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Examples: macular degeneration, "royal disease", article fish eye, or clinvar "likely benign" "eye pigmentation"

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Formats accepted for variant, gene, transcript, position and region queries

dbSNP rs id (rsNNN...N)

Single Nucleotide Variants (SNVs): rs746753722, rs145236923, rs117260922, rs376932266, rs113488022, rs1421085

Insertions: rs361923, rs35104581

Deletions: rs66500630, rs66698963

HGVS DNA-level variants

SNVs: NM_017882.3(CLN6):c.679G>A, GALNT12:c.907G>A, SORL1:c.808G>A, BRAF:c.1799T>G, TP53:c.559G>A

FTO:c.46-43098T>C (or NM_001080432:c.46-43098T>C οr NM_001080432(FTO):c.46-43098T>C)

Insertions: SYNGR1:c.607_608insACA, BRCA1:c.69_70insA (Note: "SYNGR1:c.607_608ins3" is not accepted)

Deletions: BAIAP2L2:c.1322_1363del, FADS2:c.208-2713_208-2692del (Note: "NM_004006.1:c.1147_1149delGAG" is accepted but "NM_004006.1:c.1147_1149del3" is not)

Subtitutions: TYR:c.1205_1206delGAinsAT or TYR:c.1205_1206delinsAT

Duplications: BRCA1:c.64_65dupTT

HGVS single amino acid substitutions

CLN6 E227K or CLN6 Glu227Lys

GALNT12 D303N or GALNT12 p.Asp303Asn

TP53:R175L or NM_000546.5(TP53):R175L or NM_000546:R175L

BRAF:V600E or BRAF:p.V600E or BRAF:p.Val600Glu

BBS4:I354T or BBS4:p.Ile354Thr or NM_033028:I354T

NPPA:*152R, TP53:G187S, PIK3CA:H1047R

Note: We do not accept protein insertions, deletions or frameshift variants, since they usually cannot be mapped to one or a few alternative genomic variants. All protein variants are converted into genomic variants, and only those affecting a single codon are considered; therefore a single amino acid subscritution coming from alterations to more than one codon, or one that truncates the protein may not be mapped from your query to all possible genomic variants giving rise to it.