NM_001113378.1(FANCI):c.3473G>T (p.Cys1158Phe) |
single nucleotide variant |
Fanconi anemia [RCV000549476] |
Chr15:89306130 [GRCh38] Chr15:89849361 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) |
single nucleotide variant |
Fanconi anemia [RCV000529589]|Fanconi anemia, complementation group I [RCV001117326] |
Chr15:89263958 [GRCh38] Chr15:89807189 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3671T>C (p.Ile1224Thr) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758337]|not provided [RCV000522166] |
Chr15:89316800 [GRCh38] Chr15:89860031 [GRCh37] Chr15:15q26.1 |
uncertain significance |
FANCI, 2T-C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000001022] |
Chr15:15q25-q26 |
pathogenic |
NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000001023] |
Chr15:89315319 [GRCh38] Chr15:89858550 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000001024]|not provided [RCV000584965] |
Chr15:89315318 [GRCh38] Chr15:89858549 [GRCh37] Chr15:15q26.1 |
pathogenic|uncertain significance |
FANCI, IVS31AS, A-G, -88 |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000001025] |
Chr15:15q25-q26 |
pathogenic |
NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000778449] |
Chr15:89294967 [GRCh38] Chr15:89838198 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001239482]|Fanconi anemia, complementation group I [RCV000778450] |
Chr15:89303898 [GRCh38] Chr15:89847129 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_018193.3(FANCI):c.286dup (p.Glu96fs) |
duplication |
not provided [RCV000727622] |
Chr15:89260839..89260840 [GRCh38] Chr15:89804070..89804071 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.1(FANCI):c.3865A>G (p.Ile1289Val) |
single nucleotide variant |
Fanconi anemia [RCV000547520]|not specified [RCV001194160] |
Chr15:89315330 [GRCh38] Chr15:89858561 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.993G>A (p.Lys331=) |
single nucleotide variant |
Fanconi anemia [RCV000544746] |
Chr15:89274185 [GRCh38] Chr15:89817416 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.288+3A>G |
single nucleotide variant |
Fanconi anemia [RCV000546775] |
Chr15:89260846 [GRCh38] Chr15:89804077 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1992+10T>C |
single nucleotide variant |
not provided [RCV000526385] |
Chr15:89291724 [GRCh38] Chr15:89834955 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.2170-4T>C |
single nucleotide variant |
Fanconi anemia [RCV000525644] |
Chr15:89292938 [GRCh38] Chr15:89836169 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.179C>G (p.Ala60Gly) |
single nucleotide variant |
Fanconi anemia [RCV000547742] |
Chr15:89260734 [GRCh38] Chr15:89803965 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] |
Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 |
copy number gain |
See cases [RCV000052347] |
Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 |
copy number gain |
See cases [RCV000052352] |
Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.1467C>T (p.Ser489=) |
single nucleotide variant |
Malignant melanoma [RCV000070944] |
Chr15:89281255 [GRCh38] Chr15:89824486 [GRCh37] Chr15:87625490 [NCBI36] Chr15:15q26.1 |
not provided |
NM_001113378.1(FANCI):c.2895C>T (p.Ser965=) |
single nucleotide variant |
Malignant melanoma [RCV000070945] |
Chr15:89301331 [GRCh38] Chr15:89844562 [GRCh37] Chr15:87645566 [NCBI36] Chr15:15q26.1 |
not provided |
NM_002693.2(POLG):c.3644-9A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000352728]|Progressive sclerosing poliodystrophy [RCV000467871]|not provided [RCV000857933]|not specified [RCV000118021] |
Chr15:89316836 [GRCh38] Chr15:89860067 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) |
single nucleotide variant |
Fanconi anemia [RCV000291582]|Fanconi anemia, complementation group I [RCV001000243]|Mitochondrial diseases [RCV000020480]|POLG-Related Spectrum Disorders [RCV000327842]|Progressive sclerosing poliodystrophy [RCV000758401]|Seizures [RCV000715848]|not provided [RCV000676315]|not specified [RCV000118022] |
Chr15:89316763 [GRCh38] Chr15:89859994 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000536053]|not provided [RCV000710187]|not specified [RCV000127550] |
Chr15:89316771 [GRCh38] Chr15:89860002 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.2(FANCI):c.2422A>T |
single nucleotide variant |
Fanconi anemia [RCV000630839]|Fanconi anemia, complementation group I [RCV000190643] |
Chr15:89293963 [GRCh38] Chr15:89837194 [GRCh37] Chr15:15q26.1 |
pathogenic|likely pathogenic |
NM_001113378.1(FANCI):c.3812C>T (p.Ser1271Phe) |
single nucleotide variant |
Malignant tumor of breast [RCV001004844] |
Chr15:89314703 [GRCh38] Chr15:89857934 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 |
copy number gain |
See cases [RCV000135858] |
Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 |
copy number gain |
See cases [RCV000135568] |
Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 |
copy number gain |
See cases [RCV000136849] |
Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 |
copy number gain |
See cases [RCV000137264] |
Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 |
copy number gain |
See cases [RCV000141899] |
Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 |
copy number gain |
See cases [RCV000142915] |
Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 |
copy number gain |
See cases [RCV000143019] |
Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 |
copy number gain |
See cases [RCV000142727] |
Chr15:88676575..98364743 [GRCh38] Chr15:89219806..98907972 [GRCh37] Chr15:87020810..96725495 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) |
single nucleotide variant |
Fanconi anemia [RCV001084635]|Fanconi anemia, complementation group A [RCV000989374]|Fanconi anemia, complementation group I [RCV001117437]|not provided [RCV000224770]|not specified [RCV000193016] |
Chr15:89285210 [GRCh38] Chr15:89828441 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.1(FANCI):c.3721-127_3721-126insGTACAA |
insertion |
not specified [RCV000194734] |
Chr15:89314480..89314481 [GRCh38] Chr15:89857711..89857712 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) |
single nucleotide variant |
Fanconi anemia [RCV000231441]|Fanconi anemia, complementation group I [RCV001121009]|not specified [RCV000193501] |
Chr15:89294945 [GRCh38] Chr15:89838176 [GRCh37] Chr15:15q26.1 |
benign|likely benign|uncertain significance |
NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) |
single nucleotide variant |
Fanconi anemia [RCV000196010]|Fanconi anemia, complementation group I [RCV001119040] |
Chr15:89292751 [GRCh38] Chr15:89835982 [GRCh37] Chr15:15q26.1 |
likely pathogenic|benign|likely benign |
NM_001113378.1(FANCI):c.2883A>G (p.Gln961=) |
single nucleotide variant |
Fanconi anemia [RCV000200479] |
Chr15:89300379 [GRCh38] Chr15:89843610 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.*560A>G |
single nucleotide variant |
not specified [RCV000194820] |
Chr15:89317019 [GRCh38] Chr15:89860250 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3644-14G>C |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758554]|not specified [RCV000188538] |
Chr15:89316841 [GRCh38] Chr15:89860072 [GRCh37] Chr15:15q26.1 |
benign |
NM_002693.2(POLG):c.3652C>T (p.Leu1218=) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758388]|not provided [RCV000726207]|not specified [RCV000188539] |
Chr15:89316819 [GRCh38] Chr15:89860050 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002693.2(POLG):c.3701G>A (p.Arg1234Gln) |
single nucleotide variant |
not specified [RCV000188540] |
Chr15:89316770 [GRCh38] Chr15:89860001 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_002693.2(POLG):c.*12G>A |
single nucleotide variant |
not specified [RCV000188541] |
Chr15:89316739 [GRCh38] Chr15:89859970 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001116313]|POLG-Related Spectrum Disorders [RCV001116314]|Progressive sclerosing poliodystrophy [RCV000758560]|Progressive sclerosing poliodystrophy [RCV000765233]|not provided [RCV000766619]|not specified [RCV000188632] |
Chr15:89316821 [GRCh38] Chr15:89860052 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) |
single nucleotide variant |
Fanconi anemia [RCV000387145]|Fanconi anemia, complementation group I [RCV001121231]|POLG-Related Spectrum Disorders [RCV000292852]|Progressive sclerosing poliodystrophy [RCV000794915] |
Chr15:89316771 [GRCh38] Chr15:89860002 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.*49G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000361772]|POLG-Related Spectrum Disorders [RCV000267134]|Progressive sclerosing poliodystrophy [RCV000758389] |
Chr15:89316702 [GRCh38] Chr15:89859933 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) |
single nucleotide variant |
Fanconi anemia [RCV000205204]|Fanconi anemia, complementation group I [RCV001115870] |
Chr15:89260841 [GRCh38] Chr15:89804072 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.3924+1G>A |
single nucleotide variant |
Fanconi anemia [RCV000206316] |
Chr15:89315390 [GRCh38] Chr15:89858621 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.1(FANCI):c.445G>A (p.Gly149Ser) |
single nucleotide variant |
Fanconi anemia [RCV000206405] |
Chr15:89261741 [GRCh38] Chr15:89804972 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.3444_3445GT[1] (p.Cys1149fs) |
microsatellite |
Fanconi anemia [RCV000203795] |
Chr15:89307644..89307645 [GRCh38] Chr15:89850875..89850876 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.236G>A (p.Gly79Glu) |
single nucleotide variant |
Fanconi anemia [RCV000543012] |
Chr15:89260791 [GRCh38] Chr15:89804022 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1680G>A (p.Gln560=) |
single nucleotide variant |
Fanconi anemia [RCV000544332] |
Chr15:89283232 [GRCh38] Chr15:89826463 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) |
single nucleotide variant |
Fanconi anemia [RCV000228217]|Fanconi anemia, complementation group I [RCV001094371]|not provided [RCV000430909] |
Chr15:89292706 [GRCh38] Chr15:89835937 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.3592-8T>C |
single nucleotide variant |
Fanconi anemia [RCV000230437]|Fanconi anemia, complementation group I [RCV001121120]|not specified [RCV000244630] |
Chr15:89307605 [GRCh38] Chr15:89850836 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.1741G>A (p.Glu581Lys) |
single nucleotide variant |
Fanconi anemia [RCV000230658] |
Chr15:89285138 [GRCh38] Chr15:89828369 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.905A>G (p.Asn302Ser) |
single nucleotide variant |
Fanconi anemia [RCV000228659] |
Chr15:89273399 [GRCh38] Chr15:89816630 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) |
single nucleotide variant |
Fanconi anemia [RCV000228956]|Fanconi anemia, complementation group I [RCV001094276]|not provided [RCV000766508]|not specified [RCV000482252] |
Chr15:89281825 [GRCh38] Chr15:89825056 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) |
single nucleotide variant |
Fanconi anemia [RCV001082996]|not provided [RCV000515122] |
Chr15:89276809 [GRCh38] Chr15:89820040 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) |
single nucleotide variant |
Fanconi anemia [RCV000229685]|Fanconi anemia, complementation group I [RCV001094317]|not specified [RCV000247675] |
Chr15:89301433 [GRCh38] Chr15:89844664 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) |
single nucleotide variant |
Fanconi anemia [RCV000230137]|Fanconi anemia, complementation group I [RCV001094277]|not provided [RCV000424552] |
Chr15:89295062 [GRCh38] Chr15:89838293 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.2167C>T (p.Leu723=) |
single nucleotide variant |
not provided [RCV000226036] |
Chr15:89292862 [GRCh38] Chr15:89836093 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3255+6dup |
duplication |
Fanconi anemia [RCV001080863]|not provided [RCV000421284] |
Chr15:89305414..89305415 [GRCh38] Chr15:89848645..89848646 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.33A>G (p.Glu11=) |
single nucleotide variant |
Fanconi anemia [RCV000227605] |
Chr15:89247680 [GRCh38] Chr15:89790911 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3389T>A (p.Val1130Asp) |
single nucleotide variant |
Fanconi anemia [RCV000232922] |
Chr15:89306046 [GRCh38] Chr15:89849277 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2781T>A (p.Ile927=) |
single nucleotide variant |
not provided [RCV000233001] |
Chr15:89299944 [GRCh38] Chr15:89843175 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.2547A>G (p.Lys849=) |
single nucleotide variant |
Fanconi anemia [RCV000226449] |
Chr15:89295005 [GRCh38] Chr15:89838236 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) |
single nucleotide variant |
Fanconi anemia [RCV000233382]|Fanconi anemia, complementation group I [RCV001119128] |
Chr15:89305390 [GRCh38] Chr15:89848621 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) |
single nucleotide variant |
Fanconi anemia [RCV000233693]|Fanconi anemia, complementation group I [RCV001094367] |
Chr15:89264605 [GRCh38] Chr15:89807836 [GRCh37] Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) |
single nucleotide variant |
Fanconi anemia [RCV000230835] |
Chr15:89263422 [GRCh38] Chr15:89806653 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) |
single nucleotide variant |
Fanconi anemia [RCV000226832]|Fanconi anemia, complementation group I [RCV001094316]|not provided [RCV000514238] |
Chr15:89300328 [GRCh38] Chr15:89843559 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.3379A>G (p.Asn1127Asp) |
single nucleotide variant |
Fanconi anemia [RCV000231184] |
Chr15:89306036 [GRCh38] Chr15:89849267 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.2066_2077AGGAGGAAGAGG[1] (p.Glu693_Glu696del) |
microsatellite |
Fanconi anemia [RCV000232189] |
Chr15:89292760..89292771 [GRCh38] Chr15:89835991..89836002 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) |
single nucleotide variant |
Fanconi anemia [RCV000233977]|Fanconi anemia, complementation group I [RCV000763987] |
Chr15:89281187 [GRCh38] Chr15:89824418 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1891-6A>G |
single nucleotide variant |
not provided [RCV000234370] |
Chr15:89291607 [GRCh38] Chr15:89834838 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3925-4C>T |
single nucleotide variant |
not provided [RCV000234427] |
Chr15:89316393 [GRCh38] Chr15:89859624 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.2278A>G (p.Ile760Val) |
single nucleotide variant |
Fanconi anemia [RCV000228600] |
Chr15:89293050 [GRCh38] Chr15:89836281 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.446-6T>G |
single nucleotide variant |
Fanconi anemia [RCV000227151] |
Chr15:89261815 [GRCh38] Chr15:89805046 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.1904A>G (p.Tyr635Cys) |
single nucleotide variant |
Fanconi anemia [RCV000548119] |
Chr15:89291626 [GRCh38] Chr15:89834857 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3888G>A (p.Met1296Ile) |
single nucleotide variant |
Fanconi anemia [RCV000525820] |
Chr15:89315353 [GRCh38] Chr15:89858584 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 |
copy number gain |
See cases [RCV000511332] |
Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.545+19C>T |
single nucleotide variant |
not specified [RCV000243527] |
Chr15:89263479 [GRCh38] Chr15:89806710 [GRCh37] Chr15:15q26.1 |
benign |
NM_002693.2(POLG):c.3643+257T>G |
single nucleotide variant |
Fanconi anemia [RCV000274297]|Fanconi anemia, complementation group I [RCV001117758]|POLG-Related Spectrum Disorders [RCV000331693]|not provided [RCV000840517] |
Chr15:89317119 [GRCh38] Chr15:89860350 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) |
single nucleotide variant |
Fanconi anemia [RCV000348737]|Fanconi anemia, complementation group I [RCV001117649]|POLG-Related Spectrum Disorders [RCV000329693]|not specified [RCV000251297] |
Chr15:89315371 [GRCh38] Chr15:89858602 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000548544]|Progressive sclerosing poliodystrophy [RCV000765232] |
Chr15:89316804 [GRCh38] Chr15:89860035 [GRCh37] Chr15:15q26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.1698+15C>T |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000331416]|not specified [RCV000242034] |
Chr15:89283265 [GRCh38] Chr15:89826496 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) |
single nucleotide variant |
Fanconi anemia [RCV000397179]|Fanconi anemia, complementation group I [RCV001094278]|not specified [RCV000252318] |
Chr15:89295087 [GRCh38] Chr15:89838318 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 |
copy number gain |
See cases [RCV000240602] |
Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) |
single nucleotide variant |
Fanconi anemia [RCV000397172]|Fanconi anemia, complementation group I [RCV001094456]|not specified [RCV000242536] |
Chr15:89293908 [GRCh38] Chr15:89837139 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) |
single nucleotide variant |
Fanconi anemia [RCV000262235]|Fanconi anemia, complementation group I [RCV001094273]|not specified [RCV000247561] |
Chr15:89260812 [GRCh38] Chr15:89804043 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.288+37G>A |
single nucleotide variant |
not specified [RCV000242880] |
Chr15:89260880 [GRCh38] Chr15:89804111 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) |
single nucleotide variant |
Fanconi anemia [RCV000297536]|Fanconi anemia, complementation group I [RCV001094272]|not specified [RCV000250260] |
Chr15:89260719 [GRCh38] Chr15:89803950 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) |
single nucleotide variant |
Fanconi anemia [RCV000339014]|Fanconi anemia, complementation group I [RCV001094455]|not specified [RCV000250359] |
Chr15:89292997 [GRCh38] Chr15:89836228 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.3006+15A>C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000276437]|not specified [RCV000252807] |
Chr15:89301457 [GRCh38] Chr15:89844688 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.824T>C (p.Ile275Thr) |
single nucleotide variant |
Fanconi anemia [RCV000529696]|Fanconi anemia, complementation group I [RCV001118938]|not provided [RCV000523947] |
Chr15:89268467 [GRCh38] Chr15:89811698 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3651+19G>A |
single nucleotide variant |
not specified [RCV000248162] |
Chr15:89307691 [GRCh38] Chr15:89850922 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.545+30G>A |
single nucleotide variant |
not specified [RCV000248274] |
Chr15:89263490 [GRCh38] Chr15:89806721 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) |
single nucleotide variant |
Fanconi anemia [RCV000300610]|Fanconi anemia, complementation group I [RCV001094451] |
Chr15:89276774 [GRCh38] Chr15:89820005 [GRCh37] Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002693.2(POLG):c.3644-116T>C |
single nucleotide variant |
Fanconi anemia [RCV000300357]|Fanconi anemia, complementation group I [RCV001116319]|POLG-Related Spectrum Disorders [RCV000359680] |
Chr15:89316943 [GRCh38] Chr15:89860174 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.*63A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000300537]|POLG-Related Spectrum Disorders [RCV000355378] |
Chr15:89316688 [GRCh38] Chr15:89859919 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3644-99C>T |
single nucleotide variant |
Fanconi anemia [RCV000335149]|Fanconi anemia, complementation group I [RCV001116318]|POLG-Related Spectrum Disorders [RCV000396648]|not provided [RCV000835404] |
Chr15:89316926 [GRCh38] Chr15:89860157 [GRCh37] Chr15:15q26.1 |
benign|likely benign|uncertain significance |
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000304024] |
Chr15:89294977 [GRCh38] Chr15:89838208 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) |
single nucleotide variant |
Fanconi anemia [RCV000398337]|Fanconi anemia, complementation group I [RCV001094271] |
Chr15:89247664 [GRCh38] Chr15:89790895 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000268016]|Fanconi anemia, complementation group I [RCV000763985] |
Chr15:89261842 [GRCh38] Chr15:89805073 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000286695] |
Chr15:89312957 [GRCh38] Chr15:89856188 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) |
single nucleotide variant |
Fanconi anemia [RCV000305871] |
Chr15:89278704 [GRCh38] Chr15:89821935 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.*30G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001121230]|POLG-Related Spectrum Disorders [RCV000381450]|Progressive sclerosing poliodystrophy [RCV000758402] |
Chr15:89316721 [GRCh38] Chr15:89859952 [GRCh37] Chr15:15q26.1 |
benign|likely benign|uncertain significance |
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) |
single nucleotide variant |
Fanconi anemia [RCV001213730]|Fanconi anemia, complementation group I [RCV000312524] |
Chr15:89315361 [GRCh38] Chr15:89858592 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000293402] |
Chr15:89268492 [GRCh38] Chr15:89811723 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) |
single nucleotide variant |
Fanconi anemia [RCV000294568]|Fanconi anemia, complementation group I [RCV001094369] |
Chr15:89274303 [GRCh38] Chr15:89817534 [GRCh37] Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) |
single nucleotide variant |
Fanconi anemia [RCV000277965]|Fanconi anemia, complementation group I [RCV001094314] |
Chr15:89290247 [GRCh38] Chr15:89833478 [GRCh37] Chr15:15q26.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002693.2(POLG):c.3643+258A>G |
single nucleotide variant |
Fanconi anemia [RCV000328504]|Fanconi anemia, complementation group I [RCV001117757]|POLG-Related Spectrum Disorders [RCV000364559]|not provided [RCV000840824] |
Chr15:89317118 [GRCh38] Chr15:89860349 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.3721-15G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000341754] |
Chr15:89314597 [GRCh38] Chr15:89857828 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) |
single nucleotide variant |
Fanconi anemia [RCV000263354]|Fanconi anemia, complementation group I [RCV001094373] |
Chr15:89305395 [GRCh38] Chr15:89848626 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3644-72C>A |
single nucleotide variant |
Fanconi anemia [RCV000280138]|Fanconi anemia, complementation group I [RCV001116316]|POLG-Related Spectrum Disorders [RCV001116317] |
Chr15:89316899 [GRCh38] Chr15:89860130 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_002693.2(POLG):c.*122G>A |
single nucleotide variant |
Fanconi anemia [RCV000354186]|Fanconi anemia, complementation group I [RCV001119231]|POLG-Related Spectrum Disorders [RCV000259330] |
Chr15:89316629 [GRCh38] Chr15:89859860 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.288+10C>T |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000321878] |
Chr15:89260853 [GRCh38] Chr15:89804084 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1512+3A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000366280] |
Chr15:89281303 [GRCh38] Chr15:89824534 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000323121] |
Chr15:89263454 [GRCh38] Chr15:89806685 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.-90T>C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000394238] |
Chr15:89243963 [GRCh38] Chr15:89787194 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) |
single nucleotide variant |
Fanconi anemia [RCV000325551]|Fanconi anemia, complementation group I [RCV001094275] |
Chr15:89281279 [GRCh38] Chr15:89824510 [GRCh37] Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) |
single nucleotide variant |
Fanconi anemia [RCV000348338]|Fanconi anemia, complementation group I [RCV001094368] |
Chr15:89268511 [GRCh38] Chr15:89811742 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000372074] |
Chr15:89305391 [GRCh38] Chr15:89848622 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1294-8C>T |
single nucleotide variant |
Fanconi anemia [RCV000397897]|Fanconi anemia, complementation group I [RCV001094453] |
Chr15:89278679 [GRCh38] Chr15:89821910 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) |
single nucleotide variant |
Fanconi anemia [RCV000397895]|Fanconi anemia, complementation group I [RCV001094450] |
Chr15:89276712 [GRCh38] Chr15:89819943 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002693.2(POLG):c.*44G>C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001121229]|POLG-Related Spectrum Disorders [RCV000326804] |
Chr15:89316707 [GRCh38] Chr15:89859938 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000373709] |
Chr15:89291622 [GRCh38] Chr15:89834853 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.*49dupG |
duplication |
POLG-Related Spectrum Disorders [RCV000320567] |
Chr15:89316702 [GRCh38] Chr15:89859933 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) |
single nucleotide variant |
Fanconi anemia [RCV000374759]|Fanconi anemia, complementation group I [RCV001094372] |
Chr15:89292723 [GRCh38] Chr15:89835954 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) |
single nucleotide variant |
Fanconi anemia [RCV000309949]|Fanconi anemia, complementation group I [RCV001094279] |
Chr15:89299809 [GRCh38] Chr15:89843040 [GRCh37] Chr15:15q26.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000377858] |
Chr15:89306057 [GRCh38] Chr15:89849288 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.976-13A>T |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000403770] |
Chr15:89274155 [GRCh38] Chr15:89817386 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) |
single nucleotide variant |
Fanconi anemia [RCV000355478]|Fanconi anemia, complementation group I [RCV001094452] |
Chr15:89276777 [GRCh38] Chr15:89820008 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) |
single nucleotide variant |
Fanconi anemia [RCV000405113]|Fanconi anemia, complementation group I [RCV001094320] |
Chr15:89315311 [GRCh38] Chr15:89858542 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002693.2(POLG):c.3644-16T>C |
single nucleotide variant |
Fanconi anemia [RCV000405320]|Fanconi anemia, complementation group I [RCV001116315]|Progressive sclerosing poliodystrophy [RCV000758387]|not specified [RCV000432859] |
Chr15:89316843 [GRCh38] Chr15:89860074 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_002693.2(POLG):c.*49dup |
duplication |
Fanconi anemia [RCV000265494]|POLG-Related Spectrum Disorders [RCV000320567] |
Chr15:89316701..89316702 [GRCh38] Chr15:89859932..89859933 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000311735]|not provided [RCV000868341] |
Chr15:89300352 [GRCh38] Chr15:89843583 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000356939] |
Chr15:89260751 [GRCh38] Chr15:89803982 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.546-6C>T |
single nucleotide variant |
Fanconi anemia [RCV001211026]|Fanconi anemia, complementation group I [RCV000382136] |
Chr15:89263897 [GRCh38] Chr15:89807128 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) |
single nucleotide variant |
Fanconi anemia [RCV000382339]|Fanconi anemia, complementation group I [RCV001094280] |
Chr15:89314612 [GRCh38] Chr15:89857843 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1113-10G>C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000335630] |
Chr15:89276701 [GRCh38] Chr15:89819932 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) |
single nucleotide variant |
Fanconi anemia [RCV000360604]|Fanconi anemia, complementation group I [RCV001094454]|not specified [RCV000504421] |
Chr15:89278719 [GRCh38] Chr15:89821950 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) |
single nucleotide variant |
Fanconi anemia [RCV000386353]|Fanconi anemia, complementation group I [RCV001094313] |
Chr15:89285198 [GRCh38] Chr15:89828429 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) |
single nucleotide variant |
Fanconi anemia [RCV000317528]|Fanconi anemia, complementation group I [RCV001094318] |
Chr15:89305159 [GRCh38] Chr15:89848390 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002693.2(POLG):c.3644-184T>C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117756]|POLG-Related Spectrum Disorders [RCV000363254] |
Chr15:89317011 [GRCh38] Chr15:89860242 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.*614T>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000268741] |
Chr15:89317073 [GRCh38] Chr15:89860304 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) |
single nucleotide variant |
Fanconi anemia [RCV000364663]|Fanconi anemia, complementation group I [RCV001094315] |
Chr15:89299931 [GRCh38] Chr15:89843162 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3665G>A (p.Ser1222Asn) |
single nucleotide variant |
Fanconi anemia [RCV000526853] |
Chr15:89312917 [GRCh38] Chr15:89856148 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.158-2A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000490489] |
Chr15:89260711 [GRCh38] Chr15:89803942 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.1(FANCI):c.-72C>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000315198] |
Chr15:89243981 [GRCh38] Chr15:89787212 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3644-178_3644-176dupAGA |
duplication |
POLG-Related Spectrum Disorders [RCV000303955] |
Chr15:89317003..89317005 [GRCh38] Chr15:89860234..89860236 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1890+3A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000333037] |
Chr15:89290284 [GRCh38] Chr15:89833515 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000318623] |
Chr15:89305401 [GRCh38] Chr15:89848632 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2169+12G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000284986] |
Chr15:89292876 [GRCh38] Chr15:89836107 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3105-11T>C |
single nucleotide variant |
Fanconi anemia [RCV000281377]|POLG-Related Spectrum Disorders [RCV000284559]|Progressive sclerosing poliodystrophy [RCV000758546]|not specified [RCV000153754] |
Chr15:89319110 [GRCh38] Chr15:89862341 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.-23G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000369856] |
Chr15:89244030 [GRCh38] Chr15:89787261 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000338856] |
Chr15:89292716 [GRCh38] Chr15:89835947 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.3636+17_3636+19del |
microsatellite |
Fanconi anemia [RCV000287731] |
Chr15:89314720..89314722 [GRCh38] Chr15:89857951..89857953 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.606C>T (p.Phe202=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000287944] |
Chr15:89263963 [GRCh38] Chr15:89807194 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000357948]|Fanconi anemia, complementation group I [RCV001094274] |
Chr15:89261588 [GRCh38] Chr15:89804819 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.3745-84_3745-81dup |
duplication |
Fanconi anemia [RCV000394228]|POLG-Related Spectrum Disorders [RCV000313257] |
Chr15:89316309..89316310 [GRCh38] Chr15:89859540..89859541 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) |
single nucleotide variant |
Association with valproate-induced liver toxicity [RCV000999632]|Fanconi anemia [RCV000386578]|Mitochondrial diseases [RCV000020476]|POLG-Related Spectrum Disorders [RCV001119316]|Progressive sclerosing poliodystrophy [RCV000469563]|Progressive sclerosing poliodystrophy [RCV000755650]|Seizures [RCV000715555]|none provided [RCV001283131]|not provided [RCV000676317]|not specified [RCV000118018] |
Chr15:89318595 [GRCh38] Chr15:89861826 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) |
single nucleotide variant |
Fanconi anemia [RCV000338726]|POLG-Related Spectrum Disorders [RCV000341944]|Progressive sclerosing poliodystrophy [RCV000467151]|Seizures [RCV000715617]|none provided [RCV001282629]|not provided [RCV000676320]|not specified [RCV000118015] |
Chr15:89320789 [GRCh38] Chr15:89864020 [GRCh37] Chr15:15q26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002693.2(POLG):c.*438_*441dupATCT |
duplication |
POLG-Related Spectrum Disorders [RCV000313257] |
Chr15:89316310..89316313 [GRCh38] Chr15:89859541..89859544 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3644-178_3644-176dup |
duplication |
Fanconi anemia [RCV000396655]|POLG-Related Spectrum Disorders [RCV000303955] |
Chr15:89317002..89317003 [GRCh38] Chr15:89860233..89860234 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3816+15A>T |
single nucleotide variant |
Fanconi anemia [RCV000347620]|Fanconi anemia, complementation group I [RCV001117647]|POLG-Related Spectrum Disorders [RCV000295709] |
Chr15:89314722 [GRCh38] Chr15:89857953 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.328A>G (p.Asn110Asp) |
single nucleotide variant |
not provided [RCV000519865] |
Chr15:89261624 [GRCh38] Chr15:89804855 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.669+17_669+18del |
deletion |
Fanconi anemia [RCV000328875] |
Chr15:89264042..89264043 [GRCh38] Chr15:89807273..89807274 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001120904] |
Chr15:89276861 [GRCh38] Chr15:89820092 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile) |
single nucleotide variant |
Fanconi anemia [RCV001202148]|Fanconi anemia, complementation group I [RCV001121006] |
Chr15:89292957 [GRCh38] Chr15:89836188 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1810A>G (p.Met604Val) |
single nucleotide variant |
Fanconi anemia [RCV000527436] |
Chr15:89285207 [GRCh38] Chr15:89828438 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2520C>G (p.Arg840=) |
single nucleotide variant |
Fanconi anemia [RCV000531769] |
Chr15:89294978 [GRCh38] Chr15:89838209 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) |
single nucleotide variant |
Fanconi anemia [RCV000554248]|Fanconi anemia, complementation group I [RCV000765225] |
Chr15:89292975 [GRCh38] Chr15:89836206 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2326A>G (p.Met776Val) |
single nucleotide variant |
Fanconi anemia [RCV000699113]|not provided [RCV000522385] |
Chr15:89293867 [GRCh38] Chr15:89837098 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2318G>A (p.Ser773Asn) |
single nucleotide variant |
Fanconi anemia [RCV000532557] |
Chr15:89293859 [GRCh38] Chr15:89837090 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.1950T>A (p.Cys650Ter) |
single nucleotide variant |
not provided [RCV000722851] |
Chr15:89291672 [GRCh38] Chr15:89834903 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 |
copy number gain |
not provided [RCV000415836] |
Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
NM_001113378.1(FANCI):c.2026G>T (p.Ala676Ser) |
single nucleotide variant |
Fanconi anemia [RCV000541408] |
Chr15:89292721 [GRCh38] Chr15:89835952 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3680C>A (p.Thr1227Asn) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758338]|not provided [RCV000734457] |
Chr15:89316791 [GRCh38] Chr15:89860022 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1735G>A (p.Ala579Thr) |
single nucleotide variant |
Fanconi anemia [RCV000537549] |
Chr15:89285132 [GRCh38] Chr15:89828363 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) |
single nucleotide variant |
Fanconi anemia [RCV000537611]|Fanconi anemia, complementation group I [RCV000765223] |
Chr15:89290241 [GRCh38] Chr15:89833472 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.394A>G (p.Ile132Val) |
single nucleotide variant |
Fanconi anemia [RCV000555553] |
Chr15:89261690 [GRCh38] Chr15:89804921 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.290C>T (p.Ala97Val) |
single nucleotide variant |
Fanconi anemia [RCV000535517] |
Chr15:89261586 [GRCh38] Chr15:89804817 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1727A>G (p.Asn576Ser) |
single nucleotide variant |
Fanconi anemia [RCV000558988] |
Chr15:89285124 [GRCh38] Chr15:89828355 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.3007-2A>T |
single nucleotide variant |
not provided [RCV000723035] |
Chr15:89305339 [GRCh38] Chr15:89848570 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 |
copy number gain |
See cases [RCV000449119] |
Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.2519G>T (p.Arg840Leu) |
single nucleotide variant |
Fanconi anemia [RCV000553208] |
Chr15:89294977 [GRCh38] Chr15:89838208 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 |
copy number gain |
See cases [RCV000447123] |
Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) |
single nucleotide variant |
Fanconi anemia [RCV001086071]|Fanconi anemia, complementation group I [RCV001117440]|not provided [RCV000443415] |
Chr15:89291615 [GRCh38] Chr15:89834846 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_002693.2(POLG):c.*4T>C |
single nucleotide variant |
not specified [RCV000431158] |
Chr15:89316747 [GRCh38] Chr15:89859978 [GRCh37] Chr15:15q26.1 |
likely benign |
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 |
copy number gain |
See cases [RCV000445705] |
Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 |
copy number gain |
See cases [RCV000448044] |
Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 |
copy number loss |
See cases [RCV000448680] |
Chr15:88295992..94215607 [GRCh37] Chr15:15q25.3-26.1 |
pathogenic |
NM_001113378.1(FANCI):c.2023T>C (p.Leu675=) |
single nucleotide variant |
Fanconi anemia [RCV000473908] |
Chr15:89292718 [GRCh38] Chr15:89835949 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.1704T>C (p.His568=) |
single nucleotide variant |
Fanconi anemia [RCV000459160] |
Chr15:89285101 [GRCh38] Chr15:89828332 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) |
single nucleotide variant |
Fanconi anemia [RCV000462978]|Fanconi anemia, complementation group I [RCV001121116]|not specified [RCV000503400] |
Chr15:89306182 [GRCh38] Chr15:89849413 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) |
single nucleotide variant |
Fanconi anemia [RCV000466767]|Fanconi anemia, complementation group I [RCV001119038] |
Chr15:89291685 [GRCh38] Chr15:89834916 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) |
single nucleotide variant |
Fanconi anemia [RCV000466858]|Fanconi anemia, complementation group I [RCV000763988]|not provided [RCV000658083] |
Chr15:89281200 [GRCh38] Chr15:89824431 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) |
single nucleotide variant |
Fanconi anemia [RCV000470517]|Fanconi anemia, complementation group I [RCV001115869] |
Chr15:89260713 [GRCh38] Chr15:89803944 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.2507A>G (p.Asn836Ser) |
single nucleotide variant |
Fanconi anemia [RCV000463193]|Fanconi anemia, complementation group I [RCV001121010] |
Chr15:89294965 [GRCh38] Chr15:89838196 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1102G>A (p.Val368Met) |
single nucleotide variant |
Fanconi anemia [RCV000463194] |
Chr15:89274294 [GRCh38] Chr15:89817525 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) |
single nucleotide variant |
Fanconi anemia [RCV000467025] |
Chr15:89314671 [GRCh38] Chr15:89857902 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) |
single nucleotide variant |
Fanconi anemia [RCV000459556]|Fanconi anemia, complementation group I [RCV001117325] |
Chr15:89263443 [GRCh38] Chr15:89806674 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) |
single nucleotide variant |
Fanconi anemia [RCV000463423]|Fanconi anemia, complementation group I [RCV001116207] |
Chr15:89312912 [GRCh38] Chr15:89856143 [GRCh37] Chr15:15q26.1 |
benign|uncertain significance |
NM_001113378.1(FANCI):c.1564C>T (p.Arg522Trp) |
single nucleotide variant |
Fanconi anemia [RCV000474593] |
Chr15:89281816 [GRCh38] Chr15:89825047 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NC_000015.10:g.(?_89247629)_(89317131_?)del |
deletion |
Fanconi anemia [RCV000474762] |
Chr15:89247629..89317131 [GRCh38] Chr15:89790860..89860362 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.2033A>G (p.Tyr678Cys) |
single nucleotide variant |
Fanconi anemia [RCV000470006] |
Chr15:89292728 [GRCh38] Chr15:89835959 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2204T>C (p.Ile735Thr) |
single nucleotide variant |
Fanconi anemia [RCV000471427] |
Chr15:89292976 [GRCh38] Chr15:89836207 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1699-7C>A |
single nucleotide variant |
Fanconi anemia [RCV000471365]|Fanconi anemia, complementation group I [RCV001115980] |
Chr15:89285089 [GRCh38] Chr15:89828320 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.1699-3C>G |
single nucleotide variant |
Fanconi anemia [RCV000456710] |
Chr15:89285093 [GRCh38] Chr15:89828324 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) |
single nucleotide variant |
Fanconi anemia [RCV000460384]|Fanconi anemia, complementation group I [RCV000502163] |
Chr15:89281249 [GRCh38] Chr15:89824480 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) |
single nucleotide variant |
Fanconi anemia [RCV000467934]|Fanconi anemia, complementation group A [RCV000989378] |
Chr15:89312958 [GRCh38] Chr15:89856189 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.83A>G (p.Asp28Gly) |
single nucleotide variant |
Fanconi anemia [RCV000471618] |
Chr15:89247730 [GRCh38] Chr15:89790961 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) |
single nucleotide variant |
Fanconi anemia [RCV000475763]|Fanconi anemia, complementation group I [RCV000765226] |
Chr15:89293975 [GRCh38] Chr15:89837206 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1923G>A (p.Leu641=) |
single nucleotide variant |
not provided [RCV000475808] |
Chr15:89291645 [GRCh38] Chr15:89834876 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3493del (p.Asp1165fs) |
deletion |
Fanconi anemia [RCV000457201]|Fanconi anemia, complementation group I [RCV001194983] |
Chr15:89306149 [GRCh38] Chr15:89849380 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.2813A>G (p.Asp938Gly) |
single nucleotide variant |
Fanconi anemia [RCV000475877] |
Chr15:89300309 [GRCh38] Chr15:89843540 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1355C>T (p.Ala452Val) |
single nucleotide variant |
not provided [RCV000485704] |
Chr15:89278748 [GRCh38] Chr15:89821979 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2781T>G (p.Ile927Met) |
single nucleotide variant |
Fanconi anemia [RCV000457383] |
Chr15:89299944 [GRCh38] Chr15:89843175 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2017C>T (p.His673Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000472349] |
Chr15:89292712 [GRCh38] Chr15:89835943 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2131A>T (p.Asn711Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000465099] |
Chr15:89292826 [GRCh38] Chr15:89836057 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) |
single nucleotide variant |
Fanconi anemia [RCV000472649]|Fanconi anemia, complementation group I [RCV001194992] |
Chr15:89276862 [GRCh38] Chr15:89820093 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3868A>G (p.Lys1290Glu) |
single nucleotide variant |
Fanconi anemia [RCV000476438] |
Chr15:89315333 [GRCh38] Chr15:89858564 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1564C>A (p.Arg522=) |
single nucleotide variant |
Fanconi anemia [RCV000461592] |
Chr15:89281816 [GRCh38] Chr15:89825047 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1278G>T (p.Leu426=) |
single nucleotide variant |
Fanconi anemia [RCV000461745] |
Chr15:89276876 [GRCh38] Chr15:89820107 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) |
single nucleotide variant |
Fanconi anemia [RCV000476737]|Fanconi anemia, complementation group I [RCV000765231] |
Chr15:89316418 [GRCh38] Chr15:89859649 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) |
single nucleotide variant |
Fanconi anemia [RCV000461896]|Fanconi anemia, complementation group I [RCV001121008] |
Chr15:89293947 [GRCh38] Chr15:89837178 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.2097C>T (p.Tyr699=) |
single nucleotide variant |
Fanconi anemia [RCV000458350]|not specified [RCV000502848] |
Chr15:89292792 [GRCh38] Chr15:89836023 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.1112+3A>G |
single nucleotide variant |
Fanconi anemia [RCV000458366] |
Chr15:89274307 [GRCh38] Chr15:89817538 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2936G>T (p.Ser979Ile) |
single nucleotide variant |
Fanconi anemia [RCV000462123] |
Chr15:89301372 [GRCh38] Chr15:89844603 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1654A>C (p.Ser552Arg) |
single nucleotide variant |
Fanconi anemia [RCV000477159] |
Chr15:89283206 [GRCh38] Chr15:89826437 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys) |
inversion |
Fanconi anemia [RCV000458468] |
Chr15:89315371..89315372 [GRCh38] Chr15:89858602..89858603 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1656C>G (p.Ser552Arg) |
single nucleotide variant |
Fanconi anemia [RCV000462307] |
Chr15:89283208 [GRCh38] Chr15:89826439 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.326C>G (p.Ala109Gly) |
single nucleotide variant |
Fanconi anemia [RCV000466037]|Microcephaly [RCV001252857] |
Chr15:89261622 [GRCh38] Chr15:89804853 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) |
single nucleotide variant |
Fanconi anemia [RCV000469963]|Fanconi anemia, complementation group I [RCV000765228] |
Chr15:89301396 [GRCh38] Chr15:89844627 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1200T>C (p.Asp400=) |
single nucleotide variant |
Fanconi anemia [RCV000470108] |
Chr15:89276798 [GRCh38] Chr15:89820029 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.550G>C (p.Val184Leu) |
single nucleotide variant |
Fanconi anemia [RCV000801500]|not specified [RCV000500866] |
Chr15:89263907 [GRCh38] Chr15:89807138 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2481A>T (p.Glu827Asp) |
single nucleotide variant |
not specified [RCV000501253] |
Chr15:89294939 [GRCh38] Chr15:89838170 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1534T>G (p.Ser512Ala) |
single nucleotide variant |
not specified [RCV000503633] |
Chr15:89281786 [GRCh38] Chr15:89825017 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3721-7C>T |
single nucleotide variant |
not provided [RCV000865535]|not specified [RCV000503913] |
Chr15:89314605 [GRCh38] Chr15:89857836 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.3419C>T (p.Thr1140Ile) |
single nucleotide variant |
Fanconi anemia [RCV001223238]|not specified [RCV000501811] |
Chr15:89306076 [GRCh38] Chr15:89849307 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.451C>G (p.Leu151Val) |
single nucleotide variant |
not specified [RCV000503920] |
Chr15:89261826 [GRCh38] Chr15:89805057 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) |
single nucleotide variant |
Fanconi anemia [RCV000550556]|not specified [RCV000499688] |
Chr15:89303912 [GRCh38] Chr15:89847143 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.3505A>G (p.Met1169Val) |
single nucleotide variant |
not specified [RCV000501944] |
Chr15:89306162 [GRCh38] Chr15:89849393 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2349C>A (p.Asp783Glu) |
single nucleotide variant |
not specified [RCV000499788] |
Chr15:89293890 [GRCh38] Chr15:89837121 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1241C>T (p.Pro414Leu) |
single nucleotide variant |
not specified [RCV000502333] |
Chr15:89276839 [GRCh38] Chr15:89820070 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.96_98del (p.Leu33del) |
deletion |
not specified [RCV000500055] |
Chr15:89258713..89258715 [GRCh38] Chr15:89801944..89801946 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3656A>G (p.Asp1219Gly) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001039436]|not provided [RCV000497988] |
Chr15:89316815 [GRCh38] Chr15:89860046 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.2833G>C (p.Glu945Gln) |
single nucleotide variant |
Fanconi anemia [RCV000630843]|not specified [RCV000502874] |
Chr15:89300329 [GRCh38] Chr15:89843560 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2547= (p.Lys849=) |
single nucleotide variant |
Fanconi anemia [RCV000860197]|not specified [RCV000508540] |
Chr15:89295005 [GRCh38] Chr15:89838236 [GRCh37] Chr15:15q26.1 |
benign |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 |
copy number gain |
See cases [RCV000511629] |
Chr15:86899001..98734014 [GRCh37] Chr15:15q25.3-26.3 |
likely pathogenic |
NM_001113378.1(FANCI):c.406G>A (p.Ala136Thr) |
single nucleotide variant |
Fanconi anemia [RCV000699115] |
Chr15:89261702 [GRCh38] Chr15:89804933 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3886A>G (p.Met1296Val) |
single nucleotide variant |
Fanconi anemia [RCV000630854] |
Chr15:89315351 [GRCh38] Chr15:89858582 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3384G>A (p.Gln1128=) |
single nucleotide variant |
Fanconi anemia [RCV000630978] |
Chr15:89306041 [GRCh38] Chr15:89849272 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) |
single nucleotide variant |
Fanconi anemia [RCV000631005]|Fanconi anemia, complementation group I [RCV001115981] |
Chr15:89285100 [GRCh38] Chr15:89828331 [GRCh37] Chr15:15q26.1 |
benign|likely benign|uncertain significance |
NM_001113378.1(FANCI):c.1294-9_1294-8insA |
insertion |
Fanconi anemia [RCV000631034] |
Chr15:89278678..89278679 [GRCh38] Chr15:89821909..89821910 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.756-4T>G |
single nucleotide variant |
Fanconi anemia [RCV000555933] |
Chr15:89268395 [GRCh38] Chr15:89811626 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.2348A>G (p.Asp783Gly) |
single nucleotide variant |
Fanconi anemia [RCV000630957] |
Chr15:89293889 [GRCh38] Chr15:89837120 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) |
single nucleotide variant |
Fanconi anemia [RCV000630965]|Fanconi anemia, complementation group I [RCV001119037] |
Chr15:89291661 [GRCh38] Chr15:89834892 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) |
single nucleotide variant |
Fanconi anemia [RCV000631025] |
Chr15:89315299 [GRCh38] Chr15:89858530 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3652-9T>C |
single nucleotide variant |
Fanconi anemia [RCV000631030] |
Chr15:89312895 [GRCh38] Chr15:89856126 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.670-8_670-6del |
deletion |
Fanconi anemia [RCV000539796] |
Chr15:89264512..89264514 [GRCh38] Chr15:89807743..89807745 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_018193.3(FANCI):c.557T>C (p.Leu186Pro) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000767960] |
Chr15:89263914 [GRCh38] Chr15:89807145 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) |
single nucleotide variant |
Fanconi anemia [RCV000541605]|Fanconi anemia, complementation group I [RCV001117648] |
Chr15:89315297 [GRCh38] Chr15:89858528 [GRCh37] Chr15:15q26.1 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
NM_001113378.1(FANCI):c.2817G>T (p.Lys939Asn) |
single nucleotide variant |
Fanconi anemia [RCV000556834]|not specified [RCV001194161] |
Chr15:89300313 [GRCh38] Chr15:89843544 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.3310A>C (p.Thr1104Pro) |
single nucleotide variant |
Fanconi anemia [RCV000534723] |
Chr15:89305659 [GRCh38] Chr15:89848890 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3716del (p.Pro1239fs) |
deletion |
Progressive sclerosing poliodystrophy [RCV000633555] |
Chr15:89316755 [GRCh38] Chr15:89859986 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.793C>T (p.Arg265Cys) |
single nucleotide variant |
Fanconi anemia [RCV000630835] |
Chr15:89268436 [GRCh38] Chr15:89811667 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1556T>C (p.Leu519Pro) |
single nucleotide variant |
Fanconi anemia [RCV000630887] |
Chr15:89281808 [GRCh38] Chr15:89825039 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1420C>A (p.Leu474Ile) |
single nucleotide variant |
Fanconi anemia [RCV000630919] |
Chr15:89281208 [GRCh38] Chr15:89824439 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1655G>A (p.Ser552Asn) |
single nucleotide variant |
Fanconi anemia [RCV000630842] |
Chr15:89283207 [GRCh38] Chr15:89826438 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.504-3C>T |
single nucleotide variant |
Fanconi anemia [RCV000630886] |
Chr15:89263416 [GRCh38] Chr15:89806647 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.2675_2689delinsTTG (p.Thr892_Phe897delinsIleVal) |
indel |
Fanconi anemia [RCV000630921] |
Chr15:89300351..89300365 [GRCh38] Chr15:89843582..89843596 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) |
single nucleotide variant |
Fanconi anemia [RCV000540824]|not provided [RCV000658723] |
Chr15:89316419 [GRCh38] Chr15:89859650 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.2063G>T (p.Gly688Val) |
single nucleotide variant |
Fanconi anemia [RCV000556110] |
Chr15:89292758 [GRCh38] Chr15:89835989 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1676G>T (p.Ser559Ile) |
single nucleotide variant |
Fanconi anemia [RCV000533835] |
Chr15:89283228 [GRCh38] Chr15:89826459 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2907A>C (p.Leu969Phe) |
single nucleotide variant |
Fanconi anemia [RCV000557194] |
Chr15:89301343 [GRCh38] Chr15:89844574 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3652-6C>G |
single nucleotide variant |
Fanconi anemia [RCV000630866] |
Chr15:89312898 [GRCh38] Chr15:89856129 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3428C>T (p.Thr1143Ile) |
single nucleotide variant |
Fanconi anemia [RCV000630884] |
Chr15:89306085 [GRCh38] Chr15:89849316 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3652-10A>G |
single nucleotide variant |
Fanconi anemia [RCV000631035]|Fanconi anemia, complementation group I [RCV001121122] |
Chr15:89312894 [GRCh38] Chr15:89856125 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.1(FANCI):c.284T>A (p.Leu95Gln) |
single nucleotide variant |
Fanconi anemia [RCV000536573] |
Chr15:89260839 [GRCh38] Chr15:89804070 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2183A>G (p.Asp728Gly) |
single nucleotide variant |
Fanconi anemia [RCV000540362]|Fanconi anemia, complementation group I [RCV001121005] |
Chr15:89292955 [GRCh38] Chr15:89836186 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1822-7del |
deletion |
Fanconi anemia [RCV000631016] |
Chr15:89290205 [GRCh38] Chr15:89833436 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3900G>C (p.Glu1300Asp) |
single nucleotide variant |
Fanconi anemia [RCV000630826] |
Chr15:89315365 [GRCh38] Chr15:89858596 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2300G>T (p.Arg767Met) |
single nucleotide variant |
Fanconi anemia [RCV000630838] |
Chr15:89293841 [GRCh38] Chr15:89837072 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) |
single nucleotide variant |
Fanconi anemia [RCV000630845]|Fanconi anemia, complementation group I [RCV000765229] |
Chr15:89301428 [GRCh38] Chr15:89844659 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3377C>G (p.Pro1126Arg) |
single nucleotide variant |
Fanconi anemia [RCV000630864] |
Chr15:89306034 [GRCh38] Chr15:89849265 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2849G>T (p.Ser950Ile) |
single nucleotide variant |
Fanconi anemia [RCV000630926] |
Chr15:89300345 [GRCh38] Chr15:89843576 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.157+7A>G |
single nucleotide variant |
Fanconi anemia [RCV000630935] |
Chr15:89258783 [GRCh38] Chr15:89802014 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3056G>A (p.Arg1019Gln) |
single nucleotide variant |
Fanconi anemia [RCV000685878] |
Chr15:89303913 [GRCh38] Chr15:89847144 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 |
copy number gain |
not provided [RCV000683703] |
Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 |
copy number gain |
not provided [RCV000683718] |
Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 |
copy number gain |
not provided [RCV000683710] |
Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_002693.2(POLG):c.3662A>C (p.Tyr1221Ser) |
single nucleotide variant |
not provided [RCV000712806] |
Chr15:89316809 [GRCh38] Chr15:89860040 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) |
single nucleotide variant |
Fanconi anemia [RCV000698535]|Fanconi anemia, complementation group I [RCV000765227] |
Chr15:89295072 [GRCh38] Chr15:89838303 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3186+3A>G |
single nucleotide variant |
Fanconi anemia [RCV000698985] |
Chr15:89305245 [GRCh38] Chr15:89848476 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.217A>T (p.Ile73Phe) |
single nucleotide variant |
Fanconi anemia [RCV000707454] |
Chr15:89260772 [GRCh38] Chr15:89804003 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly) |
single nucleotide variant |
Fanconi anemia [RCV000704943]|Fanconi anemia, complementation group I [RCV000765230] |
Chr15:89306156 [GRCh38] Chr15:89849387 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1418T>G (p.Val473Gly) |
single nucleotide variant |
Fanconi anemia [RCV000705220] |
Chr15:89281206 [GRCh38] Chr15:89824437 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3712G>C (p.Gly1238Arg) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000699336] |
Chr15:89316759 [GRCh38] Chr15:89859990 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3435C>G (p.Phe1145Leu) |
single nucleotide variant |
Fanconi anemia [RCV000689360] |
Chr15:89306092 [GRCh38] Chr15:89849323 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1765G>A (p.Asp589Asn) |
single nucleotide variant |
Fanconi anemia [RCV000700338] |
Chr15:89285162 [GRCh38] Chr15:89828393 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys) |
single nucleotide variant |
Fanconi anemia [RCV000692972]|Fanconi anemia, complementation group I [RCV000765224] |
Chr15:89292766 [GRCh38] Chr15:89835997 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1739A>G (p.Asn580Ser) |
single nucleotide variant |
Fanconi anemia [RCV000693233] |
Chr15:89285136 [GRCh38] Chr15:89828367 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3053G>A (p.Ser1018Asn) |
single nucleotide variant |
Fanconi anemia [RCV000693310] |
Chr15:89303910 [GRCh38] Chr15:89847141 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.92A>G (p.Asn31Ser) |
single nucleotide variant |
Fanconi anemia [RCV000690795] |
Chr15:89258711 [GRCh38] Chr15:89801942 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.3482del (p.Lys1161fs) |
deletion |
Fanconi anemia [RCV000705229] |
Chr15:89312913 [GRCh38] Chr15:89856144 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.3255T>G (p.Cys1085Trp) |
single nucleotide variant |
Fanconi anemia [RCV000689000] |
Chr15:89305409 [GRCh38] Chr15:89848640 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2098G>A (p.Glu700Lys) |
single nucleotide variant |
Fanconi anemia [RCV000705998] |
Chr15:89292793 [GRCh38] Chr15:89836024 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2455A>G (p.Arg819Gly) |
single nucleotide variant |
Fanconi anemia [RCV000691970] |
Chr15:89293996 [GRCh38] Chr15:89837227 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser) |
single nucleotide variant |
Fanconi anemia [RCV000697107]|Fanconi anemia, complementation group I [RCV000763986] |
Chr15:89273413 [GRCh38] Chr15:89816644 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2273T>G (p.Phe758Cys) |
single nucleotide variant |
Fanconi anemia [RCV000706375] |
Chr15:89293045 [GRCh38] Chr15:89836276 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2393A>G (p.Asn798Ser) |
single nucleotide variant |
Fanconi anemia [RCV000706377] |
Chr15:89293934 [GRCh38] Chr15:89837165 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.2332dup (p.Tyr778fs) |
duplication |
not provided [RCV000722907] |
Chr15:89293871..89293872 [GRCh38] Chr15:89837102..89837103 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 |
copy number gain |
not provided [RCV000738864] |
Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_001113378.2(FANCI):c.883-9C>T |
single nucleotide variant |
Fanconi anemia [RCV000938698] |
Chr15:89273368 [GRCh38] Chr15:89816599 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val) |
single nucleotide variant |
Fanconi anemia [RCV001065643] |
Chr15:89263424 [GRCh38] Chr15:89806655 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys) |
single nucleotide variant |
Fanconi anemia [RCV001044865] |
Chr15:89261838 [GRCh38] Chr15:89805069 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001116208] |
Chr15:89312939 [GRCh38] Chr15:89856170 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001116211] |
Chr15:89314700 [GRCh38] Chr15:89857931 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117533] |
Chr15:89301413 [GRCh38] Chr15:89844644 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.363A>G (p.Leu121=) |
single nucleotide variant |
not provided [RCV000929426] |
Chr15:89261659 [GRCh38] Chr15:89804890 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.1146C>T (p.Leu382=) |
single nucleotide variant |
not provided [RCV000919768] |
Chr15:89276744 [GRCh38] Chr15:89819975 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.755+9T>C |
single nucleotide variant |
not provided [RCV000869393] |
Chr15:89264616 [GRCh38] Chr15:89807847 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=) |
single nucleotide variant |
not provided [RCV000863396] |
Chr15:89305170 [GRCh38] Chr15:89848401 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=) |
single nucleotide variant |
not provided [RCV000936818] |
Chr15:89305221 [GRCh38] Chr15:89848452 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.1821+9G>A |
single nucleotide variant |
not provided [RCV000877095] |
Chr15:89285227 [GRCh38] Chr15:89828458 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3330G>A (p.Val1110=) |
single nucleotide variant |
not provided [RCV000926627] |
Chr15:89305679 [GRCh38] Chr15:89848910 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=) |
single nucleotide variant |
not provided [RCV000865852] |
Chr15:89305364 [GRCh38] Chr15:89848595 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) |
single nucleotide variant |
Fanconi anemia [RCV000868876]|Fanconi anemia, complementation group I [RCV001120905] |
Chr15:89281186 [GRCh38] Chr15:89824417 [GRCh37] Chr15:15q26.1 |
likely benign|uncertain significance |
NM_001113378.2(FANCI):c.558G>C (p.Leu186=) |
single nucleotide variant |
not provided [RCV000929007] |
Chr15:89263915 [GRCh38] Chr15:89807146 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.976-5T>C |
single nucleotide variant |
Fanconi anemia [RCV000871773] |
Chr15:89274163 [GRCh38] Chr15:89817394 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3256-9T>C |
single nucleotide variant |
not provided [RCV000866204] |
Chr15:89305596 [GRCh38] Chr15:89848827 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3538-2A>T |
single nucleotide variant |
Fanconi anemia [RCV001053088] |
Chr15:89307474 [GRCh38] Chr15:89850705 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser) |
single nucleotide variant |
Fanconi anemia [RCV001053243] |
Chr15:89299815 [GRCh38] Chr15:89843046 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg) |
single nucleotide variant |
Fanconi anemia [RCV001071618] |
Chr15:89261600 [GRCh38] Chr15:89804831 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro) |
single nucleotide variant |
Fanconi anemia [RCV001059477] |
Chr15:89281253 [GRCh38] Chr15:89824484 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe) |
single nucleotide variant |
Fanconi anemia [RCV001048382] |
Chr15:89305408 [GRCh38] Chr15:89848639 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.*339dup |
duplication |
Progressive sclerosing poliodystrophy [RCV000758491] |
Chr15:89316797..89316798 [GRCh38] Chr15:89860028..89860029 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_018193.3(FANCI):c.1743A>C (p.Glu581Asp) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV000767961] |
Chr15:89285140 [GRCh38] Chr15:89828371 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.150C>T (p.Ile50=) |
single nucleotide variant |
not provided [RCV000933010] |
Chr15:89258769 [GRCh38] Chr15:89802000 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) |
single nucleotide variant |
not provided [RCV000875784] |
Chr15:89293875 [GRCh38] Chr15:89837106 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.324A>G (p.Leu108=) |
single nucleotide variant |
not provided [RCV000914686] |
Chr15:89261620 [GRCh38] Chr15:89804851 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3720+10T>C |
single nucleotide variant |
not provided [RCV000871623] |
Chr15:89312982 [GRCh38] Chr15:89856213 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.1112+8G>C |
single nucleotide variant |
not provided [RCV000872321] |
Chr15:89274312 [GRCh38] Chr15:89817543 [GRCh37] Chr15:15q26.1 |
likely benign |
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) |
copy number loss |
not provided [RCV000767759] |
Chr15:83883823..92165844 [GRCh37] Chr15:15q25.2-26.1 |
pathogenic |
NM_001113378.2(FANCI):c.669+8T>C |
single nucleotide variant |
Fanconi anemia [RCV000958381] |
Chr15:89264034 [GRCh38] Chr15:89807265 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.956T>C (p.Ile319Thr) |
single nucleotide variant |
Fanconi anemia [RCV000792994] |
Chr15:89273450 [GRCh38] Chr15:89816681 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2776A>C (p.Lys926Gln) |
single nucleotide variant |
Fanconi anemia [RCV000797203] |
Chr15:89299939 [GRCh38] Chr15:89843170 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3965C>T (p.Ala1322Val) |
single nucleotide variant |
Fanconi anemia [RCV000817573] |
Chr15:89316437 [GRCh38] Chr15:89859668 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1972A>T (p.Ile658Phe) |
single nucleotide variant |
Fanconi anemia [RCV000823437] |
Chr15:89291694 [GRCh38] Chr15:89834925 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3977G>T (p.Arg1326Met) |
single nucleotide variant |
Fanconi anemia [RCV000803126] |
Chr15:89316449 [GRCh38] Chr15:89859680 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3466G>C (p.Gly1156Arg) |
single nucleotide variant |
Fanconi anemia [RCV000794419]|Fanconi anemia, complementation group I [RCV001270866] |
Chr15:89306123 [GRCh38] Chr15:89849354 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3016A>G (p.Met1006Val) |
single nucleotide variant |
Fanconi anemia [RCV000816413] |
Chr15:89303873 [GRCh38] Chr15:89847104 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1867G>A (p.Val623Ile) |
single nucleotide variant |
Fanconi anemia [RCV000824459] |
Chr15:89290258 [GRCh38] Chr15:89833489 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NC_000015.10:g.(?_89290203)_(89291724_?)del |
deletion |
Fanconi anemia [RCV000807254] |
Chr15:89290203..89291724 [GRCh38] Chr15:89833434..89834955 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.3489_3492dup (p.Tyr1165fs) |
duplication |
Fanconi anemia [RCV000814808] |
Chr15:89312920..89312921 [GRCh38] Chr15:89856151..89856152 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.1250A>G (p.His417Arg) |
single nucleotide variant |
Fanconi anemia [RCV000800222] |
Chr15:89276848 [GRCh38] Chr15:89820079 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2:c.3643+257T>G |
single nucleotide variant |
not provided [RCV000840517] |
Chr15:89860350 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) |
microsatellite |
Fanconi anemia [RCV000791702] |
Chr15:89274219..89274221 [GRCh38] Chr15:89817450..89817452 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3643+226C>G |
single nucleotide variant |
not provided [RCV000836906] |
Chr15:89317150 [GRCh38] Chr15:89860381 [GRCh37] Chr15:15q26.1 |
benign |
NM_001113378.1(FANCI):c.3283G>A (p.Val1095Ile) |
single nucleotide variant |
Fanconi anemia [RCV000803983] |
Chr15:89305632 [GRCh38] Chr15:89848863 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2:c.3644-99C>T |
single nucleotide variant |
not provided [RCV000835404] |
Chr15:89860157 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3674A>G (p.Tyr1225Cys) |
single nucleotide variant |
Fanconi anemia [RCV000818806] |
Chr15:89312926 [GRCh38] Chr15:89856157 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3220A>T (p.Ile1074Leu) |
single nucleotide variant |
Fanconi anemia [RCV000806833] |
Chr15:89305374 [GRCh38] Chr15:89848605 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.329A>G (p.Asn110Ser) |
single nucleotide variant |
Fanconi anemia [RCV000804125] |
Chr15:89261625 [GRCh38] Chr15:89804856 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.475C>G (p.Gln159Glu) |
single nucleotide variant |
Fanconi anemia [RCV000807175] |
Chr15:89261850 [GRCh38] Chr15:89805081 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_018193.3(FANCI):c.2815_2819TCCTC[1] (p.Pro941fs) |
microsatellite |
Fanconi anemia [RCV000807393] |
Chr15:89301430..89301434 [GRCh38] Chr15:89844661..89844665 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.1(FANCI):c.2533G>A (p.Val845Ile) |
single nucleotide variant |
Fanconi anemia [RCV000791661] |
Chr15:89294991 [GRCh38] Chr15:89838222 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3505A>T (p.Met1169Leu) |
single nucleotide variant |
Fanconi anemia [RCV000824155] |
Chr15:89306162 [GRCh38] Chr15:89849393 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q26.1(chr15:89828317-89874912)x1 |
copy number loss |
not provided [RCV000847319] |
Chr15:89828317..89874912 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1531A>C (p.Met511Leu) |
single nucleotide variant |
Fanconi anemia [RCV000818536] |
Chr15:89281783 [GRCh38] Chr15:89825014 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2:c.3643+258A>G |
single nucleotide variant |
not provided [RCV000840824] |
Chr15:89860349 [GRCh37] Chr15:15q26.1 |
benign |
NM_002693.3(POLG):c.*420A>G |
single nucleotide variant |
POLG-Related Spectrum Disorders [RCV001117652] |
Chr15:89316331 [GRCh38] Chr15:89859562 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser) |
single nucleotide variant |
Fanconi anemia [RCV001067213] |
Chr15:89281765 [GRCh38] Chr15:89824996 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001116090] |
Chr15:89295047 [GRCh38] Chr15:89838278 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3187-3C>G |
single nucleotide variant |
Fanconi anemia [RCV001046225] |
Chr15:89305338 [GRCh38] Chr15:89848569 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.2(POLG):c.3643+180G>A |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000758413]|not provided [RCV000826748] |
Chr15:89317196 [GRCh38] Chr15:89860427 [GRCh37] Chr15:15q26.1 |
benign|likely benign |
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001119130] |
Chr15:89306100 [GRCh38] Chr15:89849331 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001118940] |
Chr15:89274244 [GRCh38] Chr15:89817475 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3162C>T (p.His1054=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001119127] |
Chr15:89305218 [GRCh38] Chr15:89848449 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.696A>T (p.Gly232=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117327] |
Chr15:89264548 [GRCh38] Chr15:89807779 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2845G>A (p.Val949Ile) |
single nucleotide variant |
Fanconi anemia [RCV000806618] |
Chr15:89300341 [GRCh38] Chr15:89843572 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.488C>A (p.Thr163Asn) |
single nucleotide variant |
Fanconi anemia [RCV000795911] |
Chr15:89261863 [GRCh38] Chr15:89805094 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3677C>T (p.Thr1226Met) |
single nucleotide variant |
Fanconi anemia [RCV000802051] |
Chr15:89312929 [GRCh38] Chr15:89856160 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.1891-3C>T |
single nucleotide variant |
Fanconi anemia [RCV000822522] |
Chr15:89291610 [GRCh38] Chr15:89834841 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3918T>G (p.Asn1306Lys) |
single nucleotide variant |
Fanconi anemia [RCV000813245] |
Chr15:89315383 [GRCh38] Chr15:89858614 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=) |
single nucleotide variant |
not provided [RCV000861717] |
Chr15:89281809 [GRCh38] Chr15:89825040 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.258G>A (p.Ala86=) |
single nucleotide variant |
not provided [RCV000861785] |
Chr15:89260813 [GRCh38] Chr15:89804044 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3604G>C (p.Gly1202Arg) |
single nucleotide variant |
Fanconi anemia [RCV000795048]|Fanconi anemia, complementation group I [RCV001194985] |
Chr15:89307625 [GRCh38] Chr15:89850856 [GRCh37] Chr15:15q26.1 |
pathogenic|uncertain significance |
NM_001113378.2(FANCI):c.948A>T (p.Val316=) |
single nucleotide variant |
not provided [RCV000918661] |
Chr15:89273442 [GRCh38] Chr15:89816673 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=) |
single nucleotide variant |
not provided [RCV000976928] |
Chr15:89305388 [GRCh38] Chr15:89848619 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.1(FANCI):c.3908A>G (p.Glu1303Gly) |
single nucleotide variant |
Fanconi anemia [RCV000814254] |
Chr15:89315373 [GRCh38] Chr15:89858604 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val) |
single nucleotide variant |
Fanconi anemia [RCV000823708]|Fanconi anemia, complementation group I [RCV001121115] |
Chr15:89306114 [GRCh38] Chr15:89849345 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2684C>T (p.Ser895Leu) |
single nucleotide variant |
Fanconi anemia [RCV000809747] |
Chr15:89299847 [GRCh38] Chr15:89843078 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.1(FANCI):c.2188T>C (p.Ser730Pro) |
single nucleotide variant |
Fanconi anemia [RCV000814499] |
Chr15:89292960 [GRCh38] Chr15:89836191 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.-56T>C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001120810] |
Chr15:89243997 [GRCh38] Chr15:89787228 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) |
deletion |
Fanconi anemia, complementation group A [RCV000989376] |
Chr15:89305174 [GRCh38] Chr15:89848405 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194984] |
Chr15:89306178 [GRCh38] Chr15:89849409 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194991] |
Chr15:89268509 [GRCh38] Chr15:89811740 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) |
single nucleotide variant |
Neoplasm of stomach [RCV001194996] |
Chr15:89285201 [GRCh38] Chr15:89828432 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117438] |
Chr15:89290240 [GRCh38] Chr15:89833471 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001119039] |
Chr15:89292749 [GRCh38] Chr15:89835980 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1185A>C (p.Pro395=) |
single nucleotide variant |
not provided [RCV000869572] |
Chr15:89276783 [GRCh38] Chr15:89820014 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.2636+11C>G |
single nucleotide variant |
Fanconi anemia, complementation group A [RCV000989375] |
Chr15:89295105 [GRCh38] Chr15:89838336 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3652-70_3652-69del |
deletion |
Fanconi anemia, complementation group A [RCV000989377] |
Chr15:89312817..89312818 [GRCh38] Chr15:89856048..89856049 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del) |
deletion |
Fanconi anemia, complementation group I [RCV001194989] |
Chr15:89316397..89317131 [GRCh38] Chr15:89859628..89860362 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.756-25_756-19del |
deletion |
Fanconi anemia, complementation group I [RCV001194990] |
Chr15:89268372..89268378 [GRCh38] Chr15:89811603..89811609 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3006+3A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001195000] |
Chr15:89301445 [GRCh38] Chr15:89844676 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr) |
single nucleotide variant |
Fanconi anemia [RCV001213942] |
Chr15:89283195 [GRCh38] Chr15:89826426 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=) |
single nucleotide variant |
Fanconi anemia [RCV001203034] |
Chr15:89276711 [GRCh38] Chr15:89819942 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile) |
single nucleotide variant |
Fanconi anemia [RCV001226328] |
Chr15:89306172 [GRCh38] Chr15:89849403 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val) |
single nucleotide variant |
Fanconi anemia [RCV001231391] |
Chr15:89293907 [GRCh38] Chr15:89837138 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) |
single nucleotide variant |
Fanconi anemia [RCV001220139] |
Chr15:89307658 [GRCh38] Chr15:89850889 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala) |
single nucleotide variant |
Fanconi anemia [RCV001216260] |
Chr15:89306138 [GRCh38] Chr15:89849369 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu) |
single nucleotide variant |
Fanconi anemia [RCV001239476] |
Chr15:89306039 [GRCh38] Chr15:89849270 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr) |
single nucleotide variant |
Fanconi anemia [RCV001239202] |
Chr15:89305117 [GRCh38] Chr15:89848348 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) |
single nucleotide variant |
Fanconi anemia [RCV001205405] |
Chr15:89268454 [GRCh38] Chr15:89811685 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn) |
single nucleotide variant |
Fanconi anemia [RCV001237512] |
Chr15:89305222 [GRCh38] Chr15:89848453 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile) |
single nucleotide variant |
Fanconi anemia [RCV001237516] |
Chr15:89281205 [GRCh38] Chr15:89824436 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val) |
single nucleotide variant |
Fanconi anemia [RCV001227020] |
Chr15:89247669 [GRCh38] Chr15:89790900 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) |
single nucleotide variant |
Fanconi anemia [RCV001214638] |
Chr15:89315361 [GRCh38] Chr15:89858592 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) |
single nucleotide variant |
Fanconi anemia [RCV001043156] |
Chr15:89247660 [GRCh38] Chr15:89790891 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg) |
single nucleotide variant |
Fanconi anemia [RCV001224026] |
Chr15:89268482 [GRCh38] Chr15:89811713 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser) |
single nucleotide variant |
Fanconi anemia [RCV001224290] |
Chr15:89305120 [GRCh38] Chr15:89848351 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) |
single nucleotide variant |
Fanconi anemia [RCV001235717] |
Chr15:89306178 [GRCh38] Chr15:89849409 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala) |
single nucleotide variant |
Fanconi anemia [RCV001225559] |
Chr15:89293939 [GRCh38] Chr15:89837170 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro) |
single nucleotide variant |
Fanconi anemia [RCV001201810] |
Chr15:89261658 [GRCh38] Chr15:89804889 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3255+1G>C |
single nucleotide variant |
Fanconi anemia [RCV001232704] |
Chr15:89305410 [GRCh38] Chr15:89848641 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs) |
insertion |
Progressive sclerosing poliodystrophy [RCV001215530] |
Chr15:89316769..89316770 [GRCh38] Chr15:89860000..89860001 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3592-12C>T |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001121119] |
Chr15:89307601 [GRCh38] Chr15:89850832 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117532] |
Chr15:89300374 [GRCh38] Chr15:89843605 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3925-80G>A |
single nucleotide variant |
POLG-Related Spectrum Disorders [RCV001117651] |
Chr15:89316317 [GRCh38] Chr15:89859548 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.883-4C>G |
single nucleotide variant |
Fanconi anemia [RCV001246059] |
Chr15:89273373 [GRCh38] Chr15:89816604 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001116209] |
Chr15:89312970 [GRCh38] Chr15:89856201 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=) |
single nucleotide variant |
not provided [RCV001093437] |
Chr15:89291678 [GRCh38] Chr15:89834909 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3255+9T>A |
single nucleotide variant |
not provided [RCV000951534] |
Chr15:89305418 [GRCh38] Chr15:89848649 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.228G>A (p.Val76=) |
single nucleotide variant |
not provided [RCV000963682] |
Chr15:89260783 [GRCh38] Chr15:89804014 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.*376_*379dup |
duplication |
Progressive sclerosing poliodystrophy [RCV000862750] |
Chr15:89316832..89316833 [GRCh38] Chr15:89860063..89860064 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.446-4C>A |
single nucleotide variant |
not provided [RCV000925826] |
Chr15:89261817 [GRCh38] Chr15:89805048 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3059-4C>T |
single nucleotide variant |
Fanconi anemia [RCV000870462] |
Chr15:89305111 [GRCh38] Chr15:89848342 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.819A>T (p.Leu273=) |
single nucleotide variant |
Fanconi anemia [RCV000919982] |
Chr15:89268462 [GRCh38] Chr15:89811693 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) |
single nucleotide variant |
Fanconi anemia [RCV000861177]|Fanconi anemia, complementation group I [RCV001115983] |
Chr15:89285146 [GRCh38] Chr15:89828377 [GRCh37] Chr15:15q26.1 |
benign|likely benign|uncertain significance |
NM_001113378.2(FANCI):c.3243C>G (p.Ala1081=) |
single nucleotide variant |
not provided [RCV000929934] |
Chr15:89305397 [GRCh38] Chr15:89848628 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.595T>C (p.Leu199=) |
single nucleotide variant |
Fanconi anemia [RCV000871905] |
Chr15:89263952 [GRCh38] Chr15:89807183 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.2577G>C (p.Val859=) |
single nucleotide variant |
not provided [RCV000876989] |
Chr15:89295035 [GRCh38] Chr15:89838266 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) |
single nucleotide variant |
Fanconi anemia [RCV000872551] |
Chr15:89264557 [GRCh38] Chr15:89807788 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=) |
single nucleotide variant |
Fanconi anemia [RCV000918626] |
Chr15:89281267 [GRCh38] Chr15:89824498 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=) |
single nucleotide variant |
Fanconi anemia [RCV001226221] |
Chr15:89305227 [GRCh38] Chr15:89848458 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) |
single nucleotide variant |
Fanconi anemia [RCV001244711] |
Chr15:89299850 [GRCh38] Chr15:89843081 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2457-2A>G |
single nucleotide variant |
not provided [RCV001200104] |
Chr15:89294913 [GRCh38] Chr15:89838144 [GRCh37] Chr15:15q26.1 |
likely pathogenic |
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr) |
single nucleotide variant |
Fanconi anemia [RCV001207937] |
Chr15:89299856 [GRCh38] Chr15:89843087 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu) |
indel |
Fanconi anemia [RCV001243021] |
Chr15:89283191 [GRCh38] Chr15:89826422 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001115982] |
Chr15:89285115 [GRCh38] Chr15:89828346 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001116091] |
Chr15:89299848 [GRCh38] Chr15:89843079 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001116210] |
Chr15:89314645 [GRCh38] Chr15:89857876 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly) |
single nucleotide variant |
Fanconi anemia [RCV001220563] |
Chr15:89281796 [GRCh38] Chr15:89825027 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn) |
single nucleotide variant |
Fanconi anemia [RCV001224766] |
Chr15:89264598 [GRCh38] Chr15:89807829 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2636+3A>G |
single nucleotide variant |
Fanconi anemia [RCV001211775] |
Chr15:89295097 [GRCh38] Chr15:89838328 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln) |
single nucleotide variant |
Fanconi anemia [RCV001045910] |
Chr15:89295060 [GRCh38] Chr15:89838291 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1890+10A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117439] |
Chr15:89290291 [GRCh38] Chr15:89833522 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117650] |
Chr15:89315372 [GRCh38] Chr15:89858603 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001121117] |
Chr15:89306194 [GRCh38] Chr15:89849425 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV001235222] |
Chr15:89316783 [GRCh38] Chr15:89860014 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu) |
single nucleotide variant |
Fanconi anemia [RCV001218164] |
Chr15:89276784 [GRCh38] Chr15:89820015 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=) |
single nucleotide variant |
Fanconi anemia [RCV000933868] |
Chr15:89292799 [GRCh38] Chr15:89836030 [GRCh37] Chr15:15q26.1 |
likely benign |
NM_001113378.2(FANCI):c.*329T>C |
single nucleotide variant |
not provided [RCV000992690] |
Chr15:89316788 [GRCh38] Chr15:89860019 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 |
copy number loss |
not provided [RCV001006718] |
Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) |
single nucleotide variant |
Fanconi anemia [RCV001048638] |
Chr15:89278698 [GRCh38] Chr15:89821929 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q26.1(chr15:89669751-89899031)x3 |
copy number gain |
not provided [RCV001006719] |
Chr15:89669751..89899031 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.*662C>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117759] |
Chr15:89317121 [GRCh38] Chr15:89860352 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001121118] |
Chr15:89307527 [GRCh38] Chr15:89850758 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_002693.3(POLG):c.*100G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001119232]|POLG-Related Spectrum Disorders [RCV001119233] |
Chr15:89316651 [GRCh38] Chr15:89859882 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194980] |
Chr15:89247649 [GRCh38] Chr15:89790880 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) |
deletion |
Fanconi anemia, complementation group I [RCV001194986] |
Chr15:89307643..89307644 [GRCh38] Chr15:89850874..89850875 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) |
duplication |
Fanconi anemia, complementation group I [RCV001194988] |
Chr15:89315364..89315365 [GRCh38] Chr15:89858595..89858596 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3058+1G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001195001] |
Chr15:89303916 [GRCh38] Chr15:89847147 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194993] |
Chr15:89276862 [GRCh38] Chr15:89820093 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.876_879del (p.His292fs) |
deletion |
Fanconi anemia [RCV001035379] |
Chr15:89268518..89268521 [GRCh38] Chr15:89811749..89811752 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs) |
deletion |
Fanconi anemia [RCV001049832] |
Chr15:89283217..89283233 [GRCh38] Chr15:89826448..89826464 [GRCh37] Chr15:15q26.1 |
pathogenic |
NC_000015.10:g.(?_89316731)_(89316847_?)del |
deletion |
Progressive sclerosing poliodystrophy [RCV001031829] |
Chr15:89859962..89860078 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) |
single nucleotide variant |
Fanconi anemia [RCV001218676] |
Chr15:89300375 [GRCh38] Chr15:89843606 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) |
single nucleotide variant |
Fanconi anemia [RCV001204923] |
Chr15:89293869 [GRCh38] Chr15:89837100 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile) |
single nucleotide variant |
Fanconi anemia [RCV001035958] |
Chr15:89293882 [GRCh38] Chr15:89837113 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.933_935TCT[2] (p.Leu314del) |
microsatellite |
Fanconi anemia [RCV001060864] |
Chr15:89273427..89273429 [GRCh38] Chr15:89816658..89816660 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.-10A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001120811] |
Chr15:89247638 [GRCh38] Chr15:89790869 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2292-11G>C |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001121007] |
Chr15:89293822 [GRCh38] Chr15:89837053 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro) |
single nucleotide variant |
Fanconi anemia [RCV001234953] |
Chr15:89285100 [GRCh38] Chr15:89828331 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His) |
single nucleotide variant |
Fanconi anemia [RCV001061571] |
Chr15:89281279 [GRCh38] Chr15:89824510 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) |
deletion |
Fanconi anemia [RCV001205465] |
Chr15:89295026..89295027 [GRCh38] Chr15:89838257..89838258 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg) |
single nucleotide variant |
Fanconi anemia [RCV001216607] |
Chr15:89307500 [GRCh38] Chr15:89850731 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe) |
single nucleotide variant |
Fanconi anemia [RCV001236998] |
Chr15:89264006 [GRCh38] Chr15:89807237 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001119129] |
Chr15:89305626 [GRCh38] Chr15:89848857 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194999] |
Chr15:89295030 [GRCh38] Chr15:89838261 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) |
deletion |
Fanconi anemia, complementation group I [RCV001194982] |
Chr15:89306093..89306111 [GRCh38] Chr15:89849324..89849342 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro) |
single nucleotide variant |
Fanconi anemia [RCV001058102] |
Chr15:89281260 [GRCh38] Chr15:89824491 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn) |
single nucleotide variant |
Fanconi anemia [RCV001202317] |
Chr15:89316456 [GRCh38] Chr15:89859687 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) |
single nucleotide variant |
Fanconi anemia [RCV001040081] |
Chr15:89268443 [GRCh38] Chr15:89811674 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) |
single nucleotide variant |
Fanconi anemia [RCV001217968] |
Chr15:89315363 [GRCh38] Chr15:89858594 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg) |
single nucleotide variant |
Fanconi anemia [RCV001218035] |
Chr15:89305228 [GRCh38] Chr15:89848459 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp) |
single nucleotide variant |
Fanconi anemia [RCV001206910] |
Chr15:89295030 [GRCh38] Chr15:89838261 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser) |
single nucleotide variant |
Fanconi anemia [RCV001052009] |
Chr15:89273405 [GRCh38] Chr15:89816636 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) |
single nucleotide variant |
Fanconi anemia [RCV001218391] |
Chr15:89263928 [GRCh38] Chr15:89807159 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser) |
single nucleotide variant |
Fanconi anemia [RCV001040941] |
Chr15:89292791 [GRCh38] Chr15:89836022 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) |
single nucleotide variant |
Fanconi anemia [RCV001208200] |
Chr15:89293038 [GRCh38] Chr15:89836269 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.157+78G>A |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194981] |
Chr15:89258854 [GRCh38] Chr15:89802085 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194987] |
Chr15:89315360 [GRCh38] Chr15:89858591 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.1583+142C>T |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194994] |
Chr15:89281977 [GRCh38] Chr15:89825208 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) |
single nucleotide variant |
not provided [RCV001194995] |
Chr15:89283149 [GRCh38] Chr15:89826380 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194997] |
Chr15:89290231 [GRCh38] Chr15:89833462 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001194998] |
Chr15:89293020 [GRCh38] Chr15:89836251 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3058+4A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001195002] |
Chr15:89303919 [GRCh38] Chr15:89847150 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.3350-88A>G |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001195003] |
Chr15:89305919 [GRCh38] Chr15:89849150 [GRCh37] Chr15:15q26.1 |
pathogenic |
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp) |
deletion |
Fanconi anemia [RCV001228924] |
Chr15:89300316..89300348 [GRCh38] Chr15:89843547..89843579 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001121121] |
Chr15:89307672 [GRCh38] Chr15:89850903 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg) |
single nucleotide variant |
Fanconi anemia [RCV001051225] |
Chr15:89292752 [GRCh38] Chr15:89835983 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001118939] |
Chr15:89274209 [GRCh38] Chr15:89817440 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg) |
single nucleotide variant |
Fanconi anemia [RCV001041631] |
Chr15:89263980 [GRCh38] Chr15:89807211 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr) |
single nucleotide variant |
Fanconi anemia, complementation group I [RCV001117328] |
Chr15:89264553 [GRCh38] Chr15:89807784 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val) |
single nucleotide variant |
Fanconi anemia [RCV001052792] |
Chr15:89293931 [GRCh38] Chr15:89837162 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys) |
single nucleotide variant |
Fanconi anemia [RCV001203284] |
Chr15:89281277 [GRCh38] Chr15:89824508 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly) |
single nucleotide variant |
Fanconi anemia [RCV001048482] |
Chr15:89292972 [GRCh38] Chr15:89836203 [GRCh37] Chr15:15q26.1 |
uncertain significance |
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) |
single nucleotide variant |
Microcephaly [RCV001252858] |
Chr15:89261696 [GRCh38] Chr15:89804927 [GRCh37] Chr15:15q26.1 |
uncertain significance |
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 |
copy number loss |
See cases [RCV001263026] |
Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |