NM_000601.6(HGF):c.482+1986_482+1988del |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 39 [RCV000016090] |
Chr7:81755201..81755203 [GRCh38] Chr7:81384517..81384519 [GRCh37] Chr7:7q21.11 |
pathogenic |
NM_000601.6(HGF):c.482+1991_482+2000del |
microsatellite |
Autosomal recessive nonsyndromic hearing loss 39 [RCV000016091] |
Chr7:81755189..81755198 [GRCh38] Chr7:81384505..81384514 [GRCh37] Chr7:7q21.11 |
pathogenic |
NM_000601.6(HGF):c.2011-50C>A |
single nucleotide variant |
not provided [RCV001545012] |
Chr7:81702807 [GRCh38] Chr7:81332123 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.495G>A (p.Ser165=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 39 [RCV000016089] |
Chr7:81752250 [GRCh38] Chr7:81381566 [GRCh37] Chr7:7q21.11 |
pathogenic |
NM_000601.6(HGF):c.1008G>A (p.Glu336=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 39 [RCV000625228]|not provided [RCV000727188]|not specified [RCV000036550] |
Chr7:81729637 [GRCh38] Chr7:81358953 [GRCh37] Chr7:7q21.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000601.6(HGF):c.1272-4A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 39 [RCV000624946]|Nonsyndromic Hearing Loss, Mixed [RCV000391680]|not provided [RCV002054590]|not specified [RCV000036551] |
Chr7:81717369 [GRCh38] Chr7:81346685 [GRCh37] Chr7:7q21.11 |
benign|likely benign |
NM_000601.6(HGF):c.1454T>C (p.Ile485Thr) |
single nucleotide variant |
not specified [RCV000036552] |
Chr7:81710234 [GRCh38] Chr7:81339550 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.333A>G (p.Glu111=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000327792]|not provided [RCV000711896]|not specified [RCV000036553] |
Chr7:81758726 [GRCh38] Chr7:81388042 [GRCh37] Chr7:7q21.11 |
benign|likely benign |
NM_000601.6(HGF):c.711T>C (p.His237=) |
single nucleotide variant |
not provided [RCV000965042]|not specified [RCV000036554] |
Chr7:81745035 [GRCh38] Chr7:81374351 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000276154]|not provided [RCV002054591]|not specified [RCV000036555] |
Chr7:81729735 [GRCh38] Chr7:81359051 [GRCh37] Chr7:7q21.11 |
benign|likely benign |
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 |
copy number loss |
See cases [RCV000050709] |
Chr7:71225344..81735657 [GRCh38] Chr7:70690330..81364973 [GRCh37] Chr7:70328266..81202909 [NCBI36] Chr7:7q11.22-21.11 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 |
copy number loss |
See cases [RCV000052250] |
Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q21.11(chr7:81674792-84509195)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052130]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052130]|See cases [RCV000052130] |
Chr7:81674792..84509195 [GRCh38] Chr7:81304108..84138511 [GRCh37] Chr7:81142044..83976447 [NCBI36] Chr7:7q21.11 |
uncertain significance |
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 |
copy number loss |
See cases [RCV000054118] |
Chr7:73873420..83988860 [GRCh38] Chr7:73992744..83618176 [GRCh37] Chr7:72925686..83456112 [NCBI36] Chr7:7q11.23-21.11 |
pathogenic |
NM_000601.4(HGF):c.2130A>C (p.Ala710=) |
single nucleotide variant |
Malignant melanoma [RCV000067949] |
Chr7:81702638 [GRCh38] Chr7:81331954 [GRCh37] Chr7:81169890 [NCBI36] Chr7:7q21.11 |
not provided |
NM_000601.4(HGF):c.255-299G>C |
single nucleotide variant |
Lung cancer [RCV000106512] |
Chr7:81759103 [GRCh38] Chr7:81388419 [GRCh37] Chr7:7q21.11 |
uncertain significance |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 |
copy number loss |
See cases [RCV000135401] |
Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) |
single nucleotide variant |
not provided [RCV000724490]|not specified [RCV000221502] |
Chr7:81705679 [GRCh38] Chr7:81334995 [GRCh37] Chr7:7q21.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) |
single nucleotide variant |
not provided [RCV000724493]|not specified [RCV000218246] |
Chr7:81705697 [GRCh38] Chr7:81335013 [GRCh37] Chr7:7q21.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 |
copy number loss |
See cases [RCV000142381] |
Chr7:74377395..82031742 [GRCh38] Chr7:73992744..81661058 [GRCh37] Chr7:73429661..81498994 [NCBI36] Chr7:7q11.23-21.11 |
pathogenic |
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 39 [RCV000477953]|not specified [RCV000150806] |
Chr7:81729662 [GRCh38] Chr7:81358978 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.865+410dup |
duplication |
not specified [RCV000150807] |
Chr7:81742941..81742942 [GRCh38] Chr7:81372257..81372258 [GRCh37] Chr7:7q21.11 |
pathogenic|not provided |
NM_000601.6(HGF):c.1041-12T>C |
single nucleotide variant |
not specified [RCV000156675] |
Chr7:81726029 [GRCh38] Chr7:81355345 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.682T>G (p.Ser228Ala) |
single nucleotide variant |
not provided [RCV001836738]|not specified [RCV000150808] |
Chr7:81745064 [GRCh38] Chr7:81374380 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002514902]|not provided [RCV001762330]|not specified [RCV000150809] |
Chr7:81745087 [GRCh38] Chr7:81374403 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1891G>A (p.Val631Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 39 [RCV000987900]|not provided [RCV001719971]|not specified [RCV000155127] |
Chr7:81705509 [GRCh38] Chr7:81334825 [GRCh37] Chr7:7q21.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000601.6(HGF):c.270T>C (p.Asp90=) |
single nucleotide variant |
not provided [RCV000724491]|not specified [RCV000215168] |
Chr7:81758789 [GRCh38] Chr7:81388105 [GRCh37] Chr7:7q21.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
Single allele |
deletion |
Seizure [RCV000240885] |
Chr7:81587754..84304468 [GRCh38] Chr7:81217070..83933784 [GRCh37] Chr7:7q21.11 |
likely pathogenic |
Single allele |
deletion |
Seizure [RCV000240951] |
Chr7:79708363..87161076 [GRCh38] Chr7:79337679..86790392 [GRCh37] Chr7:7q21.11-21.12 |
pathogenic|likely pathogenic |
NM_000601.6(HGF):c.471A>G (p.Pro157=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000362654]|not provided [RCV001560919]|not specified [RCV000219529] |
Chr7:81757200 [GRCh38] Chr7:81386516 [GRCh37] Chr7:7q21.11 |
likely benign|uncertain significance |
NM_000601.6(HGF):c.1540A>G (p.Arg514Gly) |
single nucleotide variant |
not specified [RCV000220633] |
Chr7:81710148 [GRCh38] Chr7:81339464 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.483-20G>A |
single nucleotide variant |
not specified [RCV000242069] |
Chr7:81752282 [GRCh38] Chr7:81381598 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.88+9C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000321516] |
Chr7:81769875 [GRCh38] Chr7:81399191 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.*396A>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000285931] |
Chr7:81702185 [GRCh38] Chr7:81331501 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.-40A>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000286375] |
Chr7:81770011 [GRCh38] Chr7:81399327 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1715A>G (p.Tyr572Cys) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000355882] |
Chr7:81706329 [GRCh38] Chr7:81335645 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.5(HGF):c.-94G>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000399680] |
Chr7:81770065 [GRCh38] Chr7:81399381 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.4T>C (p.Trp2Arg) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000378490] |
Chr7:81769968 [GRCh38] Chr7:81399284 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1041-6C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000311558] |
Chr7:81726023 [GRCh38] Chr7:81355339 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.800C>T (p.Pro267Leu) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000333616] |
Chr7:81743418 [GRCh38] Chr7:81372734 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.-44A>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000334350] |
Chr7:81770015 [GRCh38] Chr7:81399331 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.921A>C (p.Gln307His) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000368393] |
Chr7:81729724 [GRCh38] Chr7:81359040 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1765G>A (p.Val589Ile) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000298690]|not provided [RCV000883919] |
Chr7:81705746 [GRCh38] Chr7:81335062 [GRCh37] Chr7:7q21.11 |
benign|likely benign|uncertain significance |
NM_000601.6(HGF):c.1904A>G (p.Tyr635Cys) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000391658] |
Chr7:81705496 [GRCh38] Chr7:81334812 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.137C>T (p.Ala46Val) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000283216]|not provided [RCV000973134]|not specified [RCV000608266] |
Chr7:81762824 [GRCh38] Chr7:81392140 [GRCh37] Chr7:7q21.11 |
benign|likely benign|uncertain significance |
NM_000601.6(HGF):c.2019T>C (p.Tyr673=) |
single nucleotide variant |
not provided [RCV000303305] |
Chr7:81702749 [GRCh38] Chr7:81332065 [GRCh37] Chr7:7q21.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000601.6(HGF):c.438C>A (p.Gly146=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000270369] |
Chr7:81757233 [GRCh38] Chr7:81386549 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.754G>A (p.Asp252Asn) |
single nucleotide variant |
not provided [RCV002281324] |
Chr7:81743464 [GRCh38] Chr7:81372780 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1445-152G>A |
single nucleotide variant |
not provided [RCV001567077] |
Chr7:81710395 [GRCh38] Chr7:81339711 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.147C>G (p.Thr49=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000384633] |
Chr7:81762814 [GRCh38] Chr7:81392130 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.*467A>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000374709] |
Chr7:81702114 [GRCh38] Chr7:81331430 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.*101A>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Mixed [RCV000343182] |
Chr7:81702480 [GRCh38] Chr7:81331796 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.717A>G (p.Thr239=) |
single nucleotide variant |
not provided [RCV000733016] |
Chr7:81745029 [GRCh38] Chr7:81374345 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1675G>A (p.Glu559Lys) |
single nucleotide variant |
not provided [RCV000728416] |
Chr7:81706369 [GRCh38] Chr7:81335685 [GRCh37] Chr7:7q21.11 |
uncertain significance |
TMEM106B-BRAF fusion |
deletion |
Pleomorphic xanthoastrocytoma [RCV000454357] |
Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 |
copy number loss |
See cases [RCV000446044] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q21.11(chr7:81355319-81663832)x3 |
copy number gain |
See cases [RCV000447818] |
Chr7:81355319..81663832 [GRCh37] Chr7:7q21.11 |
likely benign |
NC_000007.14:g.(?_81485635)_(84094822_?)del |
deletion |
Schizophrenia [RCV000416754] |
Chr7:81485635..84094822 [GRCh38] Chr7:81114951..83724138 [GRCh37] Chr7:80952887..83562074 [NCBI36] Chr7:7q21.11 |
likely pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) |
copy number gain |
See cases [RCV000510686] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q21.11(chr7:80348675-83666606)x1 |
copy number loss |
See cases [RCV000511923] |
Chr7:80348675..83666606 [GRCh37] Chr7:7q21.11 |
likely pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 |
copy number gain |
See cases [RCV000511549] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000601.6(HGF):c.258T>C (p.Ala86=) |
single nucleotide variant |
not provided [RCV000892097]|not specified [RCV000609442] |
Chr7:81758801 [GRCh38] Chr7:81388117 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1934A>G (p.His645Arg) |
single nucleotide variant |
not specified [RCV000609946] |
Chr7:81705466 [GRCh38] Chr7:81334782 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1406-3C>T |
single nucleotide variant |
not specified [RCV000615891] |
Chr7:81711522 [GRCh38] Chr7:81340838 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.865+11G>A |
single nucleotide variant |
not provided [RCV002066826]|not specified [RCV000616912] |
Chr7:81743342 [GRCh38] Chr7:81372658 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.146C>A (p.Thr49Asn) |
single nucleotide variant |
not specified [RCV000608473] |
Chr7:81762815 [GRCh38] Chr7:81392131 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1818T>C (p.Ile606=) |
single nucleotide variant |
not specified [RCV000614331] |
Chr7:81705693 [GRCh38] Chr7:81335009 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter) |
single nucleotide variant |
not provided [RCV002532720]|not specified [RCV000601187] |
Chr7:81702589 [GRCh38] Chr7:81331905 [GRCh37] Chr7:7q21.11 |
likely benign|uncertain significance |
Single allele |
deletion |
not provided [RCV000677988] |
Chr7:73591993..93683437 [GRCh37] Chr7:7q11.23-21.3 |
uncertain significance |
NM_000601.6(HGF):c.482+286_482+287insCCCTTT |
insertion |
not provided [RCV001566402] |
Chr7:81756902..81756903 [GRCh38] Chr7:81386218..81386219 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.865+555C>A |
single nucleotide variant |
not provided [RCV001565564] |
Chr7:81742798 [GRCh38] Chr7:81372114 [GRCh37] Chr7:7q21.11 |
likely benign |
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv |
inversion |
Childhood apraxia of speech [RCV000234948] |
Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
NM_000601.6(HGF):c.483-153A>G |
single nucleotide variant |
not provided [RCV001539452] |
Chr7:81752415 [GRCh38] Chr7:81381731 [GRCh37] Chr7:7q21.11 |
benign |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 |
copy number gain |
not provided [RCV000746280] |
Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NC_000007.14:g.(?_81478831)_(84097791_?)del |
deletion |
Schizophrenia [RCV000754335] |
Chr7:81478831..84097791 [GRCh38] Chr7:7q21.11 |
likely pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 |
copy number gain |
not provided [RCV000746278] |
Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q21.11(chr7:81026186-81466742)x3 |
copy number gain |
not provided [RCV000746846] |
Chr7:81026186..81466742 [GRCh37] Chr7:7q21.11 |
likely benign |
GRCh37/hg19 7q21.11(chr7:81206169-81418596)x3 |
copy number gain |
not provided [RCV000746847] |
Chr7:81206169..81418596 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1758-118del |
deletion |
not provided [RCV001681975] |
Chr7:81705871 [GRCh38] Chr7:81335187 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.866-22del |
deletion |
Autosomal recessive nonsyndromic hearing loss 39 [RCV001703029]|not provided [RCV001651508] |
Chr7:81729801 [GRCh38] Chr7:81359117 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.2011-160A>G |
single nucleotide variant |
not provided [RCV001571670] |
Chr7:81702917 [GRCh38] Chr7:81332233 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1272-244C>T |
single nucleotide variant |
not provided [RCV001708505] |
Chr7:81717609 [GRCh38] Chr7:81346925 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.368-46A>G |
single nucleotide variant |
not provided [RCV001565568] |
Chr7:81757349 [GRCh38] Chr7:81386665 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1275T>C (p.His425=) |
single nucleotide variant |
not provided [RCV001584877] |
Chr7:81717362 [GRCh38] Chr7:81346678 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.482+22G>A |
single nucleotide variant |
not provided [RCV001551686] |
Chr7:81757167 [GRCh38] Chr7:81386483 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1168+231C>A |
single nucleotide variant |
not provided [RCV001566673] |
Chr7:81725659 [GRCh38] Chr7:81354975 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.482+287_482+288insCTCTTT |
insertion |
not provided [RCV001648061] |
Chr7:81756901..81756902 [GRCh38] Chr7:81386217..81386218 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1662C>T (p.His554=) |
single nucleotide variant |
not provided [RCV000925507] |
Chr7:81706382 [GRCh38] Chr7:81335698 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.762C>T (p.Gly254=) |
single nucleotide variant |
not provided [RCV000981529] |
Chr7:81743456 [GRCh38] Chr7:81372772 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1865-4C>T |
single nucleotide variant |
not provided [RCV000949312] |
Chr7:81705539 [GRCh38] Chr7:81334855 [GRCh37] Chr7:7q21.11 |
likely benign |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 |
copy number gain |
not provided [RCV000848126] |
Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000601.6(HGF):c.594C>T (p.Tyr198=) |
single nucleotide variant |
not provided [RCV000922288] |
Chr7:81752151 [GRCh38] Chr7:81381467 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.2016T>C (p.Asp672=) |
single nucleotide variant |
not provided [RCV000926596] |
Chr7:81702752 [GRCh38] Chr7:81332068 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1627G>T (p.Asp543Tyr) |
single nucleotide variant |
not provided [RCV000841416] |
Chr7:81706417 [GRCh38] Chr7:81335733 [GRCh37] Chr7:7q21.11 |
likely benign|conflicting interpretations of pathogenicity |
NM_000601.6(HGF):c.1942G>A (p.Gly648Arg) |
single nucleotide variant |
not specified [RCV000825934] |
Chr7:81705458 [GRCh38] Chr7:81334774 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.2011-3dup |
duplication |
not specified [RCV000825936] |
Chr7:81702759..81702760 [GRCh38] Chr7:81332075..81332076 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1616+71G>T |
single nucleotide variant |
not provided [RCV000842921] |
Chr7:81707219 [GRCh38] Chr7:81336535 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.885C>T (p.Asp295=) |
single nucleotide variant |
not provided [RCV000960894]|not specified [RCV001195193] |
Chr7:81729760 [GRCh38] Chr7:81359076 [GRCh37] Chr7:7q21.11 |
likely benign |
GRCh37/hg19 7q21.11(chr7:81075835-81387108)x3 |
copy number gain |
not provided [RCV000846300] |
Chr7:81075835..81387108 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.89-233A>G |
single nucleotide variant |
not provided [RCV001544909] |
Chr7:81763105 [GRCh38] Chr7:81392421 [GRCh37] Chr7:7q21.11 |
likely benign |
NC_000007.13:g.(?_81331897)_(81603888_?)dup |
duplication |
not provided [RCV003105266] |
Chr7:81331897..81603888 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1169-317C>T |
single nucleotide variant |
not provided [RCV001581067] |
Chr7:81721164 [GRCh38] Chr7:81350480 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1617-175T>G |
single nucleotide variant |
not provided [RCV001571511] |
Chr7:81706602 [GRCh38] Chr7:81335918 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1788G>A (p.Thr596_Ile597=) |
single nucleotide variant |
not provided [RCV003107082] |
Chr7:81705723 [GRCh38] Chr7:81335039 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.2011-32T>G |
single nucleotide variant |
not provided [RCV001588570] |
Chr7:81702789 [GRCh38] Chr7:81332105 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1040+209C>T |
single nucleotide variant |
not provided [RCV001638590] |
Chr7:81729396 [GRCh38] Chr7:81358712 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.626-318C>T |
single nucleotide variant |
not provided [RCV001560537] |
Chr7:81745438 [GRCh38] Chr7:81374754 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1168+140C>T |
single nucleotide variant |
not provided [RCV001680958] |
Chr7:81725750 [GRCh38] Chr7:81355066 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1541+221T>C |
single nucleotide variant |
not provided [RCV001555461] |
Chr7:81709926 [GRCh38] Chr7:81339242 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.625+241C>T |
single nucleotide variant |
not provided [RCV001591509] |
Chr7:81751879 [GRCh38] Chr7:81381195 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.2011-78C>A |
single nucleotide variant |
not provided [RCV001648333] |
Chr7:81702835 [GRCh38] Chr7:81332151 [GRCh37] Chr7:7q21.11 |
benign |
Single allele |
single nucleotide variant |
not provided [RCV001555801] |
Chr7:81770271 [GRCh38] Chr7:81399587 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1041-339A>G |
single nucleotide variant |
not provided [RCV001561330] |
Chr7:81726356 [GRCh38] Chr7:81355672 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.483-35C>T |
single nucleotide variant |
not provided [RCV001598534] |
Chr7:81752297 [GRCh38] Chr7:81381613 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1169-303T>C |
single nucleotide variant |
not provided [RCV001621368] |
Chr7:81721150 [GRCh38] Chr7:81350466 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1271+209T>C |
single nucleotide variant |
not provided [RCV001562043] |
Chr7:81720536 [GRCh38] Chr7:81349852 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1405+256T>C |
single nucleotide variant |
not provided [RCV001656093] |
Chr7:81716976 [GRCh38] Chr7:81346292 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1169-282G>A |
single nucleotide variant |
not provided [RCV001682395] |
Chr7:81721129 [GRCh38] Chr7:81350445 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1271+190A>T |
single nucleotide variant |
not provided [RCV001564622] |
Chr7:81720555 [GRCh38] Chr7:81349871 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1616+22T>C |
single nucleotide variant |
not provided [RCV001571581] |
Chr7:81707268 [GRCh38] Chr7:81336584 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1041-319T>C |
single nucleotide variant |
not provided [RCV001557956] |
Chr7:81726336 [GRCh38] Chr7:81355652 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1757+143G>A |
single nucleotide variant |
not provided [RCV001640052] |
Chr7:81706144 [GRCh38] Chr7:81335460 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1758-119_1758-118del |
deletion |
not provided [RCV001568012] |
Chr7:81705871..81705872 [GRCh38] Chr7:81335187..81335188 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1272-120A>G |
single nucleotide variant |
not provided [RCV001558458] |
Chr7:81717485 [GRCh38] Chr7:81346801 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1616+167A>G |
single nucleotide variant |
not provided [RCV001678600] |
Chr7:81707123 [GRCh38] Chr7:81336439 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.746+27A>G |
single nucleotide variant |
not provided [RCV001558883] |
Chr7:81744973 [GRCh38] Chr7:81374289 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.625+110G>A |
single nucleotide variant |
not provided [RCV001620997] |
Chr7:81752010 [GRCh38] Chr7:81381326 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.254+27A>G |
single nucleotide variant |
not provided [RCV001547223] |
Chr7:81762680 [GRCh38] Chr7:81391996 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1865-12_1865-6del |
deletion |
not provided [RCV000949313] |
Chr7:81705541..81705547 [GRCh38] Chr7:81334857..81334863 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1704C>T (p.Ser568=) |
single nucleotide variant |
not provided [RCV000925652] |
Chr7:81706340 [GRCh38] Chr7:81335656 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1542-214T>G |
single nucleotide variant |
not provided [RCV001556913] |
Chr7:81707578 [GRCh38] Chr7:81336894 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1169-332C>T |
single nucleotide variant |
not provided [RCV001620963] |
Chr7:81721179 [GRCh38] Chr7:81350495 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.865+217T>C |
single nucleotide variant |
not provided [RCV001637145] |
Chr7:81743136 [GRCh38] Chr7:81372452 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.865+73A>G |
single nucleotide variant |
not provided [RCV001558069] |
Chr7:81743280 [GRCh38] Chr7:81372596 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.747-214T>C |
single nucleotide variant |
not provided [RCV001558073] |
Chr7:81743685 [GRCh38] Chr7:81373001 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.2011-140A>G |
single nucleotide variant |
not provided [RCV001593917] |
Chr7:81702897 [GRCh38] Chr7:81332213 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1617-154G>C |
single nucleotide variant |
not provided [RCV001553340] |
Chr7:81706581 [GRCh38] Chr7:81335897 [GRCh37] Chr7:7q21.11 |
likely benign |
Single allele |
single nucleotide variant |
not provided [RCV001553506] |
Chr7:81770189 [GRCh38] Chr7:81399505 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1617-34T>C |
single nucleotide variant |
not provided [RCV001576043] |
Chr7:81706461 [GRCh38] Chr7:81335777 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1041-169A>T |
single nucleotide variant |
not provided [RCV001638989] |
Chr7:81726186 [GRCh38] Chr7:81355502 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1405+128C>T |
single nucleotide variant |
not provided [RCV001714022] |
Chr7:81717104 [GRCh38] Chr7:81346420 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.865+513T>C |
single nucleotide variant |
not provided [RCV001620605] |
Chr7:81742840 [GRCh38] Chr7:81372156 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1444+290C>T |
single nucleotide variant |
not provided [RCV001587141] |
Chr7:81711191 [GRCh38] Chr7:81340507 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.89-22T>A |
single nucleotide variant |
not provided [RCV001590160] |
Chr7:81762894 [GRCh38] Chr7:81392210 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.482+61A>T |
single nucleotide variant |
not provided [RCV001587513] |
Chr7:81757128 [GRCh38] Chr7:81386444 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.88+153dup |
duplication |
not provided [RCV001614272] |
Chr7:81769724..81769725 [GRCh38] Chr7:81399040..81399041 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1541+159T>G |
single nucleotide variant |
not provided [RCV001710686] |
Chr7:81709988 [GRCh38] Chr7:81339304 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.254+188G>A |
single nucleotide variant |
not provided [RCV001682603] |
Chr7:81762519 [GRCh38] Chr7:81391835 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.865+590T>C |
single nucleotide variant |
not provided [RCV001670384] |
Chr7:81742763 [GRCh38] Chr7:81372079 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1444+282G>A |
single nucleotide variant |
not provided [RCV001589437] |
Chr7:81711199 [GRCh38] Chr7:81340515 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1169-60C>T |
single nucleotide variant |
not provided [RCV001645309] |
Chr7:81720907 [GRCh38] Chr7:81350223 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.483-81C>T |
single nucleotide variant |
not provided [RCV001586995] |
Chr7:81752343 [GRCh38] Chr7:81381659 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1617-289A>C |
single nucleotide variant |
not provided [RCV001547838] |
Chr7:81706716 [GRCh38] Chr7:81336032 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.754G>C (p.Asp252His) |
single nucleotide variant |
not specified [RCV001195382] |
Chr7:81743464 [GRCh38] Chr7:81372780 [GRCh37] Chr7:7q21.11 |
uncertain significance |
Single allele |
complex |
Ring chromosome 7 [RCV002280646] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000601.6(HGF):c.1295C>T (p.Ala432Val) |
single nucleotide variant |
not provided [RCV001289448] |
Chr7:81717342 [GRCh38] Chr7:81346658 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1169-45T>C |
single nucleotide variant |
not provided [RCV001642145] |
Chr7:81720892 [GRCh38] Chr7:81350208 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.229A>G (p.Asn77Asp) |
single nucleotide variant |
not provided [RCV001355257] |
Chr7:81762732 [GRCh38] Chr7:81392048 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.2183C>A (p.Ser728Ter) |
single nucleotide variant |
Hearing impairment [RCV001375429] |
Chr7:81702585 [GRCh38] Chr7:81331901 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1343A>G (p.His448Arg) |
single nucleotide variant |
not specified [RCV001449763] |
Chr7:81717294 [GRCh38] Chr7:81346610 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1541+256G>A |
single nucleotide variant |
not provided [RCV001534080] |
Chr7:81709891 [GRCh38] Chr7:81339207 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.626-64C>G |
single nucleotide variant |
not provided [RCV001612591] |
Chr7:81745184 [GRCh38] Chr7:81374500 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.1758-261C>A |
single nucleotide variant |
not provided [RCV001586963] |
Chr7:81706014 [GRCh38] Chr7:81335330 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1041-116A>T |
single nucleotide variant |
not provided [RCV001674122] |
Chr7:81726133 [GRCh38] Chr7:81355449 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.865+622T>C |
single nucleotide variant |
not provided [RCV001665986] |
Chr7:81742731 [GRCh38] Chr7:81372047 [GRCh37] Chr7:7q21.11 |
benign |
NM_000601.6(HGF):c.2010+6A>G |
single nucleotide variant |
not provided [RCV001590593] |
Chr7:81705384 [GRCh38] Chr7:81334700 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.6G>T (p.Trp2Cys) |
single nucleotide variant |
not provided [RCV001752217] |
Chr7:81769966 [GRCh38] Chr7:81399282 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.725G>A (p.Arg242Gln) |
single nucleotide variant |
not provided [RCV001779734] |
Chr7:81745021 [GRCh38] Chr7:81374337 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.2123G>A (p.Arg708Gln) |
single nucleotide variant |
not provided [RCV001863965] |
Chr7:81702645 [GRCh38] Chr7:81331961 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1403G>A (p.Arg468His) |
single nucleotide variant |
not provided [RCV002024208] |
Chr7:81717234 [GRCh38] Chr7:81346550 [GRCh37] Chr7:7q21.11 |
uncertain significance |
GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089) |
copy number loss |
not specified [RCV002053699] |
Chr7:77310644..84461089 [GRCh37] Chr7:7q11.23-21.11 |
pathogenic |
GRCh37/hg19 7q21.11(chr7:78430626-82605557) |
copy number loss |
not specified [RCV002053703] |
Chr7:78430626..82605557 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1602G>C (p.Gln534His) |
single nucleotide variant |
not provided [RCV001969363] |
Chr7:81707304 [GRCh38] Chr7:81336620 [GRCh37] Chr7:7q21.11 |
uncertain significance |
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) |
copy number gain |
not specified [RCV002053701] |
Chr7:77821356..93340137 [GRCh37] Chr7:7q21.11-21.3 |
pathogenic |
NM_000601.6(HGF):c.2146A>C (p.Ile716Leu) |
single nucleotide variant |
not provided [RCV001968648] |
Chr7:81702622 [GRCh38] Chr7:81331938 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1816A>G (p.Ile606Val) |
single nucleotide variant |
not provided [RCV001990486] |
Chr7:81705695 [GRCh38] Chr7:81335011 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1403G>C (p.Arg468Pro) |
single nucleotide variant |
not provided [RCV002049093] |
Chr7:81717234 [GRCh38] Chr7:81346550 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1595C>T (p.Ala532Val) |
single nucleotide variant |
not provided [RCV001915839] |
Chr7:81707311 [GRCh38] Chr7:81336627 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.751C>G (p.Pro251Ala) |
single nucleotide variant |
not provided [RCV002028923] |
Chr7:81743467 [GRCh38] Chr7:81372783 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NC_000007.13:g.(?_80276057)_(83739925_?)del |
deletion |
not provided [RCV001960659] |
Chr7:80276057..83739925 [GRCh37] Chr7:7q21.11 |
pathogenic |
NM_000601.6(HGF):c.389T>C (p.Ile130Thr) |
single nucleotide variant |
not provided [RCV001996264] |
Chr7:81757282 [GRCh38] Chr7:81386598 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.724C>T (p.Arg242Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002553617]|not provided [RCV001882075] |
Chr7:81745022 [GRCh38] Chr7:81374338 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1666A>G (p.Arg556Gly) |
single nucleotide variant |
not provided [RCV001975488] |
Chr7:81706378 [GRCh38] Chr7:81335694 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.2095A>G (p.Ile699Val) |
single nucleotide variant |
not provided [RCV001936047] |
Chr7:81702673 [GRCh38] Chr7:81331989 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1981G>A (p.Ala661Thr) |
single nucleotide variant |
not provided [RCV001974798] |
Chr7:81705419 [GRCh38] Chr7:81334735 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1768C>G (p.Leu590Val) |
single nucleotide variant |
not provided [RCV001977919] |
Chr7:81705743 [GRCh38] Chr7:81335059 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1421C>A (p.Thr474Lys) |
single nucleotide variant |
not provided [RCV002032105] |
Chr7:81711504 [GRCh38] Chr7:81340820 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1405+11T>C |
single nucleotide variant |
not provided [RCV002148921] |
Chr7:81717221 [GRCh38] Chr7:81346537 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.21G>T (p.Leu7=) |
single nucleotide variant |
not provided [RCV002149683] |
Chr7:81769951 [GRCh38] Chr7:81399267 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1865-12G>A |
single nucleotide variant |
not provided [RCV002135274] |
Chr7:81705547 [GRCh38] Chr7:81334863 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.625+20A>G |
single nucleotide variant |
not provided [RCV002213216] |
Chr7:81752100 [GRCh38] Chr7:81381416 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.747-17C>G |
single nucleotide variant |
not provided [RCV002136525] |
Chr7:81743488 [GRCh38] Chr7:81372804 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1272-17G>C |
single nucleotide variant |
not provided [RCV002142506] |
Chr7:81717382 [GRCh38] Chr7:81346698 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.626-17_626-16dup |
duplication |
not provided [RCV002217069] |
Chr7:81745135..81745136 [GRCh38] Chr7:81374451..81374452 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1444+7A>T |
single nucleotide variant |
not provided [RCV002157884] |
Chr7:81711474 [GRCh38] Chr7:81340790 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1272-17G>T |
single nucleotide variant |
not provided [RCV002098907] |
Chr7:81717382 [GRCh38] Chr7:81346698 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1272-5_1272-4inv |
inversion |
not provided [RCV003114707] |
Chr7:81717369..81717370 [GRCh38] Chr7:81346685..81346686 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NC_000007.13:g.(?_81331897)_(84751207_?)dup |
duplication |
CHARGE association [RCV003116599] |
Chr7:81331897..84751207 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.104GAA[1] (p.Arg36del) |
microsatellite |
not provided [RCV002274746] |
Chr7:81762852..81762854 [GRCh38] Chr7:81392168..81392170 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.2084G>A (p.Arg695His) |
single nucleotide variant |
not provided [RCV002286288] |
Chr7:81702684 [GRCh38] Chr7:81332000 [GRCh37] Chr7:7q21.11 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 |
copy number loss |
See cases [RCV002287832] |
Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
NM_000601.6(HGF):c.2105G>A (p.Arg702His) |
single nucleotide variant |
not provided [RCV002469768] |
Chr7:81702663 [GRCh38] Chr7:81331979 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 39 [RCV002465061] |
Chr7:81705701 [GRCh38] Chr7:81335017 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1470G>A (p.Thr490_Lys491=) |
single nucleotide variant |
not provided [RCV002616631] |
Chr7:81710218 [GRCh38] Chr7:81339534 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1685A>G (p.Lys562Arg) |
single nucleotide variant |
not provided [RCV002636141] |
Chr7:81706359 [GRCh38] Chr7:81335675 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.367+17T>C |
single nucleotide variant |
not provided [RCV002881540] |
Chr7:81758675 [GRCh38] Chr7:81387991 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1953_1954insGAATGAGT (p.Leu652delinsGluTer) |
insertion |
not provided [RCV002903561] |
Chr7:81705446..81705447 [GRCh38] Chr7:81334762..81334763 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1951A>T (p.Thr651Ser) |
single nucleotide variant |
not provided [RCV002903562] |
Chr7:81705449 [GRCh38] Chr7:81334765 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.104G>T (p.Arg35Ile) |
single nucleotide variant |
not provided [RCV002726444] |
Chr7:81762857 [GRCh38] Chr7:81392173 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1272T>C (p.Arg424_His425=) |
single nucleotide variant |
not provided [RCV002847621] |
Chr7:81717365 [GRCh38] Chr7:81346681 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.483-17T>A |
single nucleotide variant |
not provided [RCV002591224] |
Chr7:81752279 [GRCh38] Chr7:81381595 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.758A>G (p.Lys253Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002660408] |
Chr7:81743460 [GRCh38] Chr7:81372776 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1372C>T (p.Leu458Phe) |
single nucleotide variant |
not provided [RCV002871013] |
Chr7:81717265 [GRCh38] Chr7:81346581 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1469C>T (p.Thr490Met) |
single nucleotide variant |
not provided [RCV002637444] |
Chr7:81710219 [GRCh38] Chr7:81339535 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1406-10A>G |
single nucleotide variant |
not provided [RCV002570058] |
Chr7:81711529 [GRCh38] Chr7:81340845 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1677G>C (p.Glu559Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002742577] |
Chr7:81706367 [GRCh38] Chr7:81335683 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1884A>G (p.Leu628_Leu629=) |
single nucleotide variant |
not provided [RCV003022402] |
Chr7:81705516 [GRCh38] Chr7:81334832 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1605T>C (p.Cys535_Phe536=) |
single nucleotide variant |
not provided [RCV002982552] |
Chr7:81707301 [GRCh38] Chr7:81336617 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.579T>C (p.Asn193_Pro194=) |
single nucleotide variant |
not provided [RCV002667456] |
Chr7:81752166 [GRCh38] Chr7:81381482 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.899T>G (p.Leu300Trp) |
single nucleotide variant |
not provided [RCV002958382] |
Chr7:81729746 [GRCh38] Chr7:81359062 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.182C>A (p.Thr61Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002789496] |
Chr7:81762779 [GRCh38] Chr7:81392095 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002666008] |
Chr7:81726009 [GRCh38] Chr7:81355325 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.2011G>C (p.Gly671Arg) |
single nucleotide variant |
not provided [RCV002938311] |
Chr7:81702757 [GRCh38] Chr7:81332073 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1274A>T (p.His425Leu) |
single nucleotide variant |
not provided [RCV002646621] |
Chr7:81717363 [GRCh38] Chr7:81346679 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.626-7T>G |
single nucleotide variant |
not provided [RCV002646779] |
Chr7:81745127 [GRCh38] Chr7:81374443 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.1405+20G>C |
single nucleotide variant |
not provided [RCV002597863] |
Chr7:81717212 [GRCh38] Chr7:81346528 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.983G>A (p.Arg328His) |
single nucleotide variant |
not provided [RCV002959239] |
Chr7:81729662 [GRCh38] Chr7:81358978 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.482+5G>C |
single nucleotide variant |
not provided [RCV002966110] |
Chr7:81757184 [GRCh38] Chr7:81386500 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.508A>G (p.Lys170Glu) |
single nucleotide variant |
not provided [RCV002582374] |
Chr7:81752237 [GRCh38] Chr7:81381553 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.7G>C (p.Val3Leu) |
single nucleotide variant |
not provided [RCV002634352] |
Chr7:81769965 [GRCh38] Chr7:81399281 [GRCh37] Chr7:7q21.11 |
uncertain significance |
NM_000601.6(HGF):c.1005C>T (p.His335_Glu336=) |
single nucleotide variant |
not provided [RCV002583757] |
Chr7:81729640 [GRCh38] Chr7:81358956 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.474C>T (p.His158_Glu159=) |
single nucleotide variant |
not provided [RCV002585616] |
Chr7:81757197 [GRCh38] Chr7:81386513 [GRCh37] Chr7:7q21.11 |
likely benign |
NM_000601.6(HGF):c.753C>T (p.Pro251_Asp252=) |
single nucleotide variant |
not provided [RCV002611947] |
Chr7:81743465 [GRCh38] Chr7:81372781 [GRCh37] Chr7:7q21.11 |
likely benign |