NM_001909.5(CTSD):c.306C>T (p.Asn102=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000549337] |
Chr11:1759562 [GRCh38] Chr11:1780792 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.353-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000527734] |
Chr11:1759095 [GRCh38] Chr11:1780325 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.131A>T (p.Glu44Val) |
single nucleotide variant |
not provided [RCV000520113] |
Chr11:1761406 [GRCh38] Chr11:1782636 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000019134] |
Chr11:1757343 [GRCh38] Chr11:1778573 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000019135] |
Chr11:1753593 [GRCh38] Chr11:1774823 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) |
duplication |
Neuronal ceroid lipofuscinosis 10 [RCV000019136] |
Chr11:1754968..1754969 [GRCh38] Chr11:1776198..1776199 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.4:c.486-12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000087099] |
Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.924G>A (p.Val308=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002060283]|not provided [RCV000521730] |
Chr11:1754042 [GRCh38] Chr11:1775272 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000543988] |
Chr11:1761338 [GRCh38] Chr11:1782568 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV002476111]|Neuronal ceroid lipofuscinosis [RCV000548431] |
Chr11:1757462 [GRCh38] Chr11:1778692 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001853677]|not provided [RCV000521394] |
Chr11:1761402 [GRCh38] Chr11:1782632 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002336243]|Neuronal ceroid lipofuscinosis 10 [RCV000087098]|Neuronal ceroid lipofuscinosis [RCV000804177]|not specified [RCV003330432] |
Chr11:1758970 [GRCh38] Chr11:1780200 [GRCh37] Chr11:11p15.5 |
pathogenic|uncertain significance |
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 |
copy number gain |
See cases [RCV000050947] |
Chr11:196966..3377077 [GRCh38] Chr11:196966..3398307 [GRCh37] Chr11:186966..3354883 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 |
copy number gain |
See cases [RCV000050927] |
Chr11:196966..4435344 [GRCh38] Chr11:196966..4456574 [GRCh37] Chr11:186966..4413150 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 |
copy number loss |
See cases [RCV000052645] |
Chr11:758848..1998025 [GRCh38] Chr11:758848..2019255 [GRCh37] Chr11:748848..1975831 [NCBI36] Chr11:11p15.5 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 |
copy number gain |
See cases [RCV000053614] |
Chr11:218365..3377077 [GRCh38] Chr11:218365..3398307 [GRCh37] Chr11:208365..3354883 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 |
copy number gain |
See cases [RCV000053613] |
Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] |
Chr11:196966..3624139 [GRCh38] Chr11:196966..3645369 [GRCh37] Chr11:186966..3601945 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
NM_001909.5(CTSD):c.358C>T (p.His120Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001231083] |
Chr11:1759082 [GRCh38] Chr11:1780312 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1072-7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000614328]|Neuronal ceroid lipofuscinosis [RCV001083725]|not provided [RCV000675950]|not specified [RCV000116850] |
Chr11:1753677 [GRCh38] Chr11:1774907 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001399180]|not provided [RCV001704020]|not specified [RCV000116851] |
Chr11:1753605 [GRCh38] Chr11:1774835 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312083]|Neuronal ceroid lipofuscinosis 10 [RCV000625067]|Neuronal ceroid lipofuscinosis [RCV000229710]|not provided [RCV000675948]|not specified [RCV000116852] |
Chr11:1753527 [GRCh38] Chr11:1774757 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002312084]|Neuronal ceroid lipofuscinosis 10 [RCV000625347]|Neuronal ceroid lipofuscinosis [RCV001517366]|not provided [RCV000675959]|not specified [RCV000116853] |
Chr11:1761364 [GRCh38] Chr11:1782594 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001909.5(CTSD):c.189C>T (p.Thr63=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313874]|Neuronal ceroid lipofuscinosis 10 [RCV000625346]|Neuronal ceroid lipofuscinosis [RCV001084022]|not provided [RCV000472044]|not specified [RCV000116854] |
Chr11:1761348 [GRCh38] Chr11:1782578 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001909.5(CTSD):c.231C>T (p.Ala77=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312085]|Neuronal ceroid lipofuscinosis 10 [RCV000625345]|Neuronal ceroid lipofuscinosis [RCV001517365]|not provided [RCV000675958]|not specified [RCV000116855] |
Chr11:1759637 [GRCh38] Chr11:1780867 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001909.5(CTSD):c.465T>C (p.Thr155=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312086]|Neuronal ceroid lipofuscinosis 10 [RCV000625344]|Neuronal ceroid lipofuscinosis [RCV001517364]|not provided [RCV000675955]|not specified [RCV000116856] |
Chr11:1758975 [GRCh38] Chr11:1758975..1758976 [GRCh38] Chr11:1780205 [GRCh37] Chr11:1780205..1780206 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002313875]|Neuronal ceroid lipofuscinosis 10 [RCV000625068]|Neuronal ceroid lipofuscinosis [RCV001079523]|not provided [RCV000431476]|not specified [RCV000116857] |
Chr11:1754122 [GRCh38] Chr11:1775352 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001909.5(CTSD):c.828-19A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV002498595]|Neuronal ceroid lipofuscinosis [RCV002055516]|not provided [RCV000675952]|not specified [RCV000124621] |
Chr11:1754157 [GRCh38] Chr11:1775387 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.846G>A (p.Gly282=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312557]|Neuronal ceroid lipofuscinosis [RCV000525344]|not specified [RCV000179834] |
Chr11:1754120 [GRCh38] Chr11:1775350 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.912G>A (p.Pro304=) |
single nucleotide variant |
CTSD-related disorder [RCV003965044]|Inborn genetic diseases [RCV002312558]|Neuronal ceroid lipofuscinosis 10 [RCV000262670]|Neuronal ceroid lipofuscinosis [RCV001082524]|not provided [RCV000724427]|not specified [RCV000186625] |
Chr11:1754054 [GRCh38] Chr11:1775284 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.951C>T (p.Ala317=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312870]|Neuronal ceroid lipofuscinosis 10 [RCV000268185]|Neuronal ceroid lipofuscinosis [RCV000473433]|not specified [RCV000124625] |
Chr11:1754015 [GRCh38] Chr11:1775245 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.1071+7G>A |
single nucleotide variant |
CTSD-related disorder [RCV003915248]|Neuronal ceroid lipofuscinosis 10 [RCV001103554]|Neuronal ceroid lipofuscinosis [RCV000475449]|not specified [RCV000124626] |
Chr11:1753796 [GRCh38] Chr11:1775026 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.1071+12A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103553]|Neuronal ceroid lipofuscinosis [RCV002055517]|not provided [RCV001580047]|not specified [RCV000124627] |
Chr11:1753791 [GRCh38] Chr11:1775021 [GRCh37] Chr11:11p15.5 |
benign|likely benign|uncertain significance |
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) |
single nucleotide variant |
Inborn genetic diseases [RCV002415612]|Neuronal ceroid lipofuscinosis [RCV001401821]|not provided [RCV000675949]|not specified [RCV000124629] |
Chr11:1753665 [GRCh38] Chr11:1774895 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632755]|not specified [RCV000124630] |
Chr11:1753620 [GRCh38] Chr11:1774850 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.*19G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000313453]|not provided [RCV004718000]|not specified [RCV000124631] |
Chr11:1753484 [GRCh38] Chr11:1774714 [GRCh37] Chr11:11p15.5 |
benign|uncertain significance |
NM_001909.5(CTSD):c.153C>T (p.Pro51=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316363]|Neuronal ceroid lipofuscinosis 10 [RCV002498596]|Neuronal ceroid lipofuscinosis [RCV001467036]|not specified [RCV000124632] |
Chr11:1761384 [GRCh38] Chr11:1782614 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.228C>T (p.Asp76=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001854685]|not specified [RCV000124635] |
Chr11:1761309 [GRCh38] Chr11:1782539 [GRCh37] Chr11:11p15.5 |
benign|uncertain significance |
NM_001909.5(CTSD):c.228+18G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002055518]|not specified [RCV000124636] |
Chr11:1761291 [GRCh38] Chr11:1782521 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) |
single nucleotide variant |
CTSD-related disorder [RCV003965045]|Inborn genetic diseases [RCV002316364]|Neuronal ceroid lipofuscinosis 10 [RCV001108794]|Neuronal ceroid lipofuscinosis [RCV000463645]|not specified [RCV000124638] |
Chr11:1759628 [GRCh38] Chr11:1780858 [GRCh37] Chr11:11p15.5 |
benign|likely benign|uncertain significance |
NM_001909.5(CTSD):c.261G>A (p.Thr87=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453449]|Neuronal ceroid lipofuscinosis [RCV000865704]|not specified [RCV000124639] |
Chr11:1759607 [GRCh38] Chr11:1780837 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.270G>A (p.Gln90=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647744]|not specified [RCV000124640] |
Chr11:1759598 [GRCh38] Chr11:1780828 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.294G>A (p.Thr98=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000706456]|not provided [RCV001355385]|not specified [RCV000124641] |
Chr11:1759574 [GRCh38] Chr11:1780804 [GRCh37] Chr11:11p15.5 |
benign|likely benign|uncertain significance |
NM_001909.5(CTSD):c.353-17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001512733]|not provided [RCV000675957]|not specified [RCV000124642] |
Chr11:1759104 [GRCh38] Chr11:1780334 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.353-12C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002453450]|Neuronal ceroid lipofuscinosis 10 [RCV000602896]|Neuronal ceroid lipofuscinosis [RCV001511074]|not provided [RCV000675956]|not specified [RCV000124643] |
Chr11:1759099 [GRCh38] Chr11:1780329 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.353-11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002055519]|not specified [RCV000124644] |
Chr11:1759098 [GRCh38] Chr11:1780328 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.432G>A (p.Ser144=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326832]|Neuronal ceroid lipofuscinosis [RCV000632715]|not specified [RCV000124645] |
Chr11:1759008 [GRCh38] Chr11:1780238 [GRCh37] Chr11:11p15.5 |
benign|likely benign|uncertain significance |
NM_001909.5(CTSD):c.471+15G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002055520]|not specified [RCV000124647] |
Chr11:1758954 [GRCh38] Chr11:1780184 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.-24C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000264846]|not specified [RCV000124648] |
Chr11:1763883 [GRCh38] Chr11:1785113 [GRCh37] Chr11:11p15.5 |
benign|uncertain significance |
NM_001909.5(CTSD):c.639C>G (p.Pro213=) |
single nucleotide variant |
Inborn genetic diseases [RCV002354314]|Neuronal ceroid lipofuscinosis 10 [RCV000625343]|Neuronal ceroid lipofuscinosis [RCV001084602]|not provided [RCV000675953]|not specified [RCV000124649] |
Chr11:1757389 [GRCh38] Chr11:1778619 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.704+6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001245840]|not specified [RCV000124650] |
Chr11:1757318 [GRCh38] Chr11:1778548 [GRCh37] Chr11:11p15.5 |
benign|uncertain significance |
NM_001909.5(CTSD):c.827+13T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000625069]|Neuronal ceroid lipofuscinosis [RCV002055521]|not specified [RCV000124651] |
Chr11:1754893 [GRCh38] Chr11:1776123 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 |
copy number gain |
See cases [RCV000133997] |
Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 |
copy number gain |
See cases [RCV000136847] |
Chr11:1537379..3360769 [GRCh38] Chr11:1558609..3381999 [GRCh37] Chr11:1515185..3338575 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 |
copy number gain |
See cases [RCV000139987] |
Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 |
copy number loss |
See cases [RCV000142464] |
Chr11:1132899..3213923 [GRCh38] Chr11:1126807..3235153 [GRCh37] Chr11:1116807..3191729 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 |
copy number gain |
See cases [RCV000142890] |
Chr11:196855..5321874 [GRCh38] Chr11:196855..5343104 [GRCh37] Chr11:186855..5299680 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 |
copy number gain |
See cases [RCV000142923] |
Chr11:196855..2116185 [GRCh38] Chr11:196855..2137415 [GRCh37] Chr11:186855..2093991 [NCBI36] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.75G>A (p.Pro25=) |
single nucleotide variant |
CTSD-related disorder [RCV003907574]|Inborn genetic diseases [RCV002390429]|Neuronal ceroid lipofuscinosis [RCV001078653]|not provided [RCV000187304] |
Chr11:1761462 [GRCh38] Chr11:1782692 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.1155_1169dup (p.Phe389_Ile390insMetGlyAspValPhe) |
duplication |
Exaggerated startle response [RCV000162114] |
Chr11:1753572..1753573 [GRCh38] Chr11:1774802..1774803 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.267C>G (p.Pro89=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433772]|Neuronal ceroid lipofuscinosis [RCV001448695]|not provided [RCV000724386] |
Chr11:1759601 [GRCh38] Chr11:1780831 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002356389]|Neuronal ceroid lipofuscinosis 10 [RCV000395099]|Neuronal ceroid lipofuscinosis [RCV000808865]|not provided [RCV000726035] |
Chr11:1753580 [GRCh38] Chr11:1774810 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000190882]|not provided [RCV004700577] |
Chr11:1758994 [GRCh38] Chr11:1780224 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000190883]|Neuronal ceroid lipofuscinosis [RCV001852537] |
Chr11:1753546 [GRCh38] Chr11:1774776 [GRCh37] Chr11:11p15.5 |
pathogenic|uncertain significance |
NM_001909.5(CTSD):c.828-14_828-13del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002054197]|not specified [RCV000187287] |
Chr11:1754151..1754152 [GRCh38] Chr11:1775381..1775382 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002513998]|not specified [RCV000187294] |
Chr11:1757531 [GRCh38] Chr11:1778761 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005055688]|not provided [RCV000187298] |
Chr11:1753892 [GRCh38] Chr11:1775122 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001108709]|Neuronal ceroid lipofuscinosis [RCV000810246] |
Chr11:1753623 [GRCh38] Chr11:1774853 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1211T>G (p.Val404Gly) |
single nucleotide variant |
not provided [RCV000187303] |
Chr11:1753531 [GRCh38] Chr11:1774761 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002513999]|not provided [RCV000187307] |
Chr11:1759606 [GRCh38] Chr11:1780836 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001857609]|not provided [RCV000187308] |
Chr11:1759064 [GRCh38] Chr11:1780294 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe) |
single nucleotide variant |
not provided [RCV000187309] |
Chr11:1758997 [GRCh38] Chr11:1780227 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002317091]|Neuronal ceroid lipofuscinosis [RCV000687303]|not provided [RCV000187311] |
Chr11:1763808 [GRCh38] Chr11:1785038 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.4(CTSD):c.502G>A (p.Ala168Thr) |
single nucleotide variant |
not specified [RCV000187312] |
Chr11:1757526 [GRCh38] Chr11:1778756 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.561C>T (p.Gly187=) |
single nucleotide variant |
not provided [RCV000187313] |
Chr11:1757467 [GRCh38] Chr11:1778697 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001306052]|not provided [RCV000187319] |
Chr11:1753846 [GRCh38] Chr11:1775076 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002433840]|Neuronal ceroid lipofuscinosis [RCV001207662]|not provided [RCV000187320] |
Chr11:1759569 [GRCh38] Chr11:1780799 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.957G>A (p.Pro319=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381627]|Neuronal ceroid lipofuscinosis [RCV000554524]|not specified [RCV000187288] |
Chr11:1754009 [GRCh38] Chr11:1775239 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.*11G>A |
single nucleotide variant |
not specified [RCV000187289] |
Chr11:1753492 [GRCh38] Chr11:1774722 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002054198]|not specified [RCV000187290] |
Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002314713]|Neuronal ceroid lipofuscinosis 10 [RCV001108795]|Neuronal ceroid lipofuscinosis [RCV000862792]|not provided [RCV001721192] |
Chr11:1761383 [GRCh38] Chr11:1782613 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.216G>A (p.Lys72=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426904]|Neuronal ceroid lipofuscinosis [RCV000457610]|not specified [RCV000187292] |
Chr11:1761321 [GRCh38] Chr11:1782551 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103645]|Neuronal ceroid lipofuscinosis [RCV000796035]|not provided [RCV003324727] |
Chr11:1763846 [GRCh38] Chr11:1785076 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.630C>T (p.Asn210=) |
single nucleotide variant |
Inborn genetic diseases [RCV002362980]|Neuronal ceroid lipofuscinosis 10 [RCV002500571]|Neuronal ceroid lipofuscinosis [RCV000632738]|not specified [RCV000187295] |
Chr11:1757398 [GRCh38] Chr11:1778628 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu) |
single nucleotide variant |
not provided [RCV000187296] |
Chr11:1754089 [GRCh38] Chr11:1775319 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001105477]|Neuronal ceroid lipofuscinosis [RCV000705805]|not provided [RCV000187297] |
Chr11:1754038 [GRCh38] Chr11:1775268 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002516988]|not provided [RCV000187300] |
Chr11:1753592 [GRCh38] Chr11:1774822 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1175G>A (p.Arg392His) |
single nucleotide variant |
Inborn genetic diseases [RCV002637091]|Neuronal ceroid lipofuscinosis [RCV002612476] |
Chr11:1753567 [GRCh38] Chr11:1774797 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002345669]|Neuronal ceroid lipofuscinosis [RCV000632742]|not provided [RCV000187302] |
Chr11:1753540 [GRCh38] Chr11:1774770 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002317090]|Neuronal ceroid lipofuscinosis [RCV001085708]|not provided [RCV000710114] |
Chr11:1761437 [GRCh38] Chr11:1782667 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001852452]|not provided [RCV000187306] |
Chr11:1759627 [GRCh38] Chr11:1780857 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) |
single nucleotide variant |
CTSD-related disorder [RCV003967472]|Inborn genetic diseases [RCV002372146]|Neuronal ceroid lipofuscinosis 10 [RCV000763725]|Neuronal ceroid lipofuscinosis [RCV000231366]|not provided [RCV000727458] |
Chr11:1763852 [GRCh38] Chr11:1785082 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000541141]|not provided [RCV000187314]|not specified [RCV003330553] |
Chr11:1754982 [GRCh38] Chr11:1776212 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001041227]|not provided [RCV000187315] |
Chr11:1754975 [GRCh38] Chr11:1776205 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000817194]|not provided [RCV000187316] |
Chr11:1754937 [GRCh38] Chr11:1776167 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.926G>A (p.Arg309His) |
single nucleotide variant |
Inborn genetic diseases [RCV002314714]|Neuronal ceroid lipofuscinosis 10 [RCV003144152]|Neuronal ceroid lipofuscinosis [RCV000864860]|not provided [RCV001711476] |
Chr11:1754040 [GRCh38] Chr11:1775270 [GRCh37] Chr11:11p15.5 |
benign|likely benign|uncertain significance |
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001044040]|not provided [RCV000187318] |
Chr11:1754010 [GRCh38] Chr11:1775240 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 |
copy number gain |
See cases [RCV000446036] |
Chr11:193187..5291338 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207104] |
Chr11:870446..1857751 [GRCh37] Chr11:11p15.5 |
uncertain significance |
chr11:1092954..1857751 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207239] |
Chr11:1092954..1857751 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp) |
single nucleotide variant |
not provided [RCV000224560] |
Chr11:1759627 [GRCh38] Chr11:1780857 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.352+10G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001411218]|not specified [RCV000615880] |
Chr11:1759506 [GRCh38] Chr11:1780736 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3 |
copy number gain |
See cases [RCV000239868] |
Chr11:1774508..1785629 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002429217]|Neuronal ceroid lipofuscinosis 10 [RCV000308097]|Neuronal ceroid lipofuscinosis [RCV001084655]|not provided [RCV000725129] |
Chr11:1753865 [GRCh38] Chr11:1775095 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.828-17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000625342]|Neuronal ceroid lipofuscinosis [RCV001517363]|not provided [RCV000675951]|not specified [RCV000253879] |
Chr11:1754155 [GRCh38] Chr11:1775385 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.89C>T (p.Thr30Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002376959]|Neuronal ceroid lipofuscinosis [RCV001060632]|not provided [RCV000522018] |
Chr11:1761448 [GRCh38] Chr11:1782678 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*117C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000281653] |
Chr11:1753386 [GRCh38] Chr11:1774616 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*694G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000368359] |
Chr11:1752809 [GRCh38] Chr11:1774039 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*358C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000323052] |
Chr11:1753145 [GRCh38] Chr11:1774375 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.-37G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000303572]|not specified [RCV000443172] |
Chr11:1763896 [GRCh38] Chr11:1785126 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.90G>A (p.Thr30=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314044]|Neuronal ceroid lipofuscinosis 10 [RCV000304091]|Neuronal ceroid lipofuscinosis [RCV000632764]|not provided [RCV001711904] |
Chr11:1761447 [GRCh38] Chr11:1782677 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.*654C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000271530] |
Chr11:1752849 [GRCh38] Chr11:1774079 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*403C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000289130] |
Chr11:1753100 [GRCh38] Chr11:1774330 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*597A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000328943]|not provided [RCV004718392] |
Chr11:1752906 [GRCh38] Chr11:1774136 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.111G>C (p.Ser37=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000404301]|Neuronal ceroid lipofuscinosis [RCV003765791] |
Chr11:1761426 [GRCh38] Chr11:1782656 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.*67A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000334480]|not provided [RCV001618528]|not specified [RCV004594039] |
Chr11:1753436 [GRCh38] Chr11:1774666 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.*140G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000408142] |
Chr11:1753363 [GRCh38] Chr11:1774593 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.660G>C (p.Gln220His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000280332] |
Chr11:1757368 [GRCh38] Chr11:1778598 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.-53C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000263495] |
Chr11:1763912 [GRCh38] Chr11:1785142 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.*342C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000282795] |
Chr11:1753161 [GRCh38] Chr11:1774391 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000320938]|Neuronal ceroid lipofuscinosis [RCV001298704] |
Chr11:1754020 [GRCh38] Chr11:1775250 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000366378]|Neuronal ceroid lipofuscinosis [RCV000693378] |
Chr11:1753658 [GRCh38] Chr11:1774888 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*736C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000330067] |
Chr11:1752767 [GRCh38] Chr11:1773997 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+10G>A |
single nucleotide variant |
CTSD-related disorder [RCV003940033]|Neuronal ceroid lipofuscinosis [RCV001434058]|not provided [RCV000725998]|not specified [RCV000389907] |
Chr11:1753984 [GRCh38] Chr11:1775214 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436145]|Neuronal ceroid lipofuscinosis 10 [RCV000309391]|Neuronal ceroid lipofuscinosis [RCV000560295]|not provided [RCV001718613] |
Chr11:1753626 [GRCh38] Chr11:1774856 [GRCh37] Chr11:11p15.5 |
benign|likely benign|uncertain significance |
NM_001909.5(CTSD):c.-12GCC[5] (p.Met1_Gln2insAla) |
microsatellite |
not provided [RCV000398094] |
Chr11:1763859..1763860 [GRCh38] Chr11:1785089..1785090 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr) |
single nucleotide variant |
not provided [RCV000326932] |
Chr11:1759522 [GRCh38] Chr11:1780752 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.-3G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000361174] |
Chr11:1763862 [GRCh38] Chr11:1785092 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*300G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000340202]|not provided [RCV001594937] |
Chr11:1753203 [GRCh38] Chr11:1774433 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
GRCh37/hg19 11p15.5(chr11:1621232-2228572) |
copy number gain |
Beckwith-Wiedemann syndrome [RCV002280763] |
Chr11:1621232..2228572 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.266C>T (p.Pro89Leu) |
single nucleotide variant |
not provided [RCV003239080] |
Chr11:1759602 [GRCh38] Chr11:1780832 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.411G>A (p.Ser137=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325137]|Neuronal ceroid lipofuscinosis [RCV002062096]|not provided [RCV000595979] |
Chr11:1759029 [GRCh38] Chr11:1780259 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.*356C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000379954] |
Chr11:1753147 [GRCh38] Chr11:1774377 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*574C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000380993] |
Chr11:1752929 [GRCh38] Chr11:1774159 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.4(CTSD):c.-132_-131insCCCGC |
microsatellite |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000316369] |
Chr11:1763990..1763991 [GRCh38] Chr11:1785220..1785221 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*58C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000406144] |
Chr11:1753445 [GRCh38] Chr11:1774675 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003352933]|Neuronal ceroid lipofuscinosis [RCV000698402]|not provided [RCV000597487] |
Chr11:1753583 [GRCh38] Chr11:1774813 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000351658] |
Chr11:1757369 [GRCh38] Chr11:1778599 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.-47A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000355994] |
Chr11:1763906 [GRCh38] Chr11:1785136 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000378283] |
Chr11:1754026 [GRCh38] Chr11:1775256 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.973-8C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000360520]|Neuronal ceroid lipofuscinosis [RCV001850607] |
Chr11:1753909 [GRCh38] Chr11:1775139 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.63C>T (p.Leu21=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368027]|Neuronal ceroid lipofuscinosis [RCV001480819]|not provided [RCV000596155] |
Chr11:1763797 [GRCh38] Chr11:1785027 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.704+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002062024]|not provided [RCV000591071] |
Chr11:1757317 [GRCh38] Chr11:1778547 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000537256] |
Chr11:1759597 [GRCh38] Chr11:1780827 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002536507]|not provided [RCV000733905] |
Chr11:1753557 [GRCh38] Chr11:1774787 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val) |
single nucleotide variant |
not specified [RCV000412883] |
Chr11:1753864 [GRCh38] Chr11:1775094 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala) |
single nucleotide variant |
not specified [RCV000413884] |
Chr11:1754963 [GRCh38] Chr11:1776193 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 |
copy number gain |
See cases [RCV000449417] |
Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_001909.5(CTSD):c.552G>A (p.Lys184=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647771]|not specified [RCV000427553] |
Chr11:1757476 [GRCh38] Chr11:1778706 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-16G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002064941]|not specified [RCV000434347] |
Chr11:1761484 [GRCh38] Chr11:1782714 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-5C>T |
single nucleotide variant |
CTSD-related disorder [RCV003970137]|Inborn genetic diseases [RCV002318407]|Neuronal ceroid lipofuscinosis [RCV002062325]|not specified [RCV000441533] |
Chr11:1754143 [GRCh38] Chr11:1775373 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.*15G>A |
single nucleotide variant |
not specified [RCV000445115] |
Chr11:1753488 [GRCh38] Chr11:1774718 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-15T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002060076]|not specified [RCV000445230] |
Chr11:1757571 [GRCh38] Chr11:1778801 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.705-4C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001445896]|not specified [RCV000418016] |
Chr11:1755032 [GRCh38] Chr11:1776262 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.*17G>A |
single nucleotide variant |
not specified [RCV000420930] |
Chr11:1753486 [GRCh38] Chr11:1774716 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+9T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003766241]|not specified [RCV000438246] |
Chr11:1754897 [GRCh38] Chr11:1776127 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.-32C>T |
single nucleotide variant |
not specified [RCV000424377] |
Chr11:1763891 [GRCh38] Chr11:1785121 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.68+10C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002522489]|not specified [RCV000421192] |
Chr11:1763782 [GRCh38] Chr11:1785012 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-17C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001861492]|not specified [RCV000431899] |
Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.621C>A (p.Ser207=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001373219]|not specified [RCV000435141] |
Chr11:1757407 [GRCh38] Chr11:1778637 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1071+9G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005090868]|not specified [RCV000421297] |
Chr11:1753794 [GRCh38] Chr11:1775024 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.-40C>T |
single nucleotide variant |
not specified [RCV000442438] |
Chr11:1763899 [GRCh38] Chr11:1785129 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356523]|Neuronal ceroid lipofuscinosis [RCV000538080]|not provided [RCV004705526]|not specified [RCV000425322] |
Chr11:1759047 [GRCh38] Chr11:1780277 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+7G>A |
single nucleotide variant |
CTSD-related disorder [RCV003957906]|Neuronal ceroid lipofuscinosis [RCV000469583]|not specified [RCV000443050] |
Chr11:1753987 [GRCh38] Chr11:1775217 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.489G>A (p.Ala163=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002063638]|not provided [RCV001721474] |
Chr11:1757539 [GRCh38] Chr11:1778769 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.68+10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001393028]|not specified [RCV000436222] |
Chr11:1763782 [GRCh38] Chr11:1785012 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.*14C>T |
single nucleotide variant |
not specified [RCV000419827] |
Chr11:1753489 [GRCh38] Chr11:1774719 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313124]|Neuronal ceroid lipofuscinosis [RCV000467737]|not specified [RCV000422494] |
Chr11:1753512 [GRCh38] Chr11:1774742 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002061371]|not specified [RCV000436388] |
Chr11:1754156 [GRCh38] Chr11:1775386 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_001909.5(CTSD):c.636G>T (p.Leu212=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632760]|not specified [RCV000439920] |
Chr11:1757392 [GRCh38] Chr11:1778622 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.510C>T (p.Gly170=) |
single nucleotide variant |
Inborn genetic diseases [RCV002348196]|Neuronal ceroid lipofuscinosis [RCV001395738]|not specified [RCV000443594] |
Chr11:1757518 [GRCh38] Chr11:1778748 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.-30G>C |
single nucleotide variant |
not specified [RCV000420042] |
Chr11:1763889 [GRCh38] Chr11:1785119 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001335880]|Neuronal ceroid lipofuscinosis [RCV001037357]|not provided [RCV000420091] |
Chr11:1754916 [GRCh38] Chr11:1776146 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*10C>T |
single nucleotide variant |
not specified [RCV000436618] |
Chr11:1753493 [GRCh38] Chr11:1774723 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.534C>G (p.Val178=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000869440]|not specified [RCV000436645] |
Chr11:1757494 [GRCh38] Chr11:1778724 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.*4C>G |
single nucleotide variant |
not specified [RCV000429936] |
Chr11:1753499 [GRCh38] Chr11:1774729 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.945C>T (p.Ile315=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000870278]|not specified [RCV000444153] |
Chr11:1754021 [GRCh38] Chr11:1775251 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1071+12A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647768]|not specified [RCV000430515] |
Chr11:1753791 [GRCh38] Chr11:1775021 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) |
microsatellite |
Neuronal ceroid lipofuscinosis 10 [RCV000417103]|Neuronal ceroid lipofuscinosis [RCV002521500]|not specified [RCV004701461] |
Chr11:1757340..1757342 [GRCh38] Chr11:1778570..1778572 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_001909.5(CTSD):c.184G>A (p.Val62Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000461942] |
Chr11:1761353 [GRCh38] Chr11:1782583 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000463026]|not provided [RCV002261090] |
Chr11:1753534 [GRCh38] Chr11:1774764 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.180A>G (p.Pro60=) |
single nucleotide variant |
CTSD-related disorder [RCV003972789]|Inborn genetic diseases [RCV002318558]|Neuronal ceroid lipofuscinosis [RCV001411224] |
Chr11:1761357 [GRCh38] Chr11:1782587 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.408C>G (p.Thr136=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323798]|Neuronal ceroid lipofuscinosis [RCV000464513] |
Chr11:1759032 [GRCh38] Chr11:1780262 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.891C>T (p.Gly297=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000469818] |
Chr11:1754075 [GRCh38] Chr11:1775305 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1071+6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000471585] |
Chr11:1753797 [GRCh38] Chr11:1775027 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000476391] |
Chr11:1757517 [GRCh38] Chr11:1778747 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.345C>T (p.Ile115=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000477425] |
Chr11:1759523 [GRCh38] Chr11:1780753 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+5G>A |
single nucleotide variant |
not provided [RCV000483526] |
Chr11:1757319 [GRCh38] Chr11:1778549 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106639]|Neuronal ceroid lipofuscinosis [RCV000796838]|not provided [RCV000483803]|not specified [RCV001844175] |
Chr11:1759585 [GRCh38] Chr11:1780815 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000456725] |
Chr11:1757540 [GRCh38] Chr11:1778770 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000457838] |
Chr11:1763796 [GRCh38] Chr11:1785026 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002524089]|not provided [RCV000498815] |
Chr11:1753532 [GRCh38] Chr11:1774762 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 |
copy number gain |
See cases [RCV000511561] |
Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
NM_001909.5(CTSD):c.7C>T (p.Pro3Ser) |
single nucleotide variant |
not provided [RCV000494107] |
Chr11:1763853 [GRCh38] Chr11:1785083 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.268dup (p.Gln90fs) |
duplication |
Neuronal ceroid lipofuscinosis 10 [RCV004796203]|Neuronal ceroid lipofuscinosis [RCV002527103]|not provided [RCV000494186] |
Chr11:1759599..1759600 [GRCh38] Chr11:1780829..1780830 [GRCh37] Chr11:11p15.5 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro) |
single nucleotide variant |
not provided [RCV000493037] |
Chr11:1757375 [GRCh38] Chr11:1778605 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.471G>A (p.Ser157=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317924]|Neuronal ceroid lipofuscinosis [RCV000701864] |
Chr11:1758969 [GRCh38] Chr11:1780199 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002358771]|Neuronal ceroid lipofuscinosis 10 [RCV004799223]|Neuronal ceroid lipofuscinosis [RCV000632710]|not provided [RCV001560644] |
Chr11:1757436 [GRCh38] Chr11:1778666 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.352+8A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001505872] |
Chr11:1759508 [GRCh38] Chr11:1780738 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632681] |
Chr11:1753881 [GRCh38] Chr11:1775111 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002360524]|Neuronal ceroid lipofuscinosis [RCV000632712] |
Chr11:1761436 [GRCh38] Chr11:1782666 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002360525]|Neuronal ceroid lipofuscinosis [RCV000632718] |
Chr11:1753507 [GRCh38] Chr11:1774737 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.933G>A (p.Leu311=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632728] |
Chr11:1754033 [GRCh38] Chr11:1775263 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001088576]|not provided [RCV000733126] |
Chr11:1753985 [GRCh38] Chr11:1775215 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448945]|Neuronal ceroid lipofuscinosis [RCV000632753]|not provided [RCV000827569] |
Chr11:1753851 [GRCh38] Chr11:1775081 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) |
single nucleotide variant |
CTSD-related disorder [RCV003945587]|Inborn genetic diseases [RCV002315951]|Neuronal ceroid lipofuscinosis [RCV000632767]|not provided [RCV001821790] |
Chr11:1759030 [GRCh38] Chr11:1780260 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.816C>A (p.Val272=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632771] |
Chr11:1754917 [GRCh38] Chr11:1776147 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.867C>T (p.Gly289=) |
single nucleotide variant |
not specified [RCV000612256] |
Chr11:1754099 [GRCh38] Chr11:1775329 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.627C>T (p.Asn209=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001401654]|not specified [RCV000614996] |
Chr11:1757401 [GRCh38] Chr11:1778631 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.-45A>G |
single nucleotide variant |
not specified [RCV000612989] |
Chr11:1763904 [GRCh38] Chr11:1785134 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-12C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647788]|not provided [RCV001698437] |
Chr11:1761480 [GRCh38] Chr11:1782710 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000533638] |
Chr11:1753521 [GRCh38] Chr11:1774751 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.492G>A (p.Ser164=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001462628]|not specified [RCV000616807] |
Chr11:1757536 [GRCh38] Chr11:1778766 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-4G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632727]|not provided [RCV001697431] |
Chr11:1754142 [GRCh38] Chr11:1775372 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.882G>A (p.Val294=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000539647] |
Chr11:1754084 [GRCh38] Chr11:1775314 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.19C>G (p.Leu7Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002528310]|Neuronal ceroid lipofuscinosis [RCV000558802] |
Chr11:1763841 [GRCh38] Chr11:1785071 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.780C>T (p.Ser260=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002063236]|not specified [RCV000604029] |
Chr11:1754953 [GRCh38] Chr11:1776183 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.111G>A (p.Ser37=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632708]|not provided [RCV000711336] |
Chr11:1761426 [GRCh38] Chr11:1782656 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632733] |
Chr11:1753614 [GRCh38] Chr11:1774844 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.-36G>C |
single nucleotide variant |
not specified [RCV000605540] |
Chr11:1763895 [GRCh38] Chr11:1785125 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002064257]|not specified [RCV000607652] |
Chr11:1757306 [GRCh38] Chr11:1778536 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 |
copy number gain |
See cases [RCV000512225] |
Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3 |
pathogenic |
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 |
copy number gain |
See cases [RCV000512477] |
Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3 |
copy number gain |
See cases [RCV000512345] |
Chr11:1690968..2277648 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.76C>A (p.Leu26Met) |
single nucleotide variant |
not provided [RCV000658314] |
Chr11:1761461 [GRCh38] Chr11:1782691 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.229-19G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001861696]|not provided [RCV000658402] |
Chr11:1759658 [GRCh38] Chr11:1780888 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000688842] |
Chr11:1759615 [GRCh38] Chr11:1780845 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.37C>T (p.Leu13=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316092]|Neuronal ceroid lipofuscinosis [RCV003532251]|not provided [RCV003236838] |
Chr11:1763823 [GRCh38] Chr11:1785053 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1236C>G (p.Leu412=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314432]|Neuronal ceroid lipofuscinosis [RCV003647799] |
Chr11:1753506 [GRCh38] Chr11:1774736 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000807444]|not provided [RCV000675954] |
Chr11:1757415 [GRCh38] Chr11:1778645 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.353-6G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000692615] |
Chr11:1759093 [GRCh38] Chr11:1780323 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000697591] |
Chr11:1761347 [GRCh38] Chr11:1782577 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.465_466inv (p.Val156Met) |
inversion |
Neuronal ceroid lipofuscinosis [RCV000688522] |
Chr11:1758974..1758975 [GRCh38] Chr11:1780204..1780205 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 |
copy number gain |
not provided [RCV000683372] |
Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 |
copy number gain |
not provided [RCV000683369] |
Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_001909.5(CTSD):c.977T>C (p.Met326Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002316111] |
Chr11:1753897 [GRCh38] Chr11:1775127 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002316063] |
Chr11:1753838 [GRCh38] Chr11:1775068 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV000767946]|Neuronal ceroid lipofuscinosis [RCV000703279] |
Chr11:1753559 [GRCh38] Chr11:1774789 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002313602]|Neuronal ceroid lipofuscinosis [RCV001348162]|not provided [RCV001555248] |
Chr11:1757523 [GRCh38] Chr11:1778753 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1170C>G (p.Ile390Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002318303] |
Chr11:1753572 [GRCh38] Chr11:1774802 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002317583] |
Chr11:1759009 [GRCh38] Chr11:1780239 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.633G>C (p.Val211=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318302] |
Chr11:1757395 [GRCh38] Chr11:1778625 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.366G>A (p.Lys122=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002569013]|not provided [RCV001561427] |
Chr11:1759074 [GRCh38] Chr11:1780304 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_001909.5(CTSD):c.447G>A (p.Gly149=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332933]|Neuronal ceroid lipofuscinosis [RCV000941234]|not provided [RCV001638019] |
Chr11:1758993 [GRCh38] Chr11:1780223 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.*207TC[2] |
microsatellite |
not provided [RCV001565420] |
Chr11:1753291..1753292 [GRCh38] Chr11:1774521..1774522 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-199C>T |
single nucleotide variant |
not provided [RCV001609544] |
Chr11:1757755 [GRCh38] Chr11:1778985 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.6G>A (p.Gln2=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000983303] |
Chr11:1763854 [GRCh38] Chr11:1785084 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.622G>A (p.Val208Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001059091] |
Chr11:1757406 [GRCh38] Chr11:1778636 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001059443] |
Chr11:1758977 [GRCh38] Chr11:1780207 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001035972] |
Chr11:1761334 [GRCh38] Chr11:1782564 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000807827] |
Chr11:1761463 [GRCh38] Chr11:1782693 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.-6G>T |
single nucleotide variant |
not provided [RCV000827263] |
Chr11:1763865 [GRCh38] Chr11:1785095 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.99C>G (p.Arg33=) |
single nucleotide variant |
not provided [RCV000925391] |
Chr11:1761438 [GRCh38] Chr11:1782668 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) |
copy number gain |
Silver-Russell syndrome 1 [RCV000767567] |
Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3 |
pathogenic |
NM_001909.5(CTSD):c.697C>T (p.Leu233=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001500461]|not provided [RCV000868179] |
Chr11:1757331 [GRCh38] Chr11:1778561 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001909.5(CTSD):c.993G>A (p.Lys331=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381966]|Neuronal ceroid lipofuscinosis [RCV000869677] |
Chr11:1753881 [GRCh38] Chr11:1775111 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004609551]|Neuronal ceroid lipofuscinosis [RCV000822425]|not provided [RCV001538292] |
Chr11:1761395 [GRCh38] Chr11:1782625 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000815835] |
Chr11:1753896 [GRCh38] Chr11:1775126 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003344060]|Neuronal ceroid lipofuscinosis [RCV000802812]|not provided [RCV005056571] |
Chr11:1763808 [GRCh38] Chr11:1785038 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001412267] |
Chr11:1753812 [GRCh38] Chr11:1775042 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.229-25C>T |
single nucleotide variant |
not provided [RCV000833044] |
Chr11:1759664 [GRCh38] Chr11:1780894 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.352+42T>C |
single nucleotide variant |
not provided [RCV000833045] |
Chr11:1759474 [GRCh38] Chr11:1780704 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.223A>G (p.Met75Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000815166] |
Chr11:1761314 [GRCh38] Chr11:1782544 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002537195]|Neuronal ceroid lipofuscinosis [RCV000805106] |
Chr11:1753805 [GRCh38] Chr11:1775035 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000814286] |
Chr11:1759567 [GRCh38] Chr11:1780797 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.472-27G>T |
single nucleotide variant |
not provided [RCV000832809] |
Chr11:1757583 [GRCh38] Chr11:1778813 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.174G>A (p.Ala58=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001088342]|not provided [RCV000830310] |
Chr11:1761363 [GRCh38] Chr11:1782593 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.927C>T (p.Arg309=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000816766] |
Chr11:1754039 [GRCh38] Chr11:1775269 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.4(CTSD):c.-278G>A |
single nucleotide variant |
not provided [RCV000837764] |
Chr11:1764137 [GRCh38] Chr11:1785367 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-247_828-221del |
deletion |
not provided [RCV000831028] |
Chr11:1754359..1754385 [GRCh38] Chr11:1775589..1775615 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+233G>A |
single nucleotide variant |
not provided [RCV000838908] |
Chr11:1757091 [GRCh38] Chr11:1778321 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.472-161G>T |
single nucleotide variant |
not provided [RCV000838910] |
Chr11:1757717 [GRCh38] Chr11:1778947 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.68+6G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000800807] |
Chr11:1763786 [GRCh38] Chr11:1785016 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000824082] |
Chr11:1759070 [GRCh38] Chr11:1780300 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.973-14G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532287]|not provided [RCV000827264] |
Chr11:1753915 [GRCh38] Chr11:1775145 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.141T>G (p.Ile47Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000795249] |
Chr11:1761396 [GRCh38] Chr11:1782626 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000812114] |
Chr11:1754964 [GRCh38] Chr11:1776194 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.184G>T (p.Val62Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001067786] |
Chr11:1761353 [GRCh38] Chr11:1782583 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.69-64C>T |
single nucleotide variant |
not provided [RCV000833043] |
Chr11:1761532 [GRCh38] Chr11:1782762 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.4(CTSD):c.-312A>G |
single nucleotide variant |
not provided [RCV000828470] |
Chr11:1764171 [GRCh38] Chr11:1785401 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.570C>T (p.Phe190=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001438941] |
Chr11:1757458 [GRCh38] Chr11:1778688 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.4(CTSD):c.-358G>A |
single nucleotide variant |
not provided [RCV000832208] |
Chr11:1764217 [GRCh38] Chr11:1785447 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.705-74C>T |
single nucleotide variant |
not provided [RCV000829889] |
Chr11:1755102 [GRCh38] Chr11:1776332 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.1072-34T>C |
single nucleotide variant |
not provided [RCV000829988] |
Chr11:1753704 [GRCh38] Chr11:1774934 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.68+251G>C |
single nucleotide variant |
not provided [RCV000832763] |
Chr11:1763541 [GRCh38] Chr11:1784771 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.352+48A>G |
single nucleotide variant |
not provided [RCV000832782] |
Chr11:1759468 [GRCh38] Chr11:1780698 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.288C>T (p.Phe96=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001452834]|not provided [RCV004707439] |
Chr11:1759580 [GRCh38] Chr11:1780810 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 |
copy number gain |
not provided [RCV001006372] |
Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001226038] |
Chr11:1757550 [GRCh38] Chr11:1778780 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001242360] |
Chr11:1757382 [GRCh38] Chr11:1778612 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1232G>A (p.Arg411His) |
single nucleotide variant |
Inborn genetic diseases [RCV002365756]|Neuronal ceroid lipofuscinosis 10 [RCV003145328]|Neuronal ceroid lipofuscinosis [RCV001065084] |
Chr11:1753510 [GRCh38] Chr11:1774740 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.68+5A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003107069] |
Chr11:1763787 [GRCh38] Chr11:1785017 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_1774733)_(1785089_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003107548] |
Chr11:1774733..1785089 [GRCh37] Chr11:11p15.5 |
pathogenic |
NC_000011.9:g.(?_1785002)_(1785089_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003107549] |
Chr11:1785002..1785089 [GRCh37] Chr11:11p15.5 |
pathogenic |
NC_000011.9:g.(?_1774733)_(1778806_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003107550] |
Chr11:1774733..1778806 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_1774733)_(2019125_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003107551] |
Chr11:1774733..2019125 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.472-99G>A |
single nucleotide variant |
not provided [RCV001641669] |
Chr11:1757655 [GRCh38] Chr11:1778885 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.827+41C>T |
single nucleotide variant |
not provided [RCV001713506] |
Chr11:1754865 [GRCh38] Chr11:1776095 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.228+133C>G |
single nucleotide variant |
not provided [RCV001722917] |
Chr11:1761176 [GRCh38] Chr11:1782406 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.69-277G>A |
single nucleotide variant |
not provided [RCV001560844] |
Chr11:1761745 [GRCh38] Chr11:1782975 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-53T>C |
single nucleotide variant |
not provided [RCV001583880] |
Chr11:1761521 [GRCh38] Chr11:1782751 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.558A>G (p.Pro186=) |
single nucleotide variant |
not provided [RCV001665477] |
Chr11:1757470 [GRCh38] Chr11:1778700 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+111del |
deletion |
Neuronal ceroid lipofuscinosis 10 [RCV001544266]|not provided [RCV001647403] |
Chr11:1754795 [GRCh38] Chr11:1776025 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.69-48C>T |
single nucleotide variant |
not provided [RCV001552402] |
Chr11:1761516 [GRCh38] Chr11:1782746 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1101G>A (p.Leu367=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000892288] |
Chr11:1753641 [GRCh38] Chr11:1774871 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.729T>C (p.Gly243=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001468085] |
Chr11:1755004 [GRCh38] Chr11:1776234 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.237C>T (p.Tyr79=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001453385] |
Chr11:1759631 [GRCh38] Chr11:1780861 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1158C>T (p.Gly386=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001218426]|not provided [RCV001586062] |
Chr11:1753584 [GRCh38] Chr11:1774814 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.*133G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106530] |
Chr11:1753370 [GRCh38] Chr11:1774600 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.285C>T (p.Val95=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106638]|Neuronal ceroid lipofuscinosis [RCV002069754] |
Chr11:1759583 [GRCh38] Chr11:1780813 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001236303] |
Chr11:1753514 [GRCh38] Chr11:1774744 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001108708]|Neuronal ceroid lipofuscinosis [RCV001856449] |
Chr11:1753520 [GRCh38] Chr11:1774750 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.631G>A (p.Val211Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002356940]|Neuronal ceroid lipofuscinosis [RCV001220875] |
Chr11:1757397 [GRCh38] Chr11:1778627 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001240980] |
Chr11:1754068 [GRCh38] Chr11:1775298 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001045318] |
Chr11:1761347 [GRCh38] Chr11:1782577 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.307C>G (p.Leu103Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001243878] |
Chr11:1759561 [GRCh38] Chr11:1780791 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001227961] |
Chr11:1757537 [GRCh38] Chr11:1778767 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.705-21A>T |
single nucleotide variant |
not provided [RCV001548250] |
Chr11:1755049 [GRCh38] Chr11:1776279 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+183G>A |
single nucleotide variant |
not provided [RCV001563502] |
Chr11:1757141 [GRCh38] Chr11:1778371 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+58G>A |
single nucleotide variant |
not provided [RCV001596765] |
Chr11:1757266 [GRCh38] Chr11:1778496 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.*390G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001105390] |
Chr11:1753113 [GRCh38] Chr11:1774343 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001071491] |
Chr11:1757363 [GRCh38] Chr11:1778593 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.315C>A (p.Val105=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106637]|Neuronal ceroid lipofuscinosis [RCV005093500] |
Chr11:1759553 [GRCh38] Chr11:1780783 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NC_000011.9:g.(?_532616)_(2906985_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001032557] |
Chr11:532616..2906985 [GRCh37] Chr11:11p15.5-15.4 |
uncertain significance |
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001108796] |
Chr11:1763811 [GRCh38] Chr11:1785041 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*200C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106529] |
Chr11:1753303 [GRCh38] Chr11:1774533 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*130G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106531] |
Chr11:1753373 [GRCh38] Chr11:1774603 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.614G>A (p.Arg205His) |
single nucleotide variant |
Inborn genetic diseases [RCV002555883]|Neuronal ceroid lipofuscinosis [RCV001069325]|not provided [RCV002221605] |
Chr11:1757414 [GRCh38] Chr11:1778644 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.229-87_229-86insCTTCAGGG |
insertion |
not provided [RCV001685756] |
Chr11:1759725..1759726 [GRCh38] Chr11:1780955..1780956 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.9:g.(?_612625)_(2193840_?)dup |
duplication |
Immunodeficiency 39 [RCV001033372] |
Chr11:612625..2193840 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV002489612]|Neuronal ceroid lipofuscinosis [RCV001050398] |
Chr11:1755017 [GRCh38] Chr11:1776247 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001050422] |
Chr11:1761467 [GRCh38] Chr11:1782697 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.69-63A>G |
single nucleotide variant |
not provided [RCV001690426] |
Chr11:1761531 [GRCh38] Chr11:1782761 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001236740] |
Chr11:1761322 [GRCh38] Chr11:1782552 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser) |
indel |
Neuronal ceroid lipofuscinosis [RCV001060987] |
Chr11:1758975..1758976 [GRCh38] Chr11:1780205..1780206 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.827+2T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001057268] |
Chr11:1754904 [GRCh38] Chr11:1776134 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.*651C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103462] |
Chr11:1752852 [GRCh38] Chr11:1774082 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*555C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103463] |
Chr11:1752948 [GRCh38] Chr11:1774178 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*509C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103464] |
Chr11:1752994 [GRCh38] Chr11:1774224 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001230679]|not provided [RCV001751450]|not specified [RCV003479300] |
Chr11:1763832 [GRCh38] Chr11:1785062 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*210C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106528]|not provided [RCV004693643] |
Chr11:1753293 [GRCh38] Chr11:1774523 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*98G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001106532] |
Chr11:1753405 [GRCh38] Chr11:1774635 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*494C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103465] |
Chr11:1753009 [GRCh38] Chr11:1774239 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.999C>A (p.Ser333=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103556]|Neuronal ceroid lipofuscinosis [RCV002558037] |
Chr11:1753875 [GRCh38] Chr11:1775105 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001103555]|Neuronal ceroid lipofuscinosis [RCV002298872] |
Chr11:1753840 [GRCh38] Chr11:1775070 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.829G>A (p.Val277Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001042243] |
Chr11:1754137 [GRCh38] Chr11:1775367 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001052450] |
Chr11:1761464 [GRCh38] Chr11:1782694 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001215480] |
Chr11:1759031 [GRCh38] Chr11:1780261 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.640G>A (p.Val214Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001215510] |
Chr11:1757388 [GRCh38] Chr11:1778618 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*398G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001105389] |
Chr11:1753105 [GRCh38] Chr11:1774335 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*375A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001105391] |
Chr11:1753128 [GRCh38] Chr11:1774358 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.*330G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV001105392] |
Chr11:1753173 [GRCh38] Chr11:1774403 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3 |
copy number gain |
not provided [RCV001259591] |
Chr11:1436158..2321134 [GRCh37] Chr11:11p15.5 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 |
copy number gain |
See cases [RCV001263059] |
Chr11:230615..4851537 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 |
copy number gain |
Silver-Russell syndrome 1 [RCV001263222] |
Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NC_000011.10:g.1764065del |
deletion |
not provided [RCV001536681] |
Chr11:1764065 [GRCh38] Chr11:1785295 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.827+22C>T |
single nucleotide variant |
not provided [RCV001581360] |
Chr11:1754884 [GRCh38] Chr11:1776114 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.969C>T (p.Gly323=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001306863] |
Chr11:1753997 [GRCh38] Chr11:1775227 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.205G>A (p.Glu69Lys) |
single nucleotide variant |
not specified [RCV004783420] |
Chr11:1761332 [GRCh38] Chr11:1782562 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_298501)_(4113028_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] |
Chr11:298501..4113028 [GRCh37] Chr11:11p15.5-15.4 |
uncertain significance |
NC_000011.9:g.(?_612625)_(2193840_?)dup |
duplication |
Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] |
Chr11:612625..2193840 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001296306] |
Chr11:1757442 [GRCh38] Chr11:1778672 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.843C>T (p.Ser281=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001397429] |
Chr11:1754123 [GRCh38] Chr11:1775353 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-6C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001371358] |
Chr11:1754144 [GRCh38] Chr11:1775374 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001294318] |
Chr11:1753865 [GRCh38] Chr11:1775095 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.827+73C>T |
single nucleotide variant |
not provided [RCV001527889] |
Chr11:1754833 [GRCh38] Chr11:1776063 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+6C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001344683] |
Chr11:1757318 [GRCh38] Chr11:1778548 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001364738] |
Chr11:1753606 [GRCh38] Chr11:1774836 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001321603] |
Chr11:1753892 [GRCh38] Chr11:1775122 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.127G>C (p.Val43Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001344763] |
Chr11:1761410 [GRCh38] Chr11:1782640 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001317804] |
Chr11:1753998 [GRCh38] Chr11:1775228 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV004594276]|Neuronal ceroid lipofuscinosis [RCV001371770] |
Chr11:1763844 [GRCh38] Chr11:1785074 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.976A>G (p.Met326Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001345158] |
Chr11:1753898 [GRCh38] Chr11:1775128 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001322328] |
Chr11:1753637 [GRCh38] Chr11:1774867 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001317968] |
Chr11:1753567 [GRCh38] Chr11:1774797 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001361963] |
Chr11:1754934 [GRCh38] Chr11:1776164 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.429C>T (p.Gly143=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001364262] |
Chr11:1759011 [GRCh38] Chr11:1780241 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.268del (p.Gln90fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001999994] |
Chr11:1759600 [GRCh38] Chr11:1780830 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NC_000011.9:g.(?_1774733)_(1785089_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001308450] |
Chr11:1774733..1785089 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.339G>A (p.Leu113=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001366440] |
Chr11:1759529 [GRCh38] Chr11:1780759 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.24G>C (p.Pro8=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001396233] |
Chr11:1763836 [GRCh38] Chr11:1785066 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 |
copy number gain |
See cases [RCV001310286] |
Chr11:10701..5080415 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001317334]|not provided [RCV001760388] |
Chr11:1753511 [GRCh38] Chr11:1774741 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001365687] |
Chr11:1757510 [GRCh38] Chr11:1778740 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001365795] |
Chr11:1753666 [GRCh38] Chr11:1774896 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001315368] |
Chr11:1753513 [GRCh38] Chr11:1774743 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.849G>A (p.Leu283=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001479005] |
Chr11:1754117 [GRCh38] Chr11:1775347 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1104C>T (p.Ser368=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001457209] |
Chr11:1753638 [GRCh38] Chr11:1774868 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.693C>T (p.Phe231=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001500543] |
Chr11:1757335 [GRCh38] Chr11:1778565 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.537T>C (p.Phe179=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001431220] |
Chr11:1757491 [GRCh38] Chr11:1778721 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-11C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001455034] |
Chr11:1757567 [GRCh38] Chr11:1778797 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.606C>G (p.Ala202=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001434489] |
Chr11:1757422 [GRCh38] Chr11:1778652 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.353-4G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001474492] |
Chr11:1759091 [GRCh38] Chr11:1780321 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.675C>T (p.Asp225=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001477934] |
Chr11:1757353 [GRCh38] Chr11:1778583 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.444C>T (p.Ser148=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001501274] |
Chr11:1758996 [GRCh38] Chr11:1780226 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.183C>T (p.Ala61=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001478516] |
Chr11:1761354 [GRCh38] Chr11:1782584 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.19C>T (p.Leu7=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001419396] |
Chr11:1763841 [GRCh38] Chr11:1785071 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.195G>T (p.Gly65=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001488659] |
Chr11:1761342 [GRCh38] Chr11:1782572 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1071+10C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001424812] |
Chr11:1753793 [GRCh38] Chr11:1775023 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.353-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001443864] |
Chr11:1759096 [GRCh38] Chr11:1780326 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.639C>T (p.Pro213=) |
single nucleotide variant |
CTSD-related disorder [RCV003930946]|Neuronal ceroid lipofuscinosis [RCV001449111] |
Chr11:1757389 [GRCh38] Chr11:1778619 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.651C>T (p.Asn217=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001446779] |
Chr11:1757377 [GRCh38] Chr11:1778607 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.54C>T (p.Ala18=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001407916] |
Chr11:1763806 [GRCh38] Chr11:1785036 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.726G>A (p.Gly242=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001409005] |
Chr11:1755007 [GRCh38] Chr11:1776237 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1083C>T (p.Ala361=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001448261] |
Chr11:1753659 [GRCh38] Chr11:1774889 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.753C>T (p.Asp251=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001448128] |
Chr11:1754980 [GRCh38] Chr11:1776210 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1008C>T (p.Pro336=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001435338] |
Chr11:1753866 [GRCh38] Chr11:1775096 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1047G>A (p.Leu349=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001436978] |
Chr11:1753827 [GRCh38] Chr11:1775057 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.352+9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001461185] |
Chr11:1759507 [GRCh38] Chr11:1780737 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-41G>C |
single nucleotide variant |
not provided [RCV001581729] |
Chr11:1753711 [GRCh38] Chr11:1774941 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.*288G>A |
single nucleotide variant |
not provided [RCV001582134] |
Chr11:1753215 [GRCh38] Chr11:1774445 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.1764065C>G |
single nucleotide variant |
not provided [RCV001653196] |
Chr11:1764065 [GRCh38] Chr11:1785295 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.771T>C (p.Gly257=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001476554] |
Chr11:1754962 [GRCh38] Chr11:1776192 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.918T>C (p.Asp306=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001470334] |
Chr11:1754048 [GRCh38] Chr11:1775278 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1170C>T (p.Ile390=) |
single nucleotide variant |
Inborn genetic diseases [RCV002329514]|Neuronal ceroid lipofuscinosis [RCV001452388] |
Chr11:1753572 [GRCh38] Chr11:1774802 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001497785] |
Chr11:1753911 [GRCh38] Chr11:1775141 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1065G>A (p.Thr355=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001478525] |
Chr11:1753809 [GRCh38] Chr11:1775039 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1140G>A (p.Gly380=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001477739] |
Chr11:1753602 [GRCh38] Chr11:1774832 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.204C>T (p.Pro68=) |
single nucleotide variant |
CTSD-related disorder [RCV003956062]|Neuronal ceroid lipofuscinosis [RCV001480472] |
Chr11:1761333 [GRCh38] Chr11:1782563 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.654G>A (p.Leu218=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368501]|Neuronal ceroid lipofuscinosis [RCV001489161] |
Chr11:1757374 [GRCh38] Chr11:1778604 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.904G>T (p.Val302Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002544146]|not provided [RCV001771580] |
Chr11:1754062 [GRCh38] Chr11:1775292 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.705-3T>G |
single nucleotide variant |
not provided [RCV001760499] |
Chr11:1755031 [GRCh38] Chr11:1776261 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.17_30dup (p.Leu11fs) |
duplication |
Neuronal ceroid lipofuscinosis 10 [RCV001780593] |
Chr11:1763829..1763830 [GRCh38] Chr11:1785059..1785060 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001914912] |
Chr11:1757454 [GRCh38] Chr11:1778684 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.260C>T (p.Thr87Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003289122]|Neuronal ceroid lipofuscinosis [RCV001863562] |
Chr11:1759608 [GRCh38] Chr11:1780838 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001948445] |
Chr11:1754134 [GRCh38] Chr11:1775364 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002005316] |
Chr11:1757420 [GRCh38] Chr11:1778650 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001908044] |
Chr11:1763838 [GRCh38] Chr11:1785068 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001892398] |
Chr11:1753988 [GRCh38] Chr11:1775218 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3 |
copy number gain |
not provided [RCV001827983] |
Chr11:1719815..2321109 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.161A>G (p.Lys54Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001928767] |
Chr11:1761376 [GRCh38] Chr11:1782606 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.353-7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001909402] |
Chr11:1759094 [GRCh38] Chr11:1780324 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.692_694del (p.Phe231del) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002024045] |
Chr11:1757334..1757336 [GRCh38] Chr11:1778564..1778566 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 |
copy number gain |
not provided [RCV001825269] |
Chr11:230615..5525355 [GRCh37] Chr11:11p15.5-15.4 |
not provided |
NM_001909.5(CTSD):c.228+1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002020530] |
Chr11:1761308 [GRCh38] Chr11:1782538 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001871094] |
Chr11:1759003 [GRCh38] Chr11:1780233 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001913765] |
Chr11:1757501 [GRCh38] Chr11:1778731 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002331544]|Neuronal ceroid lipofuscinosis [RCV001970290] |
Chr11:1759009 [GRCh38] Chr11:1780239 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001889815] |
Chr11:1759069 [GRCh38] Chr11:1780299 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001870883] |
Chr11:1757519 [GRCh38] Chr11:1778749 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.394G>A (p.Val132Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001987134] |
Chr11:1759046 [GRCh38] Chr11:1780276 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001946166] |
Chr11:1753808 [GRCh38] Chr11:1775038 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+4A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001911871] |
Chr11:1753990 [GRCh38] Chr11:1775220 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001881844] |
Chr11:1753594..1753595 [GRCh38] Chr11:1774824..1774825 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.313G>A (p.Val105Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002001309] |
Chr11:1759555 [GRCh38] Chr11:1780785 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.69-12C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001886875] |
Chr11:1761480 [GRCh38] Chr11:1782710 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.133G>A (p.Asp45Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002386783]|Neuronal ceroid lipofuscinosis [RCV001941489] |
Chr11:1761404 [GRCh38] Chr11:1782634 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.949del (p.Ala317fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002000048] |
Chr11:1754017 [GRCh38] Chr11:1775247 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001884994] |
Chr11:1759575 [GRCh38] Chr11:1780805 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.304A>C (p.Asn102His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001998284] |
Chr11:1759564 [GRCh38] Chr11:1780794 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1071+10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002014024] |
Chr11:1753793 [GRCh38] Chr11:1775023 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs) |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV002014199] |
Chr11:1753595..1753596 [GRCh38] Chr11:1774825..1774826 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001903138]|not specified [RCV004690163] |
Chr11:1759612 [GRCh38] Chr11:1780842 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.244G>T (p.Glu82Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001918223] |
Chr11:1759624 [GRCh38] Chr11:1780854 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del) |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV001876830] |
Chr11:1753535..1753537 [GRCh38] Chr11:1774765..1774767 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.571A>G (p.Ile191Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001954956] |
Chr11:1757457 [GRCh38] Chr11:1778687 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.423C>G (p.His141Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001901343] |
Chr11:1759017 [GRCh38] Chr11:1780247 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.152C>G (p.Pro51Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001958012] |
Chr11:1761385 [GRCh38] Chr11:1782615 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001974896] |
Chr11:1758995 [GRCh38] Chr11:1780225 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001934773] |
Chr11:1753661 [GRCh38] Chr11:1774891 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.380A>T (p.Lys127Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002012688] |
Chr11:1759060 [GRCh38] Chr11:1780290 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.616A>G (p.Ile206Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001959268] |
Chr11:1757412 [GRCh38] Chr11:1778642 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_1774733)_(1778806_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001884032] |
Chr11:1774733..1778806 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.908del (p.Gly303fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001979146] |
Chr11:1754058 [GRCh38] Chr11:1775288 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.228+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001980415] |
Chr11:1761308 [GRCh38] Chr11:1782538 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001954072] |
Chr11:1757526 [GRCh38] Chr11:1778756 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.639C>A (p.Pro213=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001904901] |
Chr11:1757389 [GRCh38] Chr11:1778619 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.14G>T (p.Ser5Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001924031] |
Chr11:1763846 [GRCh38] Chr11:1785076 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002019847] |
Chr11:1759579 [GRCh38] Chr11:1780809 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1080G>C (p.Gln360His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001998512] |
Chr11:1753662 [GRCh38] Chr11:1774892 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+4_972+5dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV002019756] |
Chr11:1753988..1753989 [GRCh38] Chr11:1775218..1775219 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.471+6T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002047388] |
Chr11:1758963 [GRCh38] Chr11:1780193 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.824_827+30del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002032208] |
Chr11:1754876..1754909 [GRCh38] Chr11:1776106..1776139 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.182C>T (p.Ala61Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001897586] |
Chr11:1761355 [GRCh38] Chr11:1782585 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+9C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002091897] |
Chr11:1753985 [GRCh38] Chr11:1775215 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1071+17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002167634] |
Chr11:1753786 [GRCh38] Chr11:1775016 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-11G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002168495] |
Chr11:1761479 [GRCh38] Chr11:1782709 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.189C>G (p.Thr63=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002071280] |
Chr11:1761348 [GRCh38] Chr11:1782578 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.300C>T (p.Ser100=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002146707] |
Chr11:1759568 [GRCh38] Chr11:1780798 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.229-20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002210078] |
Chr11:1759659 [GRCh38] Chr11:1780889 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-19A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002126711] |
Chr11:1757575 [GRCh38] Chr11:1778805 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+9G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002207245] |
Chr11:1757315 [GRCh38] Chr11:1778545 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.150C>T (p.Gly50=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002165667] |
Chr11:1761387 [GRCh38] Chr11:1782617 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.228+14C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002127558] |
Chr11:1761295 [GRCh38] Chr11:1782525 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.353-20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002088548] |
Chr11:1759107 [GRCh38] Chr11:1780337 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.717G>A (p.Ala239=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV002494182]|Neuronal ceroid lipofuscinosis [RCV002111273] |
Chr11:1755016 [GRCh38] Chr11:1776246 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.63C>G (p.Leu21=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002146202] |
Chr11:1763797 [GRCh38] Chr11:1785027 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.360C>T (p.His120=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002186016] |
Chr11:1759080 [GRCh38] Chr11:1780310 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.666G>A (p.Lys222=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002152951] |
Chr11:1757362 [GRCh38] Chr11:1778592 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+20G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002205172] |
Chr11:1754886 [GRCh38] Chr11:1776116 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.352+16T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002189753] |
Chr11:1759500 [GRCh38] Chr11:1780730 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.51C>T (p.Pro17=) |
single nucleotide variant |
Inborn genetic diseases [RCV002337340]|Neuronal ceroid lipofuscinosis [RCV002116546] |
Chr11:1763809 [GRCh38] Chr11:1785039 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.759G>A (p.Lys253=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002169167] |
Chr11:1754974 [GRCh38] Chr11:1776204 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.105C>T (p.Thr35=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002084970] |
Chr11:1761432 [GRCh38] Chr11:1782662 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+19C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002093560] |
Chr11:1754887 [GRCh38] Chr11:1776117 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.60G>A (p.Ala20=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002215048] |
Chr11:1763800 [GRCh38] Chr11:1785030 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.705-8C>T |
single nucleotide variant |
CTSD-related disorder [RCV003893180]|Neuronal ceroid lipofuscinosis [RCV002212189] |
Chr11:1755036 [GRCh38] Chr11:1776266 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+14G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002196385] |
Chr11:1753980 [GRCh38] Chr11:1775210 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-11G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002153785] |
Chr11:1753681 [GRCh38] Chr11:1774911 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.471+16G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002189661] |
Chr11:1758953 [GRCh38] Chr11:1780183 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.396G>A (p.Val132=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002129043] |
Chr11:1759044 [GRCh38] Chr11:1780274 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-5C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002115635] |
Chr11:1753675 [GRCh38] Chr11:1774905 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+14G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002195651] |
Chr11:1754892 [GRCh38] Chr11:1776122 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+14G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002207388] |
Chr11:1753980 [GRCh38] Chr11:1775210 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.352+10G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002213640] |
Chr11:1759506 [GRCh38] Chr11:1780736 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-16G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002203484] |
Chr11:1761484 [GRCh38] Chr11:1782714 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002099907] |
Chr11:1753679 [GRCh38] Chr11:1774909 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002158051] |
Chr11:1761479 [GRCh38] Chr11:1782709 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-7G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002184755] |
Chr11:1753677 [GRCh38] Chr11:1774907 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.375C>T (p.Ser125=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002156433] |
Chr11:1759065 [GRCh38] Chr11:1780295 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.229-12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002162025] |
Chr11:1759651 [GRCh38] Chr11:1780881 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+13G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002162026] |
Chr11:1757311 [GRCh38] Chr11:1778541 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.705-63_705-11del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002157651] |
Chr11:1755039..1755091 [GRCh38] Chr11:1776269..1776321 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1017A>G (p.Thr339=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002144185] |
Chr11:1753857 [GRCh38] Chr11:1775087 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1209G>A (p.Arg403=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002103599] |
Chr11:1753533 [GRCh38] Chr11:1774763 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+14_827+15delinsTT |
indel |
Neuronal ceroid lipofuscinosis [RCV002162023] |
Chr11:1754891..1754892 [GRCh38] Chr11:1776121..1776122 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+20G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002099189] |
Chr11:1754886 [GRCh38] Chr11:1776116 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.318C>T (p.Pro106=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002183118] |
Chr11:1759550 [GRCh38] Chr11:1780780 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.621C>T (p.Ser207=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002119787] |
Chr11:1757407 [GRCh38] Chr11:1778637 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.831G>A (p.Val277=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002098538] |
Chr11:1754135 [GRCh38] Chr11:1775365 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1077G>T (p.Ser359=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002138193] |
Chr11:1753665 [GRCh38] Chr11:1774895 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1146C>G (p.Leu382=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002178886] |
Chr11:1753596 [GRCh38] Chr11:1774826 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.68+19G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003112668] |
Chr11:1763773 [GRCh38] Chr11:1785003 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.9:g.(?_1278740)_(2906719_?)dup |
duplication |
Autosomal recessive DOPA responsive dystonia [RCV003113999] |
Chr11:1278740..2906719 [GRCh37] Chr11:11p15.5-15.4 |
uncertain significance |
NC_000011.9:g.(?_721044)_(3988932_?)dup |
duplication |
not provided [RCV003113442] |
Chr11:721044..3988932 [GRCh37] Chr11:11p15.5-15.4 |
uncertain significance |
NM_001909.5(CTSD):c.669G>A (p.Leu223=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003121217] |
Chr11:1757359 [GRCh38] Chr11:1778589 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.153del (p.Val52fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003118441] |
Chr11:1761384 [GRCh38] Chr11:1782614 [GRCh37] Chr11:11p15.5 |
pathogenic |
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del |
deletion |
Thalassemia, gamma-delta-beta [RCV000015529] |
Chr11:4999400..5279346 [GRCh38] Chr11:11p15.5-15.4 |
pathogenic |
NM_001909.5(CTSD):c.122G>T (p.Gly41Val) |
single nucleotide variant |
not provided [RCV002292046] |
Chr11:1761415 [GRCh38] Chr11:1782645 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 |
copy number gain |
See cases [RCV002286351] |
Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2 |
pathogenic |
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002297288] |
Chr11:1757535 [GRCh38] Chr11:1778765 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 |
copy number gain |
not provided [RCV002473945] |
Chr11:461373..2157956 [GRCh37] Chr11:11p15.5 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 |
copy number gain |
not provided [RCV002472435] |
Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002304833] |
Chr11:1759606 [GRCh38] Chr11:1780836 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.31C>T (p.Leu11Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002443349] |
Chr11:1763829 [GRCh38] Chr11:1785059 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.23C>T (p.Pro8Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002459648] |
Chr11:1763837 [GRCh38] Chr11:1785067 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.110C>T (p.Ser37Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002428929]|Neuronal ceroid lipofuscinosis [RCV003102113] |
Chr11:1761427 [GRCh38] Chr11:1782657 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.130G>A (p.Glu44Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004973416]|Neuronal ceroid lipofuscinosis [RCV002301543] |
Chr11:1761407 [GRCh38] Chr11:1782637 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.457C>A (p.Gln153Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002342183] |
Chr11:1758983 [GRCh38] Chr11:1780213 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.977T>A (p.Met326Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002376778] |
Chr11:1753897 [GRCh38] Chr11:1775127 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.704+5del |
deletion |
Inborn genetic diseases [RCV002378285] |
Chr11:1757319 [GRCh38] Chr11:1778549 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002301338] |
Chr11:1759062 [GRCh38] Chr11:1780292 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002968106] |
Chr11:1754966 [GRCh38] Chr11:1776196 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.832G>T (p.Glu278Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003013958] |
Chr11:1754134 [GRCh38] Chr11:1775364 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.705-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002750917] |
Chr11:1755035 [GRCh38] Chr11:1776265 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.670G>A (p.Val224Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002816476] |
Chr11:1757358 [GRCh38] Chr11:1778588 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003013128] |
Chr11:1761371 [GRCh38] Chr11:1782601 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.829G>T (p.Val277Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002995894] |
Chr11:1754137 [GRCh38] Chr11:1775367 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.725G>T (p.Gly242Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003016773] |
Chr11:1755008 [GRCh38] Chr11:1776238 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.353-10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002730670] |
Chr11:1759097 [GRCh38] Chr11:1780327 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.228+19C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002839142] |
Chr11:1761290 [GRCh38] Chr11:1782520 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002842668] |
Chr11:1761455 [GRCh38] Chr11:1782685 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.342C>T (p.Asp114=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002971767] |
Chr11:1759526 [GRCh38] Chr11:1780756 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.455G>C (p.Ser152Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002858757] |
Chr11:1758985 [GRCh38] Chr11:1780215 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002726261] |
Chr11:1753529 [GRCh38] Chr11:1774759 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.72C>G (p.Ile24Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002819493] |
Chr11:1761465 [GRCh38] Chr11:1782695 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.704+11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003034808] |
Chr11:1757313 [GRCh38] Chr11:1778543 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003076314] |
Chr11:1753687 [GRCh38] Chr11:1774917 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.914_947del (p.Val305fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002819548] |
Chr11:1754019..1754052 [GRCh38] Chr11:1775249..1775282 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.115G>A (p.Val39Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002755236] |
Chr11:1761422 [GRCh38] Chr11:1782652 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1072-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002696173] |
Chr11:1753678 [GRCh38] Chr11:1774908 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1068C>G (p.Leu356=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002695560] |
Chr11:1753806 [GRCh38] Chr11:1775036 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002706615] |
Chr11:1753623 [GRCh38] Chr11:1774853 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.756dup (p.Lys253fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV003039282] |
Chr11:1754976..1754977 [GRCh38] Chr11:1776206..1776207 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.97C>T (p.Arg33Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002620441] |
Chr11:1761440 [GRCh38] Chr11:1782670 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.472-16_472-15del |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV002923607] |
Chr11:1757571..1757572 [GRCh38] Chr11:1778801..1778802 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.94A>G (p.Ile32Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002621600] |
Chr11:1761443 [GRCh38] Chr11:1782673 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.68+18G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002885259] |
Chr11:1763774 [GRCh38] Chr11:1785004 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.952G>A (p.Val318Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002975750] |
Chr11:1754014 [GRCh38] Chr11:1775244 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.8C>G (p.Pro3Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002637046] |
Chr11:1763852 [GRCh38] Chr11:1785082 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.132G>C (p.Glu44Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002637139] |
Chr11:1761405 [GRCh38] Chr11:1782635 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.347C>T (p.Ala116Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002756799] |
Chr11:1759521 [GRCh38] Chr11:1780751 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.558A>C (p.Pro186=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003020197] |
Chr11:1757470 [GRCh38] Chr11:1778700 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1071+13_1072-57del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003053040] |
Chr11:1753727..1753790 [GRCh38] Chr11:1774957..1775020 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003020340] |
Chr11:1754048 [GRCh38] Chr11:1775278 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.255C>T (p.Ile85=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002927164] |
Chr11:1759613 [GRCh38] Chr11:1780843 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472G>A (p.Val158Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003018358] |
Chr11:1757556 [GRCh38] Chr11:1778786 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004978453]|Neuronal ceroid lipofuscinosis [RCV003002565] |
Chr11:1757520 [GRCh38] Chr11:1778750 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.169C>T (p.Gln57Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002824407] |
Chr11:1761368 [GRCh38] Chr11:1782598 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002979663] |
Chr11:1759033 [GRCh38] Chr11:1780263 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.627_628del (p.Asn209fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002866228] |
Chr11:1757400..1757401 [GRCh38] Chr11:1778630..1778631 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.906G>A (p.Val302=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002847334] |
Chr11:1754060 [GRCh38] Chr11:1775290 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002795330] |
Chr11:1753982 [GRCh38] Chr11:1775212 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+7G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002978994] |
Chr11:1757317 [GRCh38] Chr11:1778547 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002820406] |
Chr11:1754053..1754058 [GRCh38] Chr11:1775283..1775288 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.828-16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003019240] |
Chr11:1754154 [GRCh38] Chr11:1775384 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.555G>T (p.Gln185His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003035790] |
Chr11:1757473 [GRCh38] Chr11:1778703 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003019257] |
Chr11:1753862 [GRCh38] Chr11:1775092 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002979340] |
Chr11:1754103 [GRCh38] Chr11:1775333 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.845G>T (p.Gly282Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002592456] |
Chr11:1754121 [GRCh38] Chr11:1775351 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.671T>A (p.Val224Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003054754] |
Chr11:1757357 [GRCh38] Chr11:1778587 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.141T>C (p.Ile47=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002796887] |
Chr11:1761396 [GRCh38] Chr11:1782626 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003037809] |
Chr11:1759599 [GRCh38] Chr11:1780829 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.380A>G (p.Lys127Arg) |
single nucleotide variant |
not provided [RCV002510093] |
Chr11:1759060 [GRCh38] Chr11:1780290 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002569849] |
Chr11:1753613 [GRCh38] Chr11:1774843 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003057573] |
Chr11:1761326 [GRCh38] Chr11:1782556 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1052dup (p.Glu352fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV002805693] |
Chr11:1753821..1753822 [GRCh38] Chr11:1775051..1775052 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.573C>T (p.Ile191=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002624195] |
Chr11:1757455 [GRCh38] Chr11:1778685 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.98G>A (p.Arg33His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002918557] |
Chr11:1761439 [GRCh38] Chr11:1782669 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.658C>T (p.Gln220Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002829096] |
Chr11:1757370 [GRCh38] Chr11:1778600 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.756C>T (p.Ser252=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003059674] |
Chr11:1754977 [GRCh38] Chr11:1776207 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.768G>A (p.Lys256=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003056915] |
Chr11:1754965 [GRCh38] Chr11:1776195 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.228+17A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003057454] |
Chr11:1761292 [GRCh38] Chr11:1782522 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.717G>C (p.Ala239=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002643325] |
Chr11:1755016 [GRCh38] Chr11:1776246 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1218C>T (p.Phe406=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003084250] |
Chr11:1753524 [GRCh38] Chr11:1774754 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002594541] |
Chr11:1753538 [GRCh38] Chr11:1774768 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002918017] |
Chr11:1754115 [GRCh38] Chr11:1775345 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.229-12G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003082788] |
Chr11:1759651 [GRCh38] Chr11:1780881 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.228+7A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002801523] |
Chr11:1761302 [GRCh38] Chr11:1782532 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1125C>T (p.Ile375=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003003343] |
Chr11:1753617 [GRCh38] Chr11:1774847 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.84G>A (p.Lys28=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003081848] |
Chr11:1761453 [GRCh38] Chr11:1782683 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.550A>T (p.Lys184Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003022249] |
Chr11:1757478 [GRCh38] Chr11:1778708 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.384C>T (p.Ser128=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002623925] |
Chr11:1759056 [GRCh38] Chr11:1780286 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003042540] |
Chr11:1754050..1754058 [GRCh38] Chr11:1775280..1775288 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.496G>A (p.Ala166Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002850486] |
Chr11:1757532 [GRCh38] Chr11:1778762 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu) |
duplication |
Neuronal ceroid lipofuscinosis [RCV002982987] |
Chr11:1754130..1754131 [GRCh38] Chr11:1775360..1775361 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+7G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002875910] |
Chr11:1753987 [GRCh38] Chr11:1775217 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003039829] |
Chr11:1754132 [GRCh38] Chr11:1775362 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.115G>C (p.Val39Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002850932] |
Chr11:1761422 [GRCh38] Chr11:1782652 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.689_691del (p.Ser230del) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002573735] |
Chr11:1757337..1757339 [GRCh38] Chr11:1778567..1778569 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.733C>T (p.Leu245=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003024427] |
Chr11:1755000 [GRCh38] Chr11:1776230 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_001909.5(CTSD):c.827+19del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003024300] |
Chr11:1754887 [GRCh38] Chr11:1776117 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.780C>G (p.Ser260=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002830102] |
Chr11:1754953 [GRCh38] Chr11:1776183 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-17T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002894316] |
Chr11:1757573 [GRCh38] Chr11:1778803 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002765417] |
Chr11:1754146 [GRCh38] Chr11:1775376 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.657G>T (p.Met219Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003040191] |
Chr11:1757371 [GRCh38] Chr11:1778601 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003048109] |
Chr11:1761364 [GRCh38] Chr11:1782594 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.828-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003049421] |
Chr11:1754145 [GRCh38] Chr11:1775375 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.68+19G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002650151] |
Chr11:1763773 [GRCh38] Chr11:1785003 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.343A>G (p.Ile115Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002966627] |
Chr11:1759525 [GRCh38] Chr11:1780755 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.474G>C (p.Val158=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002834842] |
Chr11:1757554 [GRCh38] Chr11:1778784 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.952del (p.Val318fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003065238] |
Chr11:1754014 [GRCh38] Chr11:1775244 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.1071+16G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003046793] |
Chr11:1753787 [GRCh38] Chr11:1775017 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.276C>T (p.Phe92=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003030355] |
Chr11:1759592 [GRCh38] Chr11:1780822 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.68+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002895724] |
Chr11:1763791 [GRCh38] Chr11:1785021 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003063368] |
Chr11:1753568 [GRCh38] Chr11:1774798 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1072-15C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002600805] |
Chr11:1753685 [GRCh38] Chr11:1774915 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.708C>T (p.Asp236=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003088283] |
Chr11:1755025 [GRCh38] Chr11:1776255 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1182C>T (p.Tyr394=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003026897] |
Chr11:1753560 [GRCh38] Chr11:1774790 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1111A>G (p.Met371Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003088139] |
Chr11:1753631 [GRCh38] Chr11:1774861 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.355A>G (p.Ile119Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002857384] |
Chr11:1759085 [GRCh38] Chr11:1780315 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002628823] |
Chr11:1753996 [GRCh38] Chr11:1775226 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1161C>T (p.Asp387=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003088774] |
Chr11:1753581 [GRCh38] Chr11:1774811 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1206C>T (p.Asn402=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003089496] |
Chr11:1753536 [GRCh38] Chr11:1774766 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+5G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002631017] |
Chr11:1754901 [GRCh38] Chr11:1776131 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.1072-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002650169] |
Chr11:1753671 [GRCh38] Chr11:1774901 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+14G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002938572] |
Chr11:1753980 [GRCh38] Chr11:1775210 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1A>G (p.Met1Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003009126] |
Chr11:1763859 [GRCh38] Chr11:1785089 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003027283] |
Chr11:1754079 [GRCh38] Chr11:1775309 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.106A>G (p.Met36Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003031615] |
Chr11:1761431 [GRCh38] Chr11:1782661 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.468_469del (p.Ser157fs) |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV003086274] |
Chr11:1758971..1758972 [GRCh38] Chr11:1780201..1780202 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.828-3C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002807042] |
Chr11:1754141 [GRCh38] Chr11:1775371 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.204C>G (p.Pro68=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002721044] |
Chr11:1761333 [GRCh38] Chr11:1782563 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+18G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002857472] |
Chr11:1753976 [GRCh38] Chr11:1775206 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.507G>C (p.Leu169=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002810296] |
Chr11:1757521 [GRCh38] Chr11:1778751 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003065549] |
Chr11:1754889 [GRCh38] Chr11:1776119 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003067649]|not specified [RCV004690359] |
Chr11:1753810 [GRCh38] Chr11:1775040 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.645C>T (p.Phe215=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002635658] |
Chr11:1757383 [GRCh38] Chr11:1778613 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.984_985del (p.Pro328_Cys329insTer) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003066081] |
Chr11:1753889..1753890 [GRCh38] Chr11:1775119..1775120 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.1142del (p.Pro381fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003052231] |
Chr11:1753600 [GRCh38] Chr11:1774830 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.999C>T (p.Ser333=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003093760] |
Chr11:1753875 [GRCh38] Chr11:1775105 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002609842] |
Chr11:1753908 [GRCh38] Chr11:1775138 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003092923] |
Chr11:1753571 [GRCh38] Chr11:1774801 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.8C>A (p.Pro3His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002605426] |
Chr11:1763852 [GRCh38] Chr11:1785082 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.828-20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003066809] |
Chr11:1754158 [GRCh38] Chr11:1775388 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002604778] |
Chr11:1753508 [GRCh38] Chr11:1774738 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.828-19_828-18delinsCT |
indel |
Neuronal ceroid lipofuscinosis [RCV002612837] |
Chr11:1754156..1754157 [GRCh38] Chr11:1775386..1775387 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.229-18del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003071954] |
Chr11:1759657 [GRCh38] Chr11:1780887 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.68+16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003070291] |
Chr11:1763776 [GRCh38] Chr11:1785006 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.634C>T (p.Leu212=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002602988] |
Chr11:1757394 [GRCh38] Chr11:1778624 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1011G>A (p.Ala337=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003070991] |
Chr11:1753863 [GRCh38] Chr11:1775093 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.797G>A (p.Arg266His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002612589] |
Chr11:1754936 [GRCh38] Chr11:1776166 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 |
copy number gain |
not provided [RCV003484828] |
Chr11:192764..3362853 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 |
copy number gain |
Russell-Silver syndrome [RCV003444025] |
Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_001909.5(CTSD):c.1239G>A (p.Ter413=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648095] |
Chr11:1753503 [GRCh38] Chr11:1774733 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.353-14G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648298] |
Chr11:1759101 [GRCh38] Chr11:1780331 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1017A>T (p.Thr339=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648210] |
Chr11:1753857 [GRCh38] Chr11:1775087 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.675_704+1dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003648245] |
Chr11:1757322..1757323 [GRCh38] Chr11:1778552..1778553 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.696C>T (p.Tyr232=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648312] |
Chr11:1757332 [GRCh38] Chr11:1778562 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.894T>G (p.Thr298=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648315] |
Chr11:1754072 [GRCh38] Chr11:1775302 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-12G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648382] |
Chr11:1753913 [GRCh38] Chr11:1775143 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-15T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648412] |
Chr11:1753916 [GRCh38] Chr11:1775146 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.51del (p.Ala18fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003648528] |
Chr11:1763809 [GRCh38] Chr11:1785039 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.816C>T (p.Val272=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648455] |
Chr11:1754917 [GRCh38] Chr11:1776147 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-13T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648678] |
Chr11:1753914 [GRCh38] Chr11:1775144 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.114G>A (p.Glu38=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648588] |
Chr11:1761423 [GRCh38] Chr11:1782653 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1071+17G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648696] |
Chr11:1753786 [GRCh38] Chr11:1775016 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.307C>T (p.Leu103=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648850] |
Chr11:1759561 [GRCh38] Chr11:1780791 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-18T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648886] |
Chr11:1753919 [GRCh38] Chr11:1775149 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.353-8C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648896] |
Chr11:1759095 [GRCh38] Chr11:1780325 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.804C>T (p.Ala268=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647559] |
Chr11:1754929 [GRCh38] Chr11:1776159 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-12G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649057] |
Chr11:1753682 [GRCh38] Chr11:1774912 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-17del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003648574] |
Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5 |
benign |
NM_001909.5(CTSD):c.330C>T (p.Cys110=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648583] |
Chr11:1759538 [GRCh38] Chr11:1780768 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.717G>T (p.Ala239=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647740] |
Chr11:1755016 [GRCh38] Chr11:1776246 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.585C>T (p.Phe195=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648838] |
Chr11:1757443 [GRCh38] Chr11:1778673 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.873G>A (p.Glu291=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648749] |
Chr11:1754093 [GRCh38] Chr11:1775323 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1056G>A (p.Glu352=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648878] |
Chr11:1753818 [GRCh38] Chr11:1775048 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.12C>T (p.Ser4=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648799] |
Chr11:1763848 [GRCh38] Chr11:1785078 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648820] |
Chr11:1761469 [GRCh38] Chr11:1782699 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.909C>T (p.Gly303=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649025] |
Chr11:1754057 [GRCh38] Chr11:1775287 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-15A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648987] |
Chr11:1761483 [GRCh38] Chr11:1782713 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-9T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647534] |
Chr11:1754147 [GRCh38] Chr11:1775377 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.21G>C (p.Leu7=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648362] |
Chr11:1763839 [GRCh38] Chr11:1785069 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-19C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649130] |
Chr11:1761487 [GRCh38] Chr11:1782717 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.27C>T (p.Leu9=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649049] |
Chr11:1763833 [GRCh38] Chr11:1785063 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+15C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648473] |
Chr11:1753979 [GRCh38] Chr11:1775209 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1128G>C (p.Pro376=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648496] |
Chr11:1753614 [GRCh38] Chr11:1774844 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.795C>T (p.Thr265=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648321] |
Chr11:1754938 [GRCh38] Chr11:1776168 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1164C>T (p.Val388=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648381] |
Chr11:1753578 [GRCh38] Chr11:1774808 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+10T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648383] |
Chr11:1757314 [GRCh38] Chr11:1778544 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.168C>G (p.Ser56=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648417] |
Chr11:1761369 [GRCh38] Chr11:1782599 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.165C>T (p.Tyr55=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648515] |
Chr11:1761372 [GRCh38] Chr11:1782602 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+9G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649089] |
Chr11:1757315 [GRCh38] Chr11:1778545 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003825888] |
Chr11:1753681 [GRCh38] Chr11:1774911 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.507G>A (p.Leu169=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647328] |
Chr11:1757521 [GRCh38] Chr11:1778751 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.229-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003878297] |
Chr11:1759647 [GRCh38] Chr11:1780877 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.879T>A (p.Ile293=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648665] |
Chr11:1754087 [GRCh38] Chr11:1775317 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1188G>A (p.Val396=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648765] |
Chr11:1753554 [GRCh38] Chr11:1774784 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+10_972+15del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003648887] |
Chr11:1753979..1753984 [GRCh38] Chr11:1775209..1775214 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.594C>T (p.Ile198=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648899] |
Chr11:1757434 [GRCh38] Chr11:1778664 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.353-15T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648266] |
Chr11:1759102 [GRCh38] Chr11:1780332 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.177G>A (p.Val59=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647730] |
Chr11:1761360 [GRCh38] Chr11:1782590 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.498C>T (p.Ala166=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648682] |
Chr11:1757530 [GRCh38] Chr11:1778760 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.309G>T (p.Leu103=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648752] |
Chr11:1759559 [GRCh38] Chr11:1780789 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.267C>T (p.Pro89=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648102] |
Chr11:1759601 [GRCh38] Chr11:1780831 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648606] |
Chr11:1753993 [GRCh38] Chr11:1775223 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.705-15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003876831] |
Chr11:1755043 [GRCh38] Chr11:1776273 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.642C>T (p.Val214=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648213] |
Chr11:1757386 [GRCh38] Chr11:1778616 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.390C>T (p.Thr130=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648448] |
Chr11:1759050 [GRCh38] Chr11:1780280 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.718C>T (p.Gln240Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648452] |
Chr11:1755015 [GRCh38] Chr11:1776245 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.472-6C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648224] |
Chr11:1757562 [GRCh38] Chr11:1778792 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1194C>T (p.Asp398=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648236] |
Chr11:1753548 [GRCh38] Chr11:1774778 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647660] |
Chr11:1753979 [GRCh38] Chr11:1775209 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.243G>C (p.Gly81=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647668] |
Chr11:1759625 [GRCh38] Chr11:1780855 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.741G>C (p.Leu247=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648498] |
Chr11:1754992 [GRCh38] Chr11:1776222 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+19T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647710] |
Chr11:1757305 [GRCh38] Chr11:1778535 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.207G>A (p.Glu69=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648541] |
Chr11:1761330 [GRCh38] Chr11:1782560 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648369] |
Chr11:1757307 [GRCh38] Chr11:1778537 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.853del (p.Leu285fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003532380] |
Chr11:1754113 [GRCh38] Chr11:1775343 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.972+10_972+15dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003534057] |
Chr11:1753978..1753979 [GRCh38] Chr11:1775208..1775209 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1050C>T (p.Ser350=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534050] |
Chr11:1753824 [GRCh38] Chr11:1775054 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.775C>T (p.Leu259=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532411] |
Chr11:1754958 [GRCh38] Chr11:1776188 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1164C>G (p.Val388=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532414] |
Chr11:1753578 [GRCh38] Chr11:1774808 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.420C>T (p.Ile140=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532440] |
Chr11:1759020 [GRCh38] Chr11:1780250 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+17G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532469] |
Chr11:1754889 [GRCh38] Chr11:1776119 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.192G>A (p.Glu64=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534160] |
Chr11:1761345 [GRCh38] Chr11:1782575 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.728del (p.Gly243fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003532501] |
Chr11:1755005 [GRCh38] Chr11:1776235 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.654G>T (p.Leu218=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534198] |
Chr11:1757374 [GRCh38] Chr11:1778604 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532495] |
Chr11:1753910 [GRCh38] Chr11:1775140 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.996G>T (p.Val332=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534294] |
Chr11:1753878 [GRCh38] Chr11:1775108 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.495A>G (p.Ser165=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531493] |
Chr11:1757533 [GRCh38] Chr11:1778763 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.264C>T (p.Pro88=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531687] |
Chr11:1759604 [GRCh38] Chr11:1780834 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.228+8T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531701] |
Chr11:1761301 [GRCh38] Chr11:1782531 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.352+12A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531736] |
Chr11:1759504 [GRCh38] Chr11:1780734 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.828-2A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531821] |
Chr11:1754140 [GRCh38] Chr11:1775370 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.117T>C (p.Val39=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003851123] |
Chr11:1761420 [GRCh38] Chr11:1782650 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1011G>T (p.Ala337=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531863] |
Chr11:1753863 [GRCh38] Chr11:1775093 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.471+8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533969] |
Chr11:1758961 [GRCh38] Chr11:1780191 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533988] |
Chr11:1761486 [GRCh38] Chr11:1782716 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.885C>T (p.Asp295=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533959] |
Chr11:1754081 [GRCh38] Chr11:1775311 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.190G>T (p.Glu64Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533987] |
Chr11:1761347 [GRCh38] Chr11:1782577 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.471+17C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531563] |
Chr11:1758952 [GRCh38] Chr11:1780182 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1071+15G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534258] |
Chr11:1753788 [GRCh38] Chr11:1775018 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.972+13G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531833] |
Chr11:1753981 [GRCh38] Chr11:1775211 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-20A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531849] |
Chr11:1753921 [GRCh38] Chr11:1775151 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.267C>A (p.Pro89=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531412] |
Chr11:1759601 [GRCh38] Chr11:1780831 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.468G>A (p.Val156=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534108] |
Chr11:1758972 [GRCh38] Chr11:1780202 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1236C>T (p.Leu412=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531437] |
Chr11:1753506 [GRCh38] Chr11:1774736 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531478] |
Chr11:1753688 [GRCh38] Chr11:1774918 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1002C>T (p.Thr334=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531558] |
Chr11:1753872 [GRCh38] Chr11:1775102 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.489G>T (p.Ala163=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531717] |
Chr11:1757539 [GRCh38] Chr11:1778769 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.369C>T (p.Tyr123=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531743] |
Chr11:1759071 [GRCh38] Chr11:1780301 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.973-12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531810] |
Chr11:1753913 [GRCh38] Chr11:1775143 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.465dup (p.Val156fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV003531842] |
Chr11:1758974..1758975 [GRCh38] Chr11:1780204..1780205 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.1176C>A (p.Arg392=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531864] |
Chr11:1753566 [GRCh38] Chr11:1774796 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533943] |
Chr11:1757323 [GRCh38] Chr11:1778553 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.828-15C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534264] |
Chr11:1754153 [GRCh38] Chr11:1775383 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-14C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531499] |
Chr11:1761482 [GRCh38] Chr11:1782712 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1185T>C (p.Thr395=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533900] |
Chr11:1753557 [GRCh38] Chr11:1774787 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.888A>C (p.Thr296=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531417] |
Chr11:1754078 [GRCh38] Chr11:1775308 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1077G>C (p.Ser359=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534061] |
Chr11:1753665 [GRCh38] Chr11:1774895 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.15C>T (p.Ser5=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531559] |
Chr11:1763845 [GRCh38] Chr11:1785075 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.942C>T (p.Ala314=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531602] |
Chr11:1754024 [GRCh38] Chr11:1775254 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.261G>C (p.Thr87=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531875] |
Chr11:1759607 [GRCh38] Chr11:1780837 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.457C>T (p.Gln153Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003841168] |
Chr11:1758983 [GRCh38] Chr11:1780213 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.1071+16G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003858259] |
Chr11:1753787 [GRCh38] Chr11:1775017 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.672G>A (p.Val224=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003867327] |
Chr11:1757356 [GRCh38] Chr11:1778586 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.120G>A (p.Gly40=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003871951] |
Chr11:1761417 [GRCh38] Chr11:1782647 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.68+11_68+12del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003872176] |
Chr11:1763780..1763781 [GRCh38] Chr11:1785010..1785011 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-20G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003847919] |
Chr11:1757576 [GRCh38] Chr11:1778806 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1029A>G (p.Gly343=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003858175] |
Chr11:1753845 [GRCh38] Chr11:1775075 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.162G>A (p.Lys54=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003864098] |
Chr11:1761375 [GRCh38] Chr11:1782605 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.574G>T (p.Ala192Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004375043] |
Chr11:1757454 [GRCh38] Chr11:1778684 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.897C>A (p.Ser299=) |
single nucleotide variant |
CTSD-related disorder [RCV003901777] |
Chr11:1754069 [GRCh38] Chr11:1775299 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.713A>T (p.Asp238Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004375044] |
Chr11:1755020 [GRCh38] Chr11:1776250 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_216698)_(2906719_?)dup |
duplication |
Beckwith-Wiedemann syndrome [RCV004580105] |
Chr11:216698..2906719 [GRCh37] Chr11:11p15.5-15.4 |
uncertain significance |
NM_001909.5(CTSD):c.401A>G (p.Asn134Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004979337] |
Chr11:1759039 [GRCh38] Chr11:1780269 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.268C>T (p.Gln90Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 10 [RCV005046640] |
Chr11:1759600 [GRCh38] Chr11:1780830 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.1083del (p.Lys363fs) |
deletion |
Neuronal ceroid lipofuscinosis 10 [RCV005046639] |
Chr11:1753659 [GRCh38] Chr11:1774889 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.112G>A (p.Glu38Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004979338] |
Chr11:1761425 [GRCh38] Chr11:1782655 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.684C>T (p.Ile228=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005170653] |
Chr11:1757344 [GRCh38] Chr11:1778574 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.513T>C (p.Gly171=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005172305] |
Chr11:1757515 [GRCh38] Chr11:1778745 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1053A>G (p.Pro351=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005063906] |
Chr11:1753821 [GRCh38] Chr11:1775051 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.567C>G (p.Thr189=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005195398] |
Chr11:1757461 [GRCh38] Chr11:1778691 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.27C>A (p.Leu9=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005122817] |
Chr11:1763833 [GRCh38] Chr11:1785063 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.352+7C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005197680] |
Chr11:1759509 [GRCh38] Chr11:1780739 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.704+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005134091] |
Chr11:1757323 [GRCh38] Chr11:1778553 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.130del (p.Glu44fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV005123289] |
Chr11:1761407 [GRCh38] Chr11:1782637 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.1005G>A (p.Leu335=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005184950] |
Chr11:1753869 [GRCh38] Chr11:1775099 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+3G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005160461] |
Chr11:1754903 [GRCh38] Chr11:1776133 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_001909.5(CTSD):c.972+17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005075642] |
Chr11:1753977 [GRCh38] Chr11:1775207 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.636G>A (p.Leu212=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005129725] |
Chr11:1757392 [GRCh38] Chr11:1778622 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.471+9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005118402] |
Chr11:1758960 [GRCh38] Chr11:1780190 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-6T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005164372] |
Chr11:1753676 [GRCh38] Chr11:1774906 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.984C>T (p.Pro328=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005193629] |
Chr11:1753890 [GRCh38] Chr11:1775120 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-5T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005132685] |
Chr11:1757561 [GRCh38] Chr11:1778791 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.827+19C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005137812] |
Chr11:1754887 [GRCh38] Chr11:1776117 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.472-4G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005140542] |
Chr11:1757560 [GRCh38] Chr11:1778790 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1072-11G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005165482] |
Chr11:1753681 [GRCh38] Chr11:1774911 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1131A>C (p.Pro377=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005140793] |
Chr11:1753611 [GRCh38] Chr11:1774841 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.462C>T (p.Asp154=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005163923] |
Chr11:1758978 [GRCh38] Chr11:1780208 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1128G>T (p.Pro376=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005140098] |
Chr11:1753614 [GRCh38] Chr11:1774844 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.519dup (p.Val174fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV005139241] |
Chr11:1757508..1757509 [GRCh38] Chr11:1778738..1778739 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_001909.5(CTSD):c.973-14G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005079448] |
Chr11:1753915 [GRCh38] Chr11:1775145 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.600C>T (p.Gly200=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005131160] |
Chr11:1757428 [GRCh38] Chr11:1778658 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.228+20C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005123803] |
Chr11:1761289 [GRCh38] Chr11:1782519 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.168C>T (p.Ser56=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005123823] |
Chr11:1761369 [GRCh38] Chr11:1782599 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.337C>T (p.Leu113=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005126483] |
Chr11:1759531 [GRCh38] Chr11:1780761 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.129G>C (p.Val43=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005123290] |
Chr11:1761408 [GRCh38] Chr11:1782638 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.1086G>A (p.Gly362=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005125501] |
Chr11:1753656 [GRCh38] Chr11:1774886 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_001909.5(CTSD):c.69-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005127893] |
Chr11:1761470 [GRCh38] Chr11:1782700 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_001909.5(CTSD):c.195G>A (p.Gly65=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV005129300] |
Chr11:1761342 [GRCh38] Chr11:1782572 [GRCh37] Chr11:11p15.5 |
likely benign |