GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 |
copy number loss |
See cases [RCV000051043] |
Chr17:5732977..8038822 [GRCh38] Chr17:5636297..7942140 [GRCh37] Chr17:5577021..7882865 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] |
Chr17:6958978..8335684 [GRCh38] Chr17:6862297..8239002 [GRCh37] Chr17:6803021..8179727 [NCBI36] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] |
Chr17:6307904..8842949 [GRCh38] Chr17:6211224..8746266 [GRCh37] Chr17:6151948..8686991 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 |
copy number loss |
See cases [RCV000053426] |
Chr17:7478195..8435524 [GRCh38] Chr17:7381514..8338842 [GRCh37] Chr17:7322238..8279567 [NCBI36] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 |
copy number gain |
See cases [RCV000134851] |
Chr17:5732953..12095349 [GRCh38] Chr17:5636273..11998666 [GRCh37] Chr17:5576997..11939391 [NCBI36] Chr17:17p13.2-12 |
pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 |
copy number loss |
See cases [RCV000138214] |
Chr17:162016..7697012 [GRCh38] Chr17:45835..7600330 [GRCh37] Chr17:11807..7541055 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 |
copy number gain |
See cases [RCV000138220] |
Chr17:6361393..7750863 [GRCh38] Chr17:6264713..7654181 [GRCh37] Chr17:6205437..7594906 [NCBI36] Chr17:17p13.2-13.1 |
likely pathogenic |
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 |
copy number gain |
See cases [RCV000138531] |
Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3 |
copy number gain |
See cases [RCV000139519] |
Chr17:7544902..7670581 [GRCh38] Chr17:7448219..7573899 [GRCh37] Chr17:7388943..7514624 [NCBI36] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 |
copy number gain |
See cases [RCV000142236] |
Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 |
copy number loss |
See cases [RCV000445992] |
Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
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 |
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 |
copy number gain |
See cases [RCV000511388] |
Chr17:7431013..9868179 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 |
copy number gain |
See cases [RCV000511786] |
Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] |
Chr17:6934163..8217978 [GRCh37] Chr17:17p13.1 |
drug response |
GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1 |
copy number loss |
Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626434] |
Chr17:7603519..7768486 [GRCh38] Chr17:7506837..7671804 [GRCh37] Chr17:17p13.1 |
drug response |
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 17p13.3-12(chr17:525-11186432)x3 |
copy number gain |
not provided [RCV000683866] |
Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
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 |
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 |
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 |
NM_001040.5(SHBG):c.657A>G (p.Val219=) |
single nucleotide variant |
not provided [RCV000924929] |
Chr17:7631690 [GRCh38] Chr17:7535008 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_001040.5(SHBG):c.74G>A (p.Arg25His) |
single nucleotide variant |
not provided [RCV000881975] |
Chr17:7630246 [GRCh38] Chr17:7533564 [GRCh37] Chr17:17p13.1 |
benign |
GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1 |
copy number loss |
not provided [RCV001006867] |
Chr17:7381536..7535411 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.1126G>A (p.Asp376Asn) |
single nucleotide variant |
Sex Hormone-Binding Globulin Deficiency [RCV001175127] |
Chr17:7633269 [GRCh38] Chr17:7536587 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.10:g.(?_7123304)_(7606804_?)del |
deletion |
Common variable immunodeficiency [RCV003107751] |
Chr17:7123304..7606804 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.10G>A (p.Val4Met) |
single nucleotide variant |
not specified [RCV004311487] |
Chr17:7627626 [GRCh38] Chr17:7530944 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.65G>A (p.Arg22His) |
single nucleotide variant |
not provided [RCV000896150] |
Chr17:7630237 [GRCh38] Chr17:7533555 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_001040.5(SHBG):c.535G>C (p.Ala179Pro) |
single nucleotide variant |
not provided [RCV000888844] |
Chr17:7631341 [GRCh38] Chr17:7534659 [GRCh37] Chr17:17p13.1 |
benign |
NM_001040.5(SHBG):c.942G>A (p.Arg314=) |
single nucleotide variant |
not provided [RCV000888845] |
Chr17:7632841 [GRCh38] Chr17:7536159 [GRCh37] Chr17:17p13.1 |
benign |
NC_000017.10:g.(?_6589506)_(8151374_?)dup |
duplication |
Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] |
Chr17:6589506..8151374 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.120C>T (p.His40=) |
single nucleotide variant |
not provided [RCV000957427] |
Chr17:7630424 [GRCh38] Chr17:7533742 [GRCh37] Chr17:17p13.1 |
benign |
NM_001040.5(SHBG):c.1066G>A (p.Asp356Asn) |
single nucleotide variant |
SHBG-related disorder [RCV003966240]|not provided [RCV001598080] |
Chr17:7633209 [GRCh38] Chr17:7536527 [GRCh37] Chr17:17p13.1 |
benign |
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 |
copy number gain |
not provided [RCV001259299] |
Chr17:6650649..8040151 [GRCh37] Chr17:17p13.1 |
pathogenic |
NC_000017.10:g.(?_6328780)_(7606804_?)dup |
duplication |
Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] |
Chr17:6328780..7606804 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7241916-8692213) |
copy number loss |
not specified [RCV002052586] |
Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7020054-8086290) |
copy number loss |
not specified [RCV002052585] |
Chr17:7020054..8086290 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3 |
copy number gain |
not provided [RCV001834463] |
Chr17:7453504..7734096 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.10:g.(?_7120455)_(8151423_?)del |
deletion |
Li-Fraumeni syndrome [RCV003111420] |
Chr17:7120455..8151423 [GRCh37] Chr17:17p13.1 |
pathogenic |
NC_000017.10:g.(?_7123304)_(8193254_?)del |
deletion |
Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] |
Chr17:7123304..8193254 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3 |
copy number gain |
not provided [RCV002474996] |
Chr17:7381537..8068400 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.411G>A (p.Met137Ile) |
single nucleotide variant |
not specified [RCV004149363] |
Chr17:7626549 [GRCh38] Chr17:7529867 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_133491.5(SAT2):c.26C>A (p.Ala9Asp) |
single nucleotide variant |
not specified [RCV004239112] |
Chr17:7627610 [GRCh38] Chr17:7530928 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.841C>A (p.Leu281Ile) |
single nucleotide variant |
not specified [RCV004139970] |
Chr17:7632004 [GRCh38] Chr17:7535322 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.1016T>C (p.Leu339Pro) |
single nucleotide variant |
not specified [RCV004111564] |
Chr17:7632915 [GRCh38] Chr17:7536233 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_004860.4(FXR2):c.10C>G (p.Leu4Val) |
single nucleotide variant |
not specified [RCV004086189] |
Chr17:7614523 [GRCh38] Chr17:7517841 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.472T>G (p.Cys158Gly) |
single nucleotide variant |
not specified [RCV004230303] |
Chr17:7626488 [GRCh38] Chr17:7529806 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.125C>T (p.Pro42Leu) |
single nucleotide variant |
not specified [RCV004145530] |
Chr17:7630429 [GRCh38] Chr17:7533747 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.313C>A (p.Pro105Thr) |
single nucleotide variant |
not specified [RCV004186567] |
Chr17:7630789 [GRCh38] Chr17:7534107 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.584G>T (p.Arg195Leu) |
single nucleotide variant |
not specified [RCV004117804] |
Chr17:7631617 [GRCh38] Chr17:7534935 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.473G>C (p.Gly158Ala) |
single nucleotide variant |
not specified [RCV004133948] |
Chr17:7631279 [GRCh38] Chr17:7534597 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.115G>A (p.Ala39Thr) |
single nucleotide variant |
not specified [RCV004083269] |
Chr17:7630419 [GRCh38] Chr17:7533737 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.277G>T (p.Asp93Tyr) |
single nucleotide variant |
not specified [RCV004180613] |
Chr17:7630753 [GRCh38] Chr17:7534071 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.334A>C (p.Lys112Gln) |
single nucleotide variant |
not specified [RCV004137516] |
Chr17:7626764 [GRCh38] Chr17:7530082 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.809C>T (p.Thr270Ile) |
single nucleotide variant |
not specified [RCV004072725] |
Chr17:7631972 [GRCh38] Chr17:7535290 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.1037G>A (p.Arg346His) |
single nucleotide variant |
not specified [RCV004183328] |
Chr17:7632936 [GRCh38] Chr17:7536254 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.62T>G (p.Ile21Ser) |
single nucleotide variant |
not specified [RCV004241349] |
Chr17:7627574 [GRCh38] Chr17:7530892 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.484A>G (p.Ser162Gly) |
single nucleotide variant |
not specified [RCV004146394] |
Chr17:7631290 [GRCh38] Chr17:7534608 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.147T>A (p.Asn49Lys) |
single nucleotide variant |
not specified [RCV004110744] |
Chr17:7627198 [GRCh38] Chr17:7530516 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 |
copy number loss |
not provided [RCV003222936] |
Chr17:7004894..7766789 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_004860.4(FXR2):c.14C>T (p.Ala5Val) |
single nucleotide variant |
not specified [RCV004287429] |
Chr17:7614519 [GRCh38] Chr17:7517837 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.974C>A (p.Ala325Asp) |
single nucleotide variant |
not specified [RCV004263414] |
Chr17:7632873 [GRCh38] Chr17:7536191 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 |
copy number gain |
Chromosome 17p13.3 duplication syndrome [RCV003327726] |
Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12 |
pathogenic |
NM_001040.5(SHBG):c.212C>G (p.Ser71Cys) |
single nucleotide variant |
not specified [RCV004351045] |
Chr17:7630688 [GRCh38] Chr17:7534006 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.1093G>A (p.Gly365Ser) |
single nucleotide variant |
not specified [RCV004357953] |
Chr17:7633236 [GRCh38] Chr17:7536554 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.439G>T (p.Gly147Trp) |
single nucleotide variant |
not specified [RCV004350860] |
Chr17:7631245 [GRCh38] Chr17:7534563 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.350C>T (p.Thr117Met) |
single nucleotide variant |
not specified [RCV004347444] |
Chr17:7630826 [GRCh38] Chr17:7534144 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.867T>C (p.Ser289=) |
single nucleotide variant |
not provided [RCV003419614] |
Chr17:7632766 [GRCh38] Chr17:7536084 [GRCh37] Chr17:17p13.1 |
likely benign |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 |
copy number gain |
not specified [RCV003987215] |
Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |
NM_001040.5(SHBG):c.833G>A (p.Ser278Asn) |
single nucleotide variant |
SHBG-related disorder [RCV003942168] |
Chr17:7631996 [GRCh38] Chr17:7535314 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_001040.5(SHBG):c.394-10C>G |
single nucleotide variant |
SHBG-related disorder [RCV003943954] |
Chr17:7631190 [GRCh38] Chr17:7534508 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_001040.5(SHBG):c.459G>C (p.Leu153=) |
single nucleotide variant |
SHBG-related disorder [RCV003934308] |
Chr17:7631265 [GRCh38] Chr17:7534583 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_133491.5(SAT2):c.13C>T (p.Arg5Trp) |
single nucleotide variant |
not specified [RCV004450242] |
Chr17:7627623 [GRCh38] Chr17:7530941 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.25G>A (p.Ala9Thr) |
single nucleotide variant |
not specified [RCV004450243] |
Chr17:7627611 [GRCh38] Chr17:7530929 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.302G>C (p.Arg101Pro) |
single nucleotide variant |
not specified [RCV004450244] |
Chr17:7626945 [GRCh38] Chr17:7530263 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.65G>T (p.Arg22Leu) |
single nucleotide variant |
not specified [RCV004450245] |
Chr17:7627571 [GRCh38] Chr17:7530889 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.409G>A (p.Glu137Lys) |
single nucleotide variant |
not specified [RCV004450925] |
Chr17:7631215 [GRCh38] Chr17:7534533 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.1193C>A (p.Thr398Asn) |
single nucleotide variant |
not specified [RCV004450924] |
Chr17:7633336 [GRCh38] Chr17:7536654 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_133491.5(SAT2):c.310G>A (p.Gly104Arg) |
single nucleotide variant |
not specified [RCV004658506] |
Chr17:7626788 [GRCh38] Chr17:7530106 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.596G>C (p.Trp199Ser) |
single nucleotide variant |
not specified [RCV004667322] |
Chr17:7631629 [GRCh38] Chr17:7534947 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.10:g.(?_422368)_(8285628_?)dup |
duplication |
not provided [RCV004581443] |
Chr17:422368..8285628 [GRCh37] Chr17:17p13.3-13.1 |
uncertain significance |
NM_004860.4(FXR2):c.23G>C (p.Gly8Ala) |
single nucleotide variant |
not specified [RCV004618896] |
Chr17:7614510 [GRCh38] Chr17:7517828 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.518G>A (p.Gly173Glu) |
single nucleotide variant |
not specified [RCV004667324] |
Chr17:7631324 [GRCh38] Chr17:7534642 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.290T>C (p.Met97Thr) |
single nucleotide variant |
not specified [RCV004667321] |
Chr17:7630766 [GRCh38] Chr17:7534084 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.962C>G (p.Ser321Trp) |
single nucleotide variant |
not specified [RCV004667323] |
Chr17:7632861 [GRCh38] Chr17:7536179 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.554C>T (p.Pro185Leu) |
single nucleotide variant |
not provided [RCV004810831] |
Chr17:7631360 [GRCh38] Chr17:7534678 [GRCh37] Chr17:17p13.1 |
benign |
NM_001040.5(SHBG):c.682C>G (p.Pro228Ala) |
single nucleotide variant |
not specified [RCV004859553] |
Chr17:7631715 [GRCh38] Chr17:7535033 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.341C>T (p.Ala114Val) |
single nucleotide variant |
not specified [RCV004859555] |
Chr17:7630817 [GRCh38] Chr17:7534135 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.926A>C (p.Lys309Thr) |
single nucleotide variant |
not specified [RCV004859556] |
Chr17:7632825 [GRCh38] Chr17:7536143 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.578G>C (p.Cys193Ser) |
single nucleotide variant |
not specified [RCV004859554] |
Chr17:7631611 [GRCh38] Chr17:7534929 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_001040.5(SHBG):c.838C>T (p.His280Tyr) |
single nucleotide variant |
not specified [RCV004859557] |
Chr17:7632001 [GRCh38] Chr17:7535319 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_133491.5(SAT2):c.5C>T (p.Ala2Val) |
single nucleotide variant |
not specified [RCV004855952] |
Chr17:7627631 [GRCh38] Chr17:7530949 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.2-12(chr17:4678235-14745263)x3 |
copy number gain |
not provided [RCV004819316] |
Chr17:4678235..14745263 [GRCh37] Chr17:17p13.2-12 |
pathogenic |