| NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) |
single nucleotide variant |
not provided [RCV000521617] |
Chr6:116437310 [GRCh38]
Chr6:116758473 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000723332] |
Chr6:116436036 [GRCh38]
Chr6:116757199 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.803C>T (p.Ser268Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000074436] |
Chr6:116431086 [GRCh38]
Chr6:116752249 [GRCh37]
Chr6:6q22.1 |
pathogenic |
| GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 |
copy number loss |
See cases [RCV000051196] |
Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2 |
pathogenic |
| GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1 |
copy number loss |
See cases [RCV000052195] |
Chr6:115220054..117196371 [GRCh38]
Chr6:115541218..117517534 [GRCh37]
Chr6:115647911..117624227 [NCBI36]
Chr6:6q22.1 |
pathogenic |
| GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 |
copy number loss |
See cases [RCV000052196] |
Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33 |
pathogenic |
| GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3 |
copy number gain |
See cases [RCV000053368] |
Chr6:115890731..116427566 [GRCh38]
Chr6:116211895..116748729 [GRCh37]
Chr6:116318588..116855422 [NCBI36]
Chr6:6q22.1 |
uncertain significance |
| NM_001080976.1(DSE):c.1460C>T (p.Ser487Phe) |
single nucleotide variant |
Malignant melanoma [RCV000067082] |
Chr6:116435928 [GRCh38]
Chr6:116757091 [GRCh37]
Chr6:116863784 [NCBI36]
Chr6:6q22.1 |
not provided |
| GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 |
copy number loss |
See cases [RCV000135623] |
Chr6:115326962..117935240 [GRCh38]
Chr6:115648126..118256403 [GRCh37]
Chr6:115754819..118363096 [NCBI36]
Chr6:6q22.1-22.2 |
likely pathogenic |
| GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 |
copy number gain |
See cases [RCV000139729] |
Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1 |
pathogenic |
| GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 |
copy number loss |
See cases [RCV000139465] |
Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31 |
pathogenic |
| GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 |
copy number loss |
See cases [RCV000141587] |
Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31 |
pathogenic |
| GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 |
copy number loss |
See cases [RCV000143227] |
Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31 |
pathogenic |
| NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del |
deletion |
Dysmorphic features [RCV000157073] |
Chr6:112511752..118037595 [GRCh37]
Chr6:6q21-22.1 |
pathogenic |
| NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del |
deletion |
Delayed speech and language development [RCV000157076] |
Chr6:116735056..119687719 [GRCh37]
Chr6:6q22.1-22.31 |
pathogenic |
| NM_013352.4(DSE):c.1897G>A (p.Val633Met) |
single nucleotide variant |
not provided [RCV000522074] |
Chr6:116436365 [GRCh38]
Chr6:116757528 [GRCh37]
Chr6:6q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3 |
copy number gain |
not provided [RCV000487884] |
Chr6:114318401..116957002 [GRCh37]
Chr6:6q21-22.1 |
uncertain significance |
| NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) |
single nucleotide variant |
not provided [RCV000520971] |
Chr6:116436636 [GRCh38]
Chr6:116757799 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.2083G>A (p.Ala695Thr) |
single nucleotide variant |
not provided [RCV000520023] |
Chr6:116436551 [GRCh38]
Chr6:116757714 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.1926= (p.Asn642=) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000526647] |
Chr6:116436394 [GRCh38]
Chr6:116757557 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.1428G>A (p.Lys476=) |
single nucleotide variant |
not specified [RCV000606268] |
Chr6:116435896 [GRCh38]
Chr6:116757059 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.450G>A (p.Pro150=) |
single nucleotide variant |
not specified [RCV000601499] |
Chr6:116426607 [GRCh38]
Chr6:116747770 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.74_75delinsTT (p.Thr25Ile) |
indel |
not specified [RCV000605657] |
Chr6:116399324..116399325 [GRCh38]
Chr6:116720487..116720488 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2619_2621del (p.Gly874del) |
deletion |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000539080]|not specified [RCV000603318] |
Chr6:116437085..116437087 [GRCh38]
Chr6:116758248..116758250 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.844A>G (p.Ile282Val) |
single nucleotide variant |
not specified [RCV000441451] |
Chr6:116431127 [GRCh38]
Chr6:116752290 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.2661A>G (p.Thr887=) |
single nucleotide variant |
not specified [RCV000424133] |
Chr6:116437129 [GRCh38]
Chr6:116758292 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.711G>C (p.Leu237=) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000960492]|not provided [RCV001172175]|not specified [RCV000442323] |
Chr6:116430994 [GRCh38]
Chr6:116752157 [GRCh37]
Chr6:6q22.1 |
benign|likely benign |
| NM_013352.4(DSE):c.910+20G>A |
single nucleotide variant |
not specified [RCV000419161] |
Chr6:116431213 [GRCh38]
Chr6:116752376 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2547C>T (p.Pro849=) |
single nucleotide variant |
not specified [RCV000442892] |
Chr6:116437015 [GRCh38]
Chr6:116758178 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.74C>T (p.Thr25Ile) |
single nucleotide variant |
not specified [RCV000419462] |
Chr6:116399324 [GRCh38]
Chr6:116720487 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.101C>T (p.Pro34Leu) |
single nucleotide variant |
not specified [RCV000425605] |
Chr6:116399351 [GRCh38]
Chr6:116720514 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.495G>T (p.Leu165Phe) |
single nucleotide variant |
not provided [RCV000425933] |
Chr6:116426652 [GRCh38]
Chr6:116747815 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 |
copy number loss |
See cases [RCV000445666] |
Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31 |
pathogenic |
| NM_013352.4(DSE):c.53G>T (p.Cys18Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000946968]|not specified [RCV000426170] |
Chr6:116399303 [GRCh38]
Chr6:116720466 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.1004G>A (p.Arg335His) |
single nucleotide variant |
not provided [RCV000436673] |
Chr6:116433436 [GRCh38]
Chr6:116754599 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.1142T>C (p.Val381Ala) |
single nucleotide variant |
not specified [RCV000426390] |
Chr6:116435610 [GRCh38]
Chr6:116756773 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.359T>C (p.Ile120Thr) |
single nucleotide variant |
not specified [RCV000443982] |
Chr6:116399609 [GRCh38]
Chr6:116720772 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 |
copy number loss |
6q21-6q22.1 deletion [RCV000416567] |
Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31 |
likely pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_013352.4(DSE):c.1118+15G>A |
single nucleotide variant |
not specified [RCV000602992] |
Chr6:116433565 [GRCh38]
Chr6:116754728 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.799A>G (p.Arg267Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000515451] |
Chr6:116431082 [GRCh38]
Chr6:116752245 [GRCh37]
Chr6:6q22.1 |
pathogenic |
| NM_013352.4(DSE):c.516A>G (p.Thr172=) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000912322]|not specified [RCV000601617] |
Chr6:116426673 [GRCh38]
Chr6:116747836 [GRCh37]
Chr6:6q22.1 |
likely benign |
| GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 |
copy number loss |
PARP Inhibitor response [RCV000626432] |
Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2 |
drug response |
| NM_013352.4(DSE):c.483T>G (p.Ala161=) |
single nucleotide variant |
not specified [RCV000609405] |
Chr6:116426640 [GRCh38]
Chr6:116747803 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.1752G>C (p.Ala584=) |
single nucleotide variant |
not specified [RCV000612130] |
Chr6:116436220 [GRCh38]
Chr6:116757383 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.209G>A (p.Arg70His) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000957867]|not specified [RCV000600185] |
Chr6:116399459 [GRCh38]
Chr6:116720622 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.1271G>A (p.Gly424Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624169] |
Chr6:116435739 [GRCh38]
Chr6:116756902 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.2001A>G (p.Pro667=) |
single nucleotide variant |
not specified [RCV000612523] |
Chr6:116436469 [GRCh38]
Chr6:116757632 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2005A>G (p.Ile669Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000651850] |
Chr6:116436473 [GRCh38]
Chr6:116757636 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.-59G>T |
single nucleotide variant |
not specified [RCV000601901] |
Chr6:116371116 [GRCh38]
Chr6:116692279 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.416+13C>T |
single nucleotide variant |
not specified [RCV000607355] |
Chr6:116399679 [GRCh38]
Chr6:116720842 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2428C>G (p.Arg810Gly) |
single nucleotide variant |
not specified [RCV000602303] |
Chr6:116436896 [GRCh38]
Chr6:116758059 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.114C>T (p.Ala38=) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000973393]|not specified [RCV000607855] |
Chr6:116399364 [GRCh38]
Chr6:116720527 [GRCh37]
Chr6:6q22.1 |
benign|likely benign |
| NM_013352.4(DSE):c.240C>T (p.Ser80=) |
single nucleotide variant |
not specified [RCV000610571] |
Chr6:116399490 [GRCh38]
Chr6:116720653 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.1221T>A (p.Pro407=) |
single nucleotide variant |
not provided [RCV000931372]|not specified [RCV000613605] |
Chr6:116435689 [GRCh38]
Chr6:116756852 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.1827G>A (p.Gln609=) |
single nucleotide variant |
not specified [RCV000608325] |
Chr6:116436295 [GRCh38]
Chr6:116757458 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2601C>T (p.Tyr867=) |
single nucleotide variant |
not provided [RCV000908391]|not specified [RCV000608370] |
Chr6:116437069 [GRCh38]
Chr6:116758232 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2727T>C (p.Ile909=) |
single nucleotide variant |
not specified [RCV000611675] |
Chr6:116437195 [GRCh38]
Chr6:116758358 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.911-15A>G |
single nucleotide variant |
not specified [RCV000614644] |
Chr6:116433328 [GRCh38]
Chr6:116754491 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.136C>T (p.Leu46=) |
single nucleotide variant |
not specified [RCV000614868] |
Chr6:116399386 [GRCh38]
Chr6:116720549 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.1841A>G (p.Tyr614Cys) |
single nucleotide variant |
not provided [RCV000512750] |
Chr6:116436309 [GRCh38]
Chr6:116757472 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.1499G>A (p.Gly500Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV000622470] |
Chr6:116435967 [GRCh38]
Chr6:116757130 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.1613G>A (p.Arg538Gln) |
single nucleotide variant |
not provided [RCV000513294] |
Chr6:116436081 [GRCh38]
Chr6:116757244 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 |
copy number loss |
not provided [RCV000682693] |
Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1 |
pathogenic |
| GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1 |
copy number loss |
not provided [RCV000682711] |
Chr6:113261042..117842826 [GRCh37]
Chr6:6q21-22.1 |
pathogenic |
| GRCh37/hg19 6q22.1(chr6:116656963-116903944)x3 |
copy number gain |
not provided [RCV000682713] |
Chr6:116656963..116903944 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6q22.1(chr6:116601285-117057982)x3 |
copy number gain |
not provided [RCV000745999] |
Chr6:116601285..117057982 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.730C>T (p.Leu244=) |
single nucleotide variant |
not provided [RCV000977559] |
Chr6:116431013 [GRCh38]
Chr6:116752176 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) |
single nucleotide variant |
not provided [RCV000762432] |
Chr6:116399285 [GRCh38]
Chr6:116720448 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.1927G>A (p.Gly643Arg) |
single nucleotide variant |
not provided [RCV000762433] |
Chr6:116436395 [GRCh38]
Chr6:116757558 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.885A>C (p.Ala295=) |
single nucleotide variant |
not provided [RCV000919858] |
Chr6:116431168 [GRCh38]
Chr6:116752331 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2058C>T (p.Phe686=) |
single nucleotide variant |
not provided [RCV000903898] |
Chr6:116436526 [GRCh38]
Chr6:116757689 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.753G>A (p.Thr251=) |
single nucleotide variant |
not provided [RCV000904651] |
Chr6:116431036 [GRCh38]
Chr6:116752199 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_003309.4(TSPYL1):c.1269G>A (p.Arg423=) |
single nucleotide variant |
not provided [RCV000922417] |
Chr6:116278562 [GRCh38]
Chr6:116599725 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2635C>G (p.Arg879Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV001057996] |
Chr6:116437103 [GRCh38]
Chr6:116758266 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV001078769]|not provided [RCV000827035] |
Chr6:116437119 [GRCh38]
Chr6:116758282 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000914958] |
Chr6:116436429 [GRCh38]
Chr6:116757592 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2334G>T (p.Leu778=) |
single nucleotide variant |
not provided [RCV000841720] |
Chr6:116436802 [GRCh38]
Chr6:116757965 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2370T>C (p.Ile790=) |
single nucleotide variant |
not provided [RCV000840191] |
Chr6:116436838 [GRCh38]
Chr6:116758001 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.-53-232T>A |
single nucleotide variant |
not provided [RCV000843633] |
Chr6:116398966 [GRCh38]
Chr6:116720129 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_003309.4(TSPYL1):c.723_724TG[1] (p.Val242fs) |
microsatellite |
Sudden infant death with dysgenesis of the testes syndrome [RCV000993688] |
Chr6:116279105..116279106 [GRCh38]
Chr6:116600268..116600269 [GRCh37]
Chr6:6q22.1 |
pathogenic|likely pathogenic |
| NM_013352.4(DSE):c.355A>C (p.Asn119His) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000796415] |
Chr6:116399605 [GRCh38]
Chr6:116720768 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.216G>A (p.Thr72=) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV001087018]|not provided [RCV000827034] |
Chr6:116399466 [GRCh38]
Chr6:116720629 [GRCh37]
Chr6:6q22.1 |
benign|likely benign |
| NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000809603] |
Chr6:116435693 [GRCh38]
Chr6:116756856 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.-53-4G>A |
single nucleotide variant |
not provided [RCV000828043] |
Chr6:116399194 [GRCh38]
Chr6:116720357 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.417-15T>G |
single nucleotide variant |
not provided [RCV000841341] |
Chr6:116426559 [GRCh38]
Chr6:116747722 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2082C>T (p.Tyr694=) |
single nucleotide variant |
not provided [RCV000827289] |
Chr6:116436550 [GRCh38]
Chr6:116757713 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.911-50G>T |
single nucleotide variant |
not provided [RCV000837687] |
Chr6:116433293 [GRCh38]
Chr6:116754456 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_003309.4(TSPYL1):c.354C>T (p.Asp118=) |
single nucleotide variant |
not provided [RCV000920000] |
Chr6:116279477 [GRCh38]
Chr6:116600640 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.693A>G (p.Leu231=) |
single nucleotide variant |
not provided [RCV000941120] |
Chr6:116430976 [GRCh38]
Chr6:116752139 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.911-229G>A |
single nucleotide variant |
not provided [RCV000838182] |
Chr6:116433114 [GRCh38]
Chr6:116754277 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.-53-89A>G |
single nucleotide variant |
not provided [RCV000838731] |
Chr6:116399109 [GRCh38]
Chr6:116720272 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.1284T>C (p.Tyr428=) |
single nucleotide variant |
not provided [RCV000842336] |
Chr6:116435752 [GRCh38]
Chr6:116756915 [GRCh37]
Chr6:6q22.1 |
likely benign |
| GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 |
copy number loss |
not provided [RCV000848701] |
Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31 |
pathogenic |
| NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) |
single nucleotide variant |
not provided [RCV000929701] |
Chr6:116435849 [GRCh38]
Chr6:116757012 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.831G>A (p.Gln277=) |
single nucleotide variant |
not provided [RCV000975395] |
Chr6:116431114 [GRCh38]
Chr6:116752277 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_003309.4(TSPYL1):c.1135A>G (p.Thr379Ala) |
single nucleotide variant |
not provided [RCV000952908] |
Chr6:116278696 [GRCh38]
Chr6:116599859 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_003309.4(TSPYL1):c.99C>T (p.Tyr33=) |
single nucleotide variant |
not provided [RCV000974414] |
Chr6:116279732 [GRCh38]
Chr6:116600895 [GRCh37]
Chr6:6q22.1 |
benign |
| NM_013352.4(DSE):c.2298C>T (p.Asn766=) |
single nucleotide variant |
not provided [RCV000917983] |
Chr6:116436766 [GRCh38]
Chr6:116757929 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_003309.4(TSPYL1):c.256G>A (p.Val86Ile) |
single nucleotide variant |
not provided [RCV000908171] |
Chr6:116279575 [GRCh38]
Chr6:116600738 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2580A>G (p.Leu860=) |
single nucleotide variant |
not provided [RCV000902505] |
Chr6:116437048 [GRCh38]
Chr6:116758211 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.78C>T (p.Asp26=) |
single nucleotide variant |
not provided [RCV000909648] |
Chr6:116399328 [GRCh38]
Chr6:116720491 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_003309.4(TSPYL1):c.1098C>A (p.Phe366Leu) |
single nucleotide variant |
not provided [RCV000891397] |
Chr6:116278733 [GRCh38]
Chr6:116599896 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.120C>T (p.Tyr40=) |
single nucleotide variant |
not provided [RCV000913771] |
Chr6:116399370 [GRCh38]
Chr6:116720533 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.2120C>G (p.Ser707Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000956406] |
Chr6:116436588 [GRCh38]
Chr6:116757751 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.558G>T (p.Gly186=) |
single nucleotide variant |
not provided [RCV000912627] |
Chr6:116426715 [GRCh38]
Chr6:116747878 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_013352.4(DSE):c.330A>C (p.Ala110=) |
single nucleotide variant |
not provided [RCV000933725] |
Chr6:116399580 [GRCh38]
Chr6:116720743 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NM_003309.4(TSPYL1):c.280A>G (p.Ile94Val) |
single nucleotide variant |
not provided [RCV000912394] |
Chr6:116279551 [GRCh38]
Chr6:116600714 [GRCh37]
Chr6:6q22.1 |
likely benign |
| GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 |
copy number gain |
Microcephaly [RCV001251053] |
Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1 |
pathogenic |
| NM_013352.4(DSE):c.29G>A (p.Ser10Asn) |
single nucleotide variant |
not provided [RCV001172174] |
Chr6:116399279 [GRCh38]
Chr6:116720442 [GRCh37]
Chr6:6q22.1 |
uncertain significance |
| NM_013352.4(DSE):c.936G>A (p.Ala312=) |
single nucleotide variant |
not provided [RCV001200481] |
Chr6:116433368 [GRCh38]
Chr6:116754531 [GRCh37]
Chr6:6q22.1 |
likely benign |
| NC_000006.11:g.116734559_123648104del |
deletion |
Seizures [RCV001256147] |
Chr6:116734559..123648104 [GRCh37]
Chr6:6q22.1-22.31 |
pathogenic |
| NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer) |
deletion |
Inborn genetic diseases [RCV001267004] |
Chr6:116399637 [GRCh38]
Chr6:116720800 [GRCh37]
Chr6:6q22.1 |
pathogenic |
| NM_003309.4(TSPYL1):c.236del (p.Gly79fs) |
deletion |
Sudden infant death with dysgenesis of the testes syndrome [RCV001270429] |
Chr6:116279595 [GRCh38]
Chr6:116600758 [GRCh37]
Chr6:6q22.1 |
likely pathogenic |
