| NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) |
duplication |
Xeroderma pigmentosum [RCV002255296]|Xeroderma pigmentosum group B [RCV000018055]|not provided [RCV000482017]|not specified [RCV000120802] |
Chr2:127280552..127280553 [GRCh38]
Chr2:128038128..128038129 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic|not provided |
| NM_000122.2(ERCC3):c.2218-6C>A |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000018050] |
Chr2:127257733 [GRCh38]
Chr2:128015309 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000018051] |
Chr2:127292785 [GRCh38]
Chr2:128050361 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) |
single nucleotide variant |
Trichothiodystrophy 2, photosensitive [RCV000018052] |
Chr2:127292726 [GRCh38]
Chr2:128050302 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000018053]|not provided [RCV001851900] |
Chr2:127286772 [GRCh38]
Chr2:128044348 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) |
deletion |
Xeroderma pigmentosum group B [RCV000018054] |
Chr2:127289349..127289350 [GRCh38]
Chr2:128046925..128046926 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| ERCC3, 1-BP INS, 1421A |
insertion |
Xeroderma pigmentosum, complementation group b [RCV000018055] |
Chr2:2q21 |
pathogenic |
| NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000018056] |
Chr2:127279270 [GRCh38]
Chr2:128036846 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.471+1G>A |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000018057] |
Chr2:127292609 [GRCh38]
Chr2:128050185 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.796_797del (p.Gln266fs) |
microsatellite |
Xeroderma pigmentosum group B [RCV000778562] |
Chr2:127289362..127289363 [GRCh38]
Chr2:128046938..128046939 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1929G>T (p.Val643=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000305009]|not provided [RCV000908742] |
Chr2:127271352 [GRCh38]
Chr2:128028928 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 |
copy number loss |
See cases [RCV000054058] |
Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3 |
pathogenic |
| GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 |
copy number loss |
See cases [RCV000054059] |
Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 |
copy number loss |
See cases [RCV000054060] |
Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| NM_000122.1(ERCC3):c.962A>G (p.Glu321Gly) |
single nucleotide variant |
Malignant melanoma [RCV000065047] |
Chr2:127288725 [GRCh38]
Chr2:128046301 [GRCh37]
Chr2:127762771 [NCBI36]
Chr2:2q14.3 |
not provided |
| NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258798]|not provided [RCV001462857]|not specified [RCV000120790] |
Chr2:127261332 [GRCh38]
Chr2:128018908 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance|not provided |
| NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn) |
single nucleotide variant |
Trichothiodystrophy 2, photosensitive [RCV001788035]|not provided [RCV001854617]|not specified [RCV000120791] |
Chr2:127261296 [GRCh38]
Chr2:128018872 [GRCh37]
Chr2:2q14.3 |
uncertain significance|not provided |
| NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257424]|Xeroderma pigmentosum group B [RCV000986805]|not provided [RCV000861013]|not specified [RCV000120792] |
Chr2:127259402 [GRCh38]
Chr2:128016978 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000122.2(ERCC3):c.2182G>A (p.Val728Met) |
single nucleotide variant |
not specified [RCV000120793] |
Chr2:127259331 [GRCh38]
Chr2:128016907 [GRCh37]
Chr2:2q14.3 |
not provided |
| NM_000122.2(ERCC3):c.2207G>T (p.Arg736Ile) |
single nucleotide variant |
not provided [RCV001854618]|not specified [RCV000120794] |
Chr2:127259306 [GRCh38]
Chr2:128016882 [GRCh37]
Chr2:2q14.3 |
uncertain significance|not provided |
| NM_000122.2(ERCC3):c.2303C>T (p.Ala768Val) |
single nucleotide variant |
not provided [RCV001854619]|not specified [RCV000120795] |
Chr2:127257642 [GRCh38]
Chr2:128015218 [GRCh37]
Chr2:2q14.3 |
uncertain significance|not provided |
| NM_000122.2(ERCC3):c.172G>A (p.Ala58Thr) |
single nucleotide variant |
not specified [RCV000120796] |
Chr2:127293575 [GRCh38]
Chr2:128051151 [GRCh37]
Chr2:2q14.3 |
not provided |
| NM_000122.2(ERCC3):c.307A>G (p.Ile103Val) |
single nucleotide variant |
not specified [RCV000120797] |
Chr2:127292774 [GRCh38]
Chr2:128050350 [GRCh37]
Chr2:2q14.3 |
not provided |
| NM_000122.2(ERCC3):c.350A>G (p.Lys117Arg) |
single nucleotide variant |
not provided [RCV001854620]|not specified [RCV000120798] |
Chr2:127292731 [GRCh38]
Chr2:128050307 [GRCh37]
Chr2:2q14.3 |
uncertain significance|not provided |
| NM_000122.2(ERCC3):c.682G>C (p.Gly228Arg) |
single nucleotide variant |
not specified [RCV000120799] |
Chr2:127289477 [GRCh38]
Chr2:128047053 [GRCh37]
Chr2:2q14.3 |
not provided |
| NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) |
single nucleotide variant |
Trichothiodystrophy 2, photosensitive [RCV001294157]|Xeroderma pigmentosum [RCV002257425]|Xeroderma pigmentosum group B [RCV000765502]|Xeroderma pigmentosum group B [RCV001129472]|not provided [RCV001362006]|not specified [RCV000120800] |
Chr2:127288840 [GRCh38]
Chr2:128046416 [GRCh37]
Chr2:2q14.3 |
uncertain significance|not provided |
| NM_000122.2(ERCC3):c.1333A>T (p.Thr445Ser) |
single nucleotide variant |
not provided [RCV001854621]|not specified [RCV000120801] |
Chr2:127286712 [GRCh38]
Chr2:128044288 [GRCh37]
Chr2:2q14.3 |
uncertain significance|not provided |
| NM_000122.2(ERCC3):c.1731-11T>C |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000362103]|not provided [RCV002057568] |
Chr2:127272972 [GRCh38]
Chr2:128030548 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1731-251T>G |
single nucleotide variant |
not provided [RCV001545548] |
Chr2:127273212 [GRCh38]
Chr2:128030788 [GRCh37]
Chr2:2q14.3 |
likely benign |
| GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 |
copy number loss |
See cases [RCV000135455] |
Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 |
copy number loss |
See cases [RCV000136714] |
Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1 |
pathogenic |
| GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 |
copy number loss |
See cases [RCV000137467] |
Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1 |
likely pathogenic |
| GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 |
copy number gain |
See cases [RCV000138369] |
Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1 |
uncertain significance |
| GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 |
copy number loss |
See cases [RCV000141584] |
Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.279C>T (p.Tyr93=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV000407654]|not provided [RCV002057569] |
Chr2:127292802 [GRCh38]
Chr2:128050378 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.822+14C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000388395]|not provided [RCV001464767] |
Chr2:127289323 [GRCh38]
Chr2:128046899 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.2112G>A (p.Ser704=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255366]|Xeroderma pigmentosum group B [RCV000402887]|not provided [RCV000963605] |
Chr2:127259401 [GRCh38]
Chr2:128016977 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256208]|Xeroderma pigmentosum group B [RCV000404854]|not provided [RCV001366056] |
Chr2:127259433 [GRCh38]
Chr2:128017009 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255367]|Xeroderma pigmentosum group B [RCV000303849] |
Chr2:127280603 [GRCh38]
Chr2:128038179 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.657+15G>A |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000294077] |
Chr2:127289674 [GRCh38]
Chr2:128047250 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256207]|Xeroderma pigmentosum group B [RCV000301311]|not provided [RCV002057567] |
Chr2:127259407 [GRCh38]
Chr2:128016983 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255368]|Xeroderma pigmentosum group B [RCV000263793]|not provided [RCV000908712] |
Chr2:127286890 [GRCh38]
Chr2:128044466 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000287017]|not provided [RCV001850776] |
Chr2:127292827 [GRCh38]
Chr2:128050403 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) |
single nucleotide variant |
Trichothiodystrophy 2, photosensitive [RCV001828326]|Xeroderma pigmentosum [RCV002256209]|Xeroderma pigmentosum group B [RCV000290626]|not provided [RCV001859962] |
Chr2:127292696 [GRCh38]
Chr2:128050272 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000267438]|not provided [RCV000946634] |
Chr2:127280489 [GRCh38]
Chr2:128038065 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000122.2(ERCC3):c.1027+3A>G |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000260209]|not provided [RCV000711619] |
Chr2:127288657 [GRCh38]
Chr2:128046233 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000122.2(ERCC3):c.615G>A (p.Glu205=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000384967]|not provided [RCV000963793] |
Chr2:127289731 [GRCh38]
Chr2:128047307 [GRCh37]
Chr2:2q14.3 |
benign|uncertain significance |
| NM_000122.2(ERCC3):c.1078C>T (p.Arg360Cys) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000373572]|not provided [RCV001372395] |
Chr2:127286967 [GRCh38]
Chr2:128044543 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000318857]|not provided [RCV000860904] |
Chr2:127286926 [GRCh38]
Chr2:128044502 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000122.2(ERCC3):c.1156G>A (p.Asp386Asn) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000358594] |
Chr2:127286889 [GRCh38]
Chr2:128044465 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.618C>T (p.Ala206=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000330405]|not provided [RCV000896796] |
Chr2:127289728 [GRCh38]
Chr2:128047304 [GRCh37]
Chr2:2q14.3 |
benign|uncertain significance |
| NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257645]|Xeroderma pigmentosum group B [RCV000334035] |
Chr2:127288661 [GRCh38]
Chr2:128046237 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val) |
single nucleotide variant |
Xeroderma pigmentosum [RCV000339981]|not provided [RCV001338905] |
Chr2:127259408 [GRCh38]
Chr2:128016984 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.29-15G>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000341619]|not provided [RCV002057570] |
Chr2:127293733 [GRCh38]
Chr2:128051309 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) |
single nucleotide variant |
Trichothiodystrophy 2, photosensitive [RCV001294155]|Xeroderma pigmentosum group B [RCV000345555]|not provided [RCV001859963] |
Chr2:127292722 [GRCh38]
Chr2:128050298 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.*106T>C |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000278999]|not provided [RCV001590970] |
Chr2:127257490 [GRCh38]
Chr2:128015066 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) |
single nucleotide variant |
Xeroderma pigmentosum [RCV001175535]|Xeroderma pigmentosum group B [RCV000986812]|not provided [RCV000255849] |
Chr2:127292756 [GRCh38]
Chr2:128050332 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000122.2(ERCC3):c.-19C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000301939] |
Chr2:127294100 [GRCh38]
Chr2:128051676 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.*29C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000336428]|not provided [RCV001552569] |
Chr2:127257567 [GRCh38]
Chr2:128015143 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|uncertain significance |
| NM_000122.1(ERCC3):c.-69C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000356723]|not provided [RCV001539980] |
Chr2:127294150 [GRCh38]
Chr2:128051726 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000122.2(ERCC3):c.*259G>A |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000294126]|not provided [RCV001683327] |
Chr2:127257337 [GRCh38]
Chr2:128014913 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000122.2(ERCC3):c.*177A>G |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000389520] |
Chr2:127257419 [GRCh38]
Chr2:128014995 [GRCh37]
Chr2:2q14.3 |
benign|uncertain significance |
| NM_000122.2(ERCC3):c.*242dup |
duplication |
Xeroderma pigmentosum [RCV000351335] |
Chr2:127257353..127257354 [GRCh38]
Chr2:128014929..128014930 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2120A>G (p.Glu707Gly) |
single nucleotide variant |
not provided [RCV001760463] |
Chr2:127259393 [GRCh38]
Chr2:128016969 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| Single allele |
deletion |
See cases [RCV001568390] |
Chr2:124348648..129410245 [GRCh38]
Chr2:2q14.3-21.1 |
not provided |
| NM_000122.2(ERCC3):c.28+8G>A |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000405663] |
Chr2:127294046 [GRCh38]
Chr2:128051622 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.1(ERCC3):c.-98A>G |
single nucleotide variant |
Xeroderma pigmentosum [RCV000374936] |
Chr2:127294179 [GRCh38]
Chr2:128051755 [GRCh37]
Chr2:2q14.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| NM_000122.2(ERCC3):c.658-7C>G |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256408]|Xeroderma pigmentosum group B [RCV001764724]|not provided [RCV001480670]|not specified [RCV000612099] |
Chr2:127289508 [GRCh38]
Chr2:128047084 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 |
copy number loss |
See cases [RCV000512348] |
Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000122.2(ERCC3):c.2064+334_2064+343del |
microsatellite |
not provided [RCV001541384] |
Chr2:127260885..127260894 [GRCh38]
Chr2:128018461..128018470 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.2203T>C (p.Ser735Pro) |
single nucleotide variant |
not provided [RCV000940515] |
Chr2:127259310 [GRCh38]
Chr2:128016886 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1528-192C>A |
single nucleotide variant |
not provided [RCV001691265] |
Chr2:127279567 [GRCh38]
Chr2:128037143 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.472-99G>T |
single nucleotide variant |
not provided [RCV001681428] |
Chr2:127290372 [GRCh38]
Chr2:128047948 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.823-108G>T |
single nucleotide variant |
not provided [RCV001648659] |
Chr2:127288972 [GRCh38]
Chr2:128046548 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1291A>C (p.Lys431Gln) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001766807]|not provided [RCV000991968] |
Chr2:127286754 [GRCh38]
Chr2:128044330 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1827+267C>T |
single nucleotide variant |
not provided [RCV001551462] |
Chr2:127272598 [GRCh38]
Chr2:128030174 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.29-87C>T |
single nucleotide variant |
not provided [RCV001551810] |
Chr2:127293805 [GRCh38]
Chr2:128051381 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.823-177G>T |
single nucleotide variant |
not provided [RCV001585083] |
Chr2:127289041 [GRCh38]
Chr2:128046617 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1342+157del |
deletion |
not provided [RCV001577952] |
Chr2:127286546 [GRCh38]
Chr2:128044122 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001133016] |
Chr2:127259433 [GRCh38]
Chr2:128017009 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000986806] |
Chr2:127271348 [GRCh38]
Chr2:128028924 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000986811]|not provided [RCV001858655] |
Chr2:127292621 [GRCh38]
Chr2:128050197 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002259043]|Xeroderma pigmentosum group B [RCV001132079]|not provided [RCV000882310] |
Chr2:127257719 [GRCh38]
Chr2:128015295 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1410C>G (p.Leu470=) |
single nucleotide variant |
not provided [RCV000903338] |
Chr2:127280564 [GRCh38]
Chr2:128038140 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.384C>T (p.Ser128=) |
single nucleotide variant |
not provided [RCV000914876] |
Chr2:127292697 [GRCh38]
Chr2:128050273 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1509C>T (p.Ala503=) |
single nucleotide variant |
not provided [RCV000928982] |
Chr2:127280465 [GRCh38]
Chr2:128038041 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1920A>G (p.Leu640=) |
single nucleotide variant |
not provided [RCV000924546] |
Chr2:127271361 [GRCh38]
Chr2:128028937 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs) |
deletion |
Xeroderma pigmentosum group B [RCV000779279]|not provided [RCV001856170] |
Chr2:127272934..127272935 [GRCh38]
Chr2:128030510..128030511 [GRCh37]
Chr2:2q14.3 |
pathogenic|uncertain significance |
| NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000770819] |
Chr2:127289763 [GRCh38]
Chr2:128047339 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1008G>A (p.Gly336=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255547]|not provided [RCV000861115] |
Chr2:127288679 [GRCh38]
Chr2:128046255 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_000122.2(ERCC3):c.2334G>A (p.Lys778=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255570]|not provided [RCV000893880] |
Chr2:127257611 [GRCh38]
Chr2:128015187 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1887dup (p.Gly630fs) |
duplication |
Xeroderma pigmentosum group B [RCV000779278] |
Chr2:127271393..127271394 [GRCh38]
Chr2:128028969..128028970 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1700C>T (p.Ala567Val) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001766813]|not provided [RCV000997198] |
Chr2:127279203 [GRCh38]
Chr2:128036779 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1828-35C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000986809] |
Chr2:127271488 [GRCh38]
Chr2:128029064 [GRCh37]
Chr2:2q14.3 |
benign |
| GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1 |
copy number loss |
not provided [RCV001005309] |
Chr2:118872395..128069813 [GRCh37]
Chr2:2q14.2-14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1828-32A>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000986807] |
Chr2:127271485 [GRCh38]
Chr2:128029061 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1828-33C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000986808] |
Chr2:127271486 [GRCh38]
Chr2:128029062 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1182C>T (p.Ser394=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001136454]|not provided [RCV002070587] |
Chr2:127286863 [GRCh38]
Chr2:128044439 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256688]|Xeroderma pigmentosum group B [RCV001133018] |
Chr2:127271370 [GRCh38]
Chr2:128028946 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) |
single nucleotide variant |
Trichothiodystrophy 2, photosensitive [RCV001294156]|not provided [RCV000894918] |
Chr2:127292664 [GRCh38]
Chr2:128050240 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1335C>T (p.Thr445=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001136453]|not provided [RCV000964873] |
Chr2:127286710 [GRCh38]
Chr2:128044286 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.2172C>T (p.Ala724=) |
single nucleotide variant |
not provided [RCV000894124] |
Chr2:127259341 [GRCh38]
Chr2:128016917 [GRCh37]
Chr2:2q14.3 |
likely benign |
| GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 |
copy number loss |
See cases [RCV001194541] |
Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2 |
likely pathogenic |
| NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001136452]|not provided [RCV001301220] |
Chr2:127280563 [GRCh38]
Chr2:128038139 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258141]|Xeroderma pigmentosum group B [RCV001133122]|not provided [RCV001873529] |
Chr2:127293603 [GRCh38]
Chr2:128051179 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2187G>A (p.Val729=) |
single nucleotide variant |
not provided [RCV000936682] |
Chr2:127259326 [GRCh38]
Chr2:128016902 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) |
single nucleotide variant |
not provided [RCV000997199] |
Chr2:127279315 [GRCh38]
Chr2:128036891 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000122.2(ERCC3):c.1152T>C (p.Ile384=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001129469] |
Chr2:127286893 [GRCh38]
Chr2:128044469 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.-31G>A |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001133124] |
Chr2:127294112 [GRCh38]
Chr2:128051688 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.*83C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001132078] |
Chr2:127257513 [GRCh38]
Chr2:128015089 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1731-148A>C |
single nucleotide variant |
not provided [RCV001571393] |
Chr2:127273109 [GRCh38]
Chr2:128030685 [GRCh37]
Chr2:2q14.3 |
likely benign |
| Single allele |
single nucleotide variant |
not provided [RCV001663172] |
Chr2:127294421 [GRCh38]
Chr2:128051997 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.2218-64G>A |
single nucleotide variant |
not provided [RCV001690463] |
Chr2:127257791 [GRCh38]
Chr2:128015367 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1731-196G>A |
single nucleotide variant |
not provided [RCV001584973] |
Chr2:127273157 [GRCh38]
Chr2:128030733 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1528-9G>A |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256592]|not provided [RCV000907754] |
Chr2:127279384 [GRCh38]
Chr2:128036960 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.2218-5G>A |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255546]|Xeroderma pigmentosum group B [RCV001132081]|not provided [RCV000860911] |
Chr2:127257732 [GRCh38]
Chr2:128015308 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1743C>T (p.Tyr581=) |
single nucleotide variant |
not provided [RCV000980534] |
Chr2:127272949 [GRCh38]
Chr2:128030525 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1924C>A (p.Arg642=) |
single nucleotide variant |
not provided [RCV000899543] |
Chr2:127271357 [GRCh38]
Chr2:128028933 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001129471]|not provided [RCV001856686] |
Chr2:127286969 [GRCh38]
Chr2:128044545 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2218-6C>T |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256615]|Xeroderma pigmentosum group B [RCV001132082]|not provided [RCV000935765] |
Chr2:127257733 [GRCh38]
Chr2:128015309 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|uncertain significance |
| NM_000122.2(ERCC3):c.1828-36C>T |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV000986810] |
Chr2:127271489 [GRCh38]
Chr2:128029065 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1731-59T>G |
single nucleotide variant |
not provided [RCV001562428] |
Chr2:127273020 [GRCh38]
Chr2:128030596 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1945+120A>G |
single nucleotide variant |
not provided [RCV001637175] |
Chr2:127271216 [GRCh38]
Chr2:128028792 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.2065-267A>G |
single nucleotide variant |
not provided [RCV001557474] |
Chr2:127259715 [GRCh38]
Chr2:128017291 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1497T>C (p.Asn499_Gly500=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255848] |
Chr2:127280477 [GRCh38]
Chr2:128038053 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.122C>T (p.Ala41Val) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257075] |
Chr2:127293625 [GRCh38]
Chr2:128051201 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1343-10G>C |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257076] |
Chr2:127280641 [GRCh38]
Chr2:128038217 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.472-10G>A |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257082] |
Chr2:127290283 [GRCh38]
Chr2:128047859 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1527+269G>T |
single nucleotide variant |
not provided [RCV001566081] |
Chr2:127280178 [GRCh38]
Chr2:128037754 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.2248A>C (p.Met750Leu) |
single nucleotide variant |
not provided [RCV001550529] |
Chr2:127257697 [GRCh38]
Chr2:128015273 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.472-293G>A |
single nucleotide variant |
not provided [RCV001636455] |
Chr2:127290566 [GRCh38]
Chr2:128048142 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.471+118G>A |
single nucleotide variant |
not provided [RCV001621455] |
Chr2:127292492 [GRCh38]
Chr2:128050068 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1828-37del |
deletion |
not provided [RCV001595574] |
Chr2:127271490 [GRCh38]
Chr2:128029066 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.2064+282A>G |
single nucleotide variant |
not provided [RCV001656103] |
Chr2:127260946 [GRCh38]
Chr2:128018522 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.472-200G>A |
single nucleotide variant |
not provided [RCV001594058] |
Chr2:127290473 [GRCh38]
Chr2:128048049 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1827+64A>G |
single nucleotide variant |
not provided [RCV001658420] |
Chr2:127272801 [GRCh38]
Chr2:128030377 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.235-61A>G |
single nucleotide variant |
not provided [RCV001608850] |
Chr2:127292907 [GRCh38]
Chr2:128050483 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1027+269G>A |
single nucleotide variant |
not provided [RCV001594318] |
Chr2:127288391 [GRCh38]
Chr2:128045967 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1528-250C>T |
single nucleotide variant |
not provided [RCV001637702] |
Chr2:127279625 [GRCh38]
Chr2:128037201 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.2218-91G>A |
single nucleotide variant |
not provided [RCV001637818] |
Chr2:127257818 [GRCh38]
Chr2:128015394 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.235-215A>G |
single nucleotide variant |
not provided [RCV001548703] |
Chr2:127293061 [GRCh38]
Chr2:128050637 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1110T>C (p.Ser370=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001129470] |
Chr2:127286935 [GRCh38]
Chr2:128044511 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.*220G>C |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001129361] |
Chr2:127257376 [GRCh38]
Chr2:128014952 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.*138G>C |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001129362] |
Chr2:127257458 [GRCh38]
Chr2:128015034 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1730+266C>T |
single nucleotide variant |
not provided [RCV001610947] |
Chr2:127278907 [GRCh38]
Chr2:128036483 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1342+231C>A |
single nucleotide variant |
not provided [RCV001691730] |
Chr2:127286472 [GRCh38]
Chr2:128044048 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.471+52A>G |
single nucleotide variant |
not provided [RCV001644470] |
Chr2:127292558 [GRCh38]
Chr2:128050134 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.471+186T>C |
single nucleotide variant |
not provided [RCV001685678] |
Chr2:127292424 [GRCh38]
Chr2:128050000 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg) |
single nucleotide variant |
not provided [RCV001051064] |
Chr2:127293715 [GRCh38]
Chr2:128051291 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.32A>T (p.Lys11Met) |
single nucleotide variant |
not provided [RCV001051065] |
Chr2:127293715 [GRCh38]
Chr2:128051291 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001132080]|not provided [RCV001856706] |
Chr2:127257721 [GRCh38]
Chr2:128015297 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.529G>A (p.Val177Ile) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001132191] |
Chr2:127289817 [GRCh38]
Chr2:128047393 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258139]|Xeroderma pigmentosum group B [RCV001132192]|not provided [RCV001308354] |
Chr2:127292767 [GRCh38]
Chr2:128050343 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258140]|Xeroderma pigmentosum group B [RCV001133015]|not provided [RCV001873528] |
Chr2:127259426 [GRCh38]
Chr2:128017002 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1986G>A (p.Leu662=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001133017] |
Chr2:127261306 [GRCh38]
Chr2:128018882 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001133123] |
Chr2:127293616 [GRCh38]
Chr2:128051192 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) |
duplication |
not provided [RCV001090271] |
Chr2:127272929..127272930 [GRCh38]
Chr2:128030505..128030506 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000122.2(ERCC3):c.1854G>A (p.Pro618=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258204]|not provided [RCV001326876] |
Chr2:127271427 [GRCh38]
Chr2:128029003 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2026C>T (p.Arg676Trp) |
single nucleotide variant |
not provided [RCV001305476] |
Chr2:127261266 [GRCh38]
Chr2:128018842 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1540A>G (p.Met514Val) |
single nucleotide variant |
not provided [RCV001325521] |
Chr2:127279363 [GRCh38]
Chr2:128036939 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1757del (p.Gln586fs) |
deletion |
Xeroderma pigmentosum [RCV002256755]|not provided [RCV001382841] |
Chr2:127272935 [GRCh38]
Chr2:128030511 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000122.2(ERCC3):c.471+4A>G |
single nucleotide variant |
not provided [RCV001309455] |
Chr2:127292606 [GRCh38]
Chr2:128050182 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2285A>G (p.His762Arg) |
single nucleotide variant |
not provided [RCV001321907] |
Chr2:127257660 [GRCh38]
Chr2:128015236 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.657C>T (p.Ala219=) |
single nucleotide variant |
not provided [RCV001306362] |
Chr2:127289689 [GRCh38]
Chr2:128047265 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1342+19A>G |
single nucleotide variant |
not provided [RCV001504401] |
Chr2:127286684 [GRCh38]
Chr2:128044260 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.336T>C (p.His112=) |
single nucleotide variant |
not provided [RCV001454085] |
Chr2:127292745 [GRCh38]
Chr2:128050321 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001523810]|not provided [RCV001871730] |
Chr2:127280620 [GRCh38]
Chr2:128038196 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_000122.2(ERCC3):c.1410C>T (p.Leu470=) |
single nucleotide variant |
not provided [RCV001482038] |
Chr2:127280564 [GRCh38]
Chr2:128038140 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1053G>C (p.Val351=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256789]|not provided [RCV001473594] |
Chr2:127286992 [GRCh38]
Chr2:128044568 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1946-256C>G |
single nucleotide variant |
not provided [RCV001615534] |
Chr2:127261602 [GRCh38]
Chr2:128019178 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.658-24G>C |
single nucleotide variant |
not provided [RCV001652730] |
Chr2:127289525 [GRCh38]
Chr2:128047101 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.862del (p.Glu288fs) |
deletion |
not provided [RCV001384575] |
Chr2:127288825 [GRCh38]
Chr2:128046401 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.662C>T (p.Ser221Phe) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258485] |
Chr2:127289497 [GRCh38]
Chr2:128047073 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.500A>G (p.Lys167Arg) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761675] |
Chr2:127290245 [GRCh38]
Chr2:128047821 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.822+5G>A |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761674] |
Chr2:127289332 [GRCh38]
Chr2:128046908 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256834]|Xeroderma pigmentosum group B [RCV001761906]|not provided [RCV001868796] |
Chr2:127279354 [GRCh38]
Chr2:128036930 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2259C>T (p.Ala753=) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761902] |
Chr2:127257686 [GRCh38]
Chr2:128015262 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1130A>T (p.Gln377Leu) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761909] |
Chr2:127286915 [GRCh38]
Chr2:128044491 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1635G>A (p.Gln545_Phe546=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255849] |
Chr2:127279268 [GRCh38]
Chr2:128036844 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1904A>G (p.Gln635Arg) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257077] |
Chr2:127271377 [GRCh38]
Chr2:128028953 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2248A>G (p.Met750Val) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257079] |
Chr2:127257697 [GRCh38]
Chr2:128015273 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.637A>G (p.Thr213Ala) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257083] |
Chr2:127289709 [GRCh38]
Chr2:128047285 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.593G>A (p.Arg198His) |
single nucleotide variant |
not provided [RCV001758540] |
Chr2:127289753 [GRCh38]
Chr2:128047329 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1947G>A (p.Gly649_Met650=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257078] |
Chr2:127261345 [GRCh38]
Chr2:128018921 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.411C>G (p.Thr137_Glu138=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257081] |
Chr2:127292670 [GRCh38]
Chr2:128050246 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1297C>G (p.Gln433Glu) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258482] |
Chr2:127286748 [GRCh38]
Chr2:128044324 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.386T>C (p.Val129Ala) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258484] |
Chr2:127292695 [GRCh38]
Chr2:128050271 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1559G>A (p.Arg520Gln) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761905] |
Chr2:127279344 [GRCh38]
Chr2:128036920 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1900C>T (p.Arg634Cys) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761903] |
Chr2:127271381 [GRCh38]
Chr2:128028957 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu) |
single nucleotide variant |
Trichothiodystrophy 2, photosensitive [RCV001788989] |
Chr2:127280517 [GRCh38]
Chr2:128038093 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.31A>G (p.Lys11Glu) |
single nucleotide variant |
not provided [RCV001767228] |
Chr2:127293716 [GRCh38]
Chr2:128051292 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761908]|not provided [RCV001780443] |
Chr2:127286883 [GRCh38]
Chr2:128044459 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1015G>T (p.Val339Phe) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761910] |
Chr2:127288672 [GRCh38]
Chr2:128046248 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1895C>T (p.Ser632Phe) |
single nucleotide variant |
Xeroderma pigmentosum group B [RCV001761904] |
Chr2:127271386 [GRCh38]
Chr2:128028962 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1385_1386del (p.His461_Cys462insTer) |
deletion |
not provided [RCV001783206] |
Chr2:127280588..127280589 [GRCh38]
Chr2:128038164..128038165 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) |
duplication |
not provided [RCV001822132] |
Chr2:127286924..127286925 [GRCh38]
Chr2:128044500..128044501 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2q13-14.3(chr2:113188197-128144700) |
copy number loss |
not specified [RCV002053220] |
Chr2:113188197..128144700 [GRCh37]
Chr2:2q13-14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.521+3A>C |
single nucleotide variant |
not provided [RCV001895826] |
Chr2:127290221 [GRCh38]
Chr2:128047797 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1760G>A (p.Gly587Glu) |
single nucleotide variant |
not provided [RCV001971235] |
Chr2:127272932 [GRCh38]
Chr2:128030508 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.968G>A (p.Ser323Asn) |
single nucleotide variant |
not provided [RCV002008893] |
Chr2:127288719 [GRCh38]
Chr2:128046295 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1336A>G (p.Ile446Val) |
single nucleotide variant |
not provided [RCV001947481] |
Chr2:127286709 [GRCh38]
Chr2:128044285 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256850]|not provided [RCV001863747] |
Chr2:127293523 [GRCh38]
Chr2:128051099 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.5G>A (p.Gly2Asp) |
single nucleotide variant |
not provided [RCV001971666] |
Chr2:127294077 [GRCh38]
Chr2:128051653 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1005G>A (p.Ser335=) |
single nucleotide variant |
not provided [RCV002025434] |
Chr2:127288682 [GRCh38]
Chr2:128046258 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1831G>C (p.Gly611Arg) |
single nucleotide variant |
not provided [RCV002025809] |
Chr2:127271450 [GRCh38]
Chr2:128029026 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.877G>A (p.Ala293Thr) |
single nucleotide variant |
not provided [RCV001864044] |
Chr2:127288810 [GRCh38]
Chr2:128046386 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.659_660insA (p.Ser221fs) |
insertion |
not provided [RCV001970221] |
Chr2:127289499..127289500 [GRCh38]
Chr2:128047075..128047076 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1057G>C (p.Ala353Pro) |
single nucleotide variant |
not provided [RCV002044837] |
Chr2:127286988 [GRCh38]
Chr2:128044564 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.240C>T (p.Pro80=) |
single nucleotide variant |
not provided [RCV001949397] |
Chr2:127292841 [GRCh38]
Chr2:128050417 [GRCh37]
Chr2:2q14.3 |
likely benign |
| GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 |
copy number loss |
not provided [RCV001832883] |
Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2 |
pathogenic |
| NM_000122.2(ERCC3):c.2305C>A (p.Pro769Thr) |
single nucleotide variant |
not provided [RCV001927419] |
Chr2:127257640 [GRCh38]
Chr2:128015216 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1944A>T (p.Lys648Asn) |
single nucleotide variant |
not provided [RCV002002860] |
Chr2:127271337 [GRCh38]
Chr2:128028913 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3 |
copy number gain |
not provided [RCV001825178] |
Chr2:127864458..128083342 [GRCh37]
Chr2:2q14.3 |
not provided |
| NM_000122.2(ERCC3):c.777AGA[3] (p.Glu263_Glu264del) |
microsatellite |
not provided [RCV001909202] |
Chr2:127289368..127289373 [GRCh38]
Chr2:128046944..128046949 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.823G>C (p.Glu275Gln) |
single nucleotide variant |
not provided [RCV002039659] |
Chr2:127288864 [GRCh38]
Chr2:128046440 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 |
copy number gain |
not provided [RCV001832896] |
Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1636T>C (p.Phe546Leu) |
single nucleotide variant |
not provided [RCV001967542] |
Chr2:127279267 [GRCh38]
Chr2:128036843 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1079G>A (p.Arg360His) |
single nucleotide variant |
not provided [RCV001891323] |
Chr2:127286966 [GRCh38]
Chr2:128044542 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.943G>C (p.Val315Leu) |
single nucleotide variant |
not provided [RCV001986590] |
Chr2:127288744 [GRCh38]
Chr2:128046320 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1223G>A (p.Ser408Asn) |
single nucleotide variant |
not provided [RCV001914025] |
Chr2:127286822 [GRCh38]
Chr2:128044398 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.430A>G (p.Ser144Gly) |
single nucleotide variant |
not provided [RCV002021891] |
Chr2:127292651 [GRCh38]
Chr2:128050227 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1000C>G (p.Arg334Gly) |
single nucleotide variant |
not provided [RCV001964641] |
Chr2:127288687 [GRCh38]
Chr2:128046263 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NC_000002.11:g.(?_127806102)_(128432598_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2W [RCV001928002]|Myopathy, centronuclear, 2 [RCV001916346] |
Chr2:127806102..128432598 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.667A>G (p.Thr223Ala) |
single nucleotide variant |
not provided [RCV001970321] |
Chr2:127289492 [GRCh38]
Chr2:128047068 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NC_000002.11:g.(?_128044259)_(128044613_?)del |
deletion |
not provided [RCV001872766] |
Chr2:128044259..128044613 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1773A>C (p.Gln591His) |
single nucleotide variant |
not provided [RCV001928344] |
Chr2:127272919 [GRCh38]
Chr2:128030495 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1628C>T (p.Ala543Val) |
single nucleotide variant |
not provided [RCV001948747] |
Chr2:127279275 [GRCh38]
Chr2:128036851 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2q14.3(chr2:128024782-129332242) |
copy number gain |
not specified [RCV002053228] |
Chr2:128024782..129332242 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NC_000002.11:g.(?_127860149)_(128036971_?)dup |
duplication |
not provided [RCV001872767] |
Chr2:127860149..128036971 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1670A>G (p.Lys557Arg) |
single nucleotide variant |
not provided [RCV001969739] |
Chr2:127279233 [GRCh38]
Chr2:128036809 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2293C>T (p.Arg765Trp) |
single nucleotide variant |
not provided [RCV001964884] |
Chr2:127257652 [GRCh38]
Chr2:128015228 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1886A>T (p.His629Leu) |
single nucleotide variant |
not provided [RCV001889518] |
Chr2:127271395 [GRCh38]
Chr2:128028971 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2270T>A (p.Val757Glu) |
single nucleotide variant |
not provided [RCV002043250] |
Chr2:127257675 [GRCh38]
Chr2:128015251 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.217T>G (p.Ser73Ala) |
single nucleotide variant |
not provided [RCV002041244] |
Chr2:127293530 [GRCh38]
Chr2:128051106 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.29-10T>C |
single nucleotide variant |
not provided [RCV002003409] |
Chr2:127293728 [GRCh38]
Chr2:128051304 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1403C>T (p.Ala468Val) |
single nucleotide variant |
not provided [RCV001940088] |
Chr2:127280571 [GRCh38]
Chr2:128038147 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.234+4del |
deletion |
not provided [RCV001960929] |
Chr2:127293509 [GRCh38]
Chr2:128051085 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.890T>C (p.Phe297Ser) |
single nucleotide variant |
not provided [RCV002031037] |
Chr2:127288797 [GRCh38]
Chr2:128046373 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1436A>G (p.Asp479Gly) |
single nucleotide variant |
not provided [RCV001887716] |
Chr2:127280538 [GRCh38]
Chr2:128038114 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1082G>C (p.Cys361Ser) |
single nucleotide variant |
not provided [RCV001918217] |
Chr2:127286963 [GRCh38]
Chr2:128044539 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1250C>T (p.Thr417Ile) |
single nucleotide variant |
not provided [RCV001904173] |
Chr2:127286795 [GRCh38]
Chr2:128044371 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1004C>T (p.Ser335Leu) |
single nucleotide variant |
not provided [RCV002038259] |
Chr2:127288683 [GRCh38]
Chr2:128046259 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1727A>G (p.Asn576Ser) |
single nucleotide variant |
not provided [RCV002035550] |
Chr2:127279176 [GRCh38]
Chr2:128036752 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2294G>A (p.Arg765Gln) |
single nucleotide variant |
not provided [RCV001864802] |
Chr2:127257651 [GRCh38]
Chr2:128015227 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.678_680del (p.Ser227del) |
deletion |
not provided [RCV002026125] |
Chr2:127289479..127289481 [GRCh38]
Chr2:128047055..128047057 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.72T>G (p.Asp24Glu) |
single nucleotide variant |
not provided [RCV001973303] |
Chr2:127293675 [GRCh38]
Chr2:128051251 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.109G>A (p.Ala37Thr) |
single nucleotide variant |
not provided [RCV002049946] |
Chr2:127293638 [GRCh38]
Chr2:128051214 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.991G>A (p.Gly331Arg) |
single nucleotide variant |
not provided [RCV001939189] |
Chr2:127288696 [GRCh38]
Chr2:128046272 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.694A>G (p.Thr232Ala) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258316]|not provided [RCV002047440] |
Chr2:127289465 [GRCh38]
Chr2:128047041 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2064+4C>T |
single nucleotide variant |
not provided [RCV001996326] |
Chr2:127261224 [GRCh38]
Chr2:128018800 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.143A>G (p.Glu48Gly) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258358]|not provided [RCV002032127] |
Chr2:127293604 [GRCh38]
Chr2:128051180 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1165A>T (p.Ile389Phe) |
single nucleotide variant |
not provided [RCV002038818] |
Chr2:127286880 [GRCh38]
Chr2:128044456 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1358G>A (p.Arg453Lys) |
single nucleotide variant |
not provided [RCV001932492] |
Chr2:127280616 [GRCh38]
Chr2:128038192 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) |
single nucleotide variant |
not provided [RCV001935189] |
Chr2:127279183 [GRCh38]
Chr2:128036759 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.429C>T (p.Leu143=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002259146]|not provided [RCV001930184] |
Chr2:127292652 [GRCh38]
Chr2:128050228 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.2159C>G (p.Thr720Ser) |
single nucleotide variant |
not provided [RCV001903920] |
Chr2:127259354 [GRCh38]
Chr2:128016930 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1721G>A (p.Arg574Gln) |
single nucleotide variant |
not provided [RCV001900851] |
Chr2:127279182 [GRCh38]
Chr2:128036758 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.655G>A (p.Ala219Thr) |
single nucleotide variant |
not provided [RCV001975718] |
Chr2:127289691 [GRCh38]
Chr2:128047267 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2086A>G (p.Met696Val) |
single nucleotide variant |
not provided [RCV001931681] |
Chr2:127259427 [GRCh38]
Chr2:128017003 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1378G>T (p.Ala460Ser) |
single nucleotide variant |
not provided [RCV001897227] |
Chr2:127280596 [GRCh38]
Chr2:128038172 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.584G>T (p.Arg195Leu) |
single nucleotide variant |
not provided [RCV002047545] |
Chr2:127289762 [GRCh38]
Chr2:128047338 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys) |
single nucleotide variant |
not provided [RCV001865105] |
Chr2:127259424 [GRCh38]
Chr2:128017000 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.326G>A (p.Arg109Gln) |
single nucleotide variant |
not provided [RCV001957364] |
Chr2:127292755 [GRCh38]
Chr2:128050331 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.226C>G (p.Leu76Val) |
single nucleotide variant |
not provided [RCV002012533] |
Chr2:127293521 [GRCh38]
Chr2:128051097 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2306C>T (p.Pro769Leu) |
single nucleotide variant |
not provided [RCV001917655] |
Chr2:127257639 [GRCh38]
Chr2:128015215 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1926G>A (p.Arg642=) |
single nucleotide variant |
not provided [RCV001904565] |
Chr2:127271355 [GRCh38]
Chr2:128028931 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1924C>T (p.Arg642Trp) |
single nucleotide variant |
not provided [RCV001960354] |
Chr2:127271357 [GRCh38]
Chr2:128028933 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2286C>G (p.His762Gln) |
single nucleotide variant |
not provided [RCV001939140] |
Chr2:127257659 [GRCh38]
Chr2:128015235 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.657+1G>A |
single nucleotide variant |
not provided [RCV001973143] |
Chr2:127289688 [GRCh38]
Chr2:128047264 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000122.2(ERCC3):c.2064+5A>G |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255708]|not provided [RCV001959915] |
Chr2:127261223 [GRCh38]
Chr2:128018799 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1150A>T (p.Ile384Phe) |
single nucleotide variant |
not provided [RCV001991461] |
Chr2:127286895 [GRCh38]
Chr2:128044471 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.892C>T (p.Arg298Trp) |
single nucleotide variant |
not provided [RCV001961132] |
Chr2:127288795 [GRCh38]
Chr2:128046371 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1814T>A (p.Ile605Asn) |
single nucleotide variant |
not provided [RCV002028934] |
Chr2:127272878 [GRCh38]
Chr2:128030454 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1451T>C (p.Ile484Thr) |
single nucleotide variant |
not provided [RCV002050187] |
Chr2:127280523 [GRCh38]
Chr2:128038099 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.565C>A (p.Leu189Ile) |
single nucleotide variant |
not provided [RCV001904332] |
Chr2:127289781 [GRCh38]
Chr2:128047357 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.412G>A (p.Glu138Lys) |
single nucleotide variant |
not provided [RCV001938866] |
Chr2:127292669 [GRCh38]
Chr2:128050245 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1346A>G (p.Lys449Arg) |
single nucleotide variant |
not provided [RCV001898854] |
Chr2:127280628 [GRCh38]
Chr2:128038204 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.992G>T (p.Gly331Val) |
single nucleotide variant |
not provided [RCV002018088] |
Chr2:127288695 [GRCh38]
Chr2:128046271 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) |
single nucleotide variant |
not provided [RCV001884884] |
Chr2:127280626 [GRCh38]
Chr2:128038202 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.777AGA[4] (p.Glu264del) |
microsatellite |
not provided [RCV002014061] |
Chr2:127289368..127289370 [GRCh38]
Chr2:128046944..128046946 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1317C>G (p.Ile439Met) |
single nucleotide variant |
not provided [RCV001936887] |
Chr2:127286728 [GRCh38]
Chr2:128044304 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.721A>G (p.Lys241Glu) |
single nucleotide variant |
not provided [RCV001998772] |
Chr2:127289438 [GRCh38]
Chr2:128047014 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1201A>G (p.Ile401Val) |
single nucleotide variant |
not provided [RCV001996569] |
Chr2:127286844 [GRCh38]
Chr2:128044420 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.383G>T (p.Ser128Ile) |
single nucleotide variant |
not provided [RCV001921292] |
Chr2:127292698 [GRCh38]
Chr2:128050274 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.701G>A (p.Arg234Gln) |
single nucleotide variant |
not provided [RCV001930186] |
Chr2:127289458 [GRCh38]
Chr2:128047034 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) |
single nucleotide variant |
not provided [RCV001956455] |
Chr2:127259382 [GRCh38]
Chr2:128016958 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_000122.2(ERCC3):c.2263G>A (p.Asp755Asn) |
single nucleotide variant |
not provided [RCV001935834]|not specified [RCV002246597] |
Chr2:127257682 [GRCh38]
Chr2:128015258 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2260G>A (p.Asp754Asn) |
single nucleotide variant |
not provided [RCV001876776] |
Chr2:127257685 [GRCh38]
Chr2:128015261 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2072C>T (p.Thr691Met) |
single nucleotide variant |
not provided [RCV001937632] |
Chr2:127259441 [GRCh38]
Chr2:128017017 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1417G>A (p.Glu473Lys) |
single nucleotide variant |
not provided [RCV002048107] |
Chr2:127280557 [GRCh38]
Chr2:128038133 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2208A>C (p.Arg736Ser) |
single nucleotide variant |
not provided [RCV001919752] |
Chr2:127259305 [GRCh38]
Chr2:128016881 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.1342+6C>G |
single nucleotide variant |
not provided [RCV001979140] |
Chr2:127286697 [GRCh38]
Chr2:128044273 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2077C>T (p.Leu693Phe) |
single nucleotide variant |
not provided [RCV002051020] |
Chr2:127259436 [GRCh38]
Chr2:128017012 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.2109T>C (p.Phe703=) |
single nucleotide variant |
not provided [RCV001989516] |
Chr2:127259404 [GRCh38]
Chr2:128016980 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1731-6C>T |
single nucleotide variant |
not provided [RCV002087617] |
Chr2:127272967 [GRCh38]
Chr2:128030543 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.225C>T (p.Pro75=) |
single nucleotide variant |
not provided [RCV002085667] |
Chr2:127293522 [GRCh38]
Chr2:128051098 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.823-20C>T |
single nucleotide variant |
not provided [RCV002074492] |
Chr2:127288884 [GRCh38]
Chr2:128046460 [GRCh37]
Chr2:2q14.3 |
likely benign |
| GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 |
copy number gain |
2q13q22.3 microduplication syndrome [RCV002226436] |
Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3 |
pathogenic |
| NM_000122.2(ERCC3):c.1528-11C>T |
single nucleotide variant |
not provided [RCV002170188] |
Chr2:127279386 [GRCh38]
Chr2:128036962 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258386]|not provided [RCV002125123] |
Chr2:127280525 [GRCh38]
Chr2:128038101 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.49C>A (p.Arg17=) |
single nucleotide variant |
not provided [RCV002144926] |
Chr2:127293698 [GRCh38]
Chr2:128051274 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.2064+8T>A |
single nucleotide variant |
not provided [RCV002126830] |
Chr2:127261220 [GRCh38]
Chr2:128018796 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1027+13A>G |
single nucleotide variant |
not provided [RCV002089401] |
Chr2:127288647 [GRCh38]
Chr2:128046223 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1730+16T>G |
single nucleotide variant |
not provided [RCV002187055] |
Chr2:127279157 [GRCh38]
Chr2:128036733 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.234+9G>T |
single nucleotide variant |
not provided [RCV002146361] |
Chr2:127293504 [GRCh38]
Chr2:128051080 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.2112G>T (p.Ser704=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002256905]|not provided [RCV002209906] |
Chr2:127259401 [GRCh38]
Chr2:128016977 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1302G>A (p.Glu434=) |
single nucleotide variant |
not provided [RCV002090131] |
Chr2:127286743 [GRCh38]
Chr2:128044319 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1752G>A (p.Thr584=) |
single nucleotide variant |
not provided [RCV002095792] |
Chr2:127272940 [GRCh38]
Chr2:128030516 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.315G>A (p.Glu105=) |
single nucleotide variant |
not provided [RCV002086535] |
Chr2:127292766 [GRCh38]
Chr2:128050342 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1299G>A (p.Gln433=) |
single nucleotide variant |
not provided [RCV002094037] |
Chr2:127286746 [GRCh38]
Chr2:128044322 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.741C>T (p.Asp247=) |
single nucleotide variant |
not provided [RCV002150004] |
Chr2:127289418 [GRCh38]
Chr2:128046994 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1515C>T (p.Val505=) |
single nucleotide variant |
not provided [RCV002071423] |
Chr2:127280459 [GRCh38]
Chr2:128038035 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.105G>A (p.Gln35=) |
single nucleotide variant |
not provided [RCV002081019] |
Chr2:127293642 [GRCh38]
Chr2:128051218 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.792G>A (p.Glu264=) |
single nucleotide variant |
not provided [RCV002097260] |
Chr2:127289367 [GRCh38]
Chr2:128046943 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1023C>A (p.Pro341=) |
single nucleotide variant |
not provided [RCV002186463] |
Chr2:127288664 [GRCh38]
Chr2:128046240 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.726T>C (p.Ser242=) |
single nucleotide variant |
not provided [RCV002132496] |
Chr2:127289433 [GRCh38]
Chr2:128047009 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_000122.2(ERCC3):c.2218-11C>T |
single nucleotide variant |
not provided [RCV002146647] |
Chr2:127257738 [GRCh38]
Chr2:128015314 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1342+8G>T |
single nucleotide variant |
not provided [RCV002201595] |
Chr2:127286695 [GRCh38]
Chr2:128044271 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.29-23_29-20del |
deletion |
not provided [RCV002153932] |
Chr2:127293738..127293741 [GRCh38]
Chr2:128051314..128051317 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.942T>C (p.Ala314=) |
single nucleotide variant |
not provided [RCV002179744] |
Chr2:127288745 [GRCh38]
Chr2:128046321 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.930A>G (p.Leu310=) |
single nucleotide variant |
not provided [RCV002122065] |
Chr2:127288757 [GRCh38]
Chr2:128046333 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1038G>A (p.Lys346=) |
single nucleotide variant |
not provided [RCV002123975] |
Chr2:127287007 [GRCh38]
Chr2:128044583 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1212C>T (p.Ser404=) |
single nucleotide variant |
not provided [RCV002120684] |
Chr2:127286833 [GRCh38]
Chr2:128044409 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1588C>A (p.Arg530=) |
single nucleotide variant |
not provided [RCV002099549] |
Chr2:127279315 [GRCh38]
Chr2:128036891 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.225C>A (p.Pro75=) |
single nucleotide variant |
not provided [RCV002083327] |
Chr2:127293522 [GRCh38]
Chr2:128051098 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.28+20C>T |
single nucleotide variant |
not provided [RCV002102110] |
Chr2:127294034 [GRCh38]
Chr2:128051610 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.29-9A>G |
single nucleotide variant |
not provided [RCV002216828] |
Chr2:127293727 [GRCh38]
Chr2:128051303 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1730+8T>C |
single nucleotide variant |
not provided [RCV002177622] |
Chr2:127279165 [GRCh38]
Chr2:128036741 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.348C>T (p.Tyr116=) |
single nucleotide variant |
not provided [RCV002160551] |
Chr2:127292733 [GRCh38]
Chr2:128050309 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1731-17G>A |
single nucleotide variant |
not provided [RCV002142006] |
Chr2:127272978 [GRCh38]
Chr2:128030554 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.823-15G>A |
single nucleotide variant |
not provided [RCV002182289] |
Chr2:127288879 [GRCh38]
Chr2:128046455 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1011C>A (p.Val337_Ile338=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255847] |
Chr2:127288676 [GRCh38]
Chr2:128046252 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.235-1G>A |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257080] |
Chr2:127292847 [GRCh38]
Chr2:128050423 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_000122.2(ERCC3):c.816C>G (p.Val272=) |
single nucleotide variant |
not provided [RCV002138889] |
Chr2:127289343 [GRCh38]
Chr2:128046919 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1028-19G>A |
single nucleotide variant |
not provided [RCV002135492] |
Chr2:127287036 [GRCh38]
Chr2:128044612 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1224C>T (p.Ser408=) |
single nucleotide variant |
not provided [RCV002119633] |
Chr2:127286821 [GRCh38]
Chr2:128044397 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.753C>T (p.Phe251=) |
single nucleotide variant |
not provided [RCV002100188] |
Chr2:127289406 [GRCh38]
Chr2:128046982 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.2292G>A (p.Ser764=) |
single nucleotide variant |
not provided [RCV002141099] |
Chr2:127257653 [GRCh38]
Chr2:128015229 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.927C>T (p.Asp309=) |
single nucleotide variant |
not provided [RCV002098673] |
Chr2:127288760 [GRCh38]
Chr2:128046336 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1416C>T (p.Arg472=) |
single nucleotide variant |
not provided [RCV002203816] |
Chr2:127280558 [GRCh38]
Chr2:128038134 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1984C>T (p.Leu662=) |
single nucleotide variant |
not provided [RCV002201676] |
Chr2:127261308 [GRCh38]
Chr2:128018884 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.657+16G>C |
single nucleotide variant |
not provided [RCV002119532] |
Chr2:127289673 [GRCh38]
Chr2:128047249 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1704A>G (p.Leu568=) |
single nucleotide variant |
not provided [RCV002160034] |
Chr2:127279199 [GRCh38]
Chr2:128036775 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.111G>T (p.Ala37=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002255727]|not provided [RCV002159912] |
Chr2:127293636 [GRCh38]
Chr2:128051212 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.522-11C>T |
single nucleotide variant |
not provided [RCV002156773] |
Chr2:127289835 [GRCh38]
Chr2:128047411 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.172G>T (p.Ala58Ser) |
single nucleotide variant |
not specified [RCV002222862] |
Chr2:127293575 [GRCh38]
Chr2:128051151 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_000122.2(ERCC3):c.658-15C>T |
single nucleotide variant |
not provided [RCV002124169] |
Chr2:127289516 [GRCh38]
Chr2:128047092 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1945+10C>A |
single nucleotide variant |
not provided [RCV002199135] |
Chr2:127271326 [GRCh38]
Chr2:128028902 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.801A>G (p.Thr267=) |
single nucleotide variant |
not provided [RCV002161001] |
Chr2:127289358 [GRCh38]
Chr2:128046934 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.330A>C (p.Pro110=) |
single nucleotide variant |
not provided [RCV002163236] |
Chr2:127292751 [GRCh38]
Chr2:128050327 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.690C>T (p.Pro230=) |
single nucleotide variant |
not provided [RCV002142735] |
Chr2:127289469 [GRCh38]
Chr2:128047045 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.882A>G (p.Glu294_Tyr295=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257084] |
Chr2:127288805 [GRCh38]
Chr2:128046381 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_000122.2(ERCC3):c.1510A>C (p.Lys504Gln) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258483] |
Chr2:127280464 [GRCh38]
Chr2:128038040 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
