GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 |
copy number loss |
See cases [RCV000053432] |
Chr17:49137864..52147810 [GRCh38] Chr17:47215226..50225170 [GRCh37] Chr17:44570225..47580169 [NCBI36] Chr17:17q21.32-22 |
pathogenic |
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 |
copy number loss |
See cases [RCV000053433] |
Chr17:49974533..56807609 [GRCh38] Chr17:48051897..54884970 [GRCh37] Chr17:45406896..52239969 [NCBI36] Chr17:17q21.33-22 |
pathogenic |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_016424.5(LUC7L3):c.1295A>G (p.Asn432Ser) |
single nucleotide variant |
not specified [RCV004307728] |
Chr17:50750657 [GRCh38] Chr17:48828018 [GRCh37] Chr17:17q21.33 |
uncertain significance |
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 |
copy number loss |
not provided [RCV000513510] |
Chr17:46481089..51396368 [GRCh37] Chr17:17q21.32-22 |
likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_016424.5(LUC7L3):c.727C>A (p.Arg243Ser) |
single nucleotide variant |
not specified [RCV004164145] |
Chr17:50745753 [GRCh38] Chr17:48823114 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.292C>T (p.Arg98Cys) |
single nucleotide variant |
not specified [RCV004200640] |
Chr17:50741187 [GRCh38] Chr17:48818548 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.987T>A (p.Asp329Glu) |
single nucleotide variant |
not specified [RCV004245286] |
Chr17:50746551 [GRCh38] Chr17:48823912 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1072C>G (p.Arg358Gly) |
single nucleotide variant |
not specified [RCV004211075] |
Chr17:50746636 [GRCh38] Chr17:48823997 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1213A>C (p.Thr405Pro) |
single nucleotide variant |
not specified [RCV004192519] |
Chr17:50750575 [GRCh38] Chr17:48827936 [GRCh37] Chr17:17q21.33 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_016424.5(LUC7L3):c.246G>A (p.Glu82=) |
single nucleotide variant |
not provided [RCV000954512] |
Chr17:50741141 [GRCh38] Chr17:48818502 [GRCh37] Chr17:17q21.33 |
benign |
NM_016424.5(LUC7L3):c.1042C>T (p.Arg348Trp) |
single nucleotide variant |
not specified [RCV004197243] |
Chr17:50746606 [GRCh38] Chr17:48823967 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1265A>G (p.Asp422Gly) |
single nucleotide variant |
not specified [RCV004225248] |
Chr17:50750627 [GRCh38] Chr17:48827988 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1007A>T (p.His336Leu) |
single nucleotide variant |
not specified [RCV004080695] |
Chr17:50746571 [GRCh38] Chr17:48823932 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
not specified [RCV004204037] |
Chr17:50746613 [GRCh38] Chr17:48823974 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1102C>T (p.Arg368Trp) |
single nucleotide variant |
not specified [RCV004081666] |
Chr17:50746666 [GRCh38] Chr17:48824027 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.865A>G (p.Arg289Gly) |
single nucleotide variant |
not specified [RCV004636326] |
Chr17:50745891 [GRCh38] Chr17:48823252 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1218A>C (p.Glu406Asp) |
single nucleotide variant |
not specified [RCV004640275] |
Chr17:50750580 [GRCh38] Chr17:48827941 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.970C>T (p.Arg324Trp) |
single nucleotide variant |
not specified [RCV004261214] |
Chr17:50745996 [GRCh38] Chr17:48823357 [GRCh37] Chr17:17q21.33 |
uncertain significance |
Single allele |
deletion |
Tricho-dento-osseous syndrome [RCV003494599] |
Chr17:46740736..48853218 [GRCh37] Chr17:17q21.32-21.33 |
pathogenic |
NM_016424.5(LUC7L3):c.1097A>G (p.Lys366Arg) |
single nucleotide variant |
not specified [RCV004410881] |
Chr17:50746661 [GRCh38] Chr17:48824022 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.468G>T (p.Gln156His) |
single nucleotide variant |
not specified [RCV004410882] |
Chr17:50743747 [GRCh38] Chr17:48821108 [GRCh37] Chr17:17q21.33 |
uncertain significance |
GRCh37/hg19 17q12-22(chr17:41196270-41277589) |
copy number loss |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] |
Chr17:41196270..41277589 [GRCh37] Chr17:17q12-22 |
pathogenic |
NM_016424.5(LUC7L3):c.727C>T (p.Arg243Cys) |
single nucleotide variant |
not specified [RCV004942192] |
Chr17:50745753 [GRCh38] Chr17:48823114 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.344C>T (p.Ser115Phe) |
single nucleotide variant |
not specified [RCV004640274] |
Chr17:50741239 [GRCh38] Chr17:48818600 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.874A>G (p.Arg292Gly) |
single nucleotide variant |
not specified [RCV004636327] |
Chr17:50745900 [GRCh38] Chr17:48823261 [GRCh37] Chr17:17q21.33 |
uncertain significance |
Single allele |
deletion |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] |
Chr17:41231503..41277589 [GRCh37] Chr17:17q21.31-22 |
pathogenic |
NM_016424.5(LUC7L3):c.1205A>G (p.Asp402Gly) |
single nucleotide variant |
not specified [RCV004942191] |
Chr17:50750567 [GRCh38] Chr17:48827928 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.853C>T (p.Arg285Cys) |
single nucleotide variant |
not specified [RCV004942189] |
Chr17:50745879 [GRCh38] Chr17:48823240 [GRCh37] Chr17:17q21.33 |
uncertain significance |
NM_016424.5(LUC7L3):c.1165A>T (p.Ser389Cys) |
single nucleotide variant |
not specified [RCV004942190] |
Chr17:50750527 [GRCh38] Chr17:48827888 [GRCh37] Chr17:17q21.33 |
uncertain significance |