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Gene: LOC122152299 (Sharpr-MPRA regulatory region 7160) Homo sapiens

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Symbol:

LOC122152299

Name:

Sharpr-MPRA regulatory region 7160

RGD ID:

149736018

Description:

This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jul 2021]

Type:

biological-region

RefSeq Status:

REVIEWED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	217,554,847 - 217,555,141 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	1	217,728,189 - 217,728,483 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	1	q	NCBI
T2T-CHM13v2.0	1	216,796,164 - 216,796,458 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC122152299	Human	Usher syndrome		IAGP	RGD:13435444	8554872	ClinVar Annotator: match by term: Usher syndrome	ClinVar	PMID:28041643

PMID:27701403

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)	single nucleotide variant	FTL-related disorder [RCV004751285]\|Hereditary hyperferritinemia with congenital cataracts [RCV000395171]\|Hereditary hyperferritinemia with congenital cataracts [RCV003103735]\|Neuroferritinopathy [RCV000311515]\|not provided [RCV000861621]\|not specified [RCV003323416]\|sporadic abdominal aortic aneurysm [RCV000144502]	Chr19:48965836 [GRCh38] Chr19:49469093 [GRCh37] Chr19:19q13.33	likely pathogenic\|benign\|likely benign\|uncertain significance
NM_000146.4(FTL):c.163T>C (p.Leu55=)	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000370536]\|Hereditary hyperferritinemia with congenital cataracts [RCV000369896]\|Hereditary hyperferritinemia with congenital cataracts [RCV001516688]\|L-ferritin deficiency [RCV001701526]\|Neuroferritinopathy [RCV000315169]\|not provided [RCV000839535]\|not specified [RCV000146000]\|sporadic abdominal aortic aneurysm [RCV000144503]	Chr19:48965830 [GRCh38] Chr19:49469087 [GRCh37] Chr19:19q13.33	likely pathogenic\|benign
NM_000146.4(FTL):c.-182C>T	single nucleotide variant	not specified [RCV003479167]	Chr19:48965326 [GRCh38] Chr19:49468583 [GRCh37] Chr19:19q13.33	pathogenic\|uncertain significance
FTL, 1-BP INS, 460A	insertion	Neuroferritinopathy [RCV000017947]	Chr19:19q13.3-q13.4	pathogenic
NM_000146.4(FTL):c.498_499dup (p.Phe167fs)	microsatellite	Neuroferritinopathy [RCV000017951]	Chr19:48966701..48966702 [GRCh38] Chr19:49469958..49469959 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-160A>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000017938]\|Hereditary hyperferritinemia with congenital cataracts [RCV001061778]\|not provided [RCV002274882]	Chr19:48965348 [GRCh38] Chr19:49468605 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-159G>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000017939]	Chr19:48965349 [GRCh38] Chr19:49468606 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-168G>A	single nucleotide variant	FTL-related disorder [RCV004751214]\|Hereditary hyperferritinemia with congenital cataracts [RCV000017940]\|Hereditary hyperferritinemia with congenital cataracts [RCV001380757]\|not provided [RCV001723575]	Chr19:48965340 [GRCh38] Chr19:49468597 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.-189_-161del	deletion	Hereditary hyperferritinemia with congenital cataracts [RCV000017942]	Chr19:48965318..48965346 [GRCh38] Chr19:49468575..49468603 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-168G>T	single nucleotide variant	FTL-related disorder [RCV003398536]\|Hereditary hyperferritinemia with congenital cataracts [RCV000017943]\|Hereditary hyperferritinemia with congenital cataracts [RCV001386171]\|not provided [RCV001093251]	Chr19:48965340 [GRCh38] Chr19:49468597 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-161C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000017944]\|Hereditary hyperferritinemia with congenital cataracts [RCV001036071]\|Hereditary hyperferritinemia with congenital cataracts [RCV002482882]\|not provided [RCV004597729]	Chr19:48965347 [GRCh38] Chr19:49468604 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.-164C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000017945]\|Hereditary hyperferritinemia with congenital cataracts [RCV000817309]	Chr19:48965344 [GRCh38] Chr19:49468601 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.-149G>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000017946]\|Hereditary hyperferritinemia with congenital cataracts [RCV002482883]\|Hereditary hyperferritinemia with congenital cataracts [RCV003764586]	Chr19:48965359 [GRCh38] Chr19:49468616 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.-175_-170del	deletion	Hereditary hyperferritinemia with congenital cataracts [RCV000017948]	Chr19:48965330..48965335 [GRCh38] Chr19:49468587..49468592 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-168G>C	single nucleotide variant	FTL-related disorder [RCV004751215]\|Hereditary hyperferritinemia with congenital cataracts [RCV000017949]\|Hereditary hyperferritinemia with congenital cataracts [RCV002513089]\|not provided [RCV003231107]	Chr19:48965340 [GRCh38] Chr19:49468597 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.286G>A (p.Ala96Thr)	single nucleotide variant	Neuroferritinopathy [RCV000017950]	Chr19:48966317 [GRCh38] Chr19:49469574 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)	duplication	Hereditary hyperferritinemia with congenital cataracts [RCV005222690]\|Neuroferritinopathy [RCV000017952]	Chr19:48966675..48966676 [GRCh38] Chr19:49469932..49469933 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.458dup (p.His153fs)	duplication	Neuroferritinopathy [RCV000017953]	Chr19:48966664..48966665 [GRCh38] Chr19:49469921..49469922 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.89C>T (p.Thr30Ile)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000032783]	Chr19:48965596 [GRCh38] Chr19:49468853 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	copy number gain	See cases [RCV000052913]	Chr19:46658791..49050450 [GRCh38] Chr19:47162048..49553707 [GRCh37] Chr19:51853888..54245519 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	copy number gain	See cases [RCV000052914]	Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	copy number gain	See cases [RCV000052915]	Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43	pathogenic
NM_000146.4(FTL):c.1A>G (p.Met1Val)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001857397]\|L-ferritin deficiency [RCV000082857]\|not provided [RCV003884347]\|not specified [RCV004586545]	Chr19:48965508 [GRCh38] Chr19:49468765 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000146.4(FTL):c.310G>T (p.Glu104Ter)	single nucleotide variant	Inborn genetic diseases [RCV002513857]\|L-ferritin deficiency, autosomal recessive [RCV000082858]	Chr19:48966341 [GRCh38] Chr19:49469598 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-164C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000082859]	Chr19:48965344 [GRCh38] Chr19:49468601 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-46C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000405174]\|Hereditary hyperferritinemia with congenital cataracts [RCV001859952]\|Neuroferritinopathy [RCV000280711]	Chr19:48965462 [GRCh38] Chr19:49468719 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.522C>T (p.His174=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000271711]\|Hereditary hyperferritinemia with congenital cataracts [RCV000860900]\|Neuroferritinopathy [RCV000366284]\|not provided [RCV001200237]\|not specified [RCV001723916]	Chr19:48966729 [GRCh38] Chr19:49469986 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000146.4(FTL):c.*131A>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000283858]\|Neuroferritinopathy [RCV000378331]	Chr19:48966866 [GRCh38] Chr19:49470123 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.73C>T (p.Leu25=)	single nucleotide variant	FTL-related disorder [RCV003940317]\|Hereditary hyperferritinemia with congenital cataracts [RCV000395341]\|Hereditary hyperferritinemia with congenital cataracts [RCV002523072]\|Neuroferritinopathy [RCV000336294]\|not provided [RCV000861279]	Chr19:48965580 [GRCh38] Chr19:49468837 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000146.4(FTL):c.*24C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000323478]\|Neuroferritinopathy [RCV000268371]	Chr19:48966759 [GRCh38] Chr19:49470016 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000146.4(FTL):c.92A>G (p.Tyr31Cys)	single nucleotide variant	not provided [RCV000585013]	Chr19:48965599 [GRCh38] Chr19:49468856 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.250-6A>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001130968]\|Hereditary hyperferritinemia with congenital cataracts [RCV001453279]\|Neuroferritinopathy [RCV001130967]\|not provided [RCV000488041]	Chr19:48966275 [GRCh38] Chr19:49469532 [GRCh37] Chr19:19q13.33	benign\|likely benign\|uncertain significance
NM_002103.5(GYS1):c.*301G>A	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000304771]\|Hereditary hyperferritinemia with congenital cataracts [RCV000308508]\|Neuroferritinopathy [RCV000390061]	Chr19:48968987 [GRCh38] Chr19:49472244 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_002103.5(GYS1):c.*370A>C	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394546]\|Hereditary hyperferritinemia with congenital cataracts [RCV000312141]\|Neuroferritinopathy [RCV000366661]	Chr19:48968918 [GRCh38] Chr19:49472175 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_002103.5(GYS1):c.*868A>G	single nucleotide variant	FTL-related disorder [RCV003897755]\|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000351727]\|Hereditary hyperferritinemia with congenital cataracts [RCV000359249]\|Neuroferritinopathy [RCV000320960]	Chr19:48968420 [GRCh38] Chr19:49471677 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)	single nucleotide variant	GYS1-related disorder [RCV003950317]\|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000963024]\|Hereditary hyperferritinemia with congenital cataracts [RCV000359703]\|Neuroferritinopathy [RCV000323667]\|not provided [RCV003409562]\|not specified [RCV000417882]	Chr19:48969459 [GRCh38] Chr19:49472716 [GRCh37] Chr19:19q13.33	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_002103.5(GYS1):c.*659C>T	single nucleotide variant	FTL-related disorder [RCV003897756]\|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394568]\|Hereditary hyperferritinemia with congenital cataracts [RCV000384998]\|Neuroferritinopathy [RCV000328102]	Chr19:48968629 [GRCh38] Chr19:49471886 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000146.4(FTL):c.-92T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000339129]\|Hereditary hyperferritinemia with congenital cataracts [RCV003765907]\|Neuroferritinopathy [RCV000284053]	Chr19:48965416 [GRCh38] Chr19:49468673 [GRCh37] Chr19:19q13.33	uncertain significance
NM_002103.5(GYS1):c.*421A>G	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130379]\|Hereditary hyperferritinemia with congenital cataracts [RCV000394121]\|Neuroferritinopathy [RCV000351852]	Chr19:48968867 [GRCh38] Chr19:49472124 [GRCh37] Chr19:19q13.33	likely benign
NM_002103.5(GYS1):c.*908G>A	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000278073]\|Hereditary hyperferritinemia with congenital cataracts [RCV000263403]\|Neuroferritinopathy [RCV000355645]\|not provided [RCV001785575]	Chr19:48968380 [GRCh38] Chr19:49471637 [GRCh37] Chr19:19q13.33	likely benign
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000355806]\|Hereditary hyperferritinemia with congenital cataracts [RCV000264999]\|Neuroferritinopathy [RCV000319738]\|not provided [RCV001705495]	Chr19:48969489 [GRCh38] Chr19:49472746 [GRCh37] Chr19:19q13.33	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002103.5(GYS1):c.*841A>G	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000387720]\|Hereditary hyperferritinemia with congenital cataracts [RCV000266955]\|Neuroferritinopathy [RCV000324564]\|not provided [RCV001778920]	Chr19:48968447 [GRCh38] Chr19:49471704 [GRCh37] Chr19:19q13.33	likely benign
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)	single nucleotide variant	GYS1-related disorder [RCV004751472]\|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000303344]\|Hereditary hyperferritinemia with congenital cataracts [RCV000268611]\|Neuroferritinopathy [RCV000363216]	Chr19:48969295 [GRCh38] Chr19:49472552 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000146.4(FTL):c.370_373del (p.Pro124fs)	deletion	not provided [RCV000522692]	Chr19:48966400..48966403 [GRCh38] Chr19:49469657..49469660 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_002103.5(GYS1):c.*450G>A	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000344476]\|Hereditary hyperferritinemia with congenital cataracts [RCV000394131]\|Neuroferritinopathy [RCV000278136]\|not provided [RCV002051841]	Chr19:48968838 [GRCh38] Chr19:49472095 [GRCh37] Chr19:19q13.33	likely benign
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000276081]\|Hereditary hyperferritinemia with congenital cataracts [RCV000389587]\|Neuroferritinopathy [RCV000316270]\|not provided [RCV001706535]	Chr19:48969817 [GRCh38] Chr19:49473074 [GRCh37] Chr19:19q13.33	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002103.5(GYS1):c.1926G>A (p.Val642=)	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000373018]\|Hereditary hyperferritinemia with congenital cataracts [RCV000374442]\|Neuroferritinopathy [RCV000279916]\|not provided [RCV004703797]\|not specified [RCV000421901]	Chr19:48969576 [GRCh38] Chr19:49472833 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_002103.5(GYS1):c.*611C>T	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130377]\|Hereditary hyperferritinemia with congenital cataracts [RCV000281817]\|Neuroferritinopathy [RCV000336803]	Chr19:48968677 [GRCh38] Chr19:49471934 [GRCh37] Chr19:19q13.33	likely benign
NM_002103.5(GYS1):c.*725C>T	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000348400]\|Hereditary hyperferritinemia with congenital cataracts [RCV000381402]\|Neuroferritinopathy [RCV000289397]\|not provided [RCV001672557]	Chr19:48968563 [GRCh38] Chr19:49471820 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)	single nucleotide variant	GYS1-related disorder [RCV003940318]\|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000333417]\|Hereditary hyperferritinemia with congenital cataracts [RCV000386131]\|Neuroferritinopathy [RCV000291234]\|not provided [RCV001706536]	Chr19:48970958 [GRCh38] Chr19:49474215 [GRCh37] Chr19:19q13.33	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002103.5(GYS1):c.1749C>A (p.Ile583=)	single nucleotide variant	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000645191]\|Hereditary hyperferritinemia with congenital cataracts [RCV000350253]\|Neuroferritinopathy [RCV000295273]\|not provided [RCV004703913]\|not specified [RCV000424879]	Chr19:48970606 [GRCh38] Chr19:49473863 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_002103.5(GYS1):c.1113_1116del	deletion	Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000320078]\|Hereditary hyperferritinemia with congenital cataracts [RCV000400213]\|Neuroferritinopathy [RCV000298481]\|not provided [RCV001859953]	Chr19:48968172..48968175 [GRCh38] Chr19:49471429..49471432 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
GRCh37/hg19 19q13.33(chr19:49447713-49470073)x1	copy number loss	not provided [RCV000752724]	Chr19:49447713..49470073 [GRCh37] Chr19:19q13.33	benign
FTL, -182C-T AND -178T-G	single nucleotide variant	Hyperferritinemia cataract syndrome [RCV000017941]	Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.207G>A (p.Met69Ile)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002524039]\|not provided [RCV000493330]	Chr19:48965874 [GRCh38] Chr19:49469131 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.194G>A (p.Arg65His)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000641706]	Chr19:48965861 [GRCh38] Chr19:49469118 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_000146.4(FTL):c.254C>T (p.Pro85Leu)	single nucleotide variant	Inborn genetic diseases [RCV003281357]	Chr19:48966285 [GRCh38] Chr19:49469542 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_000146.4(FTL):c.96C>T (p.Leu32=)	single nucleotide variant	not provided [RCV000513104]	Chr19:48965603 [GRCh38] Chr19:49468860 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.436G>A (p.Gly146Ser)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005213367]\|not provided [RCV000658847]	Chr19:48966643 [GRCh38] Chr19:49469900 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.502G>T (p.Glu168Ter)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000685530]	Chr19:48966709 [GRCh38] Chr19:49469966 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.33(chr19:49389934-49477474)x1	copy number loss	not provided [RCV000752723]	Chr19:49389934..49477474 [GRCh37] Chr19:19q13.33	benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_000146.4(FTL):c.250-126G>A	single nucleotide variant	not provided [RCV001565852]	Chr19:48966155 [GRCh38] Chr19:49469412 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.103-14A>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001135292]\|Hereditary hyperferritinemia with congenital cataracts [RCV005213465]\|Neuroferritinopathy [RCV001135293]	Chr19:48965756 [GRCh38] Chr19:49469013 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000146.4(FTL):c.520C>T (p.His174Tyr)	single nucleotide variant	FTL-related disorder [RCV004751848]\|Hereditary hyperferritinemia with congenital cataracts [RCV002068707]\|Inborn genetic diseases [RCV002549620]	Chr19:48966727 [GRCh38] Chr19:49469984 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.249+3A>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001066371]	Chr19:48965919 [GRCh38] Chr19:49469176 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.87C>T (p.Tyr29=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001425532]	Chr19:48965594 [GRCh38] Chr19:49468851 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.376C>G (p.Leu126Val)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000811916]	Chr19:48966583 [GRCh38] Chr19:49469840 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.(?_48966261)_(48966755_?)del	deletion	Hereditary hyperferritinemia with congenital cataracts [RCV000816613]	Chr19:48966261..48966755 [GRCh38] Chr19:49469518..49470012 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.190G>A (p.Glu64Lys)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003768460]\|not provided [RCV003411724]\|not specified [RCV000784897]	Chr19:48965857 [GRCh38] Chr19:49469114 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	copy number gain	not provided [RCV000848800]	Chr19:48119589..49595956 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-86C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001133800]\|Neuroferritinopathy [RCV001133801]	Chr19:48965422 [GRCh38] Chr19:49468679 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.*76G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001133927]\|Neuroferritinopathy [RCV001133928]	Chr19:48966811 [GRCh38] Chr19:49470068 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-157G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000802043]	Chr19:48965351 [GRCh38] Chr19:49468608 [GRCh37] Chr19:19q13.33	pathogenic\|uncertain significance
NM_000146.4(FTL):c.103-14A>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001135291]\|Neuroferritinopathy [RCV001135290]	Chr19:48965756 [GRCh38] Chr19:49469013 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000146.4(FTL):c.181G>A (p.Glu61Lys)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001130255]\|Neuroferritinopathy [RCV001130256]	Chr19:48965848 [GRCh38] Chr19:49469105 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.232C>T (p.Leu78Phe)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001130258]\|Neuroferritinopathy [RCV001130257]	Chr19:48965899 [GRCh38] Chr19:49469156 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.324C>T (p.Asn108=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001130970]\|Neuroferritinopathy [RCV001130969]	Chr19:48966355 [GRCh38] Chr19:49469612 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	copy number gain	not provided [RCV001249294]	Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42	not provided
NM_000146.4(FTL):c.-167C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001238029]\|Hereditary hyperferritinemia with congenital cataracts [RCV002290654]	Chr19:48965341 [GRCh38] Chr19:49468598 [GRCh37] Chr19:19q13.33	pathogenic
NC_000019.10:g.48965095C>A	single nucleotide variant	FTL-related disorder [RCV003980818]\|not provided [RCV001639481]	Chr19:48965095 [GRCh38] Chr19:49468352 [GRCh37] Chr19:19q13.33	benign
NM_000146.4(FTL):c.12G>C (p.Gln4His)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001210349]	Chr19:48965519 [GRCh38] Chr19:49468776 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	copy number gain	not provided [RCV001007050]	Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42	pathogenic
NM_000146.4(FTL):c.234C>T (p.Leu78=)	single nucleotide variant	FTL-related disorder [RCV003898130]\|Hereditary hyperferritinemia with congenital cataracts [RCV001130965]\|Hereditary hyperferritinemia with congenital cataracts [RCV003769242]\|Neuroferritinopathy [RCV001130966]\|not provided [RCV004717753]	Chr19:48965901 [GRCh38] Chr19:49469158 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000146.4(FTL):c.466G>A (p.Gly156Ser)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001220297]	Chr19:48966673 [GRCh38] Chr19:49469930 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.302T>C (p.Met101Thr)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001234239]	Chr19:48966333 [GRCh38] Chr19:49469590 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-186C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001133797]\|Hereditary hyperferritinemia with congenital cataracts [RCV005225239]\|Neuroferritinopathy [RCV001133796]	Chr19:48965322 [GRCh38] Chr19:49468579 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.362G>A (p.Arg121His)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001130972]\|Hereditary hyperferritinemia with congenital cataracts [RCV003769243]\|Inborn genetic diseases [RCV004032287]\|Neuroferritinopathy [RCV001130971]\|not provided [RCV004809021]	Chr19:48966393 [GRCh38] Chr19:49469650 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000146.4(FTL):c.-173C>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001133799]\|Hereditary hyperferritinemia with congenital cataracts [RCV003769260]\|Neuroferritinopathy [RCV001133798]	Chr19:48965335 [GRCh38] Chr19:49468592 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	copy number gain	not provided [RCV001259944]	Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43	pathogenic
NM_000146.4(FTL):c.473C>T (p.Pro158Leu)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001317101]	Chr19:48966680 [GRCh38] Chr19:49469937 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.155T>G (p.Phe52Cys)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001871934]\|Inborn genetic diseases [RCV002548515]\|not provided [RCV001356574]	Chr19:48965822 [GRCh38] Chr19:49469079 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000146.4(FTL):c.-139C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001373431]	Chr19:48965369 [GRCh38] Chr19:49468626 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.261A>C (p.Glu87Asp)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001297871]	Chr19:48966292 [GRCh38] Chr19:49469549 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-166T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001360710]	Chr19:48965342 [GRCh38] Chr19:49468599 [GRCh37] Chr19:19q13.33	likely pathogenic\|uncertain significance
NM_000146.4(FTL):c.-148G>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001307245]	Chr19:48965360 [GRCh38] Chr19:49468617 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.178C>T (p.Arg60Cys)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001344579]	Chr19:48965845 [GRCh38] Chr19:49469102 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48966943G>A	single nucleotide variant	not provided [RCV001681567]	Chr19:48966943 [GRCh38] Chr19:49470200 [GRCh37] Chr19:19q13.33	benign
NM_000146.4(FTL):c.299C>T (p.Ala100Val)	single nucleotide variant	not provided [RCV001755077]	Chr19:48966330 [GRCh38] Chr19:49469587 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.172G>T (p.Glu58Ter)	single nucleotide variant	not provided [RCV001727109]	Chr19:48965839 [GRCh38] Chr19:49469096 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.-105A>G	single nucleotide variant	not provided [RCV004784629]	Chr19:48965403 [GRCh38] Chr19:49468660 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-150C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003094061]\|not provided [RCV002247206]	Chr19:48965358 [GRCh38] Chr19:49468615 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.143T>G (p.Val48Gly)	single nucleotide variant	not provided [RCV003237504]	Chr19:48965810 [GRCh38] Chr19:49469067 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)	microsatellite	Neuroferritinopathy [RCV001775440]	Chr19:48966683..48966684 [GRCh38] Chr19:49469940..49469941 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.358_375+6del	deletion	not provided [RCV001761267]	Chr19:48966388..48966411 [GRCh38] Chr19:49469645..49469668 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965159G>A	single nucleotide variant	not provided [RCV001733088]	Chr19:48965159 [GRCh38] Chr19:49468416 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.390G>C (p.Leu130=)	single nucleotide variant	not provided [RCV001815864]	Chr19:48966597 [GRCh38] Chr19:49469854 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-161C>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001779413]	Chr19:48965347 [GRCh38] Chr19:49468604 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.-161_-160del	deletion	not provided [RCV001758193]	Chr19:48965346..48965347 [GRCh38] Chr19:49468603..49468604 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.173dup (p.Lys59fs)	duplication	not specified [RCV001815120]	Chr19:48965839..48965840 [GRCh38] Chr19:49469096..49469097 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.139G>C (p.Gly47Arg)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002043850]	Chr19:48965806 [GRCh38] Chr19:49469063 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-153G>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002041353]	Chr19:48965355 [GRCh38] Chr19:49468612 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-190C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002044027]	Chr19:48965318 [GRCh38] Chr19:49468575 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.379T>C (p.Cys127Arg)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002045647]	Chr19:48966586 [GRCh38] Chr19:49469843 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.263A>G (p.Asp88Gly)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002045829]	Chr19:48966294 [GRCh38] Chr19:49469551 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001889722]	Chr19:48966730 [GRCh38] Chr19:49469987 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-196G>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002002954]	Chr19:48965312 [GRCh38] Chr19:49468569 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-193C>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002043898]	Chr19:48965315 [GRCh38] Chr19:49468572 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965277C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001914317]	Chr19:48965277 [GRCh38] Chr19:49468534 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965263G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001963403]	Chr19:48965263 [GRCh38] Chr19:49468520 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.17G>A (p.Arg6His)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002034992]	Chr19:48965524 [GRCh38] Chr19:49468781 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.139G>T (p.Gly47Cys)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002037375]	Chr19:48965806 [GRCh38] Chr19:49469063 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.113T>C (p.Phe38Ser)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002011379]	Chr19:48965780 [GRCh38] Chr19:49469037 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-184C>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001935441]	Chr19:48965324 [GRCh38] Chr19:49468581 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.124G>A (p.Asp42Asn)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001956619]	Chr19:48965791 [GRCh38] Chr19:49469048 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-177C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001921038]	Chr19:48965331 [GRCh38] Chr19:49468588 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.247A>G (p.Lys83Glu)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001922173]	Chr19:48965914 [GRCh38] Chr19:49469171 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.375+5G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002015970]	Chr19:48966411 [GRCh38] Chr19:49469668 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-170T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001935663]	Chr19:48965338 [GRCh38] Chr19:49468595 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.375+4C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001899072]	Chr19:48966410 [GRCh38] Chr19:49469667 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-189G>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002010817]	Chr19:48965319 [GRCh38] Chr19:49468576 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-134A>T	single nucleotide variant	FTL-related disorder [RCV003416589]\|Hereditary hyperferritinemia with congenital cataracts [RCV001918975]	Chr19:48965374 [GRCh38] Chr19:49468631 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.492G>T (p.Glu164Asp)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001955368]	Chr19:48966699 [GRCh38] Chr19:49469956 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-51dup	duplication	Hereditary hyperferritinemia with congenital cataracts [RCV001924854]	Chr19:48965456..48965457 [GRCh38] Chr19:49468713..49468714 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.218G>T (p.Arg73Leu)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002012367]	Chr19:48965885 [GRCh38] Chr19:49469142 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup	duplication	Developmental and epileptic encephalopathy, 12 [RCV001939968]\|not provided [RCV001916178]	Chr19:48618906..50921204 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.256G>C (p.Ala86Pro)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV001917897]	Chr19:48966287 [GRCh38] Chr19:49469544 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.42G>A (p.Glu14=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002190234]	Chr19:48965549 [GRCh38] Chr19:49468806 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-121C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002109488]\|not provided [RCV004763331]	Chr19:48965387 [GRCh38] Chr19:49468644 [GRCh37] Chr19:19q13.33	benign\|uncertain significance
NM_000146.4(FTL):c.102+14A>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002168292]	Chr19:48965623 [GRCh38] Chr19:49468880 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.249+9T>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002193066]	Chr19:48965925 [GRCh38] Chr19:49469182 [GRCh37] Chr19:19q13.33	likely benign
NC_000019.10:g.48965306del	deletion	Hereditary hyperferritinemia with congenital cataracts [RCV002076561]\|not provided [RCV005242183]	Chr19:48965303 [GRCh38] Chr19:49468560 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.311A>G (p.Glu104Gly)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003101327]\|not specified [RCV002247845]	Chr19:48966342 [GRCh38] Chr19:49469599 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.319C>T (p.Leu107=)	single nucleotide variant	FTL-related disorder [RCV004752162]\|Hereditary hyperferritinemia with congenital cataracts [RCV002104177]	Chr19:48966350 [GRCh38] Chr19:49469607 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.199C>T (p.Leu67=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002204153]	Chr19:48965866 [GRCh38] Chr19:49469123 [GRCh37] Chr19:19q13.33	likely benign
NC_000019.9:g.(?_49468350)_(49481434_?)del	deletion	Hereditary hyperferritinemia with congenital cataracts [RCV003119414]	Chr19:49468350..49481434 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.439_442dup (p.His148fs)	duplication	Neuroferritinopathy [RCV002269808]	Chr19:48966645..48966646 [GRCh38] Chr19:49469902..49469903 [GRCh37] Chr19:19q13.33	not provided
NM_000146.4(FTL):c.460dup (p.Arg154fs)	duplication	Hereditary hyperferritinemia with congenital cataracts [RCV003096106]\|Neuroferritinopathy [RCV002269810]	Chr19:48966666..48966667 [GRCh38] Chr19:49469923..49469924 [GRCh37] Chr19:19q13.33	pathogenic\|not provided
NM_000146.4(FTL):c.213C>A (p.Asn71Lys)	single nucleotide variant	not specified [RCV003236375]	Chr19:48965880 [GRCh38] Chr19:49469137 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.474G>A (p.Pro158=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003096107]\|Neuroferritinopathy [RCV002269811]	Chr19:48966681 [GRCh38] Chr19:49469938 [GRCh37] Chr19:19q13.33	likely benign\|not provided
NM_000146.4(FTL):c.442dup (p.His148fs)	duplication	Neuroferritinopathy [RCV002269809]	Chr19:48966647..48966648 [GRCh38] Chr19:49469904..49469905 [GRCh37] Chr19:19q13.33	not provided
NM_000146.4(FTL):c.-189G>C	single nucleotide variant	not provided [RCV002300975]	Chr19:48965319 [GRCh38] Chr19:49468576 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-24T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002512449]	Chr19:48965484 [GRCh38] Chr19:49468741 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-111C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002726207]	Chr19:48965397 [GRCh38] Chr19:49468654 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)	indel	Hereditary hyperferritinemia with congenital cataracts [RCV002903025]	Chr19:48966667..48966668 [GRCh38] Chr19:49469924..49469925 [GRCh37] Chr19:19q13.33	pathogenic
NM_000146.4(FTL):c.515_516del (p.Leu172fs)	microsatellite	Hereditary hyperferritinemia with congenital cataracts [RCV003014830]	Chr19:48966719..48966720 [GRCh38] Chr19:49469976..49469977 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965303C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003081481]	Chr19:48965303 [GRCh38] Chr19:49468560 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.272G>T (p.Gly91Val)	single nucleotide variant	Inborn genetic diseases [RCV002822402]	Chr19:48966303 [GRCh38] Chr19:49469560 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.285C>T (p.Asp95=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002912559]	Chr19:48966316 [GRCh38] Chr19:49469573 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-151A>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002637620]	Chr19:48965357 [GRCh38] Chr19:49468614 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002953072]	Chr19:48965578 [GRCh38] Chr19:49468835 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.501C>T (p.Phe167=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002644146]	Chr19:48966708 [GRCh38] Chr19:49469965 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-56G>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002645692]	Chr19:48965452 [GRCh38] Chr19:49468709 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-126C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003023245]	Chr19:48965382 [GRCh38] Chr19:49468639 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-153G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003041377]	Chr19:48965355 [GRCh38] Chr19:49468612 [GRCh37] Chr19:19q13.33	likely pathogenic\|uncertain significance
NM_000146.4(FTL):c.375+15C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002700532]	Chr19:48966421 [GRCh38] Chr19:49469678 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.430A>C (p.Lys144Gln)	single nucleotide variant	Inborn genetic diseases [RCV002893246]	Chr19:48966637 [GRCh38] Chr19:49469894 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.249+6T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003084145]	Chr19:48965922 [GRCh38] Chr19:49469179 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.375T>C (p.His125=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003084204]	Chr19:48966406 [GRCh38] Chr19:49469663 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.288C>T (p.Ala96=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002932095]	Chr19:48966319 [GRCh38] Chr19:49469576 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-9C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002890913]	Chr19:48965499 [GRCh38] Chr19:49468756 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.417G>A (p.Val139=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002627843]	Chr19:48966624 [GRCh38] Chr19:49469881 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-143G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002922086]	Chr19:48965365 [GRCh38] Chr19:49468622 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.463C>T (p.Leu155=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002581037]\|not provided [RCV005242259]	Chr19:48966670 [GRCh38] Chr19:49469927 [GRCh37] Chr19:19q13.33	likely benign
NC_000019.10:g.48965263G>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002899531]	Chr19:48965263 [GRCh38] Chr19:49468520 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002603118]	Chr19:48965856 [GRCh38] Chr19:49469113 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003092470]	Chr19:48966284 [GRCh38] Chr19:49469541 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV002586055]	Chr19:48966302 [GRCh38] Chr19:49469559 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.402C>A (p.Phe134Leu)	single nucleotide variant	not provided [RCV004781459]	Chr19:48966609 [GRCh38] Chr19:49469866 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.193C>T (p.Arg65Cys)	single nucleotide variant	not provided [RCV003222998]	Chr19:48965860 [GRCh38] Chr19:49469117 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.296C>G (p.Ala99Gly)	single nucleotide variant	Inborn genetic diseases [RCV003193850]	Chr19:48966327 [GRCh38] Chr19:49469584 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.320T>G (p.Leu107Arg)	single nucleotide variant	Inborn genetic diseases [RCV003369417]	Chr19:48966351 [GRCh38] Chr19:49469608 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.231T>G (p.Ala77=)	single nucleotide variant	not specified [RCV003479612]	Chr19:48965898 [GRCh38] Chr19:49469155 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-184C>T	single nucleotide variant	not provided [RCV003425315]	Chr19:48965324 [GRCh38] Chr19:49468581 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.361C>T (p.Arg121Cys)	single nucleotide variant	not provided [RCV003457041]	Chr19:48966392 [GRCh38] Chr19:49469649 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.248A>G (p.Lys83Arg)	single nucleotide variant	not provided [RCV003425317]	Chr19:48965915 [GRCh38] Chr19:49469172 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.93C>T (p.Tyr31=)	single nucleotide variant	not provided [RCV003425316]	Chr19:48965600 [GRCh38] Chr19:49468857 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965270G>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003794992]	Chr19:48965270 [GRCh38] Chr19:49468527 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003790615]	Chr19:48965896 [GRCh38] Chr19:49469153 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.156C>T (p.Phe52=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003794223]	Chr19:48965823 [GRCh38] Chr19:49469080 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.102G>A (p.Leu34=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003784608]	Chr19:48965609 [GRCh38] Chr19:49468866 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-10C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003804652]	Chr19:48965498 [GRCh38] Chr19:49468755 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003806687]	Chr19:48966598 [GRCh38] Chr19:49469855 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003806835]	Chr19:48966695 [GRCh38] Chr19:49469952 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-186C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003788005]	Chr19:48965322 [GRCh38] Chr19:49468579 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965301dup	duplication	Hereditary hyperferritinemia with congenital cataracts [RCV003804266]	Chr19:48965300..48965301 [GRCh38] Chr19:49468557..49468558 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.102+20C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003787006]	Chr19:48965629 [GRCh38] Chr19:49468886 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.376-11T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003788939]	Chr19:48966572 [GRCh38] Chr19:49469829 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-95C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003787610]	Chr19:48965413 [GRCh38] Chr19:49468670 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965305C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003783053]	Chr19:48965305 [GRCh38] Chr19:49468562 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-144A>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003786919]	Chr19:48965364 [GRCh38] Chr19:49468621 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-181G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003798192]	Chr19:48965327 [GRCh38] Chr19:49468584 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.249+4A>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003798728]	Chr19:48965920 [GRCh38] Chr19:49469177 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.376-15C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003798661]\|not specified [RCV003994588]	Chr19:48966568 [GRCh38] Chr19:49469825 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-17CTT[1]	microsatellite	not specified [RCV003994905]	Chr19:48965491..48965493 [GRCh38] Chr19:49468748..49468750 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-179G>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003803760]	Chr19:48965329 [GRCh38] Chr19:49468586 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.336G>A (p.Leu112=)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV003803476]	Chr19:48966367 [GRCh38] Chr19:49469624 [GRCh37] Chr19:19q13.33	likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	copy number gain	not specified [RCV003986127]	Chr19:48905537..51614930 [GRCh37] Chr19:19q13.33-13.41	likely pathogenic
NC_000019.10:g.48968921G>A	single nucleotide variant	FTL-related disorder [RCV003896327]	Chr19:48968921 [GRCh38] Chr19:49472178 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.47C>T (p.Ala16Val)	single nucleotide variant	not specified [RCV003994900]	Chr19:48965554 [GRCh38] Chr19:49468811 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.48C>G (p.Ala16=)	single nucleotide variant	FTL-related disorder [RCV003936890]\|Hereditary hyperferritinemia with congenital cataracts [RCV005216153]	Chr19:48965555 [GRCh38] Chr19:49468812 [GRCh37] Chr19:19q13.33	likely benign
NC_000019.10:g.48968167G>C	single nucleotide variant	FTL-related disorder [RCV003967199]	Chr19:48968167 [GRCh38] Chr19:49471424 [GRCh37] Chr19:19q13.33	benign
NM_000146.4(FTL):c.290T>C (p.Met97Thr)	single nucleotide variant	Inborn genetic diseases [RCV004387217]	Chr19:48966321 [GRCh38] Chr19:49469578 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.335T>C (p.Leu112Ser)	single nucleotide variant	not provided [RCV004697631]	Chr19:48966366 [GRCh38] Chr19:49469623 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.388del (p.Leu130fs)	deletion	not provided [RCV004760144]		uncertain significance
NM_000146.4(FTL):c.-144A>G	single nucleotide variant	not provided [RCV004771844]	Chr19:48965364 [GRCh38] Chr19:49468621 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48968927C>T	single nucleotide variant	FTL-related disorder [RCV004752445]	Chr19:48968927 [GRCh38] Chr19:49472184 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.166G>C (p.Ala56Pro)	single nucleotide variant	Inborn genetic diseases [RCV004980246]	Chr19:48965833 [GRCh38] Chr19:49469090 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.38T>G (p.Val13Gly)	single nucleotide variant	Inborn genetic diseases [RCV004983595]	Chr19:48965545 [GRCh38] Chr19:49468802 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.272G>A (p.Gly91Asp)	single nucleotide variant	Inborn genetic diseases [RCV004980247]	Chr19:48966303 [GRCh38] Chr19:49469560 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-125C>A	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005210266]	Chr19:48965383 [GRCh38] Chr19:49468640 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.10:g.48965260T>G	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005228835]	Chr19:48965260 [GRCh38] Chr19:49468517 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.249+8G>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005214139]	Chr19:48965924 [GRCh38] Chr19:49469181 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-155T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005212832]	Chr19:48965353 [GRCh38] Chr19:49468610 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.80C>A (p.Ala27Asp)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005225001]	Chr19:48965587 [GRCh38] Chr19:49468844 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.250-12C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005228631]	Chr19:48966269 [GRCh38] Chr19:49469526 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.103-4G>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005217207]	Chr19:48965766 [GRCh38] Chr19:49469023 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.250-7T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005221904]	Chr19:48966274 [GRCh38] Chr19:49469531 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.-120T>C	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005224224]	Chr19:48965388 [GRCh38] Chr19:49468645 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.242A>G (p.Asp81Gly)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005216698]	Chr19:48965909 [GRCh38] Chr19:49469166 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.251A>G (p.Lys84Arg)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005218880]	Chr19:48966282 [GRCh38] Chr19:49469539 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.-167_-153del	deletion	Hereditary hyperferritinemia with congenital cataracts [RCV005221414]	Chr19:48965338..48965352 [GRCh38] Chr19:49468595..49468609 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.375+15C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005224327]	Chr19:48966421 [GRCh38] Chr19:49469678 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.375+8C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005219550]	Chr19:48966414 [GRCh38] Chr19:49469671 [GRCh37] Chr19:19q13.33	likely benign
NM_000146.4(FTL):c.47C>A (p.Ala16Asp)	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV005219943]	Chr19:48965554 [GRCh38] Chr19:49468811 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000146.4(FTL):c.*8C>T	single nucleotide variant	Hereditary hyperferritinemia with congenital cataracts [RCV000327111]\|Neuroferritinopathy [RCV000145999]	Chr19:48966743 [GRCh38] Chr19:49470000 [GRCh37] Chr19:19q13.33	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance

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RefSeq Transcripts	NG_076573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL354659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
COSMIC	LOC122152299	COSMIC
GTEx	LOC122152299	GTEx
Human Proteome Map	LOC122152299	Human Proteome Map
NCBI Gene	LOC122152299	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar