ClinVar for Gene (Select 51109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244003	NC_000014.8:g.(?_68145038)_(68276026_?)dup	RDH11, RDH12 +1 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 3243951	NC_000014.8:g.(?_68145038)_(68282680_?)del	RDH11, RDH12 +1 more	Deletion	Spastic paraplegia	GPathogenic
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 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 3152769	NM_016026.4(RDH11):c.448C>A (p.His150Asn)	GPHN, RDH11 (H150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063326	GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 3052981	NM_016026.4(RDH11):c.-10G>C	GPHN, RDH11	Single nucleotide variant (5 prime UTR variant)	RDH11-related disorder	GLikely benign
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 3003690	NM_016026.4(RDH11):c.350-7C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998728	NM_016026.4(RDH11):c.357G>A (p.Lys119=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984325	NM_016026.4(RDH11):c.454+20C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873477	NM_016026.4(RDH11):c.194-12G>A	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872936	NM_016026.4(RDH11):c.408G>A (p.Ser136=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867363	NM_016026.4(RDH11):c.219G>A (p.Arg73=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2684732	GRCh37/hg19 14q24.1(chr14:67906151-68183185)x3	ARG2, PIGH +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684729	GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	ARG2, ATP6V1D +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
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 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 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 2426259	NC_000014.8:g.(?_68145038)_(68238947_?)dup	RDH11, RDH12 +1 more	Duplication	not provided	GUncertain significance
Select item 2337901	NM_016026.4(RDH11):c.352G>C (p.Glu118Gln)	GPHN, RDH11 (E118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298193	NM_016026.4(RDH11):c.308A>G (p.Asp103Gly)	GPHN, RDH11 (D103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280282	NM_016026.4(RDH11):c.81G>T (p.Met27Ile)	GPHN, RDH11 (M27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2121560	NM_016026.4(RDH11):c.161G>A (p.Gly54Glu)	GPHN, RDH11 (G54E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121138	NM_016026.4(RDH11):c.454+3A>G	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	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 2104570	NM_016026.4(RDH11):c.93G>A (p.Gly31=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	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 2101783	NM_016026.4(RDH11):c.420T>C (p.Asp140=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2074424	NM_016026.4(RDH11):c.151A>G (p.Thr51Ala)	GPHN, RDH11 (T51A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063902	NM_016026.4(RDH11):c.106A>G (p.Thr36Ala)	GPHN, RDH11 (T36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047987	NM_016026.4(RDH11):c.411G>A (p.Lys137=)	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 2035398	NM_016026.4(RDH11):c.854+18T>G	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030271	NM_016026.4(RDH11):c.74+3C>A	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2026320	NM_016026.4(RDH11):c.193+8C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022787	NM_016026.4(RDH11):c.75-6C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2012492	NM_016026.4(RDH11):c.307G>A (p.Asp103Asn)	GPHN, RDH11 (D103N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009927	NM_016026.4(RDH11):c.20C>T (p.Pro7Leu)	RDH11, GPHN (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1976280	NM_016026.4(RDH11):c.234G>A (p.Gly78=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975788	NM_016026.4(RDH11):c.394A>G (p.Met132Val)	GPHN, RDH11 (M132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1967708	NM_016026.4(RDH11):c.927T>C (p.Ser309=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965445	NM_016026.4(RDH11):c.319A>G (p.Ile107Val)	GPHN, RDH11 (I107V)	Single nucleotide variant (missense variant)	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 1946734	NM_016026.4(RDH11):c.74+16T>A	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1930710	NM_016026.4(RDH11):c.130G>A (p.Val44Ile)	GPHN, RDH11 (V44I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930590	NM_016026.4(RDH11):c.350-15G>A	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925832	NM_016026.4(RDH11):c.218G>A (p.Arg73Gln)	GPHN, RDH11 (R73Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1919223	NM_016026.4(RDH11):c.413C>T (p.Thr138Ile)	RDH11, GPHN (T138I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918860	NM_016026.4(RDH11):c.34C>T (p.Leu12Phe)	RDH11, GPHN (L12F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1903024	NM_016026.4(RDH11):c.379A>G (p.Asn127Asp)	GPHN, RDH11 (N127D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898473	NM_016026.4(RDH11):c.350-16C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898060	NM_016026.4(RDH11):c.217C>T (p.Arg73Trp)	GPHN, RDH11 (R73W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1717642	NM_016026.4(RDH11):c.154G>A (p.Gly52Ser)	GPHN, RDH11 (G52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717277	NM_016026.4(RDH11):c.46C>T (p.Leu16Phe)	GPHN, RDH11 (L16F)	Single nucleotide variant (missense variant)	not provided	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
Select item 1715630	NM_016026.4(RDH11):c.179A>G (p.Glu60Gly)	GPHN, RDH11 (E60G)	Single nucleotide variant (missense variant)	not provided	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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1672377	NM_016026.4(RDH11):c.665-10C>T	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 +1 more	GLikely benign
Select item 1662253	NM_016026.4(RDH11):c.168G>A (p.Glu56=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1642389	NM_016026.4(RDH11):c.665-17A>G	GPHN, RDH11	Single nucleotide variant (intron 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 1630499	NM_016026.4(RDH11):c.855-19C>T	GPHN, RDH11	Single nucleotide variant (intron 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 1625704	NM_016026.4(RDH11):c.405C>T (p.Tyr135=)	GPHN, RDH11	Single nucleotide variant (synonymous 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 1614717	NM_016026.4(RDH11):c.75-9T>C	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611767	NM_016026.4(RDH11):c.807C>T (p.His269=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	RDH11-related disorder +1 more	GLikely benign
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 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 1605125	NM_016026.4(RDH11):c.715C>T (p.Leu239=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603593	NM_016026.4(RDH11):c.363C>T (p.Leu121=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597635	NM_016026.4(RDH11):c.455-18dup	GPHN, RDH11	Duplication (intron variant)	not provided	GBenign
Select item 1573292	NM_016026.4(RDH11):c.723G>A (p.Arg241=)	RDH11, GPHN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570849	NM_016026.4(RDH11):c.459C>T (p.His153=)	RDH11, GPHN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1538474	NM_016026.4(RDH11):c.132T>C (p.Val44=)	GPHN, RDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536534	NM_016026.4(RDH11):c.687T>C (p.Ser229=)	RDH11, GPHN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531233	NM_016026.4(RDH11):c.193+10C>T	GPHN, RDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527823	GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 1525921	NM_016026.4(RDH11):c.323G>A (p.Arg108Gln)	GPHN, RDH11 (R108Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1525683	NM_016026.4(RDH11):c.854G>A (p.Ser285Asn)	RDH11, GPHN (S215N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523004	NM_016026.4(RDH11):c.220G>C (p.Asp74His)	GPHN, RDH11 (D74H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521597	NM_016026.4(RDH11):c.241G>A (p.Val81Met)	RDH11, GPHN (V81M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520574	NM_016026.4(RDH11):c.208T>G (p.Leu70Val)	GPHN, RDH11 (L70V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518554	NM_016026.4(RDH11):c.290G>A (p.Arg97Gln)	GPHN, RDH11 (R97Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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