MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:153
Name:Achromatopsia 3
Definition:
Alternative IDs:OMIM:262300
ParentIDs:MESH:D003117
TreeNumbers:C10.597.751.941.256/C536129 |C11.270.151.500/C536129 |C11.966.256/C536129 |C23.888.592.763.941.256/C536129
Synonyms:ACHM1, FORMERLY |Achm3 |ACHM 3 |Achromatopsia with myopia |Pingelapese |Pingelapese Blindness |RMCH1, FORMERLY |ROD MONOCHROMACY 1, FORMERLY |ROD MONOCHROMATISM 1, FORMERLY |Total colorblindness with myopia
Slim Mappings:Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536129
MeSH: C536129
OMIM: 262300;
MSeqDR LSDB:  
Genes: CNGB3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011516Achromatopsia
3 HP:0000518Cataract
NAMDC:  Cataracts
4 HP:0007641Dyschromatopsia
5 HP:0011003High myopia
6 HP:0007811Horizontal pendular nystagmus
7 HP:0007803Monochromacy
8 HP:0000613Photophobia
9 HP:0001141Severe visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_019098.4(CNGB3):c.*1733T>C54714CNGB3Uncertain significancers970889903RCV001160380|RCV001160381; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758629987586299AG8:g.87586299A>G-
NM_019098.4(CNGB3):c.*1705A>C54714CNGB3Uncertain significancers982329960RCV001160382|RCV001160383; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758632787586327TG8:g.87586327T>G-
NM_019098.4(CNGB3):c.*1701C>T54714CNGB3Uncertain significancers886063154RCV000297130|RCV000398362; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758633187586331GANC_000008.10:g.87586331G>AClinGen:CA10631673C0152200 Achromatopsia;
NM_019098.4(CNGB3):c.*1654C>T54714CNGB3Uncertain significancers796676165RCV001162032|RCV001162033; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758637887586378GA8:g.87586378G>A-
NM_019098.4(CNGB3):c.*1639C>A54714CNGB3Benignrs990192RCV000356615|RCV000402102; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758639387586393GTNC_000008.10:g.87586393G>TClinGen:CA10625864C0152200 Achromatopsia;
NM_019098.4(CNGB3):c.*1638G>A54714CNGB3Benignrs28471019RCV000312215|RCV000366928; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758639487586394CTNC_000008.10:g.87586394C>TClinGen:CA10631677C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*1476T>A54714CNGB3Uncertain significancers914165933RCV001164045|RCV001164044; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758655687586556AT8:g.87586556A>T-
NM_019098.5(CNGB3):c.*1470G>C54714CNGB3Uncertain significancers568808064RCV000276887|RCV000313249; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758656287586562CGNC_000008.10:g.87586562C>GClinGen:CA10628353C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*1459C>T54714CNGB3Uncertain significancers192543896RCV000268759|RCV000363365; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758657387586573GANC_000008.10:g.87586573G>AClinGen:CA10631601C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*1431G>A54714CNGB3Uncertain significancers1337904740RCV001159141|RCV001159140; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758660187586601CT8:g.87586601C>T-
NM_019098.5(CNGB3):c.*1371G>T54714CNGB3Uncertain significancers372688369RCV000378267|RCV000328305; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758666187586661CANC_000008.10:g.87586661C>AClinGen:CA10625865C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*1368T>C54714CNGB3Uncertain significancers886063155RCV000324660|RCV000264854; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758666487586664AGNC_000008.10:g.87586664A>GClinGen:CA10631611C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*1303G>A54714CNGB3Benignrs17683284RCV000280351|RCV000379480; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758672987586729CTNC_000008.10:g.87586729C>TClinGen:CA10631678C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*1218C>T54714CNGB3Uncertain significancers1054383456RCV001160492|RCV001160493; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758681487586814GA8:g.87586814G>A-
NM_019098.5(CNGB3):c.*1183T>C54714CNGB3Uncertain significancers78927155RCV000375939|RCV000335315; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758684987586849AGNC_000008.10:g.87586849A>GClinGen:CA10625869C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*1143T>C54714CNGB3Uncertain significancers1821625317RCV001160494|RCV001160495; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758688987586889AG8:g.87586889A>G-
NM_019098.5(CNGB3):c.*1093C>T54714CNGB3Uncertain significancers886063156RCV000350006|RCV000281044; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758693987586939GANC_000008.10:g.87586939G>AClinGen:CA10631680C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*997A>G54714CNGB3Benign/Likely benignrs141428300RCV001162126|RCV001162127; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758703587587035TC8:g.87587035T>C-
NM_019098.5(CNGB3):c.*915G>C54714CNGB3Benignrs189446254RCV001162128|RCV001162129; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758711787587117CG8:g.87587117C>G-
NM_019098.5(CNGB3):c.*800C>G54714CNGB3Uncertain significancers1028298142RCV001162130|RCV001162131; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758723287587232GC8:g.87587232G>C-
NM_019098.5(CNGB3):c.*798A>C54714CNGB3Uncertain significancers886063157RCV000351306|RCV000399193; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758723487587234TGNC_000008.10:g.87587234T>GClinGen:CA10631612C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*778T>C54714CNGB3Benignrs16915859RCV000307150|RCV000366427; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758725487587254AGNC_000008.10:g.87587254A>GClinGen:CA10631615C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*737T>C54714CNGB3Uncertain significancers146999298RCV001164146|RCV001164147; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758729587587295AG8:g.87587295A>G-
NM_019098.5(CNGB3):c.*735A>G54714CNGB3Benignrs73269601RCV000271226|RCV000302975; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758729787587297TCNC_000008.10:g.87587297T>CClinGen:CA10631683C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*731C>T54714CNGB3Uncertain significancers886063158RCV000267694|RCV000357675; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758730187587301GANC_000008.10:g.87587301G>AClinGen:CA10628355C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*649A>G54714CNGB3Uncertain significancers778028865RCV001159238|RCV001159237; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758738387587383TC8:g.87587383T>C-
NM_019098.5(CNGB3):c.*621G>A54714CNGB3Likely benignrs116835980RCV000322621|RCV000372583; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758741187587411CTNC_000008.10:g.87587411C>TClinGen:CA10631686C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*570T>C54714CNGB3Uncertain significancers965656666RCV001159240|RCV001159239; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758746287587462AG8:g.87587462A>G-
NM_019098.5(CNGB3):c.*499G>C54714CNGB3Uncertain significancers540507221RCV001159241|RCV001159242; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758753387587533CG8:g.87587533C>G-
NM_019098.5(CNGB3):c.*435G>A54714CNGB3Uncertain significancers964834349RCV001160592|RCV001160593; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758759787587597CT8:g.87587597C>T-
NM_019098.5(CNGB3):c.*389A>C54714CNGB3Benignrs16915861RCV000259273|RCV000319178; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758764387587643TGNC_000008.10:g.87587643T>GClinGen:CA10628357C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*379T>G54714CNGB3Uncertain significancers188787381RCV000293703|RCV000374155; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758765387587653ACNC_000008.10:g.87587653A>CClinGen:CA10631616C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*293T>C54714CNGB3Uncertain significancers141717983RCV000348561|RCV000389094; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758773987587739AGNC_000008.10:g.87587739A>GClinGen:CA10631617C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*291T>A54714CNGB3Uncertain significancers1821640855RCV001162207|RCV001162208; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758774187587741AT8:g.87587741A>T-
NM_019098.5(CNGB3):c.*272G>T54714CNGB3Uncertain significancers1821641223RCV001162209|RCV001162210; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758776087587760CA8:g.87587760C>A-
NM_019098.5(CNGB3):c.*206G>A54714CNGB3Uncertain significancers886063159RCV000345303|RCV000295002; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758782687587826CTNC_000008.10:g.87587826C>TClinGen:CA10631703C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*183A>C54714CNGB3Uncertain significancers1199541859RCV001162212|RCV001162211; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758784987587849TG8:g.87587849T>G-
NM_019098.5(CNGB3):c.*125G>C54714CNGB3Conflicting interpretations of pathogenicityrs186370374RCV000310278|RCV000398127; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758790787587907CGNC_000008.10:g.87587907C>GClinGen:CA10628358C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*108C>T54714CNGB3Uncertain significancers1031324821RCV001164238|RCV001164237; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758792487587924GA8:g.87587924G>A-
NM_019098.5(CNGB3):c.*84C>T54714CNGB3Uncertain significancers372938106RCV000340724|RCV000399337; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758794887587948GANC_000008.10:g.87587948G>AClinGen:CA10625874C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*51C>T54714CNGB3Uncertain significancers189210452RCV000305713|RCV000360498; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758798187587981GANC_000008.10:g.87587981G>AClinGen:CA4799715C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.*29G>T54714CNGB3Uncertain significancers138432513RCV001159334|RCV001159335; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758800387588003CA8:g.87588003C>A-
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)54714CNGB3Uncertain significancers1821645749RCV001159336|RCV001159337; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758803987588039TG8:g.87588039T>G-
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)54714CNGB3Conflicting interpretations of pathogenicityrs142846289RCV000297206|RCV000608300|RCV000762525|RCV001833480|RCV000399992; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758804287588042GCNC_000008.10:g.87588042G>CClinGen:CA4799726C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)54714CNGB3Uncertain significancers375288585RCV001159338|RCV001159339; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758804387588043CT8:g.87588043C>T-
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)54714CNGB3Conflicting interpretations of pathogenicityrs186448979RCV000245417|RCV000885622|RCV001160703|RCV001160702|RCV001276120; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288758804787588047TG8:g.87588047T>GClinGen:CA233766CN169374 not specified;
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg)54714CNGB3Uncertain significancers753083465RCV000670701|RCV001245682|RCV001830448; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288758807987588079CT8:g.87588079C>T-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2359del (p.Ser787fs)54714CNGB3Pathogenicrs1554604525RCV000498194; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758810387588103CTC8:g.87588103_87588103delClinGen:CA645372853C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)54714CNGB3Uncertain significancers750535143RCV001160704|RCV001160705; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788758811287588112GA8:g.87588112G>A-
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)54714CNGB3Uncertain significancers758914061RCV000762526|RCV001559264|RCV001825510; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288758814787588149CCTTCNC_000008.10:g.87588149_87588151del-
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)54714CNGB3Conflicting interpretations of pathogenicityrs78239264RCV000261883|RCV000356702|RCV001034257; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288758815487588154CANC_000008.10:g.87588154C>AClinGen:CA4799753C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)54714CNGB3Uncertain significancers199570140RCV000671490; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758815787588158AAGTGG8:g.87588157_87588158insGTGG-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)54714CNGB3Benignrs3735972RCV000153049|RCV000331014|RCV000367023|RCV001275879|RCV001522470; NMedGen:CN169374|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288758819887588198TC8:g.87588198T>CClinGen:CA179899,UniProtKB:Q9NQW8#VAR_018112C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)54714CNGB3Conflicting interpretations of pathogenicityrs3735971RCV000277134|RCV000332145|RCV001239882; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720288758821487588214GANC_000008.10:g.87588214G>AClinGen:CA4799764,UniProtKB:Q9NQW8#VAR_025525C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.2221del (p.Asp741fs)54714CNGB3Pathogenicrs1554604552RCV000497669; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758824187588241TCTNC_000008.10:g.87588241delClinGen:CA645372854C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)54714CNGB3Benignrs3735970RCV000153053|RCV000287491|RCV000381879|RCV001275880|RCV001522471; NMedGen:CN169374|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288758824887588248TC8:g.87588248T>CClinGen:CA179904C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])54714CNGB3Conflicting interpretations of pathogenicityrs746549330RCV000762527|RCV001029857|RCV001275881|RCV001810484; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288758826387588283CTTTATCTTCATTTTCTTTTTGCNC_000008.10:g.87588282TGTTTATCTTCATTTTCTTTT[1]-
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)54714CNGB3Conflicting interpretations of pathogenicityrs112573107RCV000933583|RCV001162313|RCV001162312|RCV001276124; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288758830387588303TC8:g.87588303T>C-
NM_019098.5(CNGB3):c.1782-3723_2103+739del54714CNGB3Pathogenic-1RCV000497920; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759017887595203GCCCAGGCTGGAGTGCAGTGTTGTGATCTCGGCTCACTACAACCTTTGCCTCCCGGATTCAAGCAATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGNC_000008.10:g.87590194_87595219delClinGen:CA645372461C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2103+1G>A54714CNGB3Pathogenic/Likely pathogenicrs1554604767RCV000498602|RCV000505012; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|Human Phenotype Ontology:HP:0007638,Human Phenotype Ontology:HP:0007754,Human Phenotype Ontology:HP:0007798,Human Phenotype Ontology:HP:0007914,Human Phenotype Ontology:HP:0007919,Human Phen88759091687590916CT8:g.87590916C>TClinGen:CA371447155C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His)54714CNGB3Uncertain significancers770214046RCV000497376|RCV001066881|RCV001275882; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288759091787590917CG8:g.87590917C>GClinGen:CA4799812C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter)54714CNGB3Uncertain significancers1554604769RCV000670727; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759091987590919GA8:g.87590919G>A-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)54714CNGB3Uncertain significancers377730576RCV001162314|RCV001162315|RCV001247986|RCV001828576; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288759093387590933CT8:g.87590933C>T-
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)54714CNGB3Conflicting interpretations of pathogenicityrs192448853RCV000576598|RCV000893388; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288759093487590934GA8:g.87590934G>AClinGen:CA4799814C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2085del (p.Lys695fs)54714CNGB3Likely pathogenicrs1585942791RCV000824470|RCV001784457; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759093587590935GCG8:g.87590935_87590935del-
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter)54714CNGB3Likely pathogenicrs1554604775RCV000673243; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759101287591012CA8:g.87591012C>A-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer)54714CNGB3Likely pathogenicrs745557293RCV000409769; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759108387591083TATNC_000008.10:g.87591086delClinGen:CA4799839C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1929-2A>G54714CNGB3Likely pathogenicrs1057517388RCV000410908; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759109387591093TCNC_000008.10:g.87591093T>CClinGen:CA16041187C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1928+2T>C54714CNGB3Likely pathogenicrs1057517454RCV000411120; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759133287591332AGNC_000008.10:g.87591332A>GClinGen:CA16041188C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1908del (p.Ile637fs)54714CNGB3Pathogenic/Likely pathogenicrs1057516571RCV000410311|RCV001861370; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288759135487591354TCTNC_000008.10:g.87591355delClinGen:CA16041189C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)54714CNGB3Conflicting interpretations of pathogenicityrs139337746RCV000727616|RCV001164343|RCV001164344; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788759136487591364TCNC_000008.10:g.87591364T>C-
NM_019098.5(CNGB3):c.1833C>T (p.His611=)54714CNGB3Conflicting interpretations of pathogenicityrs368787128RCV000259449|RCV001272479|RCV001164346|RCV001164345; NMedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759142987591429GA8:g.87591429G>AClinGen:CA4799884CN169374 not specified;
NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu)54714CNGB3Likely pathogenicrs1554604833RCV000498407; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759143987591439AT8:g.87591439A>TClinGen:CA371447972C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)54714CNGB3Conflicting interpretations of pathogenicityrs143131185RCV000328479|RCV000383096|RCV001828363|RCV000980205; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288759144787591447ACNC_000008.10:g.87591447A>CClinGen:CA4799887C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1815del (p.Ala606fs)54714CNGB3Pathogenicrs1362472371RCV000498634|RCV001856917; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288759144787591447CACNC_000008.10:g.87591447delClinGen:CA582907218C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)54714CNGB3Pathogenicrs200805087RCV000504783|RCV000988076|RCV001222784|RCV001834626; NHuman Phenotype Ontology:HP:0000478,MONDO:MONDO:0005328,MedGen:C4316870|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288759145287591452GA8:g.87591452G>AClinGen:CA4799889C4316870 Abnormality of the eye;
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe)54714CNGB3Uncertain significancers1554604849RCV000598180|RCV000670705; NMONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288759147987591479GANC_000008.10:g.87591479G>AClinGen:CA371448044C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1782-2A>C54714CNGB3Likely pathogenicrs1554604851RCV000498067|RCV001856922; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288759148287591482TG8:g.87591482T>GClinGen:CA371448054C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1663-2660_1781+5516del54714CNGB3Pathogenic-1RCV000498844; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288761080587619099TCCAAAATCAAAATATCAGCAGGGCTGTGTTTCCTCTAAAGACTCCAGTGAAAAATCTTTTCTTGCCTCTTCCAGCTTCTAGTGCTGCCAGGCATTTCTTGGCTATGGCTTNC_000008.10:g.87610806_87619100delClinGen:CA645372462C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1781+10A>T54714CNGB3Benignrs7000747RCV000248063|RCV000284921|RCV000339899|RCV001516848|RCV001833279; NMedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288761631187616311TANC_000008.10:g.87616311T>AClinGen:CA4799905C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1781+1G>C54714CNGB3Pathogenicrs1375507464RCV000497312|RCV001073367|RCV001383605; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MOND88761632087616320CGNC_000008.10:g.87616320C>GClinGen:CA371448977C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1781+1G>A54714CNGB3Pathogenicrs1375507464RCV000498488; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288761632087616320CTNC_000008.10:g.87616320C>TClinGen:CA371448978C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1781+1del54714CNGB3Pathogenic/Likely pathogenicrs1554607546RCV000497830|RCV001046928|RCV001834595; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288761632087616320ACA8:g.87616320_87616320delClinGen:CA645372463C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1781+1G>T54714CNGB3Pathogenicrs1375507464RCV000999643; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788761632087616320CA8:g.87616320C>A-
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs)54714CNGB3Likely pathogenicrs1554607548RCV000673293; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288761632787616328TTC8:g.87616327_87616328insC-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)54714CNGB3Uncertain significancers1822365271RCV001159424|RCV001159423; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288761632987616329TC8:g.87616329T>C-
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro)54714CNGB3Likely pathogenicrs1554607553RCV000498094; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288761635187616351AGNC_000008.10:g.87616351A>GClinGen:CA371449042C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)54714CNGB3Uncertain significancers771889150RCV000286042|RCV000394996; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288761638887616388GCNC_000008.10:g.87616388G>CClinGen:CA4799918C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val)54714CNGB3Uncertain significancers1262707163RCV000497341|RCV000595133; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288761642987616429CA8:g.87616429C>AClinGen:CA371449204C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys)54714CNGB3Uncertain significancers749413012RCV000670529|RCV000678547|RCV001058379|RCV001272481; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288761643087616430CA8:g.87616430C>A-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1663-5T>G54714CNGB3Likely pathogenicrs964530890RCV000497512|RCV001856921; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288761644487616444AC8:g.87616444A>CClinGen:CA180349176C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1663-1205G>A54714CNGB3Pathogenicrs1000861056RCV000853551|RCV001270472; NMONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288761764487617644CT8:g.87617644C>T-
NM_019098.5(CNGB3):c.1663-2137C>T54714CNGB3Pathogenic/Likely pathogenicrs998703203RCV001027518|RCV000853552; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288761857687618576GA8:g.87618576G>A-
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter)54714CNGB3Pathogenicrs1554608319RCV000497503; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288762384387623843AT8:g.87623843A>TClinGen:CA371438547C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)54714CNGB3Benign/Likely benignrs35903042RCV000973424|RCV001159425|RCV001159426|RCV001272482; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288762385287623852GA8:g.87623852G>A-
NM_019098.5(CNGB3):c.1579-1G>A54714CNGB3Pathogenic/Likely pathogenicrs1057516504RCV000409806|RCV001199471|RCV001092878; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288762390087623900CTNC_000008.10:g.87623900C>TClinGen:CA16041190C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1579-2A>G54714CNGB3Pathogenicrs772725807RCV000497923|RCV001074857; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MOND88762390187623901TC8:g.87623901T>CClinGen:CA4799959C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1578+2C>G54714CNGB3Likely pathogenicrs1554609943RCV000673053; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288763820987638209GC8:g.87638209G>C-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1578+1G>A54714CNGB3Pathogenic/Likely pathogenicrs372006750RCV000169421|RCV000592120|RCV000724126; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288763821087638210CTNC_000008.10:g.87638210C>TClinGen:CA274290C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1578+1G>T54714CNGB3Pathogenicrs372006750RCV000498971|RCV001216527|RCV001829407; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288763821087638210CA8:g.87638210C>AClinGen:CA371441979C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs)54714CNGB3Pathogenicrs1554609946RCV000498088; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288763821987638220AAGTCG8:g.87638219_87638220insGTCGClinGen:CA645372464C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)54714CNGB3Conflicting interpretations of pathogenicityrs146062161RCV000336568|RCV000394987|RCV000487572|RCV001700999|RCV001833481; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288763825587638255TCNC_000008.10:g.87638255T>CClinGen:CA4799986C0152200 Achromatopsia;
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs)54714CNGB3Pathogenicrs1554609956RCV000497318; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288763825587638255TAC8:g.87638255_87638256insCClinGen:CA645372465C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)54714CNGB3Conflicting interpretations of pathogenicityrs150642676RCV000301489|RCV000356262|RCV001276129|RCV000931567; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288763825887638258CTNC_000008.10:g.87638258C>TClinGen:CA4799987C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1516del (p.Val506fs)54714CNGB3Pathogenicrs768735888RCV000498684; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288763827387638273ACANC_000008.10:g.87638274delClinGen:CA4799989C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)54714CNGB3Uncertain significancers751667290RCV001160800|RCV001160801|RCV001240796|RCV001828574; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288763827487638274CT8:g.87638274C>T-
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)54714CNGB3Conflicting interpretations of pathogenicityrs140286824RCV000308981|RCV001160803|RCV001276130|RCV001160802; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788763827987638279TC8:g.87638279T>CClinGen:CA4799993CN169374 not specified;
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu)54714CNGB3Uncertain significancers373679269RCV000311516|RCV000398277; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288763829187638291TC8:g.87638291T>CClinGen:CA10631707C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)54714CNGB3Pathogenicrs773381712RCV000497969|RCV001856916; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288763829687638296CACNC_000008.10:g.87638298delClinGen:CA4799997C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)54714CNGB3Conflicting interpretations of pathogenicityrs115246141RCV000480707|RCV000764781|RCV001276131; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288763829787638297AT8:g.87638297A>TClinGen:CA4799998CN169374 not specified;
NM_019098.5(CNGB3):c.1481-2A>C54714CNGB3Likely pathogenicrs1554609978RCV000668523; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288763831087638310TGNC_000008.10:g.87638310T>G-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1481-145A>C54714CNGB3Benign-1RCV001543741; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288763845387638453TG87638453-
NM_019098.5(CNGB3):c.1480+1G>A54714CNGB3Likely pathogenicrs1057516825RCV000412081|RCV001723969; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764114687641146CTNC_000008.10:g.87641146C>TClinGen:CA16041191C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter)54714CNGB3Pathogenicrs999921351RCV000498438; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764116787641167CTNC_000008.10:g.87641167C>TClinGen:CA180338188C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp)54714CNGB3Likely pathogenicrs373270306RCV000498512|RCV001856918; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764118087641180ACNC_000008.10:g.87641180A>CClinGen:CA180338213C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)54714CNGB3Pathogenicrs201320564RCV000498120|RCV000787572|RCV001073613|RCV001386012; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:00088764119587641195GANC_000008.10:g.87641195G>AClinGen:CA4800028C1849792 262300 Achromatopsia 3;
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs)54714CNGB3Pathogenicrs1554610279RCV000497434; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764119687641197CTGNC_000008.10:g.87641196_87641197delinsGClinGen:CA645372855C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter)54714CNGB3Pathogenicrs1554610284RCV000497367; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764120187641201GA8:g.87641201G>AClinGen:CA371443304C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)54714CNGB3Conflicting interpretations of pathogenicityrs35365413RCV000005538|RCV000378015|RCV000497748|RCV000881356|RCV001276134; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288764122287641222AC8:g.87641222A>CClinGen:CA340372,UniProtKB:Q9NQW8#VAR_047615,OMIM:605080.0006C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)54714CNGB3Benignrs35010099RCV000244737|RCV000498988|RCV001272738|RCV001162414|RCV000961874; NMedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720288764123087641230AGNC_000008.10:g.87641230A>GClinGen:CA4800036,UniProtKB:Q9NQW8#VAR_047614C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys)54714CNGB3Likely pathogenicrs35010099RCV000498368; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764123087641230AT8:g.87641230A>TClinGen:CA371443385C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)54714CNGB3Conflicting interpretations of pathogenicityrs141934736RCV000926379|RCV001162415|RCV001272740|RCV001162416; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788764125987641259GA8:g.87641259G>A-
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)54714CNGB3Pathogenic/Likely pathogenicrs1057516878RCV000410652|RCV001865267; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764126187641261CGC8:g.87641261_87641261delClinGen:CA16041192C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=)54714CNGB3Benignrs34839859RCV000254349|RCV000276714|RCV000370896|RCV001510372|RCV001833278; NMedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288764127187641271CTNC_000008.10:g.87641271C>TClinGen:CA4800044C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)54714CNGB3Conflicting interpretations of pathogenicityrs768959472RCV000941867|RCV001162417|RCV001162418|RCV001272741; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288764128087641280TA8:g.87641280T>A-
NM_019098.5(CNGB3):c.1320+4A>G54714CNGB3Likely pathogenicrs1026427970RCV000498797|RCV001379168; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764497687644976TCNC_000008.10:g.87644976T>CClinGen:CA180340702C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)54714CNGB3Pathogenicrs121918344RCV000005532|RCV001243215; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764499687644996GA8:g.87644996G>AClinGen:CA340371,UniProtKB:Q9NQW8#VAR_018111,OMIM:605080.0001C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs)54714CNGB3Pathogenicrs1554610655RCV000497919; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764500087645001AACANC_000008.10:g.87645001CA[1]ClinGen:CA645372466C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs)54714CNGB3Pathogenicrs776896038RCV000497416|RCV001834594|RCV001386013; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288764501487645015GGA8:g.87645014_87645015insAClinGen:CA4800086C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1285del (p.Ser429fs)54714CNGB3Pathogenic/Likely pathogenicrs776896038RCV000498570|RCV000504627; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|Human Phenotype Ontology:HP:0000478,MONDO:MONDO:0005328,MedGen:C431687088764501587645015GAG8:g.87645015_87645015delClinGen:CA461813787C4316870 Abnormality of the eye;
NM_019098.5(CNGB3):c.1260del (p.Ile420fs)54714CNGB3Likely pathogenicrs1057516866RCV000411676; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764504087645040CACNC_000008.10:g.87645041delClinGen:CA16041193C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter)54714CNGB3Pathogenicrs372302139RCV000498538|RCV000726742; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764504587645045CANC_000008.10:g.87645045C>AClinGen:CA4800090C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter)54714CNGB3Pathogenicrs1554610668RCV000497880; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764505787645057GA8:g.87645057G>AClinGen:CA371444294C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)54714CNGB3Uncertain significance-1RCV002052156; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764508687645086AG87645086-
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)54714CNGB3Conflicting interpretations of pathogenicityrs147876778RCV000132679|RCV000174144|RCV000435881|RCV000501136|RCV000597492|RCV000678546|RCV001164460; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN169374|Human Phenotype Ontology:HP:0000478,MONDO:MONDO:0005328,MedGen:C4316870|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|Human Phenotype Ontology:HP:000054788764509287645092CT8:g.87645092C>TClinGen:CA232853,UniProtKB:Q9NQW8#VAR_047613,ClinVar:424771C4316870 Abnormality of the eye;
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter)54714CNGB3Pathogenicrs775038513RCV000498976; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288764510687645106ACNC_000008.10:g.87645106A>CClinGen:CA371444510C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del)54714CNGB3Pathogenicrs765574129RCV000497792|RCV001199470; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288764510887645110TAACTNC_000008.10:g.87645109_87645111delClinGen:CA4800112C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1179-2A>T54714CNGB3Likely pathogenicrs1057517167RCV000412299|RCV001543496; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764512387645123TA8:g.87645123T>AClinGen:CA16041194C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1179-38T>C54714CNGB3Benignrs3735969RCV000249378|RCV001543742|RCV001725152; NMedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288764515987645159AGNC_000008.10:g.87645159A>GClinGen:CA4800123CN169374 not specified;
NM_019098.5(CNGB3):c.1178+9T>C54714CNGB3Conflicting interpretations of pathogenicityrs549858104RCV000970399|RCV001164461|RCV001272742|RCV001164462; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788765597087655970AG8:g.87655970A>G-
NM_019098.5(CNGB3):c.1178+5G>T54714CNGB3Pathogenicrs1823236444RCV001270471; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288765597487655974CA8:g.87655974C>A-
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)54714CNGB3Likely pathogenicrs1389959147RCV001353010; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288765598987655990CCG87655989-
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys)54714CNGB3Uncertain significancers886063160RCV000327065|RCV000363049|RCV001346392|RCV001828364; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288765599787655997TC8:g.87655997T>CClinGen:CA10631709C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)54714CNGB3Conflicting interpretations of pathogenicityrs397515360RCV000005535|RCV000081978|RCV000273066|RCV000328174|RCV000504902|RCV000504797|RCV000505026|RCV000778111|RCV000787571|RCV000787822; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MedGen:CN239312|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:000791088765600987656009AGANC_000008.10:g.87656009delClinGen:CA223548,OMIM:605080.0002C4316870 Abnormality of the eye;
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)54714CNGB3Pathogenic/Likely pathogenicrs786204762RCV000169624|RCV000255345|RCV001074476; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0088765603887656038CT8:g.87656038C>TClinGen:CA274480C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)54714CNGB3Pathogenic/Likely pathogenicrs764742792RCV000497762|RCV001216532|RCV001829406; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288765609487656094GANC_000008.10:g.87656094G>AClinGen:CA4800162C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1056-2A>G54714CNGB3Pathogenicrs1385347376RCV000498297; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288765610387656103TCNC_000008.10:g.87656103T>CClinGen:CA371446975C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1056-3C>G54714CNGB3Uncertain significancers1554611763RCV000497560; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288765610487656104GCNC_000008.10:g.87656104G>CClinGen:CA645372467C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)54714CNGB3Pathogenic/Likely pathogenicrs373862340RCV000169343|RCV000809121|RCV000761286|RCV001074313; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype88765689987656899CA8:g.87656899C>AClinGen:CA274198C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter)54714CNGB3Pathogenicrs1554611860RCV000498224; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288765689987656900CCA8:g.87656899_87656900insAClinGen:CA582917085C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.991-3T>G54714CNGB3Pathogenic/Likely pathogenicrs773372519RCV000169173|RCV000678548|RCV001036288|RCV001074271; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000, Orphanet:65|MedGen:CN517202|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP88765691787656917AC8:g.87656917A>CClinGen:CA274008C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)54714CNGB3Uncertain significancers1823317372RCV001164463|RCV001164464; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788766003087660030TC8:g.87660030T>C-
NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu)54714CNGB3Pathogenicrs1554612145RCV000498361; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288766009387660093GANC_000008.10:g.87660093G>AClinGen:CA371448272C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)54714CNGB3Benignrs13265557RCV000242961|RCV000286399|RCV000376272|RCV001272487|RCV001510548; NMedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288766010087660100TCNC_000008.10:g.87660100T>CClinGen:CA4800218,UniProtKB:Q9NQW8#VAR_024418C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)54714CNGB3Conflicting interpretations of pathogenicityrs144637286RCV000322833|RCV000372778|RCV001272747|RCV000762528; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288766010687660106CT8:g.87660106C>TClinGen:CA4800220C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.912C>T (p.Val304=)54714CNGB3Conflicting interpretations of pathogenicityrs117806701RCV000401931|RCV000892241|RCV001159529|RCV001159528|RCV001828257; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288766010787660107GA8:g.87660107G>AClinGen:CA4800221CN169374 not specified;
NM_019098.5(CNGB3):c.904-2A>T54714CNGB3Likely pathogenicrs1554612159RCV000498192|RCV001856920; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288766011787660117TANC_000008.10:g.87660117T>AClinGen:CA371448324C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.852+4010_903+1699dup54714CNGB3Pathogenic-1RCV001293009; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288766454087664541TTGACTGAAGGCCTAGGACATTACTGTACACTACTGTAGACTTTATAAACACTGTAGAGTTAGGCTACACTAAATTTATTTAACAATTTTTTCTTTAATAATAAAGTAAAC87664540-
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs)54714CNGB3Pathogenic/Likely pathogenicrs886063161RCV000278041|RCV000497907|RCV000821438; NMedGen:CN239340|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288766624787666257TTTGTAGAAGTANC_000008.10:g.87666247_87666257delinsAClinGen:CA10631620C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)54714CNGB3Benignrs4961206RCV000081979|RCV000373837|RCV000988077|RCV001522472|RCV001831882; NMedGen:CN169374|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288766625187666251TG8:g.87666251T>GClinGen:CA149053,UniProtKB:Q9NQW8#VAR_018110C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter)54714CNGB3Pathogenicrs1554612805RCV000498173; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288766626187666261GCNC_000008.10:g.87666261G>CClinGen:CA371448436C1849792 262300 Achromatopsia 3;
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs)54714CNGB3Pathogenicrs1554612806RCV000498794; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288766627087666270CGTTTG8:g.87666270_87666271insTTTGClinGen:CA645372468C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.852+55C>T54714CNGB3Benign-1RCV001543743|RCV001713000; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288767909887679098GA87679098-
NM_019098.5(CNGB3):c.852+1G>C54714CNGB3Pathogenicrs1201521544RCV000497635|RCV001210019; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288767915287679152CGNC_000008.10:g.87679152C>GClinGen:CA371449237C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.852+1G>T54714CNGB3Pathogenic/Likely pathogenicrs1201521544RCV000988078|RCV001858684; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288767915287679152CA8:g.87679152C>A-
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro)54714CNGB3Likely pathogenicrs1189928623RCV000497819|RCV001379169; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288767919987679199AG8:g.87679199A>GClinGen:CA371449337C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs)54714CNGB3Pathogenicrs1554613998RCV000497672; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288767921187679214AAGGTA8:g.87679211_87679214delClinGen:CA645372856C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)54714CNGB3Uncertain significancers886063162RCV000348660|RCV000293482; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788767923287679232AGNC_000008.10:g.87679232A>GClinGen:CA10628362C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter)54714CNGB3Pathogenicrs371318766RCV000497616; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288767924987679249GCNC_000008.10:g.87679249G>CClinGen:CA4800282C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)54714CNGB3Uncertain significancers150490913RCV000313538|RCV001220465|RCV000394090|RCV001828365; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288767926687679266CTNC_000008.10:g.87679266C>TClinGen:CA4800286C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.738C>T (p.Thr246=)54714CNGB3Conflicting interpretations of pathogenicityrs781628736RCV000345096|RCV000390143|RCV001489377; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720288767926787679267GANC_000008.10:g.87679267G>AClinGen:CA4800287C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)54714CNGB3Conflicting interpretations of pathogenicityrs138320784RCV001160908|RCV001162522|RCV001474218; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720288767928487679284CT8:g.87679284C>T-
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)54714CNGB3Conflicting interpretations of pathogenicityrs770816095RCV000941658|RCV001162524|RCV001162523|RCV001279841; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288767928587679285GA8:g.87679285G>A-
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs)54714CNGB3Pathogenicrs1554614024RCV000498260; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288767929987679303TAAAAAAAAAC8:g.87679299_87679300insAAAACClinGen:CA645372857C1849792 262300 Achromatopsia 3;
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs)54714CNGB3Pathogenicrs1554614022RCV000498622; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288767929987679299TAA8:g.87679299_87679300insAClinGen:CA645372858C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)54714CNGB3Benignrs6471482RCV000250693|RCV000364988|RCV000988079|RCV001522473|RCV001833281; NMedGen:CN169374|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288767930387679303AC8:g.87679303A>CClinGen:CA4800300,UniProtKB:Q9NQW8#VAR_018109C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter)54714CNGB3Pathogenicrs6471482RCV000498829; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288767930387679303AT8:g.87679303A>TClinGen:CA371449560C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr)54714CNGB3Uncertain significance-1RCV001526713; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288767930487679304CT87679304-
NM_019098.5(CNGB3):c.682dup (p.Ala228fs)54714CNGB3Pathogenicrs1554614038RCV000497518|RCV001851325; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288767932287679323GGCNC_000008.10:g.87679323dupClinGen:CA645372859C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)54714CNGB3Uncertain significancers202240228RCV001162525|RCV001164560; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288767932887679328GT8:g.87679328G>T-
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe)54714CNGB3Uncertain significancers373286939RCV000265676|RCV000302120|RCV000312509; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720288767933587679335GA8:g.87679335G>AClinGen:CA4800310C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)54714CNGB3Pathogenic/Likely pathogenicrs768345097RCV000169194|RCV001380985|RCV001831988; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288767935987679359GA8:g.87679359G>AClinGen:CA274029C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.644-1G>C54714CNGB3Pathogenic/Likely pathogenicrs201794629RCV000169108|RCV000814009|RCV001002980|RCV001535671; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382; Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH88767936287679362CG8:g.87679362C>GClinGen:CA273948C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.643+2T>C54714CNGB3Pathogenicrs1391492794RCV000498049; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768024587680245AGNC_000008.10:g.87680245A>GClinGen:CA371449686C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.643G>C (p.Asp215His)54714CNGB3Likely pathogenicrs1174949911RCV000498841; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768024787680247CG8:g.87680247C>GClinGen:CA371449692C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.624C>T (p.Asn208=)54714CNGB3Conflicting interpretations of pathogenicityrs144347980RCV000267952|RCV000361581|RCV000927857; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720288768026687680266GANC_000008.10:g.87680266G>AClinGen:CA4800336C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)54714CNGB3Benignrs16916632RCV000247338|RCV000316050|RCV000372970|RCV001522474|RCV001833280; NMedGen:CN169374|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288768028287680282CTNC_000008.10:g.87680282C>TClinGen:CA4800340,UniProtKB:Q9NQW8#VAR_025524C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)54714CNGB3Pathogenic/Likely pathogenicrs267606739RCV000005533|RCV001068378|RCV001074242|RCV001272489; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0088768028387680283GA8:g.87680283G>AClinGen:CA253441,OMIM:605080.0004C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys)54714CNGB3Benign/Likely benignrs114305748RCV000261965|RCV000319376|RCV001272490|RCV000947120; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288768029587680295CTNC_000008.10:g.87680295C>TClinGen:CA4800343,UniProtKB:Q9NQW8#VAR_047611C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.589_590del (p.Leu197fs)54714CNGB3Pathogenicrs1554614131RCV000498700; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768030087680301TAAT8:g.87680300_87680301delClinGen:CA645372852C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.567del (p.Trp189fs)54714CNGB3Likely pathogenicrs1057517052RCV000411187; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768032387680323ACANC_000008.10:g.87680324delClinGen:CA16041195C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs)54714CNGB3Likely pathogenicrs1057517053RCV000409215; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768033187680334AGCCTANC_000008.10:g.87680332_87680335delClinGen:CA16041196C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.494-2A>T54714CNGB3Pathogenicrs1554614157RCV000497528; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768039887680398TANC_000008.10:g.87680398T>AClinGen:CA371450015C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.494-11T>C54714CNGB3Benign/Likely benignrs543970676RCV000350722|RCV000389093|RCV001499322; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288768040787680407AGNC_000008.10:g.87680407A>GClinGen:CA4800372C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)54714CNGB3Uncertain significancers1456633980RCV001159642|RCV001159643; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788768319287683192GA8:g.87683192G>A-
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)54714CNGB3Conflicting interpretations of pathogenicityrs139207764RCV000498220|RCV000815424|RCV001002981|RCV001159644; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788768319887683198GA8:g.87683198G>AClinGen:CA4800394C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)54714CNGB3Uncertain significancers1823848358RCV001159645|RCV001159646; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768320587683205CA8:g.87683205C>A-
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)54714CNGB3Pathogenic/Likely pathogenicrs748993388RCV000411864|RCV001038514; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288768321887683219CCANC_000008.10:g.87683218_87683219insAClinGen:CA4800398C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs)54714CNGB3Likely pathogenicrs1554614402RCV000672942; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768321887683220CTTA8:g.87683219_87683220del-C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs)54714CNGB3Pathogenicrs1823849258RCV001270470; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768321987683220TTA8:g.87683219_87683220insA-
NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)54714CNGB3Pathogenic-1RCV001780519; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768321987683223TTTTTATTTTC87683219-
NM_019098.5(CNGB3):c.412del (p.Arg138fs)54714CNGB3Pathogenic/Likely pathogenicrs1057516791RCV000409440|RCV001861379; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288768325387683253CTC8:g.87683253_87683253delClinGen:CA16041197C1849792 262300 Achromatopsia 3;
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs)54714CNGB3Pathogenicrs1554614423RCV000497959; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768327187683272GCTCACCAGGANC_000008.10:g.87683271_87683272delinsTCACCAGGAClinGen:CA645372851C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)54714CNGB3Pathogenic/Likely pathogenicrs786204492RCV000169161|RCV001204119|RCV001826865; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN517202|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288768327487683274GA8:g.87683274G>AClinGen:CA274001C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)54714CNGB3Uncertain significancers758681401RCV001161025|RCV001161024; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288768327887683278AC8:g.87683278A>C-
NM_019098.5(CNGB3):c.354G>T (p.Pro118=)54714CNGB3Benign/Likely benignrs75858066RCV000242350|RCV000961891|RCV001161026|RCV001161027|RCV001272491; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288768331187683311CANC_000008.10:g.87683311C>AClinGen:CA4800414CN169374 not specified;
NM_019098.5(CNGB3):c.212-2527_338+2854del54714CNGB3Pathogenic-1RCV000497979; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288773590587741412TGCCCCTTTCAAGTTGTTCCTTCAGTGCAGCTGGTTTTCACCCAATCCTGAGAAAACATGTGAACAACCATCTAATAACAAAGCAAGAACTTTAAGCTAACTTGGGTCTATNC_000008.10:g.87735908_87741415delClinGen:CA645372469C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)54714CNGB3Uncertain significancers778184687RCV000309960|RCV000397541|RCV001090383; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288773876687738766GCNC_000008.10:g.87738766G>CClinGen:CA4800442C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)54714CNGB3Likely benignrs146688972RCV000905932|RCV001161028|RCV001161029|RCV001272753; NMedGen:CN517202|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288773877887738778CT8:g.87738778C>T-
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter)54714CNGB3Pathogenicrs1554618404RCV000498036; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288773879687738796GA8:g.87738796G>AClinGen:CA371455747C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs)54714CNGB3Pathogenicrs1554618413RCV000497501|RCV001851324; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288773881387738816AGTTGANC_000008.10:g.87738816_87738819delClinGen:CA645372470C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter)54714CNGB3Pathogenicrs1554618417RCV000497694; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288773883287738832GANC_000008.10:g.87738832G>AClinGen:CA371455919C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.257del (p.Pro86fs)54714CNGB3Pathogenicrs1554618420RCV000498659|RCV001865520; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288773884087738840AGANC_000008.10:g.87738842delClinGen:CA645372471C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs)54714CNGB3Likely pathogenicrs1057517434RCV000411501; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288773887687738877GGAGNC_000008.10:g.87738877AG[1]ClinGen:CA16041198C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.212-3T>C54714CNGB3Benign/Likely benignrs79126074RCV000306056|RCV000353793|RCV001272755|RCV000897140; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288773888887738888AGNC_000008.10:g.87738888A>GClinGen:CA4800457C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.211+13T>G54714CNGB3Benignrs66881636RCV000245103|RCV000274434|RCV000357426|RCV001513345; NMedGen:CN169374|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288775187087751870ACNC_000008.10:g.87751870A>CClinGen:CA4800497C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter)54714CNGB3Pathogenicrs1052078370RCV000498655|RCV001856919; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288775188687751886GA8:g.87751886G>AClinGen:CA371456648C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.190del (p.Glu64fs)54714CNGB3Pathogenicrs1554619292RCV000498146; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288775190487751904TCT8:g.87751904_87751904delClinGen:CA645372472C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn)54714CNGB3Uncertain significancers1410218983RCV001162610|RCV001162611|RCV001057922; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720288775192687751926CG8:g.87751926C>G-
NM_019098.5(CNGB3):c.163dup (p.Thr55fs)54714CNGB3Likely pathogenicrs1057516782RCV000409138; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288775193087751931GGTNC_000008.10:g.87751934dupClinGen:CA16041199C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.130-1G>T54714CNGB3Pathogenicrs1554619303RCV000498778; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288775196587751965CANC_000008.10:g.87751965C>AClinGen:CA371456817C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.129+2T>C54714CNGB3Pathogenicrs1554619498RCV000498029; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288775572587755725AGNC_000008.10:g.87755725A>GClinGen:CA371452660C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)54714CNGB3Pathogenic/Likely pathogenicrs786204498RCV000169174|RCV000596854|RCV001380986; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288775574487755744GANC_000008.10:g.87755744G>AClinGen:CA274009C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.95dup (p.His32fs)54714CNGB3Pathogenicrs1554619500RCV000497377; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288775576087755761GGTNC_000008.10:g.87755761dupClinGen:CA645372473C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)54714CNGB3Benign/Likely benignrs35807406RCV000086971|RCV000242664|RCV000388205|RCV000331894|RCV001826781; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:4938288775577687755776TC8:g.87755776T>CClinGen:CA228926,UniProtKB:Q9NQW8#VAR_047607C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)54714CNGB3Conflicting interpretations of pathogenicityrs150260103RCV000277976|RCV000325972|RCV001272756|RCV000900243; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0018852,MedGen:C0152200, Orphanet:49382|MedGen:CN51720288775581387755813CGNC_000008.10:g.87755813C>GClinGen:CA4800544C0152200 Achromatopsia;
NM_019098.5(CNGB3):c.31dup (p.Val11fs)54714CNGB3Pathogenicrs1554619509RCV000498531; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288775582487755825AACNC_000008.10:g.87755826dupClinGen:CA645372474C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.29dup (p.Val11fs)54714CNGB3Pathogenicrs1442286151RCV000497809|RCV001380987; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288775582687755827CCT8:g.87755826_87755827insTClinGen:CA583011766C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter)54714CNGB3Pathogenic/Likely pathogenicrs376711003RCV000411455|RCV001865256; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288775584587755845GT8:g.87755845G>TClinGen:CA4800549C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.3G>A (p.Met1Ile)54714CNGB3Likely pathogenicrs1554619513RCV000497678|RCV001851326; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288775585387755853CTNC_000008.10:g.87755853C>TClinGen:CA371452942C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)54714CNGB3Pathogenicrs1554619514RCV000498642; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:4938288775585487755854AG8:g.87755854A>GClinGen:CA371452944C1849792 262300 Achromatopsia 3;
NM_019098.5(CNGB3):c.-1G>A54714CNGB3Uncertain significancers1825379377RCV001164672|RCV001164671; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788775585687755856CT8:g.87755856C>T-
NM_019098.4(CNGB3):c.-32T>C54714CNGB3Uncertain significancers376141938RCV000290745|RCV000382884; NMONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82788775588787755887AGNC_000008.10:g.87755887A>GClinGen:CA4800558C0152200 Achromatopsia;
NM_019098.4(CNGB3):c.-36T>G54714CNGB3Benignrs7812496RCV000329394|RCV000376943|RCV001653741; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300, Orphanet:49382|MedGen:CN51720288775589187755891ACNC_000008.10:g.87755891A>CClinGen:CA4800560C0152200 Achromatopsia;
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