRCh38]
Chr1:158812126 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.268G>A (p.Ala90Thr) |
single nucleotide variant |
not specified [RCV004327978] |
Chr1:158843281 [GRCh38]
Chr1:158813071 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.476C>G (p.Pro159Arg) |
single nucleotide variant |
not specified [RCV004327979] |
Chr1:158844028 [GRCh38]
Chr1:158813818 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.84A>C (p.Leu28Phe) |
single nucleotide variant |
not specified [RCV004056188] |
Chr1:158842237 [GRCh38]
Chr1:158812027 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.649C>G (p.Leu217Val) |
single nucleotide variant |
not specified [RCV004054327] |
Chr1:158845665 [GRCh38]
Chr1:158815455 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1215T>A (p.Asn405Lys) |
single nucleotide variant |
not specified [RCV004052705] |
Chr1:158849228 [GRCh38]
Chr1:158819018 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.481C>T (p.Pro161Ser) |
single nucleotide variant |
not specified [RCV004052183] |
Chr1:158844033 [GRCh38]
Chr1:158813823 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.211G>A (p.Asp71Asn) |
single nucleotide variant |
not specified [RCV004060397] |
Chr1:158842364 [GRCh38]
Chr1:158812154 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.311T>C (p.Ile104Thr) |
single nucleotide variant |
not specified [RCV004048392] |
Chr1:158843324 [GRCh38]
Chr1:158813114 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.864C>T (p.Asp288=) |
single nucleotide variant |
not specified [RCV004056587] |
Chr1:158845880 [GRCh38]
Chr1:158815670 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.761T>C (p.Ile254Thr) |
single nucleotide variant |
not specified [RCV004056468] |
Chr1:158845777 [GRCh38]
Chr1:158815567 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1080G>A (p.Lys360=) |
single nucleotide variant |
not specified [RCV004060439] |
Chr1:158847820 [GRCh38]
Chr1:158817610 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1080G>C (p.Lys360Asn) |
single nucleotide variant |
not specified [RCV004060443] |
Chr1:158847820 [GRCh38]
Chr1:158817610 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.101G>A (p.Gly34Glu) |
single nucleotide variant |
not specified [RCV004052843] |
Chr1:158842254 [GRCh38]
Chr1:158812044 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.109A>G (p.Thr37Ala) |
single nucleotide variant |
not specified [RCV004063905] |
Chr1:158842262 [GRCh38]
Chr1:158812052 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.262A>G (p.Lys88Glu) |
single nucleotide variant |
not specified [RCV004062991] |
Chr1:158842415 [GRCh38]
Chr1:158812205 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.717A>G (p.Thr239=) |
single nucleotide variant |
not specified [RCV004055321] |
Chr1:158845733 [GRCh38]
Chr1:158815523 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.586G>T (p.Ala196Ser) |
single nucleotide variant |
not specified [RCV004054208] |
Chr1:158845602 [GRCh38]
Chr1:158815392 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.41T>A (p.Phe14Tyr) |
single nucleotide variant |
not specified [RCV004051876] |
Chr1:158842194 [GRCh38]
Chr1:158811984 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1120C>T (p.Leu374=) |
single nucleotide variant |
not specified [RCV004063147] |
Chr1:158847860 [GRCh38]
Chr1:158817650 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1103G>A (p.Arg368Gln) |
single nucleotide variant |
not specified [RCV004062217] |
Chr1:158847843 [GRCh38]
Chr1:158817633 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.923A>G (p.Lys308Arg) |
single nucleotide variant |
not specified [RCV004055619] |
Chr1:158845939 [GRCh38]
Chr1:158815729 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.924G>T (p.Lys308Asn) |
single nucleotide variant |
not specified [RCV004055634] |
Chr1:158845940 [GRCh38]
Chr1:158815730 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.925A>G (p.Ile309Val) |
single nucleotide variant |
not specified [RCV004055637] |
Chr1:158845941 [GRCh38]
Chr1:158815731 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.605C>G (p.Ala202Gly) |
single nucleotide variant |
not specified [RCV004052643] |
Chr1:158845621 [GRCh38]
Chr1:158815411 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.704T>C (p.Met235Thr) |
single nucleotide variant |
not specified [RCV004055190] |
Chr1:158845720 [GRCh38]
Chr1:158815510 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.123G>C (p.Glu41Asp) |
single nucleotide variant |
not specified [RCV004055828] |
Chr1:158842276 [GRCh38]
Chr1:158812066 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.344C>T (p.Ala115Val) |
single nucleotide variant |
not specified [RCV004048553] |
Chr1:158843357 [GRCh38]
Chr1:158813147 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.606A>G (p.Ala202=) |
single nucleotide variant |
not specified [RCV004052654] |
Chr1:158845622 [GRCh38]
Chr1:158815412 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.447T>A (p.Asn149Lys) |
single nucleotide variant |
not specified [RCV004050774] |
Chr1:158843999 [GRCh38]
Chr1:158813789 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.898A>G (p.Ile300Val) |
single nucleotide variant |
not specified [RCV004054908] |
Chr1:158845914 [GRCh38]
Chr1:158815704 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.994G>A (p.Val332Ile) |
single nucleotide variant |
not specified [RCV004057716] |
Chr1:158847734 [GRCh38]
Chr1:158817524 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.901G>A (p.Glu301Lys) |
single nucleotide variant |
not specified [RCV004054935] |
Chr1:158845917 [GRCh38]
Chr1:158815707 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.901G>C (p.Glu301Gln) |
single nucleotide variant |
not specified [RCV004054937] |
Chr1:158845917 [GRCh38]
Chr1:158815707 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1208C>A (p.Pro403Gln) |
single nucleotide variant |
not specified [RCV004053740] |
Chr1:158849221 [GRCh38]
Chr1:158819011 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.318G>A (p.Gln106=) |
single nucleotide variant |
not specified [RCV004048882] |
Chr1:158843331 [GRCh38]
Chr1:158813121 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.592C>A (p.Arg198=) |
single nucleotide variant |
not specified [RCV004054279] |
Chr1:158845608 [GRCh38]
Chr1:158815398 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.592C>T (p.Arg198Trp) |
single nucleotide variant |
not specified [RCV004599315] |
Chr1:158845608 [GRCh38]
Chr1:158815398 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.158A>G (p.Glu53Gly) |
single nucleotide variant |
not specified [RCV004057346] |
Chr1:158842311 [GRCh38]
Chr1:158812101 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.795C>T (p.Val265=) |
single nucleotide variant |
not specified [RCV004054811] |
Chr1:158845811 [GRCh38]
Chr1:158815601 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1073A>G (p.Asn358Ser) |
single nucleotide variant |
not specified [RCV004061699] |
Chr1:158847813 [GRCh38]
Chr1:158817603 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1011A>G (p.Thr337=) |
single nucleotide variant |
not specified [RCV004049416] |
Chr1:158847751 [GRCh38]
Chr1:158817541 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.873A>T (p.Gln291His) |
single nucleotide variant |
not specified [RCV004056671] |
Chr1:158845889 [GRCh38]
Chr1:158815679 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.979T>C (p.Leu327=) |
single nucleotide variant |
not specified [RCV004057617] |
Chr1:158845995 [GRCh38]
Chr1:158815785 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.981A>G (p.Leu327=) |
single nucleotide variant |
not specified [RCV004057627] |
Chr1:158845997 [GRCh38]
Chr1:158815787 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.912T>C (p.Asn304=) |
single nucleotide variant |
not specified [RCV004055024] |
Chr1:158845928 [GRCh38]
Chr1:158815718 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.921C>G (p.Pro307=) |
single nucleotide variant |
not specified [RCV004055604] |
Chr1:158845937 [GRCh38]
Chr1:158815727 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.661G>T (p.Ala221Ser) |
single nucleotide variant |
not specified [RCV004054473] |
Chr1:158845677 [GRCh38]
Chr1:158815467 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.662C>A (p.Ala221Glu) |
single nucleotide variant |
not specified [RCV004054479] |
Chr1:158845678 [GRCh38]
Chr1:158815468 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.612A>G (p.Arg204=) |
single nucleotide variant |
not specified [RCV004053289] |
Chr1:158845628 [GRCh38]
Chr1:158815418 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.614A>T (p.Asn205Ile) |
single nucleotide variant |
not specified [RCV004053314] |
Chr1:158845630 [GRCh38]
Chr1:158815420 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.852A>T (p.Ser284=) |
single nucleotide variant |
not specified [RCV004056224] |
Chr1:158845868 [GRCh38]
Chr1:158815658 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.649C>T (p.Leu217=) |
single nucleotide variant |
not specified [RCV004054328] |
Chr1:158845665 [GRCh38]
Chr1:158815455 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.769A>C (p.Lys257Gln) |
single nucleotide variant |
not specified [RCV004054589] |
Chr1:158845785 [GRCh38]
Chr1:158815575 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1032T>A (p.Asn344Lys) |
single nucleotide variant |
not specified [RCV004057111] |
Chr1:158847772 [GRCh38]
Chr1:158817562 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1035A>C (p.Thr345=) |
single nucleotide variant |
not specified [RCV004057227] |
Chr1:158847775 [GRCh38]
Chr1:158817565 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.406A>G (p.Arg136Gly) |
single nucleotide variant |
not specified [RCV004051255] |
Chr1:158843958 [GRCh38]
Chr1:158813748 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1048G>A (p.Val350Ile) |
single nucleotide variant |
not specified [RCV004057410] |
Chr1:158847788 [GRCh38]
Chr1:158817578 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.478G>C (p.Gly160Arg) |
single nucleotide variant |
not specified [RCV004052139] |
Chr1:158844030 [GRCh38]
Chr1:158813820 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1141C>T (p.Leu381=) |
single nucleotide variant |
not specified [RCV004048529] |
Chr1:158847881 [GRCh38]
Chr1:158817671 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.675C>T (p.Tyr225=) |
single nucleotide variant |
not specified [RCV004052774] |
Chr1:158845691 [GRCh38]
Chr1:158815481 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.684A>G (p.Pro228=) |
single nucleotide variant |
not specified [RCV004052873] |
Chr1:158845700 [GRCh38]
Chr1:158815490 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.468T>A (p.Ser156Arg) |
single nucleotide variant |
not specified [RCV004051988] |
Chr1:158844020 [GRCh38]
Chr1:158813810 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.39A>G (p.Gly13=) |
single nucleotide variant |
not specified [RCV004050571] |
Chr1:158842192 [GRCh38]
Chr1:158811982 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.686A>C (p.Glu229Ala) |
single nucleotide variant |
not specified [RCV004052897] |
Chr1:158845702 [GRCh38]
Chr1:158815492 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.615T>C (p.Asn205=) |
single nucleotide variant |
not specified [RCV004053340] |
Chr1:158845631 [GRCh38]
Chr1:158815421 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.646G>T (p.Val216Leu) |
single nucleotide variant |
not specified [RCV004054030] |
Chr1:158845662 [GRCh38]
Chr1:158815452 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.880G>A (p.Glu294Lys) |
single nucleotide variant |
not specified [RCV004056733] |
Chr1:158845896 [GRCh38]
Chr1:158815686 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.84A>G (p.Leu28=) |
single nucleotide variant |
not specified [RCV004056190] |
Chr1:158842237 [GRCh38]
Chr1:158812027 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.12A>G (p.Glu4=) |
single nucleotide variant |
not specified [RCV004058242] |
Chr1:158842165 [GRCh38]
Chr1:158811955 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.480T>C (p.Gly160=) |
single nucleotide variant |
not specified [RCV004052167] |
Chr1:158844032 [GRCh38]
Chr1:158813822 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.205G>A (p.Ala69Thr) |
single nucleotide variant |
not specified [RCV004059676] |
Chr1:158842358 [GRCh38]
Chr1:158812148 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.153G>A (p.Leu51=) |
single nucleotide variant |
not specified [RCV004059012] |
Chr1:158842306 [GRCh38]
Chr1:158812096 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.697A>C (p.Ser233Arg) |
single nucleotide variant |
not specified [RCV004053530] |
Chr1:158845713 [GRCh38]
Chr1:158815503 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.124G>A (p.Glu42Lys) |
single nucleotide variant |
not specified [RCV004054628] |
Chr1:158842277 [GRCh38]
Chr1:158812067 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.291A>T (p.Glu97Asp) |
single nucleotide variant |
not specified [RCV004063155] |
Chr1:158843304 [GRCh38]
Chr1:158813094 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.650T>A (p.Leu217Gln) |
single nucleotide variant |
not specified [RCV004054345] |
Chr1:158845666 [GRCh38]
Chr1:158815456 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.646G>A (p.Val216Ile) |
single nucleotide variant |
not specified [RCV004054027] |
Chr1:158845662 [GRCh38]
Chr1:158815452 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.25C>G (p.Leu9Val) |
single nucleotide variant |
not specified [RCV004062886] |
Chr1:158842178 [GRCh38]
Chr1:158811968 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.690T>C (p.Asn230=) |
single nucleotide variant |
not specified [RCV004052951] |
Chr1:158845706 [GRCh38]
Chr1:158815496 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1039T>C (p.Ser347Pro) |
single nucleotide variant |
not specified [RCV004058454] |
Chr1:158847779 [GRCh38]
Chr1:158817569 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1042A>G (p.Met348Val) |
single nucleotide variant |
not specified [RCV004058661] |
Chr1:158847782 [GRCh38]
Chr1:158817572 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1042A>T (p.Met348Leu) |
single nucleotide variant |
not specified [RCV004058667] |
Chr1:158847782 [GRCh38]
Chr1:158817572 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.241A>C (p.Asn81His) |
single nucleotide variant |
not specified [RCV004063477] |
Chr1:158842394 [GRCh38]
Chr1:158812184 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.830T>G (p.Val277Gly) |
single nucleotide variant |
not specified [RCV004056033] |
Chr1:158845846 [GRCh38]
Chr1:158815636 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.88G>A (p.Ala30Thr) |
single nucleotide variant |
not specified [RCV004054851] |
Chr1:158842241 [GRCh38]
Chr1:158812031 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.383G>T (p.Gly128Val) |
single nucleotide variant |
not specified [RCV004048189] |
Chr1:158843396 [GRCh38]
Chr1:158813186 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.833T>C (p.Met278Thr) |
single nucleotide variant |
not specified [RCV004056056] |
Chr1:158845849 [GRCh38]
Chr1:158815639 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.831A>G (p.Val277=) |
single nucleotide variant |
not specified [RCV004056036] |
Chr1:158845847 [GRCh38]
Chr1:158815637 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.730A>G (p.Thr244Ala) |
single nucleotide variant |
not specified [RCV004055877] |
Chr1:158845746 [GRCh38]
Chr1:158815536 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.517C>A (p.Pro173Thr) |
single nucleotide variant |
not specified [RCV004051642] |
Chr1:158844069 [GRCh38]
Chr1:158813859 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.179C>A (p.Ala60Asp) |
single nucleotide variant |
not specified [RCV004059265] |
Chr1:158842332 [GRCh38]
Chr1:158812122 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.103C>T (p.Leu35=) |
single nucleotide variant |
not specified [RCV004058478] |
Chr1:158842256 [GRCh38]
Chr1:158812046 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1100T>C (p.Leu367Pro) |
single nucleotide variant |
not specified [RCV004062047] |
Chr1:158847840 [GRCh38]
Chr1:158817630 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.382G>A (p.Gly128Arg) |
single nucleotide variant |
not specified [RCV004048172] |
Chr1:158843395 [GRCh38]
Chr1:158813185 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.389T>C (p.Ile130Thr) |
single nucleotide variant |
not specified [RCV004050357] |
Chr1:158843402 [GRCh38]
Chr1:158813192 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.321A>C (p.Glu107Asp) |
single nucleotide variant |
not specified [RCV004048999] |
Chr1:158843334 [GRCh38]
Chr1:158813124 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.213T>C (p.Asp71=) |
single nucleotide variant |
not specified [RCV004060994] |
Chr1:158842366 [GRCh38]
Chr1:158812156 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.731C>T (p.Thr244Ile) |
single nucleotide variant |
not specified [RCV004055894] |
Chr1:158845747 [GRCh38]
Chr1:158815537 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.148G>C (p.Asp50His) |
single nucleotide variant |
not specified [RCV004058489] |
Chr1:158842301 [GRCh38]
Chr1:158812091 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.223C>T (p.Leu75Phe) |
single nucleotide variant |
not specified [RCV004061877] |
Chr1:158842376 [GRCh38]
Chr1:158812166 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.827G>T (p.Gly276Val) |
single nucleotide variant |
not specified [RCV004055997] |
Chr1:158845843 [GRCh38]
Chr1:158815633 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.291A>G (p.Glu97=) |
single nucleotide variant |
not specified [RCV004063154] |
Chr1:158843304 [GRCh38]
Chr1:158813094 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.391C>T (p.Pro131Ser) |
single nucleotide variant |
not specified [RCV004050395] |
Chr1:158843404 [GRCh38]
Chr1:158813194 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.335C>T (p.Ala112Val) |
single nucleotide variant |
not specified [RCV004047819] |
Chr1:158843348 [GRCh38]
Chr1:158813138 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.639A>G (p.Thr213=) |
single nucleotide variant |
not specified [RCV004053929] |
Chr1:158845655 [GRCh38]
Chr1:158815445 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1008C>T (p.Asn336=) |
single nucleotide variant |
not specified [RCV004063396] |
Chr1:158847748 [GRCh38]
Chr1:158817538 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.259T>C (p.Ser87Pro) |
single nucleotide variant |
not specified [RCV004062882] |
Chr1:158842412 [GRCh38]
Chr1:158812202 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.900C>T (p.Ile300=) |
single nucleotide variant |
not specified [RCV004054924] |
Chr1:158845916 [GRCh38]
Chr1:158815706 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.126A>G (p.Glu42=) |
single nucleotide variant |
not specified [RCV004054829] |
Chr1:158842279 [GRCh38]
Chr1:158812069 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1049T>C (p.Val350Ala) |
single nucleotide variant |
not specified [RCV004057486] |
Chr1:158847789 [GRCh38]
Chr1:158817579 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.9T>A (p.Asn3Lys) |
single nucleotide variant |
not specified [RCV004057767] |
Chr1:158842162 [GRCh38]
Chr1:158811952 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.294A>G (p.Lys98=) |
single nucleotide variant |
not specified [RCV004065318] |
Chr1:158843307 [GRCh38]
Chr1:158813097 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.324A>C (p.Glu108Asp) |
single nucleotide variant |
not specified [RCV004049345] |
Chr1:158843337 [GRCh38]
Chr1:158813127 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.158A>T (p.Glu53Val) |
single nucleotide variant |
not specified [RCV004057348] |
Chr1:158842311 [GRCh38]
Chr1:158812101 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.519C>T (p.Pro173=) |
single nucleotide variant |
not specified [RCV004051674] |
Chr1:158844071 [GRCh38]
Chr1:158813861 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1186G>T (p.Ala396Ser) |
single nucleotide variant |
not specified [RCV004050108] |
Chr1:158849199 [GRCh38]
Chr1:158818989 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1040C>T (p.Ser347Phe) |
single nucleotide variant |
not specified [RCV004058536] |
Chr1:158847780 [GRCh38]
Chr1:158817570 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.30G>T (p.Leu10Phe) |
single nucleotide variant |
not specified [RCV004048335] |
Chr1:158842183 [GRCh38]
Chr1:158811973 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.178G>T (p.Ala60Ser) |
single nucleotide variant |
not specified [RCV004059220] |
Chr1:158842331 [GRCh38]
Chr1:158812121 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.930T>G (p.Ser310Arg) |
single nucleotide variant |
not specified [RCV004055675] |
Chr1:158845946 [GRCh38]
Chr1:158815736 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.867T>C (p.Phe289=) |
single nucleotide variant |
not specified [RCV004056626] |
Chr1:158845883 [GRCh38]
Chr1:158815673 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.176T>A (p.Val59Asp) |
single nucleotide variant |
not specified [RCV004061390] |
Chr1:158842329 [GRCh38]
Chr1:158812119 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.155T>C (p.Met52Thr) |
single nucleotide variant |
not specified [RCV004059118] |
Chr1:158842308 [GRCh38]
Chr1:158812098 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.678G>T (p.Glu226Asp) |
single nucleotide variant |
not specified [RCV004052805] |
Chr1:158845694 [GRCh38]
Chr1:158815484 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.360C>G (p.Asn120Lys) |
single nucleotide variant |
not specified [RCV004049234] |
Chr1:158843373 [GRCh38]
Chr1:158813163 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.261A>G (p.Ser87=) |
single nucleotide variant |
not specified [RCV004062958] |
Chr1:158842414 [GRCh38]
Chr1:158812204 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1107C>T (p.Leu369=) |
single nucleotide variant |
not specified [RCV004062961] |
Chr1:158847847 [GRCh38]
Chr1:158817637 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.388A>G (p.Ile130Val) |
single nucleotide variant |
not specified [RCV004048801] |
Chr1:158843401 [GRCh38]
Chr1:158813191 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.966T>C (p.Tyr322=) |
single nucleotide variant |
not specified [RCV004056996] |
Chr1:158845982 [GRCh38]
Chr1:158815772 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1020A>G (p.Glu340=) |
single nucleotide variant |
not specified [RCV004055323] |
Chr1:158847760 [GRCh38]
Chr1:158817550 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.477A>C (p.Pro159=) |
single nucleotide variant |
not specified [RCV004052107] |
Chr1:158844029 [GRCh38]
Chr1:158813819 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.488G>C (p.Gly163Ala) |
single nucleotide variant |
not specified [RCV004050157] |
Chr1:158844040 [GRCh38]
Chr1:158813830 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1078A>C (p.Lys360Gln) |
single nucleotide variant |
not specified [RCV004059699] |
Chr1:158847818 [GRCh38]
Chr1:158817608 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.439A>G (p.Lys147Glu) |
single nucleotide variant |
not specified [RCV004050624] |
Chr1:158843991 [GRCh38]
Chr1:158813781 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.235G>C (p.Val79Leu) |
single nucleotide variant |
not specified [RCV004063291] |
Chr1:158842388 [GRCh38]
Chr1:158812178 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.24T>A (p.Ile8=) |
single nucleotide variant |
not specified [RCV004062020] |
Chr1:158842177 [GRCh38]
Chr1:158811967 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1214A>G (p.Asn405Ser) |
single nucleotide variant |
not specified [RCV004052579] |
Chr1:158849227 [GRCh38]
Chr1:158819017 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.110C>A (p.Thr37Lys) |
single nucleotide variant |
not specified [RCV004063628] |
Chr1:158842263 [GRCh38]
Chr1:158812053 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.164A>T (p.Lys55Met) |
single nucleotide variant |
not specified [RCV004059713] |
Chr1:158842317 [GRCh38]
Chr1:158812107 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.913A>G (p.Lys305Glu) |
single nucleotide variant |
not specified [RCV004055029] |
Chr1:158845929 [GRCh38]
Chr1:158815719 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.914A>G (p.Lys305Arg) |
single nucleotide variant |
not specified [RCV004055035] |
Chr1:158845930 [GRCh38]
Chr1:158815720 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1025A>G (p.Gln342Arg) |
single nucleotide variant |
not specified [RCV004058220] |
Chr1:158847765 [GRCh38]
Chr1:158817555 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.6G>A (p.Val2=) |
single nucleotide variant |
not specified [RCV004055128] |
Chr1:158842159 [GRCh38]
Chr1:158811949 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.278T>C (p.Ile93Thr) |
single nucleotide variant |
not specified [RCV004064227] |
Chr1:158843291 [GRCh38]
Chr1:158813081 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.279T>A (p.Ile93=) |
single nucleotide variant |
not specified [RCV004062245] |
Chr1:158843292 [GRCh38]
Chr1:158813082 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.945A>G (p.Gln315=) |
single nucleotide variant |
not specified [RCV004056821] |
Chr1:158845961 [GRCh38]
Chr1:158815751 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.273G>A (p.Lys91=) |
single nucleotide variant |
not specified [RCV004064070] |
Chr1:158843286 [GRCh38]
Chr1:158813076 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.596A>T (p.Gln199Leu) |
single nucleotide variant |
not specified [RCV004052502] |
Chr1:158845612 [GRCh38]
Chr1:158815402 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.597G>A (p.Gln199=) |
single nucleotide variant |
not specified [RCV004052516] |
Chr1:158845613 [GRCh38]
Chr1:158815403 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.304A>G (p.Lys102Glu) |
single nucleotide variant |
not specified [RCV004066384] |
Chr1:158843317 [GRCh38]
Chr1:158813107 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.165G>C (p.Lys55Asn) |
single nucleotide variant |
not specified [RCV004059768] |
Chr1:158842318 [GRCh38]
Chr1:158812108 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.847G>A (p.Ala283Thr) |
single nucleotide variant |
not specified [RCV004056177] |
Chr1:158845863 [GRCh38]
Chr1:158815653 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1136G>A (p.Arg379His) |
single nucleotide variant |
not specified [RCV004049459] |
Chr1:158847876 [GRCh38]
Chr1:158817666 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.490G>T (p.Ala164Ser) |
single nucleotide variant |
not specified [RCV004050210] |
Chr1:158844042 [GRCh38]
Chr1:158813832 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.427A>C (p.Lys143Gln) |
single nucleotide variant |
not specified [RCV004049897] |
Chr1:158843979 [GRCh38]
Chr1:158813769 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.520C>T (p.Pro174Ser) |
single nucleotide variant |
not specified [RCV004051698] |
Chr1:158844072 [GRCh38]
Chr1:158813862 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.392C>T (p.Pro131Leu) |
single nucleotide variant |
not specified [RCV004050421] |
Chr1:158843405 [GRCh38]
Chr1:158813195 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.946G>T (p.Ala316Ser) |
single nucleotide variant |
not specified [RCV004056842] |
Chr1:158845962 [GRCh38]
Chr1:158815752 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.395T>C (p.Val132Ala) |
single nucleotide variant |
not specified [RCV004050482] |
Chr1:158843408 [GRCh38]
Chr1:158813198 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.576G>A (p.Gln192=) |
single nucleotide variant |
not specified [RCV004054069] |
Chr1:158845592 [GRCh38]
Chr1:158815382 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.972G>A (p.Leu324=) |
single nucleotide variant |
not specified [RCV004057557] |
Chr1:158845988 [GRCh38]
Chr1:158815778 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.608G>C (p.Arg203Thr) |
single nucleotide variant |
not specified [RCV004052696] |
Chr1:158845624 [GRCh38]
Chr1:158815414 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.582C>T (p.Thr194=) |
single nucleotide variant |
not specified [RCV004054153] |
Chr1:158845598 [GRCh38]
Chr1:158815388 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.397G>T (p.Ala133Ser) |
single nucleotide variant |
not specified [RCV004050526] |
Chr1:158843410 [GRCh38]
Chr1:158813200 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.361A>C (p.Lys121Gln) |
single nucleotide variant |
not specified [RCV004049262] |
Chr1:158843374 [GRCh38]
Chr1:158813164 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.420C>T (p.Asn140=) |
single nucleotide variant |
not specified [RCV004051895] |
Chr1:158843972 [GRCh38]
Chr1:158813762 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.659C>G (p.Thr220Arg) |
single nucleotide variant |
not specified [RCV004054444] |
Chr1:158845675 [GRCh38]
Chr1:158815465 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.377C>T (p.Ala126Val) |
single nucleotide variant |
not specified [RCV004048072] |
Chr1:158843390 [GRCh38]
Chr1:158813180 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.592C>G (p.Arg198Gly) |
single nucleotide variant |
not specified [RCV004054280] |
Chr1:158845608 [GRCh38]
Chr1:158815398 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.870T>A (p.Asn290Lys) |
single nucleotide variant |
not specified [RCV004056661] |
Chr1:158845886 [GRCh38]
Chr1:158815676 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.9T>G (p.Asn3Lys) |
single nucleotide variant |
not specified [RCV004057770] |
Chr1:158842162 [GRCh38]
Chr1:158811952 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.416C>T (p.Pro139Leu) |
single nucleotide variant |
not specified [RCV004051824] |
Chr1:158843968 [GRCh38]
Chr1:158813758 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1217T>C (p.Val406Ala) |
single nucleotide variant |
not specified [RCV004053375] |
Chr1:158849230 [GRCh38]
Chr1:158819020 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.403A>G (p.Lys135Glu) |
single nucleotide variant |
not specified [RCV004051178] |
Chr1:158843955 [GRCh38]
Chr1:158813745 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.751G>A (p.Val251Ile) |
single nucleotide variant |
not specified [RCV004056360] |
Chr1:158845767 [GRCh38]
Chr1:158815557 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.146C>T (p.Thr49Ile) |
single nucleotide variant |
not specified [RCV004058004] |
Chr1:158842299 [GRCh38]
Chr1:158812089 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.616G>T (p.Val206Phe) |
single nucleotide variant |
not specified [RCV004053353] |
Chr1:158845632 [GRCh38]
Chr1:158815422 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.5T>C (p.Val2Ala) |
single nucleotide variant |
not specified [RCV004052560] |
Chr1:158842158 [GRCh38]
Chr1:158811948 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.128A>G (p.Tyr43Cys) |
single nucleotide variant |
not specified [RCV004058180] |
Chr1:158842281 [GRCh38]
Chr1:158812071 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.336G>A (p.Ala112=) |
single nucleotide variant |
not specified [RCV004047854] |
Chr1:158843349 [GRCh38]
Chr1:158813139 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1167C>T (p.Ser389=) |
single nucleotide variant |
not specified [RCV004051837] |
Chr1:158847907 [GRCh38]
Chr1:158817697 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.436G>A (p.Ala146Thr) |
single nucleotide variant |
not specified [RCV004050070] |
Chr1:158843988 [GRCh38]
Chr1:158813778 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.534C>T (p.Thr178=) |
single nucleotide variant |
not specified [RCV004052437] |
Chr1:158844086 [GRCh38]
Chr1:158813876 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1056G>T (p.Gly352=) |
single nucleotide variant |
not provided [RCV003408274]|not specified [RCV004060599] |
Chr1:158847796 [GRCh38]
Chr1:158817586 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.648A>T (p.Val216=) |
single nucleotide variant |
not specified [RCV004054313] |
Chr1:158845664 [GRCh38]
Chr1:158815454 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.705G>A (p.Met235Ile) |
single nucleotide variant |
not specified [RCV004055201] |
Chr1:158845721 [GRCh38]
Chr1:158815511 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.816T>C (p.Ser272=) |
single nucleotide variant |
not specified [RCV004055517] |
Chr1:158845832 [GRCh38]
Chr1:158815622 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.516T>A (p.His172Gln) |
single nucleotide variant |
not specified [RCV004051635] |
Chr1:158844068 [GRCh38]
Chr1:158813858 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.162A>G (p.Lys54=) |
single nucleotide variant |
not specified [RCV004058063] |
Chr1:158842315 [GRCh38]
Chr1:158812105 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1140G>A (p.Lys380=) |
single nucleotide variant |
not specified [RCV004047960] |
Chr1:158847880 [GRCh38]
Chr1:158817670 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.415C>A (p.Pro139Thr) |
single nucleotide variant |
not specified [RCV004051800] |
Chr1:158843967 [GRCh38]
Chr1:158813757 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.415C>G (p.Pro139Ala) |
single nucleotide variant |
not specified [RCV004051803] |
Chr1:158843967 [GRCh38]
Chr1:158813757 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.926T>G (p.Ile309Ser) |
single nucleotide variant |
not specified [RCV004055645] |
Chr1:158845942 [GRCh38]
Chr1:158815732 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.604G>A (p.Ala202Thr) |
single nucleotide variant |
not specified [RCV004052631] |
Chr1:158845620 [GRCh38]
Chr1:158815410 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1127C>A (p.Thr376Lys) |
single nucleotide variant |
not specified [RCV004066406] |
Chr1:158847867 [GRCh38]
Chr1:158817657 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1050A>G (p.Val350=) |
single nucleotide variant |
not specified [RCV004058084] |
Chr1:158847790 [GRCh38]
Chr1:158817580 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.229A>G (p.Asn77Asp) |
single nucleotide variant |
not specified [RCV004062601] |
Chr1:158842382 [GRCh38]
Chr1:158812172 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.173G>T (p.Gly58Val) |
single nucleotide variant |
not specified [RCV004061220] |
Chr1:158842326 [GRCh38]
Chr1:158812116 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.450G>A (p.Lys150=) |
single nucleotide variant |
not specified [RCV004050827] |
Chr1:158844002 [GRCh38]
Chr1:158813792 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.416C>G (p.Pro139Arg) |
single nucleotide variant |
not specified [RCV004051821] |
Chr1:158843968 [GRCh38]
Chr1:158813758 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.885C>G (p.Val295=) |
single nucleotide variant |
not specified [RCV004056765] |
Chr1:158845901 [GRCh38]
Chr1:158815691 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1052T>A (p.Val351Glu) |
single nucleotide variant |
not specified [RCV004059815] |
Chr1:158847792 [GRCh38]
Chr1:158817582 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.855T>C (p.Ser285=) |
single nucleotide variant |
not specified [RCV004056249] |
Chr1:158845871 [GRCh38]
Chr1:158815661 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.18G>A (p.Lys6=) |
single nucleotide variant |
not specified [RCV004060764] |
Chr1:158842171 [GRCh38]
Chr1:158811961 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.534C>G (p.Thr178=) |
single nucleotide variant |
not specified [RCV004052435] |
Chr1:158844086 [GRCh38]
Chr1:158813876 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.9T>C (p.Asn3=) |
single nucleotide variant |
not specified [RCV004057768] |
Chr1:158842162 [GRCh38]
Chr1:158811952 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.786G>A (p.Arg262=) |
single nucleotide variant |
not specified [RCV004054738] |
Chr1:158845802 [GRCh38]
Chr1:158815592 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.962T>C (p.Val321Ala) |
single nucleotide variant |
not specified [RCV004056969] |
Chr1:158845978 [GRCh38]
Chr1:158815768 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.209A>C (p.Lys70Thr) |
single nucleotide variant |
not specified [RCV004060315] |
Chr1:158842362 [GRCh38]
Chr1:158812152 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.461A>G (p.Glu154Gly) |
single nucleotide variant |
not specified [RCV004051519] |
Chr1:158844013 [GRCh38]
Chr1:158813803 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.539C>T (p.Ser180Leu) |
single nucleotide variant |
not specified [RCV004053015] |
Chr1:158844091 [GRCh38]
Chr1:158813881 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.967G>A (p.Gly323Arg) |
single nucleotide variant |
not specified [RCV004057004] |
Chr1:158845983 [GRCh38]
Chr1:158815773 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1038A>T (p.Gly346=) |
single nucleotide variant |
not specified [RCV004057945] |
Chr1:158847778 [GRCh38]
Chr1:158817568 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.521C>G (p.Pro174Arg) |
single nucleotide variant |
not specified [RCV004052224] |
Chr1:158844073 [GRCh38]
Chr1:158813863 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.526C>T (p.Pro176Ser) |
single nucleotide variant |
not specified [RCV004052312] |
Chr1:158844078 [GRCh38]
Chr1:158813868 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.237T>C (p.Val79=) |
single nucleotide variant |
not specified [RCV004063355] |
Chr1:158842390 [GRCh38]
Chr1:158812180 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.144T>G (p.Ile48Met) |
single nucleotide variant |
not specified [RCV004057906] |
Chr1:158842297 [GRCh38]
Chr1:158812087 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.527C>T (p.Pro176Leu) |
single nucleotide variant |
not specified [RCV004052328] |
Chr1:158844079 [GRCh38]
Chr1:158813869 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.528C>T (p.Pro176=) |
single nucleotide variant |
not specified [RCV004052339] |
Chr1:158844080 [GRCh38]
Chr1:158813870 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.281A>C (p.Lys94Thr) |
single nucleotide variant |
not specified [RCV004062312] |
Chr1:158843294 [GRCh38]
Chr1:158813084 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1049T>G (p.Val350Gly) |
single nucleotide variant |
not specified [RCV004057487] |
Chr1:158847789 [GRCh38]
Chr1:158817579 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.342T>A (p.Pro114=) |
single nucleotide variant |
not specified [RCV004048513] |
Chr1:158843355 [GRCh38]
Chr1:158813145 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.485C>T (p.Ser162Leu) |
single nucleotide variant |
not specified [RCV004050110] |
Chr1:158844037 [GRCh38]
Chr1:158813827 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1108T>C (p.Phe370Leu) |
single nucleotide variant |
not specified [RCV004063553] |
Chr1:158847848 [GRCh38]
Chr1:158817638 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1011A>T (p.Thr337=) |
single nucleotide variant |
not specified [RCV004049514] |
Chr1:158847751 [GRCh38]
Chr1:158817541 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.347C>A (p.Pro116His) |
single nucleotide variant |
not specified [RCV004048618] |
Chr1:158843360 [GRCh38]
Chr1:158813150 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.174C>T (p.Gly58=) |
single nucleotide variant |
not specified [RCV004061279] |
Chr1:158842327 [GRCh38]
Chr1:158812117 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1093G>T (p.Asp365Tyr) |
single nucleotide variant |
not specified [RCV004063249] |
Chr1:158847833 [GRCh38]
Chr1:158817623 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.255G>A (p.Glu85=) |
single nucleotide variant |
not specified [RCV004062220] |
Chr1:158842408 [GRCh38]
Chr1:158812198 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.463C>G (p.Gln155Glu) |
single nucleotide variant |
not specified [RCV004051554] |
Chr1:158844015 [GRCh38]
Chr1:158813805 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.191A>C (p.Lys64Thr) |
single nucleotide variant |
not specified [RCV004060850] |
Chr1:158842344 [GRCh38]
Chr1:158812134 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.568C>G (p.Pro190Ala) |
single nucleotide variant |
not specified [RCV004053704] |
Chr1:158844120 [GRCh38]
Chr1:158813910 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.407G>T (p.Arg136Ile) |
single nucleotide variant |
not specified [RCV004051278] |
Chr1:158843959 [GRCh38]
Chr1:158813749 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.55G>A (p.Asp19Asn) |
single nucleotide variant |
not specified [RCV004053579] |
Chr1:158842208 [GRCh38]
Chr1:158811998 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1211T>C (p.Met404Thr) |
single nucleotide variant |
not specified [RCV004054278] |
Chr1:158849224 [GRCh38]
Chr1:158819014 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.593G>A (p.Arg198Gln) |
single nucleotide variant |
not specified [RCV004054304] |
Chr1:158845609 [GRCh38]
Chr1:158815399 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.175G>A (p.Val59Ile) |
single nucleotide variant |
not specified [RCV004061331] |
Chr1:158842328 [GRCh38]
Chr1:158812118 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1047T>A (p.Asp349Glu) |
single nucleotide variant |
not specified [RCV004057343] |
Chr1:158847787 [GRCh38]
Chr1:158817577 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.525A>C (p.Leu175=) |
single nucleotide variant |
not specified [RCV004052289] |
Chr1:158844077 [GRCh38]
Chr1:158813867 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.119A>G (p.Gln40Arg) |
single nucleotide variant |
not specified [RCV004052383] |
Chr1:158842272 [GRCh38]
Chr1:158812062 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.877T>G (p.Phe293Val) |
single nucleotide variant |
not specified [RCV004056708] |
Chr1:158845893 [GRCh38]
Chr1:158815683 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1046A>T (p.Asp349Val) |
single nucleotide variant |
not specified [RCV004059179] |
Chr1:158847786 [GRCh38]
Chr1:158817576 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.560C>G (p.Ser187Trp) |
single nucleotide variant |
not specified [RCV004053589] |
Chr1:158844112 [GRCh38]
Chr1:158813902 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.307A>C (p.Lys103Gln) |
single nucleotide variant |
not specified [RCV004048260] |
Chr1:158843320 [GRCh38]
Chr1:158813110 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1045G>A (p.Asp349Asn) |
single nucleotide variant |
not specified [RCV004059138] |
Chr1:158847785 [GRCh38]
Chr1:158817575 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.974T>G (p.Phe325Cys) |
single nucleotide variant |
not specified [RCV004057574] |
Chr1:158845990 [GRCh38]
Chr1:158815780 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1204G>A (p.Gly402Arg) |
single nucleotide variant |
not specified [RCV004053547] |
Chr1:158849217 [GRCh38]
Chr1:158819007 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1052T>C (p.Val351Ala) |
single nucleotide variant |
not specified [RCV004059820] |
Chr1:158847792 [GRCh38]
Chr1:158817582 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.478G>T (p.Gly160Cys) |
single nucleotide variant |
not specified [RCV004052140] |
Chr1:158844030 [GRCh38]
Chr1:158813820 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.495C>A (p.Ser165Arg) |
single nucleotide variant |
not specified [RCV004050290] |
Chr1:158844047 [GRCh38]
Chr1:158813837 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.569C>T (p.Pro190Leu) |
single nucleotide variant |
not specified [RCV004053718] |
Chr1:158844121 [GRCh38]
Chr1:158813911 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.532A>G (p.Thr178Ala) |
single nucleotide variant |
not specified [RCV004052403] |
Chr1:158844084 [GRCh38]
Chr1:158813874 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1215T>C (p.Asn405=) |
single nucleotide variant |
not specified [RCV004052709] |
Chr1:158849228 [GRCh38]
Chr1:158819018 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.118C>A (p.Gln40Lys) |
single nucleotide variant |
not specified [RCV004050308] |
Chr1:158842271 [GRCh38]
Chr1:158812061 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.561G>A (p.Ser187=) |
single nucleotide variant |
not specified [RCV004053608] |
Chr1:158844113 [GRCh38]
Chr1:158813903 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.825A>G (p.Lys275=) |
single nucleotide variant |
not specified [RCV004055576] |
Chr1:158845841 [GRCh38]
Chr1:158815631 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1022T>C (p.Ile341Thr) |
single nucleotide variant |
not specified [RCV004056674] |
Chr1:158847762 [GRCh38]
Chr1:158817552 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.761T>A (p.Ile254Asn) |
single nucleotide variant |
not specified [RCV004056467] |
Chr1:158845777 [GRCh38]
Chr1:158815567 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.680C>A (p.Ser227Tyr) |
single nucleotide variant |
not specified [RCV004052829] |
Chr1:158845696 [GRCh38]
Chr1:158815486 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1041C>T (p.Ser347=) |
single nucleotide variant |
not specified [RCV004058593] |
Chr1:158847781 [GRCh38]
Chr1:158817571 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.614A>G (p.Asn205Ser) |
single nucleotide variant |
not specified [RCV004053313] |
Chr1:158845630 [GRCh38]
Chr1:158815420 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.380G>C (p.Arg127Thr) |
single nucleotide variant |
not specified [RCV004048136] |
Chr1:158843393 [GRCh38]
Chr1:158813183 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.651G>C (p.Leu217=) |
single nucleotide variant |
not specified [RCV004054356] |
Chr1:158845667 [GRCh38]
Chr1:158815457 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1061G>T (p.Gly354Val) |
single nucleotide variant |
not specified [RCV004059283] |
Chr1:158847801 [GRCh38]
Chr1:158817591 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.681C>T (p.Ser227=) |
single nucleotide variant |
not specified [RCV004052836] |
Chr1:158845697 [GRCh38]
Chr1:158815487 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1043T>C (p.Met348Thr) |
single nucleotide variant |
not specified [RCV004058997] |
Chr1:158847783 [GRCh38]
Chr1:158817573 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.993C>T (p.Ser331=) |
single nucleotide variant |
not specified [RCV004057712] |
Chr1:158847733 [GRCh38]
Chr1:158817523 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.193C>T (p.Leu65=) |
single nucleotide variant |
not specified [RCV004060949] |
Chr1:158842346 [GRCh38]
Chr1:158812136 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.254A>G (p.Glu85Gly) |
single nucleotide variant |
not specified [RCV004062184] |
Chr1:158842407 [GRCh38]
Chr1:158812197 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1151T>C (p.Val384Ala) |
single nucleotide variant |
not specified [RCV004049743] |
Chr1:158847891 [GRCh38]
Chr1:158817681 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.939C>T (p.Tyr313=) |
single nucleotide variant |
not specified [RCV004055727] |
Chr1:158845955 [GRCh38]
Chr1:158815745 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.471G>T (p.Lys157Asn) |
single nucleotide variant |
not specified [RCV004052033] |
Chr1:158844023 [GRCh38]
Chr1:158813813 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.207C>T (p.Ala69=) |
single nucleotide variant |
not specified [RCV004060256] |
Chr1:158842360 [GRCh38]
Chr1:158812150 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.275A>T (p.Lys92Ile) |
single nucleotide variant |
not specified [RCV004064140] |
Chr1:158843288 [GRCh38]
Chr1:158813078 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.584A>G (p.Gln195Arg) |
single nucleotide variant |
not specified [RCV004054184] |
Chr1:158845600 [GRCh38]
Chr1:158815390 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1134C>T (p.Asp378=) |
single nucleotide variant |
not specified [RCV004049319] |
Chr1:158847874 [GRCh38]
Chr1:158817664 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.720G>A (p.Val240=) |
single nucleotide variant |
not specified [RCV004055757] |
Chr1:158845736 [GRCh38]
Chr1:158815526 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1130T>C (p.Val377Ala) |
single nucleotide variant |
not specified [RCV004048500] |
Chr1:158847870 [GRCh38]
Chr1:158817660 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.641T>A (p.Val214Glu) |
single nucleotide variant |
not specified [RCV004053968] |
Chr1:158845657 [GRCh38]
Chr1:158815447 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.123G>A (p.Glu41=) |
single nucleotide variant |
not specified [RCV004055811] |
Chr1:158842276 [GRCh38]
Chr1:158812066 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.910A>G (p.Asn304Asp) |
single nucleotide variant |
not specified [RCV004055005] |
Chr1:158845926 [GRCh38]
Chr1:158815716 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.722C>T (p.Ala241Val) |
single nucleotide variant |
not specified [RCV004055788] |
Chr1:158845738 [GRCh38]
Chr1:158815528 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1147C>T (p.Leu383=) |
single nucleotide variant |
not specified [RCV004049169] |
Chr1:158847887 [GRCh38]
Chr1:158817677 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.999C>T (p.His333=) |
single nucleotide variant |
not specified [RCV004057745] |
Chr1:158847739 [GRCh38]
Chr1:158817529 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.105A>C (p.Leu35=) |
single nucleotide variant |
not specified [RCV004061359] |
Chr1:158842258 [GRCh38]
Chr1:158812048 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1103G>C (p.Arg368Pro) |
single nucleotide variant |
not specified [RCV004169182] |
Chr1:158847843 [GRCh38]
Chr1:158817633 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.637A>C (p.Thr213Pro) |
single nucleotide variant |
not specified [RCV004233469] |
Chr1:158845653 [GRCh38]
Chr1:158815443 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1069C>A (p.His357Asn) |
single nucleotide variant |
not specified [RCV004182686] |
Chr1:158847809 [GRCh38]
Chr1:158817599 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1076T>C (p.Ile359Thr) |
single nucleotide variant |
not specified [RCV004243061] |
Chr1:158847816 [GRCh38]
Chr1:158817606 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.654A>G (p.Lys218=) |
single nucleotide variant |
not specified [RCV004243063] |
Chr1:158845670 [GRCh38]
Chr1:158815460 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.151T>A (p.Leu51Met) |
single nucleotide variant |
not specified [RCV004243064] |
Chr1:158842304 [GRCh38]
Chr1:158812094 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1089A>G (p.Lys363=) |
single nucleotide variant |
not specified [RCV004243066] |
Chr1:158847829 [GRCh38]
Chr1:158817619 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.848C>A (p.Ala283Glu) |
single nucleotide variant |
not specified [RCV004243067] |
Chr1:158845864 [GRCh38]
Chr1:158815654 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.216G>T (p.Met72Ile) |
single nucleotide variant |
not specified [RCV004243071] |
Chr1:158842369 [GRCh38]
Chr1:158812159 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.735A>G (p.Gln245=) |
single nucleotide variant |
not specified [RCV004243072] |
Chr1:158845751 [GRCh38]
Chr1:158815541 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.360C>T (p.Asn120=) |
single nucleotide variant |
not specified [RCV004243073] |
Chr1:158843373 [GRCh38]
Chr1:158813163 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.428A>T (p.Lys143Met) |
single nucleotide variant |
not specified [RCV004281444] |
Chr1:158843980 [GRCh38]
Chr1:158813770 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.33G>A (p.Leu11=) |
single nucleotide variant |
not specified [RCV004281445] |
Chr1:158842186 [GRCh38]
Chr1:158811976 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.340C>G (p.Pro114Ala) |
single nucleotide variant |
not specified [RCV004281450] |
Chr1:158843353 [GRCh38]
Chr1:158813143 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.920C>T (p.Pro307Leu) |
single nucleotide variant |
not specified [RCV004281457] |
Chr1:158845936 [GRCh38]
Chr1:158815726 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1006A>C (p.Asn336His) |
single nucleotide variant |
not specified [RCV004281458] |
Chr1:158847746 [GRCh38]
Chr1:158817536 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.524T>G (p.Leu175Arg) |
single nucleotide variant |
not specified [RCV004281456] |
Chr1:158844076 [GRCh38]
Chr1:158813866 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.527C>A (p.Pro176His) |
single nucleotide variant |
not specified [RCV004281464] |
Chr1:158844079 [GRCh38]
Chr1:158813869 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.740T>C (p.Phe247Ser) |
single nucleotide variant |
not specified [RCV004281454] |
Chr1:158845756 [GRCh38]
Chr1:158815546 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.607A>G (p.Arg203Gly) |
single nucleotide variant |
not specified [RCV004281494] |
Chr1:158845623 [GRCh38]
Chr1:158815413 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.367A>G (p.Thr123Ala) |
single nucleotide variant |
not specified [RCV004281514] |
Chr1:158843380 [GRCh38]
Chr1:158813170 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.462G>A (p.Glu154=) |
single nucleotide variant |
not specified [RCV004283386] |
Chr1:158844014 [GRCh38]
Chr1:158813804 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.197T>C (p.Ile66Thr) |
single nucleotide variant |
not specified [RCV004283399] |
Chr1:158842350 [GRCh38]
Chr1:158812140 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.203T>C (p.Leu68Pro) |
single nucleotide variant |
not specified [RCV004283404] |
Chr1:158842356 [GRCh38]
Chr1:158812146 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1154G>T (p.Cys385Phe) |
single nucleotide variant |
not specified [RCV004281523] |
Chr1:158847894 [GRCh38]
Chr1:158817684 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.757G>C (p.Asp253His) |
single nucleotide variant |
not specified [RCV004281540] |
Chr1:158845773 [GRCh38]
Chr1:158815563 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.170A>C (p.Gln57Pro) |
single nucleotide variant |
not specified [RCV004243058] |
Chr1:158842323 [GRCh38]
Chr1:158812113 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.935T>G (p.Leu312Arg) |
single nucleotide variant |
not specified [RCV004243062] |
Chr1:158845951 [GRCh38]
Chr1:158815741 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.510G>C (p.Val170=) |
single nucleotide variant |
not specified [RCV004247543] |
Chr1:158844062 [GRCh38]
Chr1:158813852 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.165G>T (p.Lys55Asn) |
single nucleotide variant |
not specified [RCV004247544] |
Chr1:158842318 [GRCh38]
Chr1:158812108 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.508G>A (p.Val170Met) |
single nucleotide variant |
not specified [RCV004247545] |
Chr1:158844060 [GRCh38]
Chr1:158813850 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.157G>A (p.Glu53Lys) |
single nucleotide variant |
not specified [RCV004243059] |
Chr1:158842310 [GRCh38]
Chr1:158812100 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.930T>C (p.Ser310=) |
single nucleotide variant |
not specified [RCV004243060] |
Chr1:158845946 [GRCh38]
Chr1:158815736 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1174A>G (p.Lys392Glu) |
single nucleotide variant |
not specified [RCV004247539] |
Chr1:158847914 [GRCh38]
Chr1:158817704 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.394G>A (p.Val132Ile) |
single nucleotide variant |
not specified [RCV004247540] |
Chr1:158843407 [GRCh38]
Chr1:158813197 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.182G>C (p.Cys61Ser) |
single nucleotide variant |
not specified [RCV004247546] |
Chr1:158842335 [GRCh38]
Chr1:158812125 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.180C>T (p.Ala60=) |
single nucleotide variant |
not specified [RCV004243074] |
Chr1:158842333 [GRCh38]
Chr1:158812123 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.942G>A (p.Lys314=) |
single nucleotide variant |
not specified [RCV004243076] |
Chr1:158845958 [GRCh38]
Chr1:158815748 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.983A>G (p.Gln328Arg) |
single nucleotide variant |
not specified [RCV004281448] |
Chr1:158845999 [GRCh38]
Chr1:158815789 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.947C>T (p.Ala316Val) |
single nucleotide variant |
not specified [RCV004281449] |
Chr1:158845963 [GRCh38]
Chr1:158815753 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.341C>G (p.Pro114Arg) |
single nucleotide variant |
not specified [RCV004281459] |
Chr1:158843354 [GRCh38]
Chr1:158813144 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.545C>T (p.Thr182Ile) |
single nucleotide variant |
not specified [RCV004281461] |
Chr1:158844097 [GRCh38]
Chr1:158813887 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.581C>A (p.Thr194Asn) |
single nucleotide variant |
not specified [RCV004281470] |
Chr1:158845597 [GRCh38]
Chr1:158815387 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.121G>C (p.Glu41Gln) |
single nucleotide variant |
not specified [RCV004281453] |
Chr1:158842274 [GRCh38]
Chr1:158812064 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.605C>A (p.Ala202Glu) |
single nucleotide variant |
not specified [RCV004281452] |
Chr1:158845621 [GRCh38]
Chr1:158815411 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.861T>C (p.Ser287=) |
single nucleotide variant |
not specified [RCV004281478] |
Chr1:158845877 [GRCh38]
Chr1:158815667 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1216G>A (p.Val406Ile) |
single nucleotide variant |
not specified [RCV004281505] |
Chr1:158849229 [GRCh38]
Chr1:158819019 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1114C>T (p.Leu372Phe) |
single nucleotide variant |
not specified [RCV004281537] |
Chr1:158847854 [GRCh38]
Chr1:158817644 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.300A>C (p.Pro100=) |
single nucleotide variant |
not specified [RCV004281532] |
Chr1:158843313 [GRCh38]
Chr1:158813103 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1196A>T (p.Asn399Ile) |
single nucleotide variant |
not specified [RCV004262829] |
Chr1:158849209 [GRCh38]
Chr1:158818999 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.992G>A (p.Ser331Asn) |
single nucleotide variant |
not specified [RCV004330441] |
Chr1:158847732 [GRCh38]
Chr1:158817522 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.135A>C (p.Arg45Ser) |
single nucleotide variant |
not specified [RCV004330450] |
Chr1:158842288 [GRCh38]
Chr1:158812078 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.797T>A (p.Ile266Asn) |
single nucleotide variant |
not specified [RCV004262826] |
Chr1:158845813 [GRCh38]
Chr1:158815603 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.479G>A (p.Gly160Asp) |
single nucleotide variant |
not specified [RCV004247537] |
Chr1:158844031 [GRCh38]
Chr1:158813821 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.709C>T (p.His237Tyr) |
single nucleotide variant |
not specified [RCV004247538] |
Chr1:158845725 [GRCh38]
Chr1:158815515 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.770A>G (p.Lys257Arg) |
single nucleotide variant |
not specified [RCV004243065] |
Chr1:158845786 [GRCh38]
Chr1:158815576 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1032T>C (p.Asn344=) |
single nucleotide variant |
not specified [RCV004243068] |
Chr1:158847772 [GRCh38]
Chr1:158817562 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.521C>T (p.Pro174Leu) |
single nucleotide variant |
not specified [RCV004243069] |
Chr1:158844073 [GRCh38]
Chr1:158813863 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.643G>A (p.Val215Met) |
single nucleotide variant |
not specified [RCV004243070] |
Chr1:158845659 [GRCh38]
Chr1:158815449 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.151T>C (p.Leu51=) |
single nucleotide variant |
not specified [RCV004247541] |
Chr1:158842304 [GRCh38]
Chr1:158812094 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.668T>G (p.Phe223Cys) |
single nucleotide variant |
not specified [RCV004247542] |
Chr1:158845684 [GRCh38]
Chr1:158815474 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1077C>G (p.Ile359Met) |
single nucleotide variant |
not specified [RCV004281446] |
Chr1:158847817 [GRCh38]
Chr1:158817607 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1036G>A (p.Gly346Arg) |
single nucleotide variant |
not specified [RCV004281447] |
Chr1:158847776 [GRCh38]
Chr1:158817566 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.173G>A (p.Gly58Asp) |
single nucleotide variant |
not specified [RCV004281451] |
Chr1:158842326 [GRCh38]
Chr1:158812116 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.756C>T (p.Phe252=) |
single nucleotide variant |
not specified [RCV004281460] |
Chr1:158845772 [GRCh38]
Chr1:158815562 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.478G>A (p.Gly160Ser) |
single nucleotide variant |
not specified [RCV004281462] |
Chr1:158844030 [GRCh38]
Chr1:158813820 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.587C>T (p.Ala196Val) |
single nucleotide variant |
not specified [RCV004281463] |
Chr1:158845603 [GRCh38]
Chr1:158815393 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.29T>C (p.Leu10Ser) |
single nucleotide variant |
not specified [RCV004281455] |
Chr1:158842182 [GRCh38]
Chr1:158811972 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.73A>G (p.Ile25Val) |
single nucleotide variant |
not specified [RCV004281484] |
Chr1:158842226 [GRCh38]
Chr1:158812016 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.768G>C (p.Leu256Phe) |
single nucleotide variant |
not specified [RCV004281538] |
Chr1:158845784 [GRCh38]
Chr1:158815574 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.424G>A (p.Glu142Lys) |
single nucleotide variant |
not specified [RCV004281544] |
Chr1:158843976 [GRCh38]
Chr1:158813766 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.714T>C (p.Ala238=) |
single nucleotide variant |
not specified [RCV004283390] |
Chr1:158845730 [GRCh38]
Chr1:158815520 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.85C>T (p.Leu29=) |
single nucleotide variant |
not specified [RCV004281533] |
Chr1:158842238 [GRCh38]
Chr1:158812028 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.352G>T (p.Ala118Ser) |
single nucleotide variant |
not specified [RCV004326119] |
Chr1:158843365 [GRCh38]
Chr1:158813155 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.685G>A (p.Glu229Lys) |
single nucleotide variant |
not specified [RCV004326120] |
Chr1:158845701 [GRCh38]
Chr1:158815491 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1115T>G (p.Leu372Arg) |
single nucleotide variant |
not specified [RCV004326122] |
Chr1:158847855 [GRCh38]
Chr1:158817645 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1057A>T (p.Ser353Cys) |
single nucleotide variant |
not specified [RCV004366260] |
Chr1:158847797 [GRCh38]
Chr1:158817587 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.744T>A (p.His248Gln) |
single nucleotide variant |
not specified [RCV004366265] |
Chr1:158845760 [GRCh38]
Chr1:158815550 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1053G>A (p.Val351=) |
single nucleotide variant |
not specified [RCV004366267] |
Chr1:158847793 [GRCh38]
Chr1:158817583 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.518C>G (p.Pro173Arg) |
single nucleotide variant |
not specified [RCV004366266] |
Chr1:158844070 [GRCh38]
Chr1:158813860 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.582C>A (p.Thr194=) |
single nucleotide variant |
not specified [RCV004366258] |
Chr1:158845598 [GRCh38]
Chr1:158815388 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.571A>C (p.Asn191His) |
single nucleotide variant |
not specified [RCV004366259] |
Chr1:158845587 [GRCh38]
Chr1:158815377 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.323A>T (p.Glu108Val) |
single nucleotide variant |
not specified [RCV004366261] |
Chr1:158843336 [GRCh38]
Chr1:158813126 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.132C>G (p.Asn44Lys) |
single nucleotide variant |
not specified [RCV004366262] |
Chr1:158842285 [GRCh38]
Chr1:158812075 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1051G>A (p.Val351Met) |
single nucleotide variant |
not specified [RCV004366263] |
Chr1:158847791 [GRCh38]
Chr1:158817581 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.846A>C (p.Glu282Asp) |
single nucleotide variant |
not specified [RCV004366264] |
Chr1:158845862 [GRCh38]
Chr1:158815652 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.73A>T (p.Ile25Phe) |
single nucleotide variant |
not specified [RCV004366268] |
Chr1:158842226 [GRCh38]
Chr1:158812016 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1046A>G (p.Asp349Gly) |
single nucleotide variant |
not specified [RCV004361861] |
Chr1:158847786 [GRCh38]
Chr1:158817576 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.81C>T (p.Ser27=) |
single nucleotide variant |
not specified [RCV004362074] |
Chr1:158842234 [GRCh38]
Chr1:158812024 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.780T>C (p.Phe260=) |
single nucleotide variant |
not specified [RCV004360242] |
Chr1:158845796 [GRCh38]
Chr1:158815586 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.454T>C (p.Ser152Pro) |
single nucleotide variant |
not specified [RCV004361820] |
Chr1:158844006 [GRCh38]
Chr1:158813796 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.166T>C (p.Phe56Leu) |
single nucleotide variant |
not specified [RCV004361847] |
Chr1:158842319 [GRCh38]
Chr1:158812109 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1136G>T (p.Arg379Leu) |
single nucleotide variant |
not specified [RCV004363743] |
Chr1:158847876 [GRCh38]
Chr1:158817666 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.236T>C (p.Val79Ala) |
single nucleotide variant |
not specified [RCV004363826] |
Chr1:158842389 [GRCh38]
Chr1:158812179 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.500C>A (p.Ser167Tyr) |
single nucleotide variant |
not specified [RCV004360264] |
Chr1:158844052 [GRCh38]
Chr1:158813842 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.299C>T (p.Pro100Leu) |
single nucleotide variant |
not specified [RCV004361828] |
Chr1:158843312 [GRCh38]
Chr1:158813102 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.116T>A (p.Met39Lys) |
single nucleotide variant |
not specified [RCV004361836] |
Chr1:158842269 [GRCh38]
Chr1:158812059 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.13T>C (p.Tyr5His) |
single nucleotide variant |
not specified [RCV004360273] |
Chr1:158842166 [GRCh38]
Chr1:158811956 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1135C>G (p.Arg379Gly) |
single nucleotide variant |
not specified [RCV004361870] |
Chr1:158847875 [GRCh38]
Chr1:158817665 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1134C>A (p.Asp378Glu) |
single nucleotide variant |
not specified [RCV004361874] |
Chr1:158847874 [GRCh38]
Chr1:158817664 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.496A>G (p.Thr166Ala) |
single nucleotide variant |
not specified [RCV004353904] |
Chr1:158844048 [GRCh38]
Chr1:158813838 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 |
copy number loss |
not provided [RCV003483944] |
Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3 |
likely pathogenic |
| GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 |
copy number gain |
not specified [RCV003986717] |
Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_002432.3(MNDA):c.154A>G (p.Met52Val) |
single nucleotide variant |
not specified [RCV004513594] |
Chr1:158842307 [GRCh38]
Chr1:158812097 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.182G>T (p.Cys61Phe) |
single nucleotide variant |
not specified [RCV004513596] |
Chr1:158842335 [GRCh38]
Chr1:158812125 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.382G>T (p.Gly128Trp) |
single nucleotide variant |
not specified [RCV004513604] |
Chr1:158843395 [GRCh38]
Chr1:158813185 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.573T>A (p.Asn191Lys) |
single nucleotide variant |
not specified [RCV004513613] |
Chr1:158845589 [GRCh38]
Chr1:158815379 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.593G>C (p.Arg198Pro) |
single nucleotide variant |
not specified [RCV004513615] |
Chr1:158845609 [GRCh38]
Chr1:158815399 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.822T>C (p.Cys274=) |
single nucleotide variant |
not specified [RCV004513624] |
Chr1:158845838 [GRCh38]
Chr1:158815628 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1203A>G (p.Glu401=) |
single nucleotide variant |
not specified [RCV004513590] |
Chr1:158849216 [GRCh38]
Chr1:158819006 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.142A>G (p.Ile48Val) |
single nucleotide variant |
not specified [RCV004513592] |
Chr1:158842295 [GRCh38]
Chr1:158812085 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.296C>T (p.Ala99Val) |
single nucleotide variant |
not specified [RCV004513600] |
Chr1:158843309 [GRCh38]
Chr1:158813099 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.312A>G (p.Ile104Met) |
single nucleotide variant |
not specified [RCV004513601] |
Chr1:158843325 [GRCh38]
Chr1:158813115 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.408A>G (p.Arg136=) |
single nucleotide variant |
not specified [RCV004513606] |
Chr1:158843960 [GRCh38]
Chr1:158813750 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.446A>G (p.Asn149Ser) |
single nucleotide variant |
not specified [RCV004513607] |
Chr1:158843998 [GRCh38]
Chr1:158813788 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.52G>T (p.Asp18Tyr) |
single nucleotide variant |
not specified [RCV004513612] |
Chr1:158842205 [GRCh38]
Chr1:158811995 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.638C>T (p.Thr213Ile) |
single nucleotide variant |
not specified [RCV004513619] |
Chr1:158845654 [GRCh38]
Chr1:158815444 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.695A>G (p.Lys232Arg) |
single nucleotide variant |
not specified [RCV004513621] |
Chr1:158845711 [GRCh38]
Chr1:158815501 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.799A>G (p.Thr267Ala) |
single nucleotide variant |
not specified [RCV004513622] |
Chr1:158845815 [GRCh38]
Chr1:158815605 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.826G>C (p.Gly276Arg) |
single nucleotide variant |
not specified [RCV004513626] |
Chr1:158845842 [GRCh38]
Chr1:158815632 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.878T>C (p.Phe293Ser) |
single nucleotide variant |
not specified [RCV004513629] |
Chr1:158845894 [GRCh38]
Chr1:158815684 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.919C>T (p.Pro307Ser) |
single nucleotide variant |
not specified [RCV004513631] |
Chr1:158845935 [GRCh38]
Chr1:158815725 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.927C>A (p.Ile309=) |
single nucleotide variant |
not specified [RCV004513632] |
Chr1:158845943 [GRCh38]
Chr1:158815733 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.993C>G (p.Ser331Arg) |
single nucleotide variant |
not specified [RCV004513634] |
Chr1:158847733 [GRCh38]
Chr1:158817523 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1026G>C (p.Gln342His) |
single nucleotide variant |
not specified [RCV004513580] |
Chr1:158847766 [GRCh38]
Chr1:158817556 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1041C>A (p.Ser347=) |
single nucleotide variant |
not specified [RCV004513582] |
Chr1:158847781 [GRCh38]
Chr1:158817571 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1113C>T (p.Cys371=) |
single nucleotide variant |
not specified [RCV004513586] |
Chr1:158847853 [GRCh38]
Chr1:158817643 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1149G>T (p.Leu383=) |
single nucleotide variant |
not specified [RCV004513588] |
Chr1:158847889 [GRCh38]
Chr1:158817679 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.163A>G (p.Lys55Glu) |
single nucleotide variant |
not specified [RCV004513595] |
Chr1:158842316 [GRCh38]
Chr1:158812106 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.497C>T (p.Thr166Ile) |
single nucleotide variant |
not specified [RCV004513611] |
Chr1:158844049 [GRCh38]
Chr1:158813839 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.600G>A (p.Val200=) |
single nucleotide variant |
not specified [RCV004513616] |
Chr1:158845616 [GRCh38]
Chr1:158815406 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.619C>T (p.Pro207Ser) |
single nucleotide variant |
not specified [RCV004513617] |
Chr1:158845635 [GRCh38]
Chr1:158815425 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.825A>T (p.Lys275Asn) |
single nucleotide variant |
not specified [RCV004513625] |
Chr1:158845841 [GRCh38]
Chr1:158815631 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.913A>C (p.Lys305Gln) |
single nucleotide variant |
not specified [RCV004513630] |
Chr1:158845929 [GRCh38]
Chr1:158815719 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1060G>C (p.Gly354Arg) |
single nucleotide variant |
not specified [RCV004513584] |
Chr1:158847800 [GRCh38]
Chr1:158817590 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.115A>G (p.Met39Val) |
single nucleotide variant |
not specified [RCV004513589] |
Chr1:158842268 [GRCh38]
Chr1:158812058 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.189C>A (p.Asp63Glu) |
single nucleotide variant |
not specified [RCV004513597] |
Chr1:158842342 [GRCh38]
Chr1:158812132 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.271A>G (p.Lys91Glu) |
single nucleotide variant |
not specified [RCV004513598] |
Chr1:158843284 [GRCh38]
Chr1:158813074 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.342T>C (p.Pro114=) |
single nucleotide variant |
not specified [RCV004513603] |
Chr1:158843355 [GRCh38]
Chr1:158813145 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.474C>A (p.Pro158=) |
single nucleotide variant |
not specified [RCV004513609] |
Chr1:158844026 [GRCh38]
Chr1:158813816 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.678G>A (p.Glu226=) |
single nucleotide variant |
not specified [RCV004513620] |
Chr1:158845694 [GRCh38]
Chr1:158815484 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.850T>A (p.Ser284Thr) |
single nucleotide variant |
not specified [RCV004513627] |
Chr1:158845866 [GRCh38]
Chr1:158815656 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.854C>T (p.Ser285Phe) |
single nucleotide variant |
not specified [RCV004513628] |
Chr1:158845870 [GRCh38]
Chr1:158815660 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1012A>G (p.Ile338Val) |
single nucleotide variant |
not specified [RCV004513579] |
Chr1:158847752 [GRCh38]
Chr1:158817542 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.107C>G (p.Thr36Ser) |
single nucleotide variant |
not specified [RCV004513585] |
Chr1:158842260 [GRCh38]
Chr1:158812050 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.148G>A (p.Asp50Asn) |
single nucleotide variant |
not specified [RCV004513593] |
Chr1:158842301 [GRCh38]
Chr1:158812091 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.341C>T (p.Pro114Leu) |
single nucleotide variant |
not specified [RCV004513602] |
Chr1:158843354 [GRCh38]
Chr1:158813144 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.384G>C (p.Gly128=) |
single nucleotide variant |
not specified [RCV004513605] |
Chr1:158843397 [GRCh38]
Chr1:158813187 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.496A>T (p.Thr166Ser) |
single nucleotide variant |
not specified [RCV004513610] |
Chr1:158844048 [GRCh38]
Chr1:158813838 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
not specified [RCV004513618] |
Chr1:158845648 [GRCh38]
Chr1:158815438 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.820T>G (p.Cys274Gly) |
single nucleotide variant |
not specified [RCV004513623] |
Chr1:158845836 [GRCh38]
Chr1:158815626 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.992G>C (p.Ser331Thr) |
single nucleotide variant |
not specified [RCV004513633] |
Chr1:158847732 [GRCh38]
Chr1:158817522 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1028A>T (p.Asp343Val) |
single nucleotide variant |
not specified [RCV004513581] |
Chr1:158847768 [GRCh38]
Chr1:158817558 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1138A>G (p.Lys380Glu) |
single nucleotide variant |
not specified [RCV004513587] |
Chr1:158847878 [GRCh38]
Chr1:158817668 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.289G>A (p.Glu97Lys) |
single nucleotide variant |
not specified [RCV004513599] |
Chr1:158843302 [GRCh38]
Chr1:158813092 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.451G>A (p.Val151Met) |
single nucleotide variant |
not specified [RCV004513608] |
Chr1:158844003 [GRCh38]
Chr1:158813793 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.58T>C (p.Tyr20His) |
single nucleotide variant |
not specified [RCV004513614] |
Chr1:158842211 [GRCh38]
Chr1:158812001 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.306A>C (p.Lys102Asn) |
single nucleotide variant |
not specified [RCV004476201] |
Chr1:158843319 [GRCh38]
Chr1:158813109 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 |
copy number gain |
not provided [RCV004577444] |
Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2 |
likely pathogenic |
| NM_002432.3(MNDA):c.676G>A (p.Glu226Lys) |
single nucleotide variant |
not specified [RCV004476282] |
Chr1:158845692 [GRCh38]
Chr1:158815482 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.250A>C (p.Lys84Gln) |
single nucleotide variant |
not specified [RCV004643245] |
Chr1:158842403 [GRCh38]
Chr1:158812193 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.847G>T (p.Ala283Ser) |
single nucleotide variant |
not specified [RCV004643246] |
Chr1:158845863 [GRCh38]
Chr1:158815653 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.572A>G (p.Asn191Ser) |
single nucleotide variant |
not specified [RCV004643217] |
Chr1:158845588 [GRCh38]
Chr1:158815378 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.946G>A (p.Ala316Thr) |
single nucleotide variant |
not specified [RCV004643224] |
Chr1:158845962 [GRCh38]
Chr1:158815752 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.721G>A (p.Ala241Thr) |
single nucleotide variant |
not specified [RCV004643227] |
Chr1:158845737 [GRCh38]
Chr1:158815527 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.602A>T (p.Asp201Val) |
single nucleotide variant |
not specified [RCV004643231] |
Chr1:158845618 [GRCh38]
Chr1:158815408 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.209A>G (p.Lys70Arg) |
single nucleotide variant |
not specified [RCV004643240] |
Chr1:158842362 [GRCh38]
Chr1:158812152 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_158581054)_(158819027_?)del |
deletion |
not provided [RCV004579114] |
Chr1:158581054..158819027 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002432.3(MNDA):c.1072A>C (p.Asn358His) |
single nucleotide variant |
not specified [RCV004629029] |
Chr1:158847812 [GRCh38]
Chr1:158817602 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.550T>A (p.Ser184Thr) |
single nucleotide variant |
not specified [RCV004629030] |
Chr1:158844102 [GRCh38]
Chr1:158813892 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.351C>A (p.Thr117=) |
single nucleotide variant |
not specified [RCV004643220] |
Chr1:158843364 [GRCh38]
Chr1:158813154 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.497C>G (p.Thr166Arg) |
single nucleotide variant |
not specified [RCV004643221] |
Chr1:158844049 [GRCh38]
Chr1:158813839 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1007A>G (p.Asn336Ser) |
single nucleotide variant |
not specified [RCV004643225] |
Chr1:158847747 [GRCh38]
Chr1:158817537 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.309A>T (p.Lys103Asn) |
single nucleotide variant |
not specified [RCV004643228] |
Chr1:158843322 [GRCh38]
Chr1:158813112 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.39A>T (p.Gly13=) |
single nucleotide variant |
not specified [RCV004643229] |
Chr1:158842192 [GRCh38]
Chr1:158811982 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.239A>G (p.Asn80Ser) |
single nucleotide variant |
not specified [RCV004643238] |
Chr1:158842392 [GRCh38]
Chr1:158812182 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.978G>A (p.Met326Ile) |
single nucleotide variant |
not specified [RCV004643249] |
Chr1:158845994 [GRCh38]
Chr1:158815784 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.556A>T (p.Thr186Ser) |
single nucleotide variant |
not specified [RCV004643243] |
Chr1:158844108 [GRCh38]
Chr1:158813898 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.288A>G (p.Gln96=) |
single nucleotide variant |
not specified [RCV004643232] |
Chr1:158843301 [GRCh38]
Chr1:158813091 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.766T>C (p.Leu256=) |
single nucleotide variant |
not specified [RCV004643233] |
Chr1:158845782 [GRCh38]
Chr1:158815572 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1058G>A (p.Ser353Asn) |
single nucleotide variant |
not specified [RCV004643250] |
Chr1:158847798 [GRCh38]
Chr1:158817588 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1095T>C (p.Asp365=) |
single nucleotide variant |
not specified [RCV004643222] |
Chr1:158847835 [GRCh38]
Chr1:158817625 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.544A>G (p.Thr182Ala) |
single nucleotide variant |
not specified [RCV004643223] |
Chr1:158844096 [GRCh38]
Chr1:158813886 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.937T>C (p.Tyr313His) |
single nucleotide variant |
not specified [RCV004643234] |
Chr1:158845953 [GRCh38]
Chr1:158815743 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.803T>C (p.Ile268Thr) |
single nucleotide variant |
not specified [RCV004643236] |
Chr1:158845819 [GRCh38]
Chr1:158815609 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.134G>A (p.Arg45Lys) |
single nucleotide variant |
not specified [RCV004643239] |
Chr1:158842287 [GRCh38]
Chr1:158812077 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.640G>C (p.Val214Leu) |
single nucleotide variant |
not specified [RCV004643241] |
Chr1:158845656 [GRCh38]
Chr1:158815446 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.327G>T (p.Val109=) |
single nucleotide variant |
not specified [RCV004643242] |
Chr1:158843340 [GRCh38]
Chr1:158813130 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.266T>G (p.Val89Gly) |
single nucleotide variant |
not specified [RCV004643247] |
Chr1:158843279 [GRCh38]
Chr1:158813069 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.821G>A (p.Cys274Tyr) |
single nucleotide variant |
not specified [RCV004643248] |
Chr1:158845837 [GRCh38]
Chr1:158815627 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.170A>G (p.Gln57Arg) |
single nucleotide variant |
not specified [RCV004643219] |
Chr1:158842323 [GRCh38]
Chr1:158812113 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.542C>T (p.Ser181Leu) |
single nucleotide variant |
not specified [RCV004643226] |
Chr1:158844094 [GRCh38]
Chr1:158813884 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1169T>C (p.Phe390Ser) |
single nucleotide variant |
not specified [RCV004643230] |
Chr1:158847909 [GRCh38]
Chr1:158817699 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.782T>C (p.Val261Ala) |
single nucleotide variant |
not specified [RCV004643235] |
Chr1:158845798 [GRCh38]
Chr1:158815588 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.298C>T (p.Pro100Ser) |
single nucleotide variant |
not specified [RCV004629025] |
Chr1:158843311 [GRCh38]
Chr1:158813101 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.398C>T (p.Ala133Val) |
single nucleotide variant |
not specified [RCV004629026] |
Chr1:158843411 [GRCh38]
Chr1:158813201 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.22A>G (p.Ile8Val) |
single nucleotide variant |
not specified [RCV004629027] |
Chr1:158842175 [GRCh38]
Chr1:158811965 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.699C>T (p.Ser233=) |
single nucleotide variant |
not specified [RCV004629031] |
Chr1:158845715 [GRCh38]
Chr1:158815505 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.586G>A (p.Ala196Thr) |
single nucleotide variant |
not specified [RCV004629032] |
Chr1:158845602 [GRCh38]
Chr1:158815392 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.706T>C (p.Phe236Leu) |
single nucleotide variant |
not specified [RCV004629033] |
Chr1:158845722 [GRCh38]
Chr1:158815512 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.804A>G (p.Ile268Met) |
single nucleotide variant |
not specified [RCV004825741] |
Chr1:158845820 [GRCh38]
Chr1:158815610 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.814T>C (p.Ser272Pro) |
single nucleotide variant |
not specified [RCV004825766] |
Chr1:158845830 [GRCh38]
Chr1:158815620 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.87G>A (p.Leu29=) |
single nucleotide variant |
not specified [RCV004824651] |
Chr1:158842240 [GRCh38]
Chr1:158812030 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.602A>C (p.Asp201Ala) |
single nucleotide variant |
not specified [RCV004824653] |
Chr1:158845618 [GRCh38]
Chr1:158815408 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.340C>T (p.Pro114Ser) |
single nucleotide variant |
not specified [RCV004825743] |
Chr1:158843353 [GRCh38]
Chr1:158813143 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.475C>T (p.Pro159Ser) |
single nucleotide variant |
not specified [RCV004825746] |
Chr1:158844027 [GRCh38]
Chr1:158813817 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.23T>C (p.Ile8Thr) |
single nucleotide variant |
not specified [RCV004825747] |
Chr1:158842176 [GRCh38]
Chr1:158811966 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.704T>G (p.Met235Arg) |
single nucleotide variant |
not specified [RCV004825749] |
Chr1:158845720 [GRCh38]
Chr1:158815510 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.938A>G (p.Tyr313Cys) |
single nucleotide variant |
not specified [RCV004825756] |
Chr1:158845954 [GRCh38]
Chr1:158815744 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.935T>C (p.Leu312Pro) |
single nucleotide variant |
not specified [RCV004825763] |
Chr1:158845951 [GRCh38]
Chr1:158815741 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.963G>T (p.Val321=) |
single nucleotide variant |
not specified [RCV004825768] |
Chr1:158845979 [GRCh38]
Chr1:158815769 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.908C>G (p.Ala303Gly) |
single nucleotide variant |
not specified [RCV004825769] |
Chr1:158845924 [GRCh38]
Chr1:158815714 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.511G>A (p.Asp171Asn) |
single nucleotide variant |
not specified [RCV004825772] |
Chr1:158844063 [GRCh38]
Chr1:158813853 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.702A>G (p.Thr234=) |
single nucleotide variant |
not specified [RCV004825757] |
Chr1:158845718 [GRCh38]
Chr1:158815508 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.897T>A (p.Ile299=) |
single nucleotide variant |
not specified [RCV004825758] |
Chr1:158845913 [GRCh38]
Chr1:158815703 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.1153T>C (p.Cys385Arg) |
single nucleotide variant |
not specified [RCV004825767] |
Chr1:158847893 [GRCh38]
Chr1:158817683 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.711T>C (p.His237=) |
single nucleotide variant |
not specified [RCV004825770] |
Chr1:158845727 [GRCh38]
Chr1:158815517 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.491C>T (p.Ala164Val) |
single nucleotide variant |
not specified [RCV004825745] |
Chr1:158844043 [GRCh38]
Chr1:158813833 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.134G>C (p.Arg45Thr) |
single nucleotide variant |
not specified [RCV004825748] |
Chr1:158842287 [GRCh38]
Chr1:158812077 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.76A>C (p.Lys26Gln) |
single nucleotide variant |
not specified [RCV004825752] |
Chr1:158842229 [GRCh38]
Chr1:158812019 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.120A>G (p.Gln40=) |
single nucleotide variant |
not specified [RCV004825759] |
Chr1:158842273 [GRCh38]
Chr1:158812063 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.657A>T (p.Ala219=) |
single nucleotide variant |
not specified [RCV004825761] |
Chr1:158845673 [GRCh38]
Chr1:158815463 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.70T>A (p.Ser24Thr) |
single nucleotide variant |
not specified [RCV004825771] |
Chr1:158842223 [GRCh38]
Chr1:158812013 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.879T>C (p.Phe293=) |
single nucleotide variant |
not specified [RCV004824652] |
Chr1:158845895 [GRCh38]
Chr1:158815685 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.212A>T (p.Asp71Val) |
single nucleotide variant |
not specified [RCV004824648] |
Chr1:158842365 [GRCh38]
Chr1:158812155 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1009A>G (p.Thr337Ala) |
single nucleotide variant |
not specified [RCV004824649] |
Chr1:158847749 [GRCh38]
Chr1:158817539 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.465G>C (p.Gln155His) |
single nucleotide variant |
not specified [RCV004824654] |
Chr1:158844017 [GRCh38]
Chr1:158813807 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.24T>G (p.Ile8Met) |
single nucleotide variant |
not specified [RCV004825744] |
Chr1:158842177 [GRCh38]
Chr1:158811967 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.958A>T (p.Met320Leu) |
single nucleotide variant |
not specified [RCV004825750] |
Chr1:158845974 [GRCh38]
Chr1:158815764 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.102A>G (p.Gly34=) |
single nucleotide variant |
not specified [RCV004825754] |
Chr1:158842255 [GRCh38]
Chr1:158812045 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.898A>C (p.Ile300Leu) |
single nucleotide variant |
not specified [RCV004825755] |
Chr1:158845914 [GRCh38]
Chr1:158815704 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.329G>A (p.Gly110Asp) |
single nucleotide variant |
not specified [RCV004825760] |
Chr1:158843342 [GRCh38]
Chr1:158813132 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.591A>G (p.Gln197=) |
single nucleotide variant |
not specified [RCV004825762] |
Chr1:158845607 [GRCh38]
Chr1:158815397 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002432.3(MNDA):c.800C>G (p.Thr267Ser) |
single nucleotide variant |
not specified [RCV004825764] |
Chr1:158845816 [GRCh38]
Chr1:158815606 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.860C>T (p.Ser287Phe) |
single nucleotide variant |
not specified [RCV004825765] |
Chr1:158845876 [GRCh38]
Chr1:158815666 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.497C>A (p.Thr166Lys) |
single nucleotide variant |
not specified [RCV004825742] |
Chr1:158844049 [GRCh38]
Chr1:158813839 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.473C>T (p.Pro158Leu) |
single nucleotide variant |
not specified [RCV004824650] |
Chr1:158844025 [GRCh38]
Chr1:158813815 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1079A>T (p.Lys360Met) |
single nucleotide variant |
not specified [RCV004825751] |
Chr1:158847819 [GRCh38]
Chr1:158817609 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002432.3(MNDA):c.1115T>C (p.Leu372Pro) |
single nucleotide variant |
not specified [RCV004825753] |
Chr1:158847855 [GRCh38]
Chr1:158817645 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
