NM_004713.4(NEMF):c.902C>T (p.Ser301Phe) |
single nucleotide variant |
Malignant melanoma [RCV000070542] |
Chr14:49831342 [GRCh38] Chr14:50298060 [GRCh37] Chr14:49367810 [NCBI36] Chr14:14q21.3 |
not provided |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 |
copy number gain |
See cases [RCV000140717] |
Chr14:39196172..56714461 [GRCh38] Chr14:39665376..57181179 [GRCh37] Chr14:38735127..56250932 [NCBI36] Chr14:14q21.1-22.3 |
likely pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
NM_004713.6(NEMF):c.2431_2432del (p.Gln811fs) |
microsatellite |
Malignant tumor of prostate [RCV000204354] |
Chr14:49799508..49799509 [GRCh38] Chr14:50266226..50266227 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.161C>A (p.Ser54Tyr) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001374555] |
Chr14:49851633 [GRCh38] Chr14:50318351 [GRCh37] Chr14:14q21.3 |
uncertain significance |
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 |
copy number gain |
See cases [RCV000447658] |
Chr14:23164384..54733411 [GRCh37] Chr14:14q11.2-22.2 |
pathogenic |
GRCh37/hg19 14q21.3(chr14:50176512-50298072)x3 |
copy number gain |
See cases [RCV000446889] |
Chr14:50176512..50298072 [GRCh37] Chr14:14q21.3 |
uncertain significance |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_004713.6(NEMF):c.527G>A (p.Ser176Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003272491] |
Chr14:49838186 [GRCh38] Chr14:50304904 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2987C>T (p.Ala996Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003280651] |
Chr14:49785262 [GRCh38] Chr14:50251980 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2573C>T (p.Thr858Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003254595] |
Chr14:49795837 [GRCh38] Chr14:50262555 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_014315.3(KLHDC2):c.1147T>C (p.Trp383Arg) |
single nucleotide variant |
not specified [RCV004315326] |
Chr14:49782879 [GRCh38] Chr14:50249597 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2681T>C (p.Ile894Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003296602] |
Chr14:49789512 [GRCh38] Chr14:50256230 [GRCh37] Chr14:14q21.3 |
uncertain significance |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_004713.6(NEMF):c.225C>G (p.Ala75=) |
single nucleotide variant |
NEMF-related disorder [RCV003913302]|not provided [RCV000950229] |
Chr14:49851569 [GRCh38] Chr14:50318287 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.600C>T (p.His200=) |
single nucleotide variant |
NEMF-related disorder [RCV003970498]|not provided [RCV000922434] |
Chr14:49834424 [GRCh38] Chr14:50301142 [GRCh37] Chr14:14q21.3 |
benign|likely benign |
NC_000014.8:g.(?_50092240)_(50698021_?)dup |
duplication |
Noonan syndrome 9 [RCV000799423] |
Chr14:49625522..50231303 [GRCh38] Chr14:50092240..50698021 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.3126A>G (p.Arg1042=) |
single nucleotide variant |
NEMF-related disorder [RCV003926128]|not provided [RCV000960592] |
Chr14:49784952 [GRCh38] Chr14:50251670 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.980G>A (p.Arg327Gln) |
single nucleotide variant |
not provided [RCV001250467] |
Chr14:49829392 [GRCh38] Chr14:50296110 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2768del (p.Lys923fs) |
deletion |
not provided [RCV001250471] |
Chr14:49789273 [GRCh38] Chr14:50255991 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.2011C>T (p.Arg671Ter) |
single nucleotide variant |
not provided [RCV001250469] |
Chr14:49802537 [GRCh38] Chr14:50269255 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.1040A>G (p.Lys347Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003246252] |
Chr14:49829246 [GRCh38] Chr14:50295964 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1649A>G (p.Asn550Ser) |
single nucleotide variant |
not provided [RCV002464730] |
Chr14:49814786 [GRCh38] Chr14:50281504 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2283G>A (p.Gln761=) |
single nucleotide variant |
not provided [RCV004809477] |
Chr14:49800509 [GRCh38] Chr14:50267227 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1684G>A (p.Asp562Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003271878] |
Chr14:49814048 [GRCh38] Chr14:50280766 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.348C>T (p.Leu116=) |
single nucleotide variant |
not provided [RCV004809488] |
Chr14:49846149 [GRCh38] Chr14:50312867 [GRCh37] Chr14:14q21.3 |
likely benign |
GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3 |
copy number gain |
not provided [RCV001006632] |
Chr14:50317272..51627752 [GRCh37] Chr14:14q21.3-22.1 |
uncertain significance |
NM_004713.6(NEMF):c.1A>T (p.Met1Leu) |
single nucleotide variant |
not provided [RCV001250470] |
Chr14:49852753 [GRCh38] Chr14:50319471 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.2777C>T (p.Pro926Leu) |
single nucleotide variant |
not provided [RCV001250466] |
Chr14:49789264 [GRCh38] Chr14:50255982 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
NM_004713.6(NEMF):c.807-2A>C |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267817]|See cases [RCV001198080] |
Chr14:49832128 [GRCh38] Chr14:50298846 [GRCh37] Chr14:14q21.3 |
pathogenic|likely pathogenic |
NM_004713.6(NEMF):c.2871_2875dup (p.Asp959delinsValTer) |
duplication |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267815]|See cases [RCV003313206] |
Chr14:49789165..49789166 [GRCh38] Chr14:50255883..50255884 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.1234_1235insC (p.Asn412fs) |
insertion |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267818] |
Chr14:49828805..49828806 [GRCh38] Chr14:50295523..50295524 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.2618del (p.Lys873fs) |
deletion |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267816] |
Chr14:49795792 [GRCh38] Chr14:50262510 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.574+1G>T |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001283802] |
Chr14:49838138 [GRCh38] Chr14:50304856 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
NM_004713.6(NEMF):c.1235_1236insC (p.Pro413fs) |
insertion |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001281347] |
Chr14:49828804..49828805 [GRCh38] Chr14:50295522..50295523 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.438del (p.Lys146fs) |
deletion |
not provided [RCV002251677] |
Chr14:49840786 [GRCh38] Chr14:50307504 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
NM_004713.6(NEMF):c.2068del (p.Leu690fs) |
deletion |
not provided [RCV003238401] |
Chr14:49802480 [GRCh38] Chr14:50269198 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.1710T>C (p.His570=) |
single nucleotide variant |
not provided [RCV001816136] |
Chr14:49814022 [GRCh38] Chr14:50280740 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.639G>C (p.Val213=) |
single nucleotide variant |
not provided [RCV004809170] |
Chr14:49834385 [GRCh38] Chr14:50301103 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.2096-2A>G |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001814944] |
Chr14:49800698 [GRCh38] Chr14:50267416 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931) |
copy number gain |
not specified [RCV002053098] |
Chr14:45827312..50529931 [GRCh37] Chr14:14q21.2-21.3 |
uncertain significance |
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del |
deletion |
Brain-lung-thyroid syndrome [RCV002221171] |
Chr14:36986276..36987308 [GRCh37] Chr14:14q11.2-21.3 |
pathogenic |
NM_004713.6(NEMF):c.2943_2950del (p.Ser982fs) |
deletion |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV003131043] |
Chr14:49785299..49785306 [GRCh38] Chr14:50252017..50252024 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
NM_004713.6(NEMF):c.2489C>T (p.Pro830Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003277149] |
Chr14:49795921 [GRCh38] Chr14:50262639 [GRCh37] Chr14:14q21.3 |
uncertain significance |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
NM_004713.6(NEMF):c.1744+6A>G |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV002266587] |
Chr14:49813982 [GRCh38] Chr14:50280700 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.556G>A (p.Val186Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003285574] |
Chr14:49838157 [GRCh38] Chr14:50304875 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.488C>A (p.Pro163His) |
single nucleotide variant |
Inborn genetic diseases [RCV002905520] |
Chr14:49840736 [GRCh38] Chr14:50307454 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1370A>G (p.Lys457Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002773916] |
Chr14:49828670 [GRCh38] Chr14:50295388 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_014315.3(KLHDC2):c.982G>A (p.Asp328Asn) |
single nucleotide variant |
not specified [RCV004181134] |
Chr14:49782395 [GRCh38] Chr14:50249113 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2398G>C (p.Glu800Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002689762] |
Chr14:49799653 [GRCh38] Chr14:50266371 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2353T>C (p.Ser785Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002733443]|Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV003992738] |
Chr14:49800439 [GRCh38] Chr14:50267157 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2924A>T (p.Asn975Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002683970] |
Chr14:49786722 [GRCh38] Chr14:50253440 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2020dup (p.Arg674fs) |
duplication |
Inborn genetic diseases [RCV002774482] |
Chr14:49802527..49802528 [GRCh38] Chr14:50269245..50269246 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.2845A>G (p.Ile949Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002728519] |
Chr14:49789196 [GRCh38] Chr14:50255914 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.782A>G (p.Asp261Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002779321] |
Chr14:49832231 [GRCh38] Chr14:50298949 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.991G>A (p.Glu331Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002689093] |
Chr14:49829381 [GRCh38] Chr14:50296099 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.3102G>A (p.Met1034Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002848868] |
Chr14:49784976 [GRCh38] Chr14:50251694 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.3161A>G (p.Asp1054Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002998186] |
Chr14:49784706 [GRCh38] Chr14:50251424 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1410T>G (p.Tyr470Ter) |
single nucleotide variant |
not provided [RCV003037188] |
Chr14:49828630 [GRCh38] Chr14:50295348 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.3103C>T (p.His1035Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002845950] |
Chr14:49784975 [GRCh38] Chr14:50251693 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2108C>T (p.Thr703Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002910808] |
Chr14:49800684 [GRCh38] Chr14:50267402 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_014315.3(KLHDC2):c.1152C>A (p.Asn384Lys) |
single nucleotide variant |
not specified [RCV004114350] |
Chr14:49782884 [GRCh38] Chr14:50249602 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_014315.3(KLHDC2):c.1096C>T (p.Arg366Trp) |
single nucleotide variant |
not specified [RCV004206032] |
Chr14:49782593 [GRCh38] Chr14:50249311 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1271_1276del (p.Val424_Asp425del) |
deletion |
Inborn genetic diseases [RCV002697658] |
Chr14:49828764..49828769 [GRCh38] Chr14:50295482..50295487 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1285A>C (p.Asn429His) |
single nucleotide variant |
Inborn genetic diseases [RCV002983886] |
Chr14:49828755 [GRCh38] Chr14:50295473 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.625G>A (p.Gly209Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002892133] |
Chr14:49834399 [GRCh38] Chr14:50301117 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2261A>G (p.Tyr754Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002930618] |
Chr14:49800531 [GRCh38] Chr14:50267249 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2917C>G (p.Gln973Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002673257] |
Chr14:49786729 [GRCh38] Chr14:50253447 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1245G>C (p.Leu415Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002648785] |
Chr14:49828795 [GRCh38] Chr14:50295513 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.578A>G (p.Tyr193Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002717552] |
Chr14:49834446 [GRCh38] Chr14:50301164 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.166A>G (p.Ile56Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002673620] |
Chr14:49851628 [GRCh38] Chr14:50318346 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2484dup (p.Leu829fs) |
duplication |
not provided [RCV002963243] |
Chr14:49795925..49795926 [GRCh38] Chr14:50262643..50262644 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.517del (p.Glu172_Ile173insTer) |
deletion |
Inborn genetic diseases [RCV002703111] |
Chr14:49838196 [GRCh38] Chr14:50304914 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.3119C>T (p.Thr1040Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002934730] |
Chr14:49784959 [GRCh38] Chr14:50251677 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2071A>G (p.Ile691Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002808810] |
Chr14:49802477 [GRCh38] Chr14:50269195 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2101G>C (p.Gly701Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002809873] |
Chr14:49800691 [GRCh38] Chr14:50267409 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2317G>A (p.Glu773Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002746939] |
Chr14:49800475 [GRCh38] Chr14:50267193 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1334_1337del (p.Gln445fs) |
deletion |
not provided [RCV003069013] |
Chr14:49828703..49828706 [GRCh38] Chr14:50295421..50295424 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.673G>C (p.Val225Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002722772] |
Chr14:49833485 [GRCh38] Chr14:50300203 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.832T>A (p.Phe278Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003277548] |
Chr14:49832101 [GRCh38] Chr14:50298819 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.3195G>T (p.Val1065=) |
single nucleotide variant |
not provided [RCV003393415] |
Chr14:49784672 [GRCh38] Chr14:50251390 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.2514G>A (p.Ala838=) |
single nucleotide variant |
not provided [RCV003393416] |
Chr14:49795896 [GRCh38] Chr14:50262614 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.2333C>T (p.Pro778Leu) |
single nucleotide variant |
not provided [RCV004781271] |
Chr14:49800459 [GRCh38] Chr14:50267177 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.836C>T (p.Ser279Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003210302] |
Chr14:49832097 [GRCh38] Chr14:50298815 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.914G>A (p.Gly305Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003173361] |
Chr14:49831330 [GRCh38] Chr14:50298048 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1132A>G (p.Ile378Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003197871] |
Chr14:49829154 [GRCh38] Chr14:50295872 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.884C>T (p.Ala295Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003200106] |
Chr14:49831360 [GRCh38] Chr14:50298078 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.8G>T (p.Ser3Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003201106] |
Chr14:49852746 [GRCh38] Chr14:50319464 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.3101T>C (p.Met1034Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003309805] |
Chr14:49784977 [GRCh38] Chr14:50251695 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.662A>T (p.Asp221Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003263112] |
Chr14:49833496 [GRCh38] Chr14:50300214 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.235C>T (p.Arg79Ter) |
single nucleotide variant |
not provided [RCV003319637] |
Chr14:49846262 [GRCh38] Chr14:50312980 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
NM_004713.6(NEMF):c.1dup (p.Met1fs) |
duplication |
not provided [RCV003328734] |
Chr14:49852752..49852753 [GRCh38] Chr14:50319470..50319471 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1409A>T (p.Tyr470Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003373745] |
Chr14:49828631 [GRCh38] Chr14:50295349 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1231A>G (p.Arg411Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003368522] |
Chr14:49829055 [GRCh38] Chr14:50295773 [GRCh37] Chr14:14q21.3 |
uncertain significance |
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 |
copy number gain |
not provided [RCV003485022] |
Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1 |
pathogenic |
NM_004713.6(NEMF):c.1745-1265_1745-1260del |
deletion |
not provided [RCV003393418] |
Chr14:49807393..49807398 [GRCh38] Chr14:50274111..50274116 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.2565T>C (p.His855=) |
single nucleotide variant |
not provided [RCV003390391] |
Chr14:49795845 [GRCh38] Chr14:50262563 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.454C>T (p.Arg152Cys) |
single nucleotide variant |
not provided [RCV003390392] |
Chr14:49840770 [GRCh38] Chr14:50307488 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.33C>T (p.Arg11=) |
single nucleotide variant |
not provided [RCV003390393] |
Chr14:49852721 [GRCh38] Chr14:50319439 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1745-1267T>C |
single nucleotide variant |
not provided [RCV003393419] |
Chr14:49807400 [GRCh38] Chr14:50274118 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.1336_1340del (p.Gln445_Lys446insTer) |
deletion |
NEMF-related disorder [RCV003402446] |
Chr14:49828700..49828704 [GRCh38] Chr14:50295418..50295422 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
NM_004713.6(NEMF):c.1858-8T>A |
single nucleotide variant |
NEMF-related disorder [RCV003966360]|not provided [RCV003393417] |
Chr14:49803302 [GRCh38] Chr14:50270020 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1915+8C>T |
single nucleotide variant |
NEMF-related disorder [RCV003939273]|not provided [RCV003886241] |
Chr14:49803229 [GRCh38] Chr14:50269947 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.1232+4A>G |
single nucleotide variant |
NEMF-related disorder [RCV003939418] |
Chr14:49829050 [GRCh38] Chr14:50295768 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1158G>A (p.Gln386=) |
single nucleotide variant |
NEMF-related disorder [RCV003939587] |
Chr14:49829128 [GRCh38] Chr14:50295846 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1757C>T (p.Pro586Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004486209] |
Chr14:49806121 [GRCh38] Chr14:50272839 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1975G>A (p.Val659Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004486216] |
Chr14:49802573 [GRCh38] Chr14:50269291 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1750C>T (p.Pro584Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004486206] |
Chr14:49806128 [GRCh38] Chr14:50272846 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2786C>T (p.Pro929Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004486258] |
Chr14:49789255 [GRCh38] Chr14:50255973 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.358-7A>G |
single nucleotide variant |
NEMF-related disorder [RCV003917403] |
Chr14:49840873 [GRCh38] Chr14:50307591 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.1183G>A (p.Ala395Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004486175] |
Chr14:49829103 [GRCh38] Chr14:50295821 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1426T>C (p.Tyr476His) |
single nucleotide variant |
Inborn genetic diseases [RCV004486199] |
Chr14:49828353 [GRCh38] Chr14:50295071 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1876A>G (p.Thr626Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004486213] |
Chr14:49803276 [GRCh38] Chr14:50269994 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.623C>T (p.Ser208Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004486304] |
Chr14:49834401 [GRCh38] Chr14:50301119 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1066C>T (p.Gln356Ter) |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV003988280] |
Chr14:49829220 [GRCh38] Chr14:50295938 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.23T>C (p.Ile8Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004486239] |
Chr14:49852731 [GRCh38] Chr14:50319449 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2876A>G (p.Asp959Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004486266] |
Chr14:49789165 [GRCh38] Chr14:50255883 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.743T>C (p.Ile248Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004486310] |
Chr14:49832270 [GRCh38] Chr14:50298988 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1446T>C (p.Tyr482=) |
single nucleotide variant |
NEMF-related disorder [RCV003958978] |
Chr14:49828333 [GRCh38] Chr14:50295051 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1752C>T (p.Pro584=) |
single nucleotide variant |
NEMF-related disorder [RCV003924221]|not provided [RCV004546828] |
Chr14:49806126 [GRCh38] Chr14:50272844 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1512A>G (p.Lys504=) |
single nucleotide variant |
NEMF-related disorder [RCV003911387] |
Chr14:49825932 [GRCh38] Chr14:50292650 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.2832G>A (p.Pro944=) |
single nucleotide variant |
NEMF-related disorder [RCV003976765] |
Chr14:49789209 [GRCh38] Chr14:50255927 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.232-9T>C |
single nucleotide variant |
NEMF-related disorder [RCV003919710] |
Chr14:49846274 [GRCh38] Chr14:50312992 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.1755C>A (p.Ile585=) |
single nucleotide variant |
NEMF-related disorder [RCV003932187]|not provided [RCV004721779] |
Chr14:49806123 [GRCh38] Chr14:50272841 [GRCh37] Chr14:14q21.3 |
benign |
NM_004713.6(NEMF):c.846A>C (p.Ser282=) |
single nucleotide variant |
NEMF-related disorder [RCV003934209]|not provided [RCV004573432] |
Chr14:49832087 [GRCh38] Chr14:50298805 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.2936T>C (p.Leu979Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004486275] |
Chr14:49785313 [GRCh38] Chr14:50252031 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2451A>T (p.Ser817=) |
single nucleotide variant |
NEMF-related disorder [RCV003894746] |
Chr14:49799489 [GRCh38] Chr14:50266207 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.2804T>A (p.Val935Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004641507] |
Chr14:49789237 [GRCh38] Chr14:50255955 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1717A>G (p.Thr573Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004641508] |
Chr14:49814015 [GRCh38] Chr14:50280733 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.119G>A (p.Arg40His) |
single nucleotide variant |
Inborn genetic diseases [RCV004641506] |
Chr14:49851816 [GRCh38] Chr14:50318534 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2587dup (p.Ala863fs) |
duplication |
not provided [RCV004729193] |
Chr14:49795822..49795823 [GRCh38] Chr14:50262540..50262541 [GRCh37] Chr14:14q21.3 |
likely pathogenic |
NM_004713.6(NEMF):c.3130A>G (p.Lys1044Glu) |
single nucleotide variant |
not provided [RCV004760890] |
|
uncertain significance |
NM_004713.6(NEMF):c.1790C>G (p.Ala597Gly) |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV004797492] |
Chr14:49806088 [GRCh38] Chr14:50272806 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1762C>T (p.Arg588Trp) |
single nucleotide variant |
not provided [RCV004766465] |
Chr14:49806116 [GRCh38] Chr14:50272834 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.3211C>A (p.Leu1071Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004961637] |
Chr14:49784656 [GRCh38] Chr14:50251374 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1286A>G (p.Asn429Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004961626] |
Chr14:49828754 [GRCh38] Chr14:50295472 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.2161A>G (p.Met721Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004961627] |
Chr14:49800631 [GRCh38] Chr14:50267349 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.1820G>A (p.Arg607Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004961628] |
Chr14:49806058 [GRCh38] Chr14:50272776 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.3199G>A (p.Ala1067Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004961630] |
Chr14:49784668 [GRCh38] Chr14:50251386 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2970A>C (p.Glu990Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004961634] |
Chr14:49785279 [GRCh38] Chr14:50251997 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2012G>A (p.Arg671Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004961636] |
Chr14:49802536 [GRCh38] Chr14:50269254 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2651A>G (p.Lys884Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004961639] |
Chr14:49789542 [GRCh38] Chr14:50256260 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2672G>A (p.Arg891His) |
single nucleotide variant |
Inborn genetic diseases [RCV004961641] |
Chr14:49789521 [GRCh38] Chr14:50256239 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1594T>A (p.Trp532Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004961642] |
Chr14:49814841 [GRCh38] Chr14:50281559 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1634G>A (p.Arg545Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004961631] |
Chr14:49814801 [GRCh38] Chr14:50281519 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2875G>A (p.Asp959Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004961625] |
Chr14:49789166 [GRCh38] Chr14:50255884 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.35C>T (p.Ala12Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004961633] |
Chr14:49852719 [GRCh38] Chr14:50319437 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2653G>T (p.Asp885Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004961638] |
Chr14:49789540 [GRCh38] Chr14:50256258 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2890G>C (p.Asp964His) |
single nucleotide variant |
Inborn genetic diseases [RCV004961640] |
Chr14:49789151 [GRCh38] Chr14:50255869 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2540A>G (p.Glu847Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004961629] |
Chr14:49795870 [GRCh38] Chr14:50262588 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.673G>A (p.Val225Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004961632] |
Chr14:49833485 [GRCh38] Chr14:50300203 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2176C>G (p.Gln726Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004961635] |
Chr14:49800616 [GRCh38] Chr14:50267334 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2338dup (p.Thr780fs) |
duplication |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV005002103] |
Chr14:49800453..49800454 [GRCh38] Chr14:50267171..50267172 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.1933C>T (p.Pro645Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004654781] |
Chr14:49802710 [GRCh38] Chr14:50269428 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2608C>T (p.Arg870Ter) |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267813] |
Chr14:49795802 [GRCh38] Chr14:50262520 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.2014A>T (p.Lys672Ter) |
single nucleotide variant |
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [RCV001267814] |
Chr14:49802534 [GRCh38] Chr14:50269252 [GRCh37] Chr14:14q21.3 |
pathogenic |
NM_004713.6(NEMF):c.2580A>C (p.Lys860Asn) |
single nucleotide variant |
not provided [RCV003334163] |
Chr14:49795830 [GRCh38] Chr14:50262548 [GRCh37] Chr14:14q21.3 |
likely benign |
NM_004713.6(NEMF):c.699A>C (p.Glu233Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004486309] |
Chr14:49833459 [GRCh38] Chr14:50300177 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.1082C>T (p.Ala361Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004654777] |
Chr14:49829204 [GRCh38] Chr14:50295922 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2083A>G (p.Met695Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004654778] |
Chr14:49802465 [GRCh38] Chr14:50269183 [GRCh37] Chr14:14q21.3 |
uncertain significance |
NM_004713.6(NEMF):c.2419G>A (p.Asp807Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004654780] |
Chr14:49799521 [GRCh38] Chr14:50266239 [GRCh37] Chr14:14q21.3 |
uncertain significance |