GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480] |
Chr3:8581778..12015238 [GRCh38] Chr3:8623464..12056738 [GRCh37] Chr3:8598464..12031738 [NCBI36] Chr3:3p25.3-25.2 |
pathogenic |
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 |
copy number loss |
See cases [RCV000051506] |
Chr3:10019780..12251358 [GRCh38] Chr3:10061464..12292857 [GRCh37] Chr3:10036464..12267857 [NCBI36] Chr3:3p25.3-25.2 |
pathogenic |
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 |
copy number gain |
See cases [RCV000051097] |
Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2 |
pathogenic |
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 |
copy number gain |
See cases [RCV000051690] |
Chr3:52066..20280127 [GRCh38] Chr3:93749..20321619 [GRCh37] Chr3:68749..20296623 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] |
Chr3:52266..29248782 [GRCh38] Chr3:93949..29290273 [GRCh37] Chr3:68949..29265277 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 |
copy number gain |
See cases [RCV000051719] |
Chr3:63843..19510600 [GRCh38] Chr3:105526..19552092 [GRCh37] Chr3:80526..19527096 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 |
copy number gain |
See cases [RCV000051720] |
Chr3:11463328..38919543 [GRCh38] Chr3:11504802..38961034 [GRCh37] Chr3:11479802..38936038 [NCBI36] Chr3:3p25.3-22.2 |
pathogenic |
NM_001136031.2(ATG7):c.1285-5184G>C |
single nucleotide variant |
Lung cancer [RCV000092725] |
Chr3:11353234 [GRCh38] Chr3:11394708 [GRCh37] Chr3:3p25.3 |
uncertain significance |
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 |
copy number loss |
See cases [RCV000137433] |
Chr3:9394874..11690612 [GRCh38] Chr3:9436558..11732086 [GRCh37] Chr3:9411558..11707086 [NCBI36] Chr3:3p25.3-25.2 |
pathogenic |
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 |
copy number gain |
See cases [RCV000137309] |
Chr3:7975734..12636917 [GRCh38] Chr3:8017421..12678416 [GRCh37] Chr3:7992421..12653416 [NCBI36] Chr3:3p26.1-25.2 |
likely pathogenic |
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 |
copy number loss |
See cases [RCV000138143] |
Chr3:32241..12681483 [GRCh38] Chr3:73914..12722982 [GRCh37] Chr3:48914..12697982 [NCBI36] Chr3:3p26.3-25.2 |
pathogenic |
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 |
copy number gain |
See cases [RCV000138004] |
Chr3:32241..30064208 [GRCh38] Chr3:73914..30105699 [GRCh37] Chr3:48914..30080703 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 |
copy number gain |
See cases [RCV000137941] |
Chr3:32241..20334387 [GRCh38] Chr3:73914..20375879 [GRCh37] Chr3:48914..20350883 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 |
copy number loss |
See cases [RCV000138376] |
Chr3:32241..11379835 [GRCh38] Chr3:73914..11421309 [GRCh37] Chr3:48914..11396309 [NCBI36] Chr3:3p26.3-25.3 |
pathogenic|likely benign |
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 |
copy number gain |
See cases [RCV000138946] |
Chr3:32241..13613818 [GRCh38] Chr3:73914..13655318 [GRCh37] Chr3:48914..13630319 [NCBI36] Chr3:3p26.3-25.1 |
pathogenic |
GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1 |
copy number loss |
See cases [RCV000139842] |
Chr3:11377628..11541810 [GRCh38] Chr3:11419102..11583284 [GRCh37] Chr3:11394102..11558284 [NCBI36] Chr3:3p25.3 |
uncertain significance |
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 |
copy number gain |
See cases [RCV000141810] |
Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1 |
pathogenic |
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 |
copy number gain |
See cases [RCV000143766] |
Chr3:7356110..14360442 [GRCh38] Chr3:7397797..14401942 [GRCh37] Chr3:7372797..14376946 [NCBI36] Chr3:3p26.1-25.1 |
pathogenic |
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1 |
copy number loss |
See cases [RCV000240139] |
Chr3:8922160..12338637 [GRCh37] Chr3:3p25.3-25.2 |
pathogenic |
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 |
copy number gain |
See cases [RCV000447247] |
Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 |
copy number gain |
See cases [RCV000448528] |
Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 |
copy number gain |
See cases [RCV000510429] |
Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 |
copy number gain |
See cases [RCV000511463] |
Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 |
copy number loss |
See cases [RCV000511155] |
Chr3:61891..12575409 [GRCh37] Chr3:3p26.3-25.2 |
pathogenic |
NM_001349232.2(ATG7):c.102G>T (p.Lys34Asn) |
single nucleotide variant |
not specified [RCV004296579] |
Chr3:11298797 [GRCh38] Chr3:11340271 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1456G>A (p.Val486Ile) |
single nucleotide variant |
not specified [RCV004284056] |
Chr3:11358589 [GRCh38] Chr3:11400063 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1400G>C (p.Ser467Thr) |
single nucleotide variant |
not specified [RCV004319898] |
Chr3:11358533 [GRCh38] Chr3:11400007 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.357G>A (p.Met119Ile) |
single nucleotide variant |
not specified [RCV004308083] |
Chr3:11564935 [GRCh38] Chr3:11606409 [GRCh37] Chr3:3p25.3 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 |
copy number gain |
not provided [RCV000682215] |
Chr3:1897972..19519085 [GRCh37] Chr3:3p26.3-24.3 |
pathogenic |
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 |
copy number gain |
not provided [RCV000682233] |
Chr3:5173870..16760262 [GRCh37] Chr3:3p26.1-24.3 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p25.3(chr3:11410571-11420693)x1 |
copy number loss |
not provided [RCV000742233] |
Chr3:11410571..11420693 [GRCh37] Chr3:3p25.3 |
benign |
GRCh37/hg19 3p25.3-25.2(chr3:11568144-11801890)x3 |
copy number gain |
not provided [RCV000742234] |
Chr3:11568144..11801890 [GRCh37] Chr3:3p25.3-25.2 |
benign |
NM_001349232.2(ATG7):c.712G>A (p.Ala238Thr) |
single nucleotide variant |
not specified [RCV004303539] |
Chr3:11331373 [GRCh38] Chr3:11372847 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.873A>G (p.Glu291=) |
single nucleotide variant |
not provided [RCV000900913] |
Chr3:11333077 [GRCh38] Chr3:11374551 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.890-8G>T |
single nucleotide variant |
not provided [RCV000950652] |
Chr3:11340637 [GRCh38] Chr3:11382111 [GRCh37] Chr3:3p25.3 |
benign |
NM_001349232.2(ATG7):c.976A>C (p.Lys326Gln) |
single nucleotide variant |
not provided [RCV000910270] |
Chr3:11340731 [GRCh38] Chr3:11382205 [GRCh37] Chr3:3p25.3 |
benign |
NM_001349232.2(ATG7):c.1827C>T (p.Asp609=) |
single nucleotide variant |
not provided [RCV000930672] |
Chr3:11364686 [GRCh38] Chr3:11406160 [GRCh37] Chr3:3p25.3 |
benign |
Single allele |
duplication |
Neurodevelopmental disorder [RCV000787461] |
Chr3:9453917..12015126 [GRCh37] Chr3:3p25.3-25.2 |
uncertain significance |
NM_001349232.2(ATG7):c.1278C>T (p.Pro426=) |
single nucleotide variant |
not provided [RCV000897787] |
Chr3:11348029 [GRCh38] Chr3:11389503 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.14C>T (p.Thr5Met) |
single nucleotide variant |
not specified [RCV004284006] |
Chr3:11298709 [GRCh38] Chr3:11340183 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.1727G>A (p.Arg576His) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV001533545] |
Chr3:11362856 [GRCh38] Chr3:11404330 [GRCh37] Chr3:3p25.3 |
pathogenic |
NM_001349232.2(ATG7):c.1588G>A (p.Ala530Thr) |
single nucleotide variant |
ATG7-related disorder [RCV003910748]|not provided [RCV000900928] |
Chr3:11360689 [GRCh38] Chr3:11402163 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.759C>T (p.Ala253=) |
single nucleotide variant |
not provided [RCV000907963] |
Chr3:11331420 [GRCh38] Chr3:11372894 [GRCh37] Chr3:3p25.3 |
benign |
NM_001349232.2(ATG7):c.890-7C>T |
single nucleotide variant |
not provided [RCV000950653] |
Chr3:11340638 [GRCh38] Chr3:11382112 [GRCh37] Chr3:3p25.3 |
benign |
NM_001349232.2(ATG7):c.514T>C (p.Phe172Leu) |
single nucleotide variant |
not specified [RCV004317198] |
Chr3:11313406 [GRCh38] Chr3:11354880 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV001533546] |
Chr3:11364729 [GRCh38] Chr3:11406203 [GRCh37] Chr3:3p25.3 |
pathogenic |
NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV001533547] |
Chr3:11332986 [GRCh38] Chr3:11374460 [GRCh37] Chr3:3p25.3 |
pathogenic |
NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe) |
single nucleotide variant |
Premature ovarian failure [RCV001270192] |
Chr3:11348012 [GRCh38] Chr3:11389486 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV001533548] |
Chr3:11360633 [GRCh38] Chr3:11402107 [GRCh37] Chr3:3p25.3 |
pathogenic |
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV001533549] |
Chr3:11360636 [GRCh38] Chr3:11402110 [GRCh37] Chr3:3p25.3 |
pathogenic|uncertain significance |
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV001533550] |
Chr3:11426822 [GRCh38] Chr3:11468296 [GRCh37] Chr3:3p25.3 |
pathogenic |
NM_001349232.2(ATG7):c.2080-2A>G |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV001533551] |
Chr3:11554809 [GRCh38] Chr3:11596283 [GRCh37] Chr3:3p25.3 |
pathogenic |
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) |
copy number gain |
not specified [RCV002053299] |
Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) |
copy number gain |
not specified [RCV002053300] |
Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1 |
copy number loss |
Schizophrenia [RCV001825255] |
Chr3:10970972..12295919 [GRCh37] Chr3:3p25.3-25.2 |
not provided |
GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1 |
copy number loss |
not provided [RCV001827612] |
Chr3:10922740..12456978 [GRCh37] Chr3:3p25.3-25.2 |
pathogenic |
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) |
single nucleotide variant |
NAFLD1 [RCV002223149]|Spinocerebellar ataxia, autosomal recessive 31 [RCV003227532] |
Chr3:11358545 [GRCh38] Chr3:11400019 [GRCh37] Chr3:3p25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001349232.2(ATG7):c.1277C>T (p.Pro426Leu) |
single nucleotide variant |
NAFLD1 [RCV002223150]|not provided [RCV003434453] |
Chr3:11348028 [GRCh38] Chr3:11389502 [GRCh37] Chr3:3p25.3 |
pathogenic|likely benign |
NM_001128219.3(VGLL4):c.629C>A (p.Thr210Asn) |
single nucleotide variant |
not specified [RCV004688622] |
Chr3:11558818 [GRCh38] Chr3:11600292 [GRCh37] Chr3:3p25.3 |
uncertain significance |
GRCh37/hg19 3p25.3(chr3:11363030-11670349)x3 |
copy number gain |
not provided [RCV002472594] |
Chr3:11363030..11670349 [GRCh37] Chr3:3p25.3 |
uncertain significance |
GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1 |
copy number loss |
not provided [RCV002472495] |
Chr3:10024917..11917048 [GRCh37] Chr3:3p25.3-25.2 |
pathogenic |
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1 |
copy number loss |
not provided [RCV002473616] |
Chr3:61892..11679509 [GRCh37] Chr3:3p26.3-25.3 |
pathogenic |
NM_001128219.3(VGLL4):c.524C>T (p.Ser175Leu) |
single nucleotide variant |
not specified [RCV004201820] |
Chr3:11559427 [GRCh38] Chr3:11600901 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.449A>G (p.Tyr150Cys) |
single nucleotide variant |
not specified [RCV004198857] |
Chr3:11313341 [GRCh38] Chr3:11354815 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1774G>A (p.Val592Ile) |
single nucleotide variant |
not specified [RCV004186056] |
Chr3:11362903 [GRCh38] Chr3:11404377 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.184C>T (p.Arg62Cys) |
single nucleotide variant |
not specified [RCV004218371] |
Chr3:11299385 [GRCh38] Chr3:11340859 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1364G>A (p.Arg455His) |
single nucleotide variant |
not specified [RCV004237780] |
Chr3:11358497 [GRCh38] Chr3:11399971 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1090G>A (p.Gly364Ser) |
single nucleotide variant |
not specified [RCV004183880] |
Chr3:11342244 [GRCh38] Chr3:11383718 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1289C>T (p.Ala430Val) |
single nucleotide variant |
not specified [RCV004236794] |
Chr3:11358422 [GRCh38] Chr3:11399896 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.655T>A (p.Phe219Ile) |
single nucleotide variant |
not specified [RCV004115460] |
Chr3:11315470 [GRCh38] Chr3:11356944 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.452C>T (p.Pro151Leu) |
single nucleotide variant |
not specified [RCV004200089] |
Chr3:11564840 [GRCh38] Chr3:11606314 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.227C>T (p.Thr76Ile) |
single nucleotide variant |
not specified [RCV004132323] |
Chr3:11306954 [GRCh38] Chr3:11348428 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1253C>T (p.Ala418Val) |
single nucleotide variant |
not specified [RCV004236543] |
Chr3:11348004 [GRCh38] Chr3:11389478 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1223G>T (p.Gly408Val) |
single nucleotide variant |
not specified [RCV004172016] |
Chr3:11347974 [GRCh38] Chr3:11389448 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.322C>T (p.Arg108Cys) |
single nucleotide variant |
not specified [RCV004197596] |
Chr3:11564970 [GRCh38] Chr3:11606444 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1566C>G (p.Asp522Glu) |
single nucleotide variant |
not specified [RCV004148282] |
Chr3:11360667 [GRCh38] Chr3:11402141 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.442G>A (p.Ala148Thr) |
single nucleotide variant |
not specified [RCV004144483] |
Chr3:11564850 [GRCh38] Chr3:11606324 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1976G>A (p.Arg659Gln) |
single nucleotide variant |
not specified [RCV004201387] |
Chr3:11426823 [GRCh38] Chr3:11468297 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1363C>T (p.Arg455Cys) |
single nucleotide variant |
not specified [RCV004242483] |
Chr3:11358496 [GRCh38] Chr3:11399970 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.224C>A (p.Pro75His) |
single nucleotide variant |
not specified [RCV004179468] |
Chr3:11306951 [GRCh38] Chr3:11348425 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1661A>G (p.Asn554Ser) |
single nucleotide variant |
not specified [RCV004147979] |
Chr3:11360762 [GRCh38] Chr3:11402236 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1625A>G (p.Asn542Ser) |
single nucleotide variant |
not specified [RCV004090508] |
Chr3:11360726 [GRCh38] Chr3:11402200 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1343G>A (p.Ser448Asn) |
single nucleotide variant |
not specified [RCV004167722] |
Chr3:11358476 [GRCh38] Chr3:11399950 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.83A>T (p.His28Leu) |
single nucleotide variant |
not specified [RCV004116135] |
Chr3:11298778 [GRCh38] Chr3:11340252 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1226G>A (p.Gly409Asp) |
single nucleotide variant |
not specified [RCV004105187] |
Chr3:11347977 [GRCh38] Chr3:11389451 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.886C>G (p.Pro296Ala) |
single nucleotide variant |
not specified [RCV004176394] |
Chr3:11333090 [GRCh38] Chr3:11374564 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1301A>G (p.Asn434Ser) |
single nucleotide variant |
not specified [RCV004136629] |
Chr3:11358434 [GRCh38] Chr3:11399908 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.383C>T (p.Thr128Ile) |
single nucleotide variant |
not specified [RCV004131609] |
Chr3:11564909 [GRCh38] Chr3:11606383 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.337C>T (p.Arg113Cys) |
single nucleotide variant |
not specified [RCV004260525] |
Chr3:11564955 [GRCh38] Chr3:11606429 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.310C>T (p.Arg104Trp) |
single nucleotide variant |
not specified [RCV004249461] |
Chr3:11564982 [GRCh38] Chr3:11606456 [GRCh37] Chr3:3p25.3 |
uncertain significance |
GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1 |
copy number loss |
See cases [RCV003329496] |
Chr3:10167260..12533766 [GRCh37] Chr3:3p25.3-25.2 |
pathogenic |
NM_001128219.3(VGLL4):c.605G>A (p.Arg202Gln) |
single nucleotide variant |
not specified [RCV004340919] |
Chr3:11559346 [GRCh38] Chr3:11600820 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1043T>C (p.Leu348Ser) |
single nucleotide variant |
not specified [RCV004354196] |
Chr3:11342197 [GRCh38] Chr3:11383671 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.685A>G (p.Ile229Val) |
single nucleotide variant |
not specified [RCV004336626] |
Chr3:11331346 [GRCh38] Chr3:11372820 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.1480C>T (p.Leu494=) |
single nucleotide variant |
not specified [RCV004351916] |
Chr3:11360581 [GRCh38] Chr3:11402055 [GRCh37] Chr3:3p25.3 |
likely benign |
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 |
copy number gain |
not provided [RCV003484107] |
Chr3:310747..28297447 [GRCh37] Chr3:3p26.3-24.1 |
pathogenic |
NC_000003.12:g.11272071G>A |
single nucleotide variant |
not provided [RCV003457370] |
Chr3:11272071 [GRCh38] Chr3:11313757 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NC_000003.12:g.11271763G>A |
single nucleotide variant |
not provided [RCV003433443] |
Chr3:11271763 [GRCh38] Chr3:11313449 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.519A>G (p.Ser173=) |
single nucleotide variant |
not provided [RCV003433444] |
Chr3:11313411 [GRCh38] Chr3:11354885 [GRCh37] Chr3:3p25.3 |
likely benign |
GRCh37/hg19 3p25.3(chr3:11423303-11568144)x1 |
copy number loss |
not specified [RCV003986468] |
Chr3:11423303..11568144 [GRCh37] Chr3:3p25.3 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 |
copy number gain |
not specified [RCV003986437] |
Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1 |
copy number loss |
not specified [RCV003986402] |
Chr3:6306331..11468530 [GRCh37] Chr3:3p26.1-25.3 |
pathogenic |
NM_001349232.2(ATG7):c.1478A>G (p.Lys493Arg) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV003993586] |
Chr3:11358611 [GRCh38] Chr3:11400085 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1147A>C (p.Thr383Pro) |
single nucleotide variant |
not specified [RCV004425398] |
Chr3:11347898 [GRCh38] Chr3:11389372 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1259G>A (p.Arg420Gln) |
single nucleotide variant |
not specified [RCV004425401] |
Chr3:11348010 [GRCh38] Chr3:11389484 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1978G>A (p.Glu660Lys) |
single nucleotide variant |
not specified [RCV004425402] |
Chr3:11426825 [GRCh38] Chr3:11468299 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.201C>G (p.Phe67Leu) |
single nucleotide variant |
not specified [RCV004425403] |
Chr3:11299402 [GRCh38] Chr3:11340876 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.2091G>C (p.Met697Ile) |
single nucleotide variant |
not specified [RCV004425404] |
Chr3:11554822 [GRCh38] Chr3:11596296 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.491G>A (p.Gly164Glu) |
single nucleotide variant |
not specified [RCV004425406] |
Chr3:11313383 [GRCh38] Chr3:11354857 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.785C>G (p.Ser262Cys) |
single nucleotide variant |
not specified [RCV004425408] |
Chr3:11332989 [GRCh38] Chr3:11374463 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1186G>A (p.Val396Met) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV004515789] |
Chr3:11347937 [GRCh38] Chr3:11389411 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1532G>C (p.Gly511Ala) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV003991648] |
Chr3:11360633 [GRCh38] Chr3:11402107 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.233C>T (p.Ala78Val) |
single nucleotide variant |
not specified [RCV004425405] |
Chr3:11306960 [GRCh38] Chr3:11348434 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1172C>T (p.Ser391Phe) |
single nucleotide variant |
not specified [RCV004425399] |
Chr3:11347923 [GRCh38] Chr3:11389397 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.1223G>C (p.Gly408Ala) |
single nucleotide variant |
not specified [RCV004425400] |
Chr3:11347974 [GRCh38] Chr3:11389448 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.1127G>A (p.Gly376Asp) |
single nucleotide variant |
not specified [RCV004425397] |
Chr3:11347878 [GRCh38] Chr3:11389352 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.806G>A (p.Arg269His) |
single nucleotide variant |
not specified [RCV004425409] |
Chr3:11333010 [GRCh38] Chr3:11374484 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.899A>T (p.Lys300Ile) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV003990480] |
Chr3:11340654 [GRCh38] Chr3:11382128 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.441C>T (p.Asp147=) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004558043] |
Chr3:11564851 [GRCh38] Chr3:11606325 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001128219.3(VGLL4):c.367G>A (p.Gly123Ser) |
single nucleotide variant |
not specified [RCV004482412] |
Chr3:11564925 [GRCh38] Chr3:11606399 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.382A>G (p.Thr128Ala) |
single nucleotide variant |
not specified [RCV004482413] |
Chr3:11564910 [GRCh38] Chr3:11606384 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001128219.3(VGLL4):c.424A>G (p.Thr142Ala) |
single nucleotide variant |
not specified [RCV004482414] |
Chr3:11564868 [GRCh38] Chr3:11606342 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.464C>T (p.Ser155Leu) |
single nucleotide variant |
not specified [RCV004482416] |
Chr3:11564828 [GRCh38] Chr3:11606302 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.589G>A (p.Gly197Arg) |
single nucleotide variant |
not specified [RCV004482418] |
Chr3:11559362 [GRCh38] Chr3:11600836 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.298C>T (p.Arg100Cys) |
single nucleotide variant |
not specified [RCV004482411] |
Chr3:11564994 [GRCh38] Chr3:11606468 [GRCh37] Chr3:3p25.3 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 |
copy number gain |
not provided [RCV004577500] |
Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_001128219.3(VGLL4):c.457G>C (p.Gly153Arg) |
single nucleotide variant |
not specified [RCV004482415] |
Chr3:11564835 [GRCh38] Chr3:11606309 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.691G>A (p.Glu231Lys) |
single nucleotide variant |
not specified [RCV004482419] |
Chr3:11558756 [GRCh38] Chr3:11600230 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.820C>T (p.Arg274Cys) |
single nucleotide variant |
not specified [RCV004482420] |
Chr3:11558627 [GRCh38] Chr3:11600101 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001128219.3(VGLL4):c.855G>C (p.Met285Ile) |
single nucleotide variant |
not specified [RCV004482421] |
Chr3:11558592 [GRCh38] Chr3:11600066 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.809A>C (p.Asp270Ala) |
single nucleotide variant |
not specified [RCV004670494] |
Chr3:11333013 [GRCh38] Chr3:11374487 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.31T>A (p.Ser11Thr) |
single nucleotide variant |
not specified [RCV004670501] |
Chr3:11298726 [GRCh38] Chr3:11340200 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.356G>C (p.Gly119Ala) |
single nucleotide variant |
not specified [RCV004679168] |
Chr3:11309006 [GRCh38] Chr3:11350480 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.103C>G (p.Leu35Val) |
single nucleotide variant |
not specified [RCV004679173] |
Chr3:11298798 [GRCh38] Chr3:11340272 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.895C>G (p.Pro299Ala) |
single nucleotide variant |
not specified [RCV004670474] |
Chr3:11340650 [GRCh38] Chr3:11382124 [GRCh37] Chr3:3p25.3 |
uncertain significance |
NM_001349232.2(ATG7):c.333+8G>C |
single nucleotide variant |
ATG7-related disorder [RCV004730549] |
Chr3:11307068 [GRCh38] Chr3:11348542 [GRCh37] Chr3:3p25.3 |
likely benign |
NM_001349232.2(ATG7):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
Spinocerebellar ataxia, autosomal recessive 31 [RCV004764755] |
Chr3:11307007 [GRCh38] Chr3:11348481 [GRCh37] Chr3:3p25.3 |
uncertain significance |