RDH11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 2543043	NM_016026.4(RDH11):c.953A>G (p.Asp318Gly)	GPHN, RDH11 (D248G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2110016	NM_016026.4(RDH11):c.950T>C (p.Ile317Thr)	GPHN, RDH11 (I247T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043733	NM_016026.4(RDH11):c.949A>G (p.Ile317Val)	GPHN, RDH11 (I317V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498804	NM_016026.4(RDH11):c.946C>G (p.Pro316Ala)	GPHN, RDH11 (P246A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019789	NM_016026.4(RDH11):c.934C>T (p.Leu312=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377216	NM_016026.4(RDH11):c.933C>A (p.Asp311Glu)	GPHN, RDH11 (D241E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967708	NM_016026.4(RDH11):c.927T>C (p.Ser309=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 835033	NM_016026.4(RDH11):c.922G>A (p.Val308Ile)	GPHN, RDH11 (V238I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719543	NM_016026.4(RDH11):c.921C>T (p.Asp307=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2124872	NM_016026.4(RDH11):c.915G>C (p.Leu305=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559713	NM_016026.4(RDH11):c.911G>A (p.Arg304Gln)	GPHN, RDH11 (R234Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1713957	NM_016026.4(RDH11):c.910C>T (p.Arg304Trp)	GPHN, RDH11 (R234W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010810	NM_016026.4(RDH11):c.905C>T (p.Ala302Val)	GPHN, RDH11 (A232V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148787	NM_016026.4(RDH11):c.894T>C (p.Asn298=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152771	NM_016026.4(RDH11):c.890G>A (p.Arg297His)	GPHN, RDH11 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1348335	NM_016026.4(RDH11):c.889C>T (p.Arg297Cys)	GPHN, RDH11 (R297C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 968922	NM_016026.4(RDH11):c.863_864del (p.His288fs)	GPHN, RDH11 (H218fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 972646	NM_016026.4(RDH11):c.856G>A (p.Asp286Asn)	GPHN, RDH11 (D216N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1630499	NM_016026.4(RDH11):c.855-19C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035398	NM_016026.4(RDH11):c.854+18T>G	RDH11, GPHN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1375072	NM_016026.4(RDH11):c.854+13T>G	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1105176	NM_016026.4(RDH11):c.854+8T>A	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1354949	NM_016026.4(RDH11):c.854+5G>A	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1525683	NM_016026.4(RDH11):c.854G>A (p.Ser285Asn)	GPHN, RDH11 (S215N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029425	NM_016026.4(RDH11):c.847C>A (p.His283Asn)	GPHN, RDH11 (H283N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	GUncertain significance
Select item 1008038	NM_016026.4(RDH11):c.839G>A (p.Ser280Asn)	GPHN, RDH11 (S210N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144889	NM_016026.4(RDH11):c.831G>A (p.Glu277=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412110	NM_016026.4(RDH11):c.812C>T (p.Ala271Val)	GPHN, RDH11 (A271V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611767	NM_016026.4(RDH11):c.807C>T (p.His269=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629274	NM_016026.4(RDH11):c.798C>T (p.Thr266=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 853465	NM_016026.4(RDH11):c.790G>T (p.Ala264Ser)	GPHN, RDH11 (A194S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021351	NM_016026.4(RDH11):c.783G>A (p.Gln261=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635454	NM_016026.4(RDH11):c.771C>T (p.Ile257=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047600	NM_016026.4(RDH11):c.764T>G (p.Phe255Cys)	GPHN, RDH11 (F185C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446452	NM_016026.4(RDH11):c.749G>A (p.Trp250Ter)	GPHN, RDH11 (W180* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	GLikely pathogenic
Select item 961974	NM_016026.4(RDH11):c.747G>A (p.Met249Ile)	GPHN, RDH11 (M179I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1012050	NM_016026.4(RDH11):c.729dup (p.Ser244fs)	GPHN, RDH11 (S174fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2719977	NM_016026.4(RDH11):c.723G>T (p.Arg241=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573292	NM_016026.4(RDH11):c.723G>A (p.Arg241=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149618	NM_016026.4(RDH11):c.722G>A (p.Arg241Gln)	GPHN, RDH11 (R171Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1058723	NM_016026.4(RDH11):c.721C>T (p.Arg241Trp)	GPHN, RDH11 (R171W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1351403	NM_016026.4(RDH11):c.718G>C (p.Val240Leu)	GPHN, RDH11 (V170L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447180	NM_016026.4(RDH11):c.716T>G (p.Leu239Arg)	GPHN, RDH11 (L239R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605125	NM_016026.4(RDH11):c.715C>T (p.Leu239=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 959720	NM_016026.4(RDH11):c.709T>C (p.Ser237Pro)	GPHN, RDH11 (S167P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611455	NM_016026.4(RDH11):c.708A>G (p.Gln236=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152770	NM_016026.4(RDH11):c.693C>A (p.His231Gln)	GPHN, RDH11 (H231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1466828	NM_016026.4(RDH11):c.688G>C (p.Val230Leu)	GPHN, RDH11 (V160L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536534	NM_016026.4(RDH11):c.687T>C (p.Ser229=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747712	NM_016026.4(RDH11):c.678G>A (p.Thr226=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349580	NM_016026.4(RDH11):c.677C>T (p.Thr226Met)	GPHN, RDH11 (T156M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381383	NM_016026.4(RDH11):c.673G>C (p.Val225Leu)	GPHN, RDH11 (V225L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013999	NM_016026.4(RDH11):c.673G>A (p.Val225Ile)	GPHN, RDH11 (V155I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564404	NM_016026.4(RDH11):c.672C>T (p.Gly224=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391636	NM_016026.4(RDH11):c.665-5A>G	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1170026	NM_016026.4(RDH11):c.665-7del	GPHN, RDH11	Deletion (intron variant)	not provided	GBenign
Select item 1672377	NM_016026.4(RDH11):c.665-10C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619580	NM_016026.4(RDH11):c.665-11C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642389	NM_016026.4(RDH11):c.665-17A>G	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671568	NM_016026.4(RDH11):c.652C>T (p.Arg218Trp)	GPHN, RDH11 (R218W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2001936	NM_016026.4(RDH11):c.649G>A (p.Ala217Thr)	GPHN, RDH11 (A217T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1044863	NM_016026.4(RDH11):c.645A>T (p.Glu215Asp)	GPHN, RDH11 (E215D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 741130	NM_016026.4(RDH11):c.628A>G (p.Ile210Val)	GPHN, RDH11 (I210V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2104486	NM_016026.4(RDH11):c.622G>C (p.Ala208Pro)	GPHN, RDH11 (A208P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1134220	NM_016026.4(RDH11):c.618G>A (p.Lys206=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1482291	NM_016026.4(RDH11):c.605A>G (p.Tyr202Cys)	GPHN, RDH11 (Y202C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1057094	NM_016026.4(RDH11):c.598C>G (p.Leu200Val)	GPHN, RDH11 (L200V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1943540	NM_016026.4(RDH11):c.587A>G (p.Tyr196Cys)	GPHN, RDH11 (Y196C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963492	NM_016026.4(RDH11):c.585C>G (p.Phe195Leu)	GPHN, RDH11 (F195L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490642	NM_016026.4(RDH11):c.577G>A (p.Glu193Lys)	GPHN, RDH11 (E193K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 958709	NM_016026.4(RDH11):c.576C>T (p.Gly192=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 946513	NM_016026.4(RDH11):c.572A>G (p.Gln191Arg)	GPHN, RDH11 (Q191R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1507142	NM_016026.4(RDH11):c.542A>G (p.His181Arg)	GPHN, RDH11 (H181R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1605543	NM_016026.4(RDH11):c.537A>G (p.Ala179=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1971164	NM_016026.4(RDH11):c.535G>A (p.Ala179Thr)	GPHN, RDH11 (A179T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1139998	NM_016026.4(RDH11):c.534C>T (p.Leu178=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911666	NM_016026.4(RDH11):c.531C>T (p.Ser177=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 965137	NM_016026.4(RDH11):c.523G>A (p.Val175Met)	GPHN, RDH11 (V175M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1046807	NM_016026.4(RDH11):c.517G>A (p.Val173Ile)	GPHN, RDH11 (V173I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083814	NM_016026.4(RDH11):c.514A>G (p.Ile172Val)	GPHN, RDH11 (I172V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1648358	NM_016026.4(RDH11):c.507A>G (p.Pro169=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 842721	NM_016026.4(RDH11):c.484G>T (p.Glu162Ter)	GPHN, RDH11 (E162*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1092392	NM_016026.4(RDH11):c.483A>G (p.Leu161=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910784	NM_016026.4(RDH11):c.476T>G (p.Leu159Arg)	GPHN, RDH11 (L159R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1570849	NM_016026.4(RDH11):c.459C>T (p.His153=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1460664	NM_016026.4(RDH11):c.457C>G (p.His153Asp)	GPHN, RDH11 (H153D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 790279	NM_016026.4(RDH11):c.456T>G (p.Gly152=)	GPHN, RDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1475158	NM_016026.4(RDH11):c.455G>A (p.Gly152Asp)	GPHN, RDH11 (G152D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1043081	NM_016026.4(RDH11):c.455-7T>G	RDH11, GPHN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1169289	NM_016026.4(RDH11):c.455-14G>C	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1597635	NM_016026.4(RDH11):c.455-18dup	GPHN, RDH11	Duplication (intron variant)	not provided	GBenign
Select item 2984325	NM_016026.4(RDH11):c.454+20C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121138	NM_016026.4(RDH11):c.454+3A>G	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1339901	NM_016026.4(RDH11):c.454+2T>A	GPHN, RDH11	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3152769	NM_016026.4(RDH11):c.448C>A (p.His150Asn)	GPHN, RDH11 (H150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1479604	NM_016026.4(RDH11):c.442G>A (p.Val148Ile)	RDH11, GPHN (V148I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464811	NM_016026.4(RDH11):c.436A>G (p.Ile146Val)	GPHN, RDH11 (I146V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1716612	NM_016026.4(RDH11):c.431T>C (p.Met144Thr)	GPHN, RDH11 (M144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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