| NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV000869866] |
Chr14:24239856 [GRCh38]
Chr14:24709062 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV000552311] |
Chr14:24239900 [GRCh38]
Chr14:24709106 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.826del (p.Arg276fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 3 [RCV000030737] |
Chr14:24240654 [GRCh38]
Chr14:24709860 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV000862737]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032163]|Dyskeratosis congenita, autosomal dominant 3 [RCV000303934]|Revesz syndrome [RCV000399248]|TINF2-related disorder [RCV003914887]|not specified [RCV000347889] |
Chr14:24240774 [GRCh38]
Chr14:24709980 [GRCh37]
Chr14:14q12 |
pathogenic|benign|likely benign|not provided |
| NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV000545340]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032164]|Dyskeratosis congenita, autosomal dominant 3 [RCV000394153]|Malignant tumor of breast [RCV001269497]|Revesz syndrome [RCV000350321]|Revesz syndrome [RCV002496488]|not provided [RCV004703189]|not specified [RCV001731323] |
Chr14:24240746 [GRCh38]
Chr14:24709952 [GRCh37]
Chr14:14q12 |
pathogenic|benign|likely benign|not provided |
| NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032166] |
Chr14:24240642 [GRCh38]
Chr14:24709848 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) |
single nucleotide variant |
Autosomal recessive congenital ichthyosis 1 [RCV000989196]|Dyskeratosis congenita [RCV000868533]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032167]|Dyskeratosis congenita, autosomal dominant 3 [RCV000319654]|Revesz syndrome [RCV000372254]|not specified [RCV001818201] |
Chr14:24240639 [GRCh38]
Chr14:24709845 [GRCh37]
Chr14:14q12 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032170] |
Chr14:24240633 [GRCh38]
Chr14:24709839 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032171]|TINF2-related disorder [RCV003407386]|not provided [RCV000428138] |
Chr14:24240633 [GRCh38]
Chr14:24709839 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|not provided |
| NM_001099274.3(TINF2):c.848C>A (p.Pro283His) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032172] |
Chr14:24240632 [GRCh38]
Chr14:24709838 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.849dup (p.Thr284fs) |
duplication |
Dyskeratosis congenita [RCV002514128]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032173] |
Chr14:24240630..24240631 [GRCh38]
Chr14:24709836..24709837 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002513292]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032174] |
Chr14:24240630 [GRCh38]
Chr14:24709836 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|not provided |
| NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV001852639]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032175]|not provided [RCV001818202] |
Chr14:24240620 [GRCh38]
Chr14:24709826 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|not provided |
| NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu) |
single nucleotide variant |
Aplastic anemia [RCV000032176] |
Chr14:24240618 [GRCh38]
Chr14:24709824 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) |
indel |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032177] |
Chr14:24240614..24240615 [GRCh38]
Chr14:24709820..24709821 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032178] |
Chr14:24240609 [GRCh38]
Chr14:24709815 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.892del (p.Gln298fs) |
deletion |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032179] |
Chr14:24240588 [GRCh38]
Chr14:24709794 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000024248] |
Chr14:24240675 [GRCh38]
Chr14:24709881 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.839del (p.Lys280fs) |
deletion |
Revesz syndrome [RCV000024249] |
Chr14:24240641 [GRCh38]
Chr14:24709847 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000024250] |
Chr14:24240669 [GRCh38]
Chr14:24709875 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 1 [RCV000032165]|Dyskeratosis congenita, autosomal dominant 3 [RCV000005977]|not provided [RCV003441705] |
Chr14:24240642 [GRCh38]
Chr14:24709848 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.845G>A (p.Arg282His) |
single nucleotide variant |
Dyskeratosis congenita [RCV001382425]|Dyskeratosis congenita, autosomal dominant 3 [RCV000005978]|Revesz syndrome [RCV000005979]|Revesz syndrome [RCV002490324]|not provided [RCV001509450] |
Chr14:24240635 [GRCh38]
Chr14:24709841 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV001382426]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032168]|Dyskeratosis congenita, autosomal dominant 3 [RCV000005980] |
Chr14:24240636 [GRCh38]
Chr14:24709842 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV001054196]|Dyskeratosis congenita, autosomal dominant 1 [RCV000032169]|Dyskeratosis congenita, autosomal dominant 3 [RCV000005981]|not provided [RCV000434257] |
Chr14:24240636 [GRCh38]
Chr14:24709842 [GRCh37]
Chr14:14q12 |
pathogenic|not provided |
| GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] |
Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12 |
pathogenic |
| GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 |
copy number loss |
See cases [RCV000051485] |
Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 |
copy number loss |
See cases [RCV000051490] |
Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 |
copy number gain |
See cases [RCV000053803] |
Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] |
Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1 |
pathogenic |
| NM_001002000.2(GMPR2):c.840G>A (p.Gly280=) |
single nucleotide variant |
Malignant melanoma [RCV000070511] |
Chr14:24238388 [GRCh38]
Chr14:24707594 [GRCh37]
Chr14:23777434 [NCBI36]
Chr14:14q12 |
not provided |
| NM_001099274.3(TINF2):c.1084G>C (p.Asp362His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002541814]|Revesz syndrome [RCV001292664] |
Chr14:24240308 [GRCh38]
Chr14:24709514 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.199G>A (p.Val67Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV001348855] |
Chr14:24241988 [GRCh38]
Chr14:24711194 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 |
copy number gain |
See cases [RCV000137725] |
Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12 |
likely pathogenic |
| GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 |
copy number loss |
See cases [RCV000142873] |
Chr14:23984065..25374494 [GRCh38]
Chr14:24453274..25843700 [GRCh37]
Chr14:23523114..24913540 [NCBI36]
Chr14:14q11.2-12 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 |
copy number gain |
See cases [RCV000143186] |
Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 |
copy number gain |
See cases [RCV000143748] |
Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3 |
pathogenic |
| NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) |
single nucleotide variant |
Dyskeratosis congenita [RCV000634505]|Hoyeraal-Hreidarsson syndrome [RCV001824719]|Revesz syndrome [RCV002487176]|not provided [RCV000400895] |
Chr14:24240544 [GRCh38]
Chr14:24709750 [GRCh37]
Chr14:14q12 |
pathogenic|uncertain significance|not provided |
| GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) |
copy number gain |
not provided [RCV000767822] |
Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12 |
pathogenic |
| NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000228456]|Dyskeratosis congenita, autosomal dominant 3 [RCV000364876]|Revesz syndrome [RCV000272534]|Revesz syndrome [RCV002487054]|TINF2-related disorder [RCV003977649]|not provided [RCV001567869] |
Chr14:24239917 [GRCh38]
Chr14:24709123 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 |
copy number gain |
See cases [RCV000240285] |
Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12 |
pathogenic |
| NM_001099274.3(TINF2):c.-161G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000401061]|Revesz syndrome [RCV000300736] |
Chr14:24242493 [GRCh38]
Chr14:24711699 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.507+5C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002522301]|Dyskeratosis congenita, autosomal dominant 3 [RCV000356203]|Revesz syndrome [RCV000303864] |
Chr14:24241199 [GRCh38]
Chr14:24710405 [GRCh37]
Chr14:14q12 |
benign|uncertain significance |
| NM_001099274.3(TINF2):c.-260G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000272746]|Revesz syndrome [RCV000383529]|not provided [RCV001546421] |
Chr14:24242592 [GRCh38]
Chr14:24711798 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.-225G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000331284]|Revesz syndrome [RCV000273410]|not provided [RCV004714805] |
Chr14:24242557 [GRCh38]
Chr14:24711763 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV000474104]|Dyskeratosis congenita, autosomal dominant 3 [RCV000276665]|Revesz syndrome [RCV000373446]|Revesz syndrome [RCV002494981]|not provided [RCV004714804] |
Chr14:24241715 [GRCh38]
Chr14:24710921 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV000557888]|Dyskeratosis congenita, autosomal dominant 3 [RCV000334099]|Revesz syndrome [RCV000386033]|TINF2-related disorder [RCV003972334]|not provided [RCV001557228]|not specified [RCV001528340] |
Chr14:24242259 [GRCh38]
Chr14:24711465 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) |
single nucleotide variant |
Dyskeratosis Congenita, Dominant [RCV000293081]|Dyskeratosis congenita [RCV001859877]|Revesz syndrome [RCV000389585]|not provided [RCV004693164] |
Chr14:24240713 [GRCh38]
Chr14:24709919 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV001042861]|Dyskeratosis congenita, autosomal dominant 3 [RCV000346506]|Revesz syndrome [RCV000293979]|not provided [RCV003235188] |
Chr14:24242271 [GRCh38]
Chr14:24711477 [GRCh37]
Chr14:14q12 |
benign|uncertain significance |
| NM_001099274.3(TINF2):c.-172A>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000260494]|Revesz syndrome [RCV000353293] |
Chr14:24242504 [GRCh38]
Chr14:24711710 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.771C>T (p.His257=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000472653]|Dyskeratosis congenita, autosomal dominant 3 [RCV000280071]|Revesz syndrome [RCV000351319]|TINF2-related disorder [RCV003920308]|not specified [RCV001820924] |
Chr14:24240709 [GRCh38]
Chr14:24709915 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000466023]|Dyskeratosis congenita, autosomal dominant 3 [RCV000320995]|Revesz syndrome [RCV000266723]|TINF2-related disorder [RCV003910171]|not provided [RCV001574043]|not specified [RCV000504205] |
Chr14:24240300 [GRCh38]
Chr14:24709506 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.400-5del |
deletion |
Dyskeratosis Congenita, Dominant [RCV000263846]|Dyskeratosis congenita [RCV002520896]|Revesz syndrome [RCV000316536] |
Chr14:24241316 [GRCh38]
Chr14:24710522 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000377989]|Revesz syndrome [RCV000281017] |
Chr14:24240318 [GRCh38]
Chr14:24709524 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.-91C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000345608]|Revesz syndrome [RCV000397490]|not provided [RCV001546495] |
Chr14:24242423 [GRCh38]
Chr14:24711629 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000474732]|Dyskeratosis congenita, autosomal dominant 3 [RCV000325210]|Revesz syndrome [RCV000363669]|not provided [RCV001540010]|not specified [RCV000507791] |
Chr14:24240145 [GRCh38]
Chr14:24709351 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.-266G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000382167]|Revesz syndrome [RCV000325422]|not provided [RCV001560030] |
Chr14:24242598 [GRCh38]
Chr14:24711804 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV000456519]|Dyskeratosis congenita, autosomal dominant 3 [RCV000310733]|Revesz syndrome [RCV000344620]|not provided [RCV001711928]|not specified [RCV000505877] |
Chr14:24240770 [GRCh38]
Chr14:24709976 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.682C>T (p.His228Tyr) |
single nucleotide variant |
Dyskeratosis Congenita, Dominant [RCV000265041]|Revesz syndrome [RCV000360985] |
Chr14:24240798 [GRCh38]
Chr14:24710004 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000868173]|Dyskeratosis congenita, autosomal dominant 3 [RCV000401729]|Revesz syndrome [RCV000312516]|not provided [RCV004705288] |
Chr14:24239863 [GRCh38]
Chr14:24709069 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.*91T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000334776]|Revesz syndrome [RCV000395621] |
Chr14:24239706 [GRCh38]
Chr14:24708912 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.-93T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000340400]|Revesz syndrome [RCV000305915] |
Chr14:24242425 [GRCh38]
Chr14:24711631 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_012461.3(TINF2):c.-316G>A |
single nucleotide variant |
Dyskeratosis Congenita, Dominant [RCV000376451]|Revesz syndrome [RCV000284607] |
Chr14:24242648 [GRCh38]
Chr14:24711854 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.-277C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000285428]|Revesz syndrome [RCV000324149] |
Chr14:24242609 [GRCh38]
Chr14:24711815 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.-50A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000288264]|Revesz syndrome [RCV000384743] |
Chr14:24242382 [GRCh38]
Chr14:24711588 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.-223C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000370277]|Revesz syndrome [RCV000313306] |
Chr14:24242555 [GRCh38]
Chr14:24711761 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.*53G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV000313263]|Revesz syndrome [RCV000370783] |
Chr14:24239744 [GRCh38]
Chr14:24708950 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV000529798] |
Chr14:24240563 [GRCh38]
Chr14:24709769 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.45C>T (p.Ala15=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001461607] |
Chr14:24242288 [GRCh38]
Chr14:24711494 [GRCh37]
Chr14:14q12 |
likely benign |
| GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 |
copy number gain |
See cases [RCV000447658] |
Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 |
copy number gain |
See cases [RCV000448273] |
Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1 |
pathogenic |
| NM_001099274.3(TINF2):c.796C>T (p.Arg266Ter) |
single nucleotide variant |
not provided [RCV000481021] |
Chr14:24240684 [GRCh38]
Chr14:24709890 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_001099274.3(TINF2):c.1227del (p.Leu410fs) |
deletion |
not provided [RCV000483498] |
Chr14:24239926 [GRCh38]
Chr14:24709132 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) |
single nucleotide variant |
Dyskeratosis congenita [RCV002525744]|Revesz syndrome [RCV000477835]|not provided [RCV000578829] |
Chr14:24242252 [GRCh38]
Chr14:24711458 [GRCh37]
Chr14:14q12 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001099274.3(TINF2):c.400-9C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV000464238]|not specified [RCV000501157] |
Chr14:24241320 [GRCh38]
Chr14:24710526 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV000460795]|TINF2-related disorder [RCV003972773]|not provided [RCV001672786]|not specified [RCV001821321] |
Chr14:24240759 [GRCh38]
Chr14:24709965 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV000465078]|TINF2-related disorder [RCV003970312]|not provided [RCV004721382]|not specified [RCV001821320] |
Chr14:24240119 [GRCh38]
Chr14:24709325 [GRCh37]
Chr14:14q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001099274.3(TINF2):c.520C>T (p.Leu174=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000458289] |
Chr14:24241104 [GRCh38]
Chr14:24710310 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.631C>G (p.Leu211Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001209663]|not specified [RCV000499416] |
Chr14:24240849 [GRCh38]
Chr14:24710055 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 |
copy number loss |
See cases [RCV000510673] |
Chr14:24233721..31377083 [GRCh37]
Chr14:14q11.2-12 |
pathogenic |
| NM_001099274.3(TINF2):c.1123_1129+1del |
deletion |
Dyskeratosis congenita [RCV003530057]|not specified [RCV000500863] |
Chr14:24240262..24240269 [GRCh38]
Chr14:24709468..24709475 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.896T>G (p.Val299Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV002272266]|not specified [RCV000503147] |
Chr14:24240584 [GRCh38]
Chr14:24709790 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV000698212] |
Chr14:24240464 [GRCh38]
Chr14:24709670 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV000634493]|not provided [RCV003148812] |
Chr14:24241772 [GRCh38]
Chr14:24710978 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV000634496] |
Chr14:24240455 [GRCh38]
Chr14:24709661 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.865C>T (p.Pro289Ser) |
single nucleotide variant |
not provided [RCV000513272] |
Chr14:24240615 [GRCh38]
Chr14:24709821 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV000634480]|TINF2-related disorder [RCV004731000] |
Chr14:24239816 [GRCh38]
Chr14:24709022 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV000634481] |
Chr14:24240737 [GRCh38]
Chr14:24709943 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.159C>T (p.His53=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000634520] |
Chr14:24242174 [GRCh38]
Chr14:24711380 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) |
duplication |
Dyskeratosis congenita [RCV000698064]|not provided [RCV003140107] |
Chr14:24240301..24240302 [GRCh38]
Chr14:24709507..24709508 [GRCh37]
Chr14:14q12 |
pathogenic|uncertain significance |
| NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV000691142] |
Chr14:24241969 [GRCh38]
Chr14:24711175 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV000692655] |
Chr14:24240570 [GRCh38]
Chr14:24709776 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV000693709]|Revesz syndrome [RCV002493187]|not provided [RCV002261182] |
Chr14:24241308 [GRCh38]
Chr14:24710514 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1010del (p.Gly337fs) |
deletion |
Dyskeratosis congenita [RCV000703176]|Dyskeratosis congenita, autosomal dominant 3 [RCV004594096] |
Chr14:24240470 [GRCh38]
Chr14:24709676 [GRCh37]
Chr14:14q12 |
pathogenic|uncertain significance |
| NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV000699668] |
Chr14:24242206 [GRCh38]
Chr14:24711412 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q12(chr14:24711140-24735735)x1 |
copy number loss |
not provided [RCV000738418] |
Chr14:24711140..24735735 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.297+45G>A |
single nucleotide variant |
not provided [RCV001585139] |
Chr14:24241845 [GRCh38]
Chr14:24711051 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.315G>A (p.Arg105=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000863393]|Revesz syndrome [RCV003224481] |
Chr14:24241759 [GRCh38]
Chr14:24710965 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1003C>T (p.Leu335=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000864078]|not specified [RCV001816960] |
Chr14:24240477 [GRCh38]
Chr14:24709683 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.960A>C (p.Thr320=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003645877] |
Chr14:24240520 [GRCh38]
Chr14:24709726 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.51G>C (p.Ala17=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001429518]|not provided [RCV000864660] |
Chr14:24242282 [GRCh38]
Chr14:24711488 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV001039104] |
Chr14:24239841 [GRCh38]
Chr14:24709047 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1221+3G>C |
single nucleotide variant |
Dyskeratosis congenita [RCV001051744] |
Chr14:24240061 [GRCh38]
Chr14:24709267 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.929C>T (p.Ala310Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001059482] |
Chr14:24240551 [GRCh38]
Chr14:24709757 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001068877] |
Chr14:24239865 [GRCh38]
Chr14:24709071 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.517G>A (p.Val173Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV001070423]|Dyskeratosis congenita, autosomal dominant 3 [RCV001113649]|Revesz syndrome [RCV001113648] |
Chr14:24241107 [GRCh38]
Chr14:24710313 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1292del (p.Pro431fs) |
deletion |
Dyskeratosis congenita [RCV000800533]|Dyskeratosis congenita, autosomal dominant 3 [RCV001293677] |
Chr14:24239861 [GRCh38]
Chr14:24709067 [GRCh37]
Chr14:14q12 |
likely pathogenic|uncertain significance |
| NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV000822672] |
Chr14:24239865 [GRCh38]
Chr14:24709071 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV000819119] |
Chr14:24240762 [GRCh38]
Chr14:24709968 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000869580] |
Chr14:24240451 [GRCh38]
Chr14:24709657 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV000811826]|Revesz syndrome [RCV002487770] |
Chr14:24240450 [GRCh38]
Chr14:24709656 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV000795300]|TINF2-related disorder [RCV003892709] |
Chr14:24242305 [GRCh38]
Chr14:24711511 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV000802185]|not provided [RCV004693295] |
Chr14:24240840 [GRCh38]
Chr14:24710046 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV000795553] |
Chr14:24241055 [GRCh38]
Chr14:24710261 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.462C>T (p.Tyr154=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000871628] |
Chr14:24241249 [GRCh38]
Chr14:24710455 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV000819774]|Dyskeratosis congenita, autosomal dominant 3 [RCV001109556]|Revesz syndrome [RCV001109555] |
Chr14:24239846 [GRCh38]
Chr14:24709052 [GRCh37]
Chr14:14q12 |
benign|likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV000810268] |
Chr14:24239931 [GRCh38]
Chr14:24709137 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV000808620]|not specified [RCV001816877] |
Chr14:24240129 [GRCh38]
Chr14:24709335 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.684C>A (p.His228Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV000808930] |
Chr14:24240796 [GRCh38]
Chr14:24710002 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.778C>G (p.Leu260Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV000811226] |
Chr14:24240702 [GRCh38]
Chr14:24709908 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV000792138] |
Chr14:24242218 [GRCh38]
Chr14:24711424 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001044023]|Revesz syndrome [RCV002479274]|not provided [RCV002272393] |
Chr14:24240146 [GRCh38]
Chr14:24709352 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV000814879] |
Chr14:24242272 [GRCh38]
Chr14:24711478 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr) |
duplication |
Dyskeratosis congenita [RCV000812488]|not provided [RCV004723227]|not specified [RCV001816885] |
Chr14:24240310..24240311 [GRCh38]
Chr14:24709516..24709517 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV000793182]|Dyskeratosis congenita, autosomal dominant 3 [RCV001788351] |
Chr14:24240558 [GRCh38]
Chr14:24709764 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.-233T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV001113747]|Revesz syndrome [RCV001113746] |
Chr14:24242565 [GRCh38]
Chr14:24711771 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.30A>G (p.Ala10=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001450600]|Dyskeratosis congenita, autosomal dominant 3 [RCV001111934]|Revesz syndrome [RCV001111935]|not specified [RCV001819823] |
Chr14:24242303 [GRCh38]
Chr14:24711509 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV001113647]|Revesz syndrome [RCV001113646] |
Chr14:24240873 [GRCh38]
Chr14:24710079 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001231126] |
Chr14:24240566 [GRCh38]
Chr14:24709772 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.400-3T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV001241293] |
Chr14:24241314 [GRCh38]
Chr14:24710520 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001221999] |
Chr14:24240773 [GRCh38]
Chr14:24709979 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.141C>T (p.Gly47=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001211224] |
Chr14:24242192 [GRCh38]
Chr14:24711398 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.167G>A (p.Arg56His) |
single nucleotide variant |
Dyskeratosis congenita [RCV001202016]|TINF2-related disorder [RCV003413987]|not provided [RCV003235493] |
Chr14:24242166 [GRCh38]
Chr14:24711372 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.416A>G (p.Tyr139Cys) |
single nucleotide variant |
not provided [RCV003234311] |
Chr14:24241295 [GRCh38]
Chr14:24710501 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NC_000014.8:g.(?_23242819)_(25103366_?)dup |
duplication |
Lysinuric protein intolerance [RCV003105428]|Specific granule deficiency [RCV003105427] |
Chr14:23242819..25103366 [GRCh37]
Chr14:14q11.2-12 |
uncertain significance |
| NM_001099274.3(TINF2):c.400-163_400-158dup |
duplication |
not provided [RCV001571485] |
Chr14:24241468..24241469 [GRCh38]
Chr14:24710674..24710675 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.605-41C>T |
single nucleotide variant |
not provided [RCV001584892] |
Chr14:24240916 [GRCh38]
Chr14:24710122 [GRCh37]
Chr14:14q12 |
likely benign |
| NC_000014.9:g.24242888G>C |
single nucleotide variant |
not provided [RCV001680510] |
Chr14:24242888 [GRCh38]
Chr14:24712094 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.411A>G (p.Gln137=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001452887] |
Chr14:24241300 [GRCh38]
Chr14:24710506 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.231C>T (p.Ala77=) |
single nucleotide variant |
not provided [RCV000932299] |
Chr14:24241956 [GRCh38]
Chr14:24711162 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.129T>C (p.Ala43=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530119] |
Chr14:24242204 [GRCh38]
Chr14:24711410 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.861G>C (p.Leu287=) |
single nucleotide variant |
Dyskeratosis congenita [RCV000863416] |
Chr14:24240619 [GRCh38]
Chr14:24709825 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.382T>C (p.Leu128=) |
single nucleotide variant |
not provided [RCV000887671] |
Chr14:24241692 [GRCh38]
Chr14:24710898 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.690C>G (p.Pro230=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001433104] |
Chr14:24240790 [GRCh38]
Chr14:24709996 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV001238839] |
Chr14:24242170 [GRCh38]
Chr14:24711376 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) |
single nucleotide variant |
Dyskeratosis congenita [RCV001212678]|Long telomere syndrome [RCV004561955]|TINF2-related disorder [RCV003405398]|not provided [RCV001780129] |
Chr14:24240687 [GRCh38]
Chr14:24709893 [GRCh37]
Chr14:14q12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001239348] |
Chr14:24239822 [GRCh38]
Chr14:24709028 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV001239411] |
Chr14:24242296 [GRCh38]
Chr14:24711502 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.*33C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV001115182]|Revesz syndrome [RCV001109554] |
Chr14:24239764 [GRCh38]
Chr14:24708970 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV001217098] |
Chr14:24240513 [GRCh38]
Chr14:24709719 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001047908] |
Chr14:24240821 [GRCh38]
Chr14:24710027 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.500C>T (p.Ala167Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001070241] |
Chr14:24241211 [GRCh38]
Chr14:24710417 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1129+48_1129+50dup |
duplication |
not provided [RCV001562737] |
Chr14:24240212..24240213 [GRCh38]
Chr14:24709418..24709419 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.146T>C (p.Val49Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002257253] |
Chr14:24242187 [GRCh38]
Chr14:24711393 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.828G>T (p.Arg276Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002259229] |
Chr14:24240652 [GRCh38]
Chr14:24709858 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.586A>G (p.Met196Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001066162] |
Chr14:24241038 [GRCh38]
Chr14:24710244 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.399+47dup |
duplication |
not provided [RCV001594757] |
Chr14:24241613..24241614 [GRCh38]
Chr14:24710819..24710820 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.399+60_399+61del |
deletion |
not provided [RCV001661234] |
Chr14:24241614..24241615 [GRCh38]
Chr14:24710820..24710821 [GRCh37]
Chr14:14q12 |
benign |
| GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 |
copy number gain |
not provided [RCV001006605] |
Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2 |
pathogenic |
| NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002558119]|Dyskeratosis congenita, autosomal dominant 3 [RCV001113645]|Revesz syndrome [RCV001112302]|not specified [RCV004702645] |
Chr14:24240858 [GRCh38]
Chr14:24710064 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.253C>G (p.His85Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002555068]|Dyskeratosis congenita, autosomal dominant 3 [RCV001109637]|Revesz syndrome [RCV001109636] |
Chr14:24241934 [GRCh38]
Chr14:24711140 [GRCh37]
Chr14:14q12 |
benign|uncertain significance |
| NM_001099274.3(TINF2):c.192+58C>T |
single nucleotide variant |
not provided [RCV001650112] |
Chr14:24242083 [GRCh38]
Chr14:24711289 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.399+47_399+54dup |
duplication |
not provided [RCV001546620] |
Chr14:24241613..24241614 [GRCh38]
Chr14:24710819..24710820 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.-130A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV001112390]|Revesz syndrome [RCV001112389] |
Chr14:24242462 [GRCh38]
Chr14:24711668 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.257_258del (p.His86fs) |
deletion |
Dyskeratosis congenita [RCV001215591] |
Chr14:24241929..24241930 [GRCh38]
Chr14:24711135..24711136 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV001219875] |
Chr14:24240543 [GRCh38]
Chr14:24709749 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV001230386] |
Chr14:24240309 [GRCh38]
Chr14:24709515 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter) |
single nucleotide variant |
Dyskeratosis congenita [RCV001040031] |
Chr14:24240558 [GRCh38]
Chr14:24709764 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1130-1G>T |
single nucleotide variant |
Dyskeratosis congenita [RCV001236248] |
Chr14:24240156 [GRCh38]
Chr14:24709362 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 |
copy number gain |
not provided [RCV001249358] |
Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1 |
not provided |
| NM_001099274.3(TINF2):c.1061+1G>T |
single nucleotide variant |
Dyskeratosis congenita [RCV001862412]|Inherited Immunodeficiency Diseases [RCV001027638] |
Chr14:24240418 [GRCh38]
Chr14:24709624 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV001050305]|Dyskeratosis congenita, autosomal dominant 3 [RCV001109634]|Revesz syndrome [RCV001109635] |
Chr14:24241756 [GRCh38]
Chr14:24710962 [GRCh37]
Chr14:14q12 |
benign|likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.507+6G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV001050306]|TINF2-related disorder [RCV003963010]|not specified [RCV001819767] |
Chr14:24241198 [GRCh38]
Chr14:24710404 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV001051809] |
Chr14:24241970 [GRCh38]
Chr14:24711176 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001063130]|See cases [RCV002252307]|TINF2-related disorder [RCV003393833] |
Chr14:24240311 [GRCh38]
Chr14:24709517 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255640]|Dyskeratosis congenita, autosomal dominant 3 [RCV001254614] |
Chr14:24241208 [GRCh38]
Chr14:24710414 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1130-3_1130-2del |
deletion |
Dyskeratosis congenita [RCV001295207] |
Chr14:24240157..24240158 [GRCh38]
Chr14:24709363..24709364 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3 |
copy number gain |
not provided [RCV001259179] |
Chr14:24163771..24818728 [GRCh37]
Chr14:14q11.2-12 |
uncertain significance |
| NM_001099274.3(TINF2):c.494_502del (p.Pro165_Ala167del) |
deletion |
Revesz syndrome [RCV001281048] |
Chr14:24241209..24241217 [GRCh38]
Chr14:24710415..24710423 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV001338548] |
Chr14:24240119 [GRCh38]
Chr14:24709325 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001301574]|not specified [RCV001819990] |
Chr14:24241685 [GRCh38]
Chr14:24710891 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.621C>G (p.Asp207Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001320101] |
Chr14:24240859 [GRCh38]
Chr14:24710065 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV001317734] |
Chr14:24241913 [GRCh38]
Chr14:24711119 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001298957]|Revesz syndrome [RCV001293989] |
Chr14:24241703 [GRCh38]
Chr14:24710909 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.19G>C (p.Ala7Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV001294415] |
Chr14:24242314 [GRCh38]
Chr14:24711520 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV001300146] |
Chr14:24242254 [GRCh38]
Chr14:24711460 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1062-14_1062-11del |
microsatellite |
Dyskeratosis congenita [RCV001415195] |
Chr14:24240341..24240344 [GRCh38]
Chr14:24709547..24709550 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.995G>A (p.Cys332Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001307819] |
Chr14:24240485 [GRCh38]
Chr14:24709691 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1302C>T (p.His434=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001397489]|not provided [RCV001729914] |
Chr14:24239851 [GRCh38]
Chr14:24709057 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV001360298] |
Chr14:24242229 [GRCh38]
Chr14:24711435 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.400-4G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV001392759] |
Chr14:24241315 [GRCh38]
Chr14:24710521 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.233A>G (p.Gln78Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV001364102] |
Chr14:24241954 [GRCh38]
Chr14:24711160 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.896T>C (p.Val299Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV001364679] |
Chr14:24240584 [GRCh38]
Chr14:24709790 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1221+1G>C |
single nucleotide variant |
Dyskeratosis congenita [RCV001303076] |
Chr14:24240063 [GRCh38]
Chr14:24709269 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001323848] |
Chr14:24240074 [GRCh38]
Chr14:24709280 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV001320021] |
Chr14:24240810 [GRCh38]
Chr14:24710016 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV001324092] |
Chr14:24242260 [GRCh38]
Chr14:24711466 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001345960] |
Chr14:24240548 [GRCh38]
Chr14:24709754 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001314771]|Dyskeratosis congenita, autosomal dominant 3 [RCV004584880] |
Chr14:24241034 [GRCh38]
Chr14:24710240 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001341328] |
Chr14:24240325 [GRCh38]
Chr14:24709531 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.278T>C (p.Ile93Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001347666] |
Chr14:24241909 [GRCh38]
Chr14:24711115 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.298-10T>A |
single nucleotide variant |
Dyskeratosis congenita [RCV001321076] |
Chr14:24241786 [GRCh38]
Chr14:24710992 [GRCh37]
Chr14:14q12 |
likely benign|uncertain significance |
| NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV001345471] |
Chr14:24239929 [GRCh38]
Chr14:24709135 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1062-3C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV001347942] |
Chr14:24240333 [GRCh38]
Chr14:24709539 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV001348007] |
Chr14:24240316 [GRCh38]
Chr14:24709522 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.316A>G (p.Lys106Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001323648] |
Chr14:24241758 [GRCh38]
Chr14:24710964 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.251A>G (p.Asn84Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV001309354] |
Chr14:24241936 [GRCh38]
Chr14:24711142 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV001366708] |
Chr14:24242263 [GRCh38]
Chr14:24711469 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1305T>C (p.Gly435=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001412581] |
Chr14:24239848 [GRCh38]
Chr14:24709054 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.45C>G (p.Ala15=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001413718] |
Chr14:24242288 [GRCh38]
Chr14:24711494 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1222-3C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV001358819] |
Chr14:24239934 [GRCh38]
Chr14:24709140 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.297+10C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV001399106] |
Chr14:24241880 [GRCh38]
Chr14:24711086 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1222-4A>T |
single nucleotide variant |
Dyskeratosis congenita [RCV001468303] |
Chr14:24239935 [GRCh38]
Chr14:24709141 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.198G>A (p.Val66=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001430484] |
Chr14:24241989 [GRCh38]
Chr14:24711195 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1285C>T (p.Leu429=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001484589]|TINF2-related disorder [RCV004731157] |
Chr14:24239868 [GRCh38]
Chr14:24709074 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1332T>C (p.Cys444=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001454609] |
Chr14:24239821 [GRCh38]
Chr14:24709027 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.69G>A (p.Val23=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001434856] |
Chr14:24242264 [GRCh38]
Chr14:24711470 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.759A>G (p.Leu253=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001443448] |
Chr14:24240721 [GRCh38]
Chr14:24709927 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1299C>G (p.Gly433=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001408601] |
Chr14:24239854 [GRCh38]
Chr14:24709060 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.399+61del |
deletion |
not provided [RCV001619270]|not specified [RCV003487551] |
Chr14:24241614 [GRCh38]
Chr14:24710820 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.399+46del |
deletion |
not provided [RCV001586830] |
Chr14:24241629 [GRCh38]
Chr14:24710835 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.393G>A (p.Lys131=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001459851] |
Chr14:24241681 [GRCh38]
Chr14:24710887 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.819C>T (p.Ala273=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002077159]|not provided [RCV001699921] |
Chr14:24240661 [GRCh38]
Chr14:24709867 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.492A>G (p.Thr164=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001518702] |
Chr14:24241219 [GRCh38]
Chr14:24710425 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.984T>C (p.Ser328=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001469231] |
Chr14:24240496 [GRCh38]
Chr14:24709702 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1059G>A (p.Lys353=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001523393]|TINF2-related disorder [RCV003931146] |
Chr14:24240421 [GRCh38]
Chr14:24709627 [GRCh37]
Chr14:14q12 |
benign|likely benign |
| NM_001099274.3(TINF2):c.879C>T (p.Leu293=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001498478] |
Chr14:24240601 [GRCh38]
Chr14:24709807 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.400-10C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV001467617] |
Chr14:24241321 [GRCh38]
Chr14:24710527 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.210C>T (p.Ile70=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001505360] |
Chr14:24241977 [GRCh38]
Chr14:24711183 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.400-20_400-18dup |
duplication |
Dyskeratosis congenita [RCV001520059]|not provided [RCV001676012] |
Chr14:24241328..24241329 [GRCh38]
Chr14:24710534..24710535 [GRCh37]
Chr14:14q12 |
benign |
| GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) |
copy number gain |
Seizure [RCV002280625] |
Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3 |
pathogenic |
| NM_001099274.3(TINF2):c.864T>C (p.Phe288=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255936] |
Chr14:24240616 [GRCh38]
Chr14:24709822 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1058dup (p.Glu354fs) |
duplication |
Dyskeratosis congenita [RCV002541167] |
Chr14:24240421..24240422 [GRCh38]
Chr14:24709627..24709628 [GRCh37]
Chr14:14q12 |
pathogenic|uncertain significance |
| NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV001869744]|not specified [RCV001822337] |
Chr14:24240299 [GRCh38]
Chr14:24709505 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.765C>A (p.Gly255=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002074358]|not specified [RCV001822508] |
Chr14:24240715 [GRCh38]
Chr14:24709921 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1009G>T (p.Gly337Ter) |
single nucleotide variant |
not specified [RCV001815096] |
Chr14:24240471 [GRCh38]
Chr14:24709677 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.912G>A (p.Glu304=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002077295]|not specified [RCV001819425] |
Chr14:24240568 [GRCh38]
Chr14:24709774 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.930G>A (p.Ala310=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002542590]|not specified [RCV001819681] |
Chr14:24240550 [GRCh38]
Chr14:24709756 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.83T>A (p.Val28Glu) |
single nucleotide variant |
not specified [RCV001822458] |
Chr14:24242250 [GRCh38]
Chr14:24711456 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.493C>T (p.Pro165Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV001950185] |
Chr14:24241218 [GRCh38]
Chr14:24710424 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.230C>T (p.Ala77Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001929722] |
Chr14:24241957 [GRCh38]
Chr14:24711163 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.388T>C (p.Ser130Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV001874118] |
Chr14:24241686 [GRCh38]
Chr14:24710892 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1222-2A>G |
single nucleotide variant |
Dyskeratosis congenita [RCV002020572] |
Chr14:24239933 [GRCh38]
Chr14:24709139 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002025453] |
Chr14:24242189 [GRCh38]
Chr14:24711395 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1222-3C>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002009138] |
Chr14:24239934 [GRCh38]
Chr14:24709140 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001987999] |
Chr14:24239844 [GRCh38]
Chr14:24709050 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV001909440] |
Chr14:24240284 [GRCh38]
Chr14:24709490 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.344A>G (p.Tyr115Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV001893305] |
Chr14:24241730 [GRCh38]
Chr14:24710936 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.797G>A (p.Arg266Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002042888] |
Chr14:24240683 [GRCh38]
Chr14:24709889 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.342_343del (p.Phe114fs) |
deletion |
Dyskeratosis congenita [RCV002022073] |
Chr14:24241731..24241732 [GRCh38]
Chr14:24710937..24710938 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.716A>C (p.His239Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002040650] |
Chr14:24240764 [GRCh38]
Chr14:24709970 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002043566] |
Chr14:24239862 [GRCh38]
Chr14:24709068 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.364T>A (p.Ser122Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001948867] |
Chr14:24241710 [GRCh38]
Chr14:24710916 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001966345] |
Chr14:24240074 [GRCh38]
Chr14:24709280 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.679C>T (p.Leu227Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV001987018] |
Chr14:24240801 [GRCh38]
Chr14:24710007 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV001987456] |
Chr14:24239862 [GRCh38]
Chr14:24709068 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001985024] |
Chr14:24240316 [GRCh38]
Chr14:24709522 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV001927650] |
Chr14:24239882 [GRCh38]
Chr14:24709088 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001911870] |
Chr14:24240840 [GRCh38]
Chr14:24710046 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.598C>T (p.Leu200Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV001891410] |
Chr14:24241026 [GRCh38]
Chr14:24710232 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.507+6G>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002013386] |
Chr14:24241198 [GRCh38]
Chr14:24710404 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001962059] |
Chr14:24239868 [GRCh38]
Chr14:24709074 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1061+4_1061+7del |
microsatellite |
Dyskeratosis congenita [RCV001901271] |
Chr14:24240412..24240415 [GRCh38]
Chr14:24709618..24709621 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001888869]|Revesz syndrome [RCV002482667]|not specified [RCV003317541] |
Chr14:24240678 [GRCh38]
Chr14:24709884 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV001888378] |
Chr14:24241704 [GRCh38]
Chr14:24710910 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.928G>A (p.Ala310Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV001951661] |
Chr14:24240552 [GRCh38]
Chr14:24709758 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001921788] |
Chr14:24239840 [GRCh38]
Chr14:24709046 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.588G>C (p.Met196Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV001922423] |
Chr14:24241036 [GRCh38]
Chr14:24710242 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV001870577] |
Chr14:24239820 [GRCh38]
Chr14:24709026 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV001972039] |
Chr14:24240296 [GRCh38]
Chr14:24709502 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.176T>C (p.Met59Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002013730] |
Chr14:24242157 [GRCh38]
Chr14:24711363 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002047723]|not provided [RCV003481247]|not specified [RCV003151378] |
Chr14:24241925 [GRCh38]
Chr14:24711131 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.606del (p.Glu202fs) |
deletion |
Dyskeratosis congenita [RCV001954078] |
Chr14:24240874 [GRCh38]
Chr14:24710080 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.215A>T (p.Gln72Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001877491] |
Chr14:24241972 [GRCh38]
Chr14:24711178 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV001960876] |
Chr14:24241750 [GRCh38]
Chr14:24710956 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.297+5G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002032948] |
Chr14:24241885 [GRCh38]
Chr14:24711091 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.400G>A (p.Glu134Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV001981868] |
Chr14:24241311 [GRCh38]
Chr14:24710517 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.131T>A (p.Val44Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV001925238] |
Chr14:24242202 [GRCh38]
Chr14:24711408 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001991542] |
Chr14:24240749 [GRCh38]
Chr14:24709955 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.783C>A (p.Ala261=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001925362]|TINF2-related disorder [RCV004754805] |
Chr14:24240697 [GRCh38]
Chr14:24709903 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.20C>T (p.Ala7Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV001996781] |
Chr14:24242313 [GRCh38]
Chr14:24711519 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV001926055] |
Chr14:24242167 [GRCh38]
Chr14:24711373 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs) |
insertion |
Dyskeratosis congenita [RCV001952679] |
Chr14:24242188..24242189 [GRCh38]
Chr14:24711394..24711395 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1032A>G (p.Pro344=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001993380] |
Chr14:24240448 [GRCh38]
Chr14:24709654 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1281A>G (p.Glu427=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001958758] |
Chr14:24239872 [GRCh38]
Chr14:24709078 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002026926]|Revesz syndrome [RCV002492382] |
Chr14:24239868 [GRCh38]
Chr14:24709074 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV001981793] |
Chr14:24241286 [GRCh38]
Chr14:24710492 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV001959688]|not provided [RCV004770325] |
Chr14:24242205 [GRCh38]
Chr14:24711411 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002048088] |
Chr14:24241071 [GRCh38]
Chr14:24710277 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV001952252] |
Chr14:24240495 [GRCh38]
Chr14:24709701 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1128A>T (p.Pro376=) |
single nucleotide variant |
Dyskeratosis congenita [RCV001920809] |
Chr14:24240264 [GRCh38]
Chr14:24709470 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.508-18C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002105225] |
Chr14:24241134 [GRCh38]
Chr14:24710340 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1061+14A>G |
single nucleotide variant |
Dyskeratosis congenita [RCV002206724]|TINF2-related disorder [RCV003968790] |
Chr14:24240405 [GRCh38]
Chr14:24709611 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1222-5T>G |
single nucleotide variant |
Dyskeratosis congenita [RCV002191113] |
Chr14:24239936 [GRCh38]
Chr14:24709142 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1062-4T>G |
single nucleotide variant |
Dyskeratosis congenita [RCV002086357] |
Chr14:24240334 [GRCh38]
Chr14:24709540 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1290C>A (p.Pro430=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002208117] |
Chr14:24239863 [GRCh38]
Chr14:24709069 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.9G>A (p.Thr3=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002166661] |
Chr14:24242324 [GRCh38]
Chr14:24711530 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1221+14A>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002111170] |
Chr14:24240050 [GRCh38]
Chr14:24709256 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.984dup (p.Lys329Ter) |
duplication |
Dyskeratosis congenita [RCV003530215]|not provided [RCV002211264] |
Chr14:24240495..24240496 [GRCh38]
Chr14:24709701..24709702 [GRCh37]
Chr14:14q12 |
likely pathogenic|uncertain significance |
| NM_001099274.3(TINF2):c.684C>T (p.His228=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002112902] |
Chr14:24240796 [GRCh38]
Chr14:24710002 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.507+14A>G |
single nucleotide variant |
Dyskeratosis congenita [RCV002080429] |
Chr14:24241190 [GRCh38]
Chr14:24710396 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1269C>T (p.Pro423=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002097277] |
Chr14:24239884 [GRCh38]
Chr14:24709090 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.447G>A (p.Lys149=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002212703] |
Chr14:24241264 [GRCh38]
Chr14:24710470 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1155C>T (p.Ser385=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002128331] |
Chr14:24240130 [GRCh38]
Chr14:24709336 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.508-19C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002113630] |
Chr14:24241135 [GRCh38]
Chr14:24710341 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1130-10C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV002094929] |
Chr14:24240165 [GRCh38]
Chr14:24709371 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.508-15T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002106284] |
Chr14:24241131 [GRCh38]
Chr14:24710337 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.399+12T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002158720] |
Chr14:24241663 [GRCh38]
Chr14:24710869 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1060G>A (p.Glu354Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002258571] |
Chr14:24240420 [GRCh38]
Chr14:24709626 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.504G>A (p.Gln168=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002183439]|TINF2-related disorder [RCV003960892] |
Chr14:24241207 [GRCh38]
Chr14:24710413 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1129+15T>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002219584] |
Chr14:24240248 [GRCh38]
Chr14:24709454 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.1269C>A (p.Pro423=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002162723] |
Chr14:24239884 [GRCh38]
Chr14:24709090 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.294G>A (p.Lys98=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002182125] |
Chr14:24241893 [GRCh38]
Chr14:24711099 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.192+13G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV002220660] |
Chr14:24242128 [GRCh38]
Chr14:24711334 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.507+13del |
deletion |
Dyskeratosis congenita [RCV002143250] |
Chr14:24241191 [GRCh38]
Chr14:24710397 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.400-17A>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002199544] |
Chr14:24241328 [GRCh38]
Chr14:24710534 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1188T>C (p.Ser396=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002198282] |
Chr14:24240097 [GRCh38]
Chr14:24709303 [GRCh37]
Chr14:14q12 |
likely benign |
| NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del |
deletion |
Brain-lung-thyroid syndrome [RCV002221171] |
Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3 |
pathogenic |
| NM_001099274.3(TINF2):c.837T>C (p.His279=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003119071] |
Chr14:24240643 [GRCh38]
Chr14:24709849 [GRCh37]
Chr14:14q12 |
likely benign |
| NC_000014.8:g.(?_24711327)_(24731558_?)dup |
duplication |
Dyskeratosis congenita [RCV003122528] |
Chr14:24711327..24731558 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NC_000014.8:g.(?_24707479)_(24711538_?)dup |
duplication |
Dyskeratosis congenita [RCV003122529] |
Chr14:24707479..24711538 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1202dup (p.Asn401fs) |
duplication |
not specified [RCV002248903] |
Chr14:24240082..24240083 [GRCh38]
Chr14:24709288..24709289 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.433G>A (p.Ala145Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002258573] |
Chr14:24241278 [GRCh38]
Chr14:24710484 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255934] |
Chr14:24240863 [GRCh38]
Chr14:24710069 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1222-11del |
deletion |
Dyskeratosis congenita [RCV002257252] |
Chr14:24239942 [GRCh38]
Chr14:24709148 [GRCh37]
Chr14:14q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001099274.3(TINF2):c.280G>C (p.Val94Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002258572] |
Chr14:24241907 [GRCh38]
Chr14:24711113 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.823A>C (p.Thr275Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV002255935] |
Chr14:24240657 [GRCh38]
Chr14:24709863 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002296973] |
Chr14:24240574 [GRCh38]
Chr14:24709780 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.813A>G (p.Gln271=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421352] |
Chr14:24240667 [GRCh38]
Chr14:24709873 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter) |
single nucleotide variant |
Dyskeratosis congenita [RCV002421424] |
Chr14:24240665 [GRCh38]
Chr14:24709871 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002298069] |
Chr14:24240729 [GRCh38]
Chr14:24709935 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs) |
duplication |
Dyskeratosis congenita [RCV002414379] |
Chr14:24240631..24240632 [GRCh38]
Chr14:24709837..24709838 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002616468] |
Chr14:24239873 [GRCh38]
Chr14:24709079 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.126C>T (p.Arg42=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002971096] |
Chr14:24242207 [GRCh38]
Chr14:24711413 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002751344] |
Chr14:24240600 [GRCh38]
Chr14:24709806 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002882126] |
Chr14:24241256 [GRCh38]
Chr14:24710462 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002947898] |
Chr14:24240850 [GRCh38]
Chr14:24710056 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.623C>G (p.Ser208Ter) |
single nucleotide variant |
not provided [RCV002511774] |
Chr14:24240857 [GRCh38]
Chr14:24710063 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002995401] |
Chr14:24240690 [GRCh38]
Chr14:24709896 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.714A>T (p.Thr238=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002863879] |
Chr14:24240766 [GRCh38]
Chr14:24709972 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.400-160T>C |
single nucleotide variant |
not provided [RCV002461701] |
Chr14:24241471 [GRCh38]
Chr14:24710677 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.240G>C (p.Leu80=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002927674] |
Chr14:24241947 [GRCh38]
Chr14:24711153 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1300C>G (p.His434Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002914151] |
Chr14:24239853 [GRCh38]
Chr14:24709059 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.507+20T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002886487] |
Chr14:24241184 [GRCh38]
Chr14:24710390 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.597G>A (p.Leu199=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002786023] |
Chr14:24241027 [GRCh38]
Chr14:24710233 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003078438] |
Chr14:24240785 [GRCh38]
Chr14:24709991 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.769C>T (p.His257Tyr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002639082] |
Chr14:24240711 [GRCh38]
Chr14:24709917 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.27C>T (p.Pro9=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003018810] |
Chr14:24242306 [GRCh38]
Chr14:24711512 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002705322] |
Chr14:24239810 [GRCh38]
Chr14:24709016 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1221+11del |
deletion |
Dyskeratosis congenita [RCV002909349] |
Chr14:24240053 [GRCh38]
Chr14:24709259 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.891C>G (p.Thr297=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002909708] |
Chr14:24240589 [GRCh38]
Chr14:24709795 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.131T>C (p.Val44Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002926850] |
Chr14:24242202 [GRCh38]
Chr14:24711408 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002592280] |
Chr14:24240305 [GRCh38]
Chr14:24709511 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002979486] |
Chr14:24240447 [GRCh38]
Chr14:24709653 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV003079635] |
Chr14:24240461 [GRCh38]
Chr14:24709667 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003645906]|Pulmonary fibrosis [RCV002509813] |
Chr14:24240642 [GRCh38]
Chr14:24709848 [GRCh37]
Chr14:14q12 |
likely risk allele|uncertain significance |
| NM_001099274.3(TINF2):c.1062-18T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV002741459] |
Chr14:24240348 [GRCh38]
Chr14:24709554 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.82G>C (p.Val28Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002918600] |
Chr14:24242251 [GRCh38]
Chr14:24711457 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.400-6C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003041511] |
Chr14:24241317 [GRCh38]
Chr14:24710523 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002700138] |
Chr14:24241067 [GRCh38]
Chr14:24710273 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003082244] |
Chr14:24239869 [GRCh38]
Chr14:24709075 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1130-4A>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003023497] |
Chr14:24240159 [GRCh38]
Chr14:24709365 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002802091] |
Chr14:24239886 [GRCh38]
Chr14:24709092 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV002667645] |
Chr14:24239804 [GRCh38]
Chr14:24709010 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV002740592] |
Chr14:24240313 [GRCh38]
Chr14:24709519 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.530T>G (p.Met177Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002890197] |
Chr14:24241094 [GRCh38]
Chr14:24710300 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.885A>G (p.Ser295=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003024913] |
Chr14:24240595 [GRCh38]
Chr14:24709801 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.250A>C (p.Asn84His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002646961] |
Chr14:24241937 [GRCh38]
Chr14:24711143 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003065712]|Dyskeratosis congenita, autosomal dominant 3 [RCV003447640] |
Chr14:24239904 [GRCh38]
Chr14:24709110 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.64G>A (p.Val22Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV003089846] |
Chr14:24242269 [GRCh38]
Chr14:24711475 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.297+13C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003088025] |
Chr14:24241877 [GRCh38]
Chr14:24711083 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.169del (p.Leu57fs) |
deletion |
Dyskeratosis congenita [RCV002811016] |
Chr14:24242164 [GRCh38]
Chr14:24711370 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.605-17C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003065064] |
Chr14:24240892 [GRCh38]
Chr14:24710098 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1209G>C (p.Gln403His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002938878] |
Chr14:24240076 [GRCh38]
Chr14:24709282 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.378G>A (p.Val126=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002581637] |
Chr14:24241696 [GRCh38]
Chr14:24710902 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV003091570] |
Chr14:24239849 [GRCh38]
Chr14:24709055 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002933686] |
Chr14:24240134 [GRCh38]
Chr14:24709340 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.604+10A>G |
single nucleotide variant |
Dyskeratosis congenita [RCV002647433] |
Chr14:24241010 [GRCh38]
Chr14:24710216 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.17dup (p.Ala7fs) |
duplication |
Dyskeratosis congenita [RCV003063269] |
Chr14:24242315..24242316 [GRCh38]
Chr14:24711521..24711522 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.555T>C (p.Ser185=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002629748] |
Chr14:24241069 [GRCh38]
Chr14:24710275 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.400-12C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003086934] |
Chr14:24241323 [GRCh38]
Chr14:24710529 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002649310] |
Chr14:24241740 [GRCh38]
Chr14:24710946 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002833281] |
Chr14:24240468 [GRCh38]
Chr14:24709674 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs) |
deletion |
Dyskeratosis congenita [RCV002966218] |
Chr14:24240452..24240453 [GRCh38]
Chr14:24709658..24709659 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.138del (p.Gly47fs) |
deletion |
Dyskeratosis congenita [RCV002962452] |
Chr14:24242195 [GRCh38]
Chr14:24711401 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.605-4del |
deletion |
Dyskeratosis congenita [RCV002856974] |
Chr14:24240879 [GRCh38]
Chr14:24710085 [GRCh37]
Chr14:14q12 |
benign |
| NM_001099274.3(TINF2):c.1227T>C (p.Ser409=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002629095]|TINF2-related disorder [RCV003973719] |
Chr14:24239926 [GRCh38]
Chr14:24709132 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1224A>G (p.Glu408=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003047531] |
Chr14:24239929 [GRCh38]
Chr14:24709135 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV002630516]|Dyskeratosis congenita, autosomal dominant 3 [RCV004786728] |
Chr14:24240686 [GRCh38]
Chr14:24709892 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV002810284] |
Chr14:24240128 [GRCh38]
Chr14:24709334 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.394C>T (p.Leu132=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003062805] |
Chr14:24241680 [GRCh38]
Chr14:24710886 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.333G>T (p.Gln111His) |
single nucleotide variant |
Dyskeratosis congenita [RCV002633247] |
Chr14:24241741 [GRCh38]
Chr14:24710947 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1075del (p.Cys359fs) |
deletion |
Dyskeratosis congenita [RCV002943160] |
Chr14:24240317 [GRCh38]
Chr14:24709523 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.120T>C (p.Ser40=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003092315] |
Chr14:24242213 [GRCh38]
Chr14:24711419 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002942262] |
Chr14:24240494 [GRCh38]
Chr14:24709700 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.763G>C (p.Gly255Arg) |
single nucleotide variant |
not provided [RCV003156677] |
Chr14:24240717 [GRCh38]
Chr14:24709923 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.240G>A (p.Leu80=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003067135] |
Chr14:24241947 [GRCh38]
Chr14:24711153 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002607788] |
Chr14:24241098 [GRCh38]
Chr14:24710304 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV002588109] |
Chr14:24240432 [GRCh38]
Chr14:24709638 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.63G>A (p.Gln21=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003073289] |
Chr14:24242270 [GRCh38]
Chr14:24711476 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.495G>A (p.Pro165=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002611406] |
Chr14:24241216 [GRCh38]
Chr14:24710422 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.757C>G (p.Leu253Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003093228] |
Chr14:24240723 [GRCh38]
Chr14:24709929 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1185C>T (p.Asp395=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002606592] |
Chr14:24240100 [GRCh38]
Chr14:24709306 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.891_892insTTGCTCT (p.Gln298fs) |
insertion |
not provided [RCV004779629] |
Chr14:24240588..24240589 [GRCh38]
Chr14:24709794..24709795 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1082T>C (p.Met361Thr) |
single nucleotide variant |
not provided [RCV003141013] |
Chr14:24240310 [GRCh38]
Chr14:24709516 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.851C>A (p.Thr284Lys) |
single nucleotide variant |
not provided [RCV003141014] |
Chr14:24240629 [GRCh38]
Chr14:24709835 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.186G>A (p.Lys62=) |
single nucleotide variant |
not provided [RCV003141015] |
Chr14:24242147 [GRCh38]
Chr14:24711353 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1338_1339del (p.Asp446fs) |
deletion |
Revesz syndrome [RCV003336635] |
Chr14:24239814..24239815 [GRCh38]
Chr14:24709020..24709021 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.136C>T (p.Pro46Ser) |
single nucleotide variant |
not provided [RCV003332577] |
Chr14:24242197 [GRCh38]
Chr14:24711403 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.298-15C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003873147] |
Chr14:24241791 [GRCh38]
Chr14:24710997 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003873792] |
Chr14:24240119 [GRCh38]
Chr14:24709325 [GRCh37]
Chr14:14q12 |
uncertain significance |
| GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 |
copy number gain |
not provided [RCV003485022] |
Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1 |
pathogenic |
| GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1 |
copy number loss |
not provided [RCV003483196] |
Chr14:24445622..28262222 [GRCh37]
Chr14:14q11.2-12 |
likely pathogenic |
| NM_001099274.3(TINF2):c.857dup (p.Met286fs) |
duplication |
TINF2-related disorder [RCV003391518] |
Chr14:24240622..24240623 [GRCh38]
Chr14:24709828..24709829 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530593] |
Chr14:24242238 [GRCh38]
Chr14:24711444 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530594] |
Chr14:24240832 [GRCh38]
Chr14:24710038 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys) |
duplication |
Dyskeratosis congenita [RCV003530867] |
Chr14:24240313..24240314 [GRCh38]
Chr14:24709519..24709520 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.747C>T (p.His249=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530885] |
Chr14:24240733 [GRCh38]
Chr14:24709939 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.297+1G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV003646456] |
Chr14:24241889 [GRCh38]
Chr14:24711095 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.386C>T (p.Ala129Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530747] |
Chr14:24241688 [GRCh38]
Chr14:24710894 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.297+18C>G |
single nucleotide variant |
Dyskeratosis congenita [RCV003530899] |
Chr14:24241872 [GRCh38]
Chr14:24711078 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530901] |
Chr14:24241894 [GRCh38]
Chr14:24711100 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1061+8_1061+9del |
deletion |
Dyskeratosis congenita [RCV003646800] |
Chr14:24240410..24240411 [GRCh38]
Chr14:24709616..24709617 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1209G>T (p.Gln403His) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530638] |
Chr14:24240076 [GRCh38]
Chr14:24709282 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.192+9G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV003530908] |
Chr14:24242132 [GRCh38]
Chr14:24711338 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.193-7C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003646895] |
Chr14:24242001 [GRCh38]
Chr14:24711207 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.631C>T (p.Leu211=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530918] |
Chr14:24240849 [GRCh38]
Chr14:24710055 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646972] |
Chr14:24239864 [GRCh38]
Chr14:24709070 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530662] |
Chr14:24239865 [GRCh38]
Chr14:24709071 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530515] |
Chr14:24242290 [GRCh38]
Chr14:24711496 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1047C>T (p.Ala349=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530664] |
Chr14:24240433 [GRCh38]
Chr14:24709639 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.789A>T (p.Leu263=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647123] |
Chr14:24240691 [GRCh38]
Chr14:24709897 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530523] |
Chr14:24240794 [GRCh38]
Chr14:24710000 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.307G>C (p.Asp103His) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647161] |
Chr14:24241767 [GRCh38]
Chr14:24710973 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.927T>G (p.His309Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530797] |
Chr14:24240553 [GRCh38]
Chr14:24709759 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003530693] |
Chr14:24239922 [GRCh38]
Chr14:24709128 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.605-20G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV003829167] |
Chr14:24240895 [GRCh38]
Chr14:24710101 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.507+12G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV003876654] |
Chr14:24241192 [GRCh38]
Chr14:24710398 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.400-11C>G |
single nucleotide variant |
Dyskeratosis congenita [RCV003646186] |
Chr14:24241322 [GRCh38]
Chr14:24710528 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1329C>T (p.Asp443=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646089] |
Chr14:24239824 [GRCh38]
Chr14:24709030 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646885] |
Chr14:24241948 [GRCh38]
Chr14:24711154 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.297+4A>G |
single nucleotide variant |
Dyskeratosis congenita [RCV003646398] |
Chr14:24241886 [GRCh38]
Chr14:24711092 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647049] |
Chr14:24240149 [GRCh38]
Chr14:24709355 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647147] |
Chr14:24239903 [GRCh38]
Chr14:24709109 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.604+15G>A |
single nucleotide variant |
Dyskeratosis congenita [RCV003647150] |
Chr14:24241005 [GRCh38]
Chr14:24710211 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.529A>T (p.Met177Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647238] |
Chr14:24241095 [GRCh38]
Chr14:24710301 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646550] |
Chr14:24242302 [GRCh38]
Chr14:24711508 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.138T>C (p.Pro46=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646552] |
Chr14:24242195 [GRCh38]
Chr14:24711401 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1035T>C (p.Val345=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646017] |
Chr14:24240445 [GRCh38]
Chr14:24709651 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646021] |
Chr14:24241978 [GRCh38]
Chr14:24711184 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646688] |
Chr14:24241296 [GRCh38]
Chr14:24710502 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646171] |
Chr14:24240566 [GRCh38]
Chr14:24709772 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.297+18C>A |
single nucleotide variant |
Dyskeratosis congenita [RCV003646758] |
Chr14:24241872 [GRCh38]
Chr14:24711078 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646810] |
Chr14:24241892 [GRCh38]
Chr14:24711098 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.900A>G (p.Ile300Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646835] |
Chr14:24240580 [GRCh38]
Chr14:24709786 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646842] |
Chr14:24240470 [GRCh38]
Chr14:24709676 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.414G>A (p.Glu138=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646883] |
Chr14:24241297 [GRCh38]
Chr14:24710503 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003529905] |
Chr14:24240813 [GRCh38]
Chr14:24710019 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.525T>C (p.Ser175=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003529915] |
Chr14:24241099 [GRCh38]
Chr14:24710305 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.831A>G (p.Gly277=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646432] |
Chr14:24240649 [GRCh38]
Chr14:24709855 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.450G>C (p.Leu150=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646480] |
Chr14:24241261 [GRCh38]
Chr14:24710467 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1130-7C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003646323] |
Chr14:24240162 [GRCh38]
Chr14:24709368 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.867C>T (p.Pro289=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647034] |
Chr14:24240613 [GRCh38]
Chr14:24709819 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.604+13T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV003646452] |
Chr14:24241007 [GRCh38]
Chr14:24710213 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647041] |
Chr14:24241020 [GRCh38]
Chr14:24710226 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.919del (p.Glu307fs) |
deletion |
Dyskeratosis congenita [RCV003646734] |
Chr14:24240561 [GRCh38]
Chr14:24709767 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1062-15T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV003646472] |
Chr14:24240345 [GRCh38]
Chr14:24709551 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.968C>T (p.Ala323Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV003647154] |
Chr14:24240512 [GRCh38]
Chr14:24709718 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1010dup (p.Arg338fs) |
duplication |
Dyskeratosis congenita [RCV003647205] |
Chr14:24240469..24240470 [GRCh38]
Chr14:24709675..24709676 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1062-19_1062-18del |
deletion |
Dyskeratosis congenita [RCV003647237] |
Chr14:24240348..24240349 [GRCh38]
Chr14:24709554..24709555 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1302C>A (p.His434Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV003645996] |
Chr14:24239851 [GRCh38]
Chr14:24709057 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.508-10C>T |
single nucleotide variant |
Dyskeratosis congenita [RCV003827009] |
Chr14:24241126 [GRCh38]
Chr14:24710332 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.16G>C (p.Val6Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003646884] |
Chr14:24242317 [GRCh38]
Chr14:24711523 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.9G>C (p.Thr3=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003531059] |
Chr14:24242324 [GRCh38]
Chr14:24711530 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003531078] |
Chr14:24240611 [GRCh38]
Chr14:24709817 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV003531033] |
Chr14:24241057 [GRCh38]
Chr14:24710263 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003851847] |
Chr14:24241224 [GRCh38]
Chr14:24710430 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter) |
single nucleotide variant |
Dyskeratosis congenita [RCV003531042] |
Chr14:24240714 [GRCh38]
Chr14:24709920 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.926A>T (p.His309Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003834629] |
Chr14:24240554 [GRCh38]
Chr14:24709760 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV003531378] |
Chr14:24239846 [GRCh38]
Chr14:24709052 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.298-19T>C |
single nucleotide variant |
Dyskeratosis congenita [RCV003531167] |
Chr14:24241795 [GRCh38]
Chr14:24711001 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.564C>G (p.Ala188=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003835849] |
Chr14:24241060 [GRCh38]
Chr14:24710266 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.948A>G (p.Leu316=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003814318] |
Chr14:24240532 [GRCh38]
Chr14:24709738 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV003834875] |
Chr14:24241685 [GRCh38]
Chr14:24710891 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1062-2A>G |
single nucleotide variant |
Dyskeratosis congenita [RCV003833930] |
Chr14:24240332 [GRCh38]
Chr14:24709538 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV003852592] |
Chr14:24242260 [GRCh38]
Chr14:24711466 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003833332] |
Chr14:24240679 [GRCh38]
Chr14:24709885 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del) |
microsatellite |
Dyskeratosis congenita [RCV003531294] |
Chr14:24240092..24240094 [GRCh38]
Chr14:24709298..24709300 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu) |
single nucleotide variant |
Dyskeratosis congenita [RCV003842704] |
Chr14:24242240 [GRCh38]
Chr14:24711446 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.459G>A (p.Glu153=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003820012] |
Chr14:24241252 [GRCh38]
Chr14:24710458 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.954G>C (p.Met318Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV003861457] |
Chr14:24240526 [GRCh38]
Chr14:24709732 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.399+9G>C |
single nucleotide variant |
Dyskeratosis congenita [RCV003869112] |
Chr14:24241666 [GRCh38]
Chr14:24710872 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1292C>A (p.Pro431His) |
single nucleotide variant |
Dyskeratosis congenita [RCV003821232] |
Chr14:24239861 [GRCh38]
Chr14:24709067 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.934T>C (p.Tyr312His) |
single nucleotide variant |
not provided [RCV003884877] |
Chr14:24240546 [GRCh38]
Chr14:24709752 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1353G>A (p.Leu451=) |
single nucleotide variant |
TINF2-related disorder [RCV003914125] |
Chr14:24239800 [GRCh38]
Chr14:24709006 [GRCh37]
Chr14:14q12 |
likely benign |
| NM_001099274.3(TINF2):c.1208del (p.Gln403fs) |
deletion |
TINF2-related disorder [RCV003946886] |
Chr14:24240077 [GRCh38]
Chr14:24709283 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV004560351] |
Chr14:24240615 [GRCh38]
Chr14:24709821 [GRCh37]
Chr14:14q12 |
likely pathogenic |
| NM_012461.3(TINF2):c.*259GT[2] |
microsatellite |
Dyskeratosis congenita, autosomal dominant 3 [RCV004555941] |
Chr14:24240151..24240152 [GRCh38]
Chr14:24709357..24709358 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1A>G (p.Met1Val) |
single nucleotide variant |
Long telomere syndrome [RCV004566523] |
Chr14:24242332 [GRCh38]
Chr14:24711538 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.591del (p.Trp198fs) |
deletion |
Long telomere syndrome [RCV004566524] |
Chr14:24241033 [GRCh38]
Chr14:24710239 [GRCh37]
Chr14:14q12 |
pathogenic |
| NM_001099274.3(TINF2):c.248_249del (p.Leu83fs) |
deletion |
Long telomere syndrome [RCV004566525]|not provided [RCV004780735] |
Chr14:24241938..24241939 [GRCh38]
Chr14:24711144..24711145 [GRCh37]
Chr14:14q12 |
pathogenic|uncertain significance |
| NM_001099274.3(TINF2):c.1024G>A (p.Glu342Lys) |
single nucleotide variant |
not provided [RCV004793980] |
Chr14:24240456 [GRCh38]
Chr14:24709662 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.508-7C>T |
single nucleotide variant |
not provided [RCV004776062] |
Chr14:24241123 [GRCh38]
Chr14:24710329 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.193-1G>A |
single nucleotide variant |
not provided [RCV004811466] |
Chr14:24241995 [GRCh38]
Chr14:24711201 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1171G>A (p.Asp391Asn) |
single nucleotide variant |
not provided [RCV004772180] |
Chr14:24240114 [GRCh38]
Chr14:24709320 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.399G>C (p.Gln133His) |
single nucleotide variant |
not provided [RCV004762951] |
|
uncertain significance |
| NM_001099274.3(TINF2):c.974C>T (p.Thr325Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal dominant 3 [RCV004764708] |
Chr14:24240506 [GRCh38]
Chr14:24709712 [GRCh37]
Chr14:14q12 |
uncertain significance |
| NM_001099274.3(TINF2):c.1221+5G>A |
single nucleotide variant |
TINF2-related disorder [RCV004730736] |
Chr14:24240059 [GRCh38]
Chr14:24709265 [GRCh37]
Chr14:14q12 |
uncertain significance |
