Related gene-specific medical variations for Gene (Select 5959) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3006986	NM_002905.5(RDH5):c.507A>T (p.Ala169=)	RDH5, BLOC1S1-RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2979724	NM_002905.5(RDH5):c.771T>C (p.Cys257=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2972674	NM_002905.5(RDH5):c.384T>C (p.Asp128=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2880324	NM_002905.5(RDH5):c.486C>T (p.Thr162=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2879756	NM_002905.5(RDH5):c.493C>T (p.Leu165=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834187	NM_002905.5(RDH5):c.537del (p.Lys179fs)	BLOC1S1-RDH5, RDH5 (K179fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2821052	NM_002905.5(RDH5):c.798A>G (p.Arg266=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2809237	NM_002905.5(RDH5):c.430del (p.Thr144fs)	BLOC1S1-RDH5, RDH5 (T144fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2765616	NM_002905.5(RDH5):c.569+1G>A	BLOC1S1-RDH5, RDH5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2743144	NM_002905.5(RDH5):c.887A>G (p.Tyr296Cys)	BLOC1S1-RDH5, CD63 +1 more (Y296C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2727112	NM_002905.5(RDH5):c.570-4C>G	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2698684	NM_002905.5(RDH5):c.734-9_734-4del	BLOC1S1-RDH5, CD63 +1 more	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2689864	NM_002905.5(RDH5):c.952dup (p.Tyr318fs)	BLOC1S1-RDH5, CD63 +1 more (Y318fs)	Duplication (non-coding transcript variant +2 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 2627369	NM_002905.5(RDH5):c.124C>T (p.Arg42Cys)	BLOC1S1-RDH5, RDH5 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2416483	NM_002905.5(RDH5):c.907G>T (p.Asp303Tyr)	BLOC1S1-RDH5, CD63 +1 more (D303Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2314626	NM_002905.5(RDH5):c.592A>G (p.Ile198Val)	BLOC1S1-RDH5, CD63 +1 more (I198V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2308807	NM_002905.5(RDH5):c.664C>G (p.Leu222Val)	BLOC1S1-RDH5, CD63 +1 more (L222V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290947	NM_002905.5(RDH5):c.185C>T (p.Pro62Leu)	RDH5, BLOC1S1-RDH5 (P62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256293	NM_002905.5(RDH5):c.715G>A (p.Gly239Arg)	BLOC1S1-RDH5, CD63 +1 more (G239R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2238061	NM_002905.5(RDH5):c.82A>G (p.Asn28Asp)	RDH5, BLOC1S1-RDH5 (N28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2193932	NM_002905.5(RDH5):c.196G>A (p.Glu66Lys)	BLOC1S1-RDH5, RDH5 (E66K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2170103	NM_002905.5(RDH5):c.752G>A (p.Arg251His)	BLOC1S1-RDH5, CD63 +1 more (R251H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2162607	NM_002905.5(RDH5):c.54C>T (p.Leu18=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2161787	NM_002905.5(RDH5):c.412A>G (p.Met138Val)	RDH5, BLOC1S1-RDH5 (M138V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2142889	NM_002905.5(RDH5):c.223C>T (p.Arg75Cys)	RDH5, BLOC1S1-RDH5 (R75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137376	NM_002905.5(RDH5):c.310+1G>A	BLOC1S1-RDH5, RDH5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2134521	NM_002905.5(RDH5):c.851G>A (p.Gly284Asp)	RDH5, BLOC1S1-RDH5 +1 more (G284D)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2129020	NM_002905.5(RDH5):c.310+10G>A	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127750	NM_002905.5(RDH5):c.521del (p.Gly174fs)	BLOC1S1-RDH5, RDH5 (G174fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2127619	NM_002905.5(RDH5):c.766A>T (p.Ile256Phe)	BLOC1S1-RDH5, CD63 +1 more (I256F)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2122511	NM_002905.5(RDH5):c.948A>G (p.Ala316=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2119328	NM_002905.5(RDH5):c.541G>A (p.Gly181Ser)	BLOC1S1-RDH5, RDH5 (G181S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2116230	NM_002905.5(RDH5):c.310+19C>G	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116029	NM_002905.5(RDH5):c.739A>T (p.Lys247Ter)	BLOC1S1-RDH5, CD63 +1 more (K247*)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2113993	NM_002905.5(RDH5):c.219C>T (p.Ser73=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111655	NM_002905.5(RDH5):c.233C>T (p.Thr78Ile)	BLOC1S1-RDH5, RDH5 (T78I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108632	NM_002905.5(RDH5):c.478A>G (p.Asn160Asp)	BLOC1S1-RDH5, RDH5 (N160D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2103558	NM_002905.5(RDH5):c.779A>C (p.Asp260Ala)	RDH5, BLOC1S1-RDH5 +1 more (D260A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2099394	NM_002905.5(RDH5):c.725T>C (p.Leu242Pro)	RDH5, CD63 +1 more (L242P)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2094192	NM_002905.5(RDH5):c.776C>G (p.Pro259Arg)	BLOC1S1-RDH5, CD63 +1 more (P259R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2087886	NM_002905.5(RDH5):c.733+12G>A	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2075580	NM_002905.5(RDH5):c.734-8G>C	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2073771	NM_002905.5(RDH5):c.811G>A (p.Ala271Thr)	RDH5, CD63 +1 more (A271T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2063006	NM_002905.5(RDH5):c.734-12A>C	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2047274	NM_002905.5(RDH5):c.697A>G (p.Thr233Ala)	BLOC1S1-RDH5, CD63 +1 more (T233A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2047201	NM_002905.5(RDH5):c.231C>T (p.His77=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029717	NM_002905.5(RDH5):c.311-13C>T	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013325	NM_002905.5(RDH5):c.731A>C (p.Lys244Thr)	BLOC1S1-RDH5, CD63 +1 more (K244T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2007537	NM_002905.5(RDH5):c.509C>T (p.Ala170Val)	BLOC1S1-RDH5, RDH5 (A170V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1999996	NM_002905.5(RDH5):c.65A>G (p.Gln22Arg)	BLOC1S1-RDH5, RDH5 (Q22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995506	NM_002905.5(RDH5):c.739A>C (p.Lys247Gln)	BLOC1S1-RDH5, CD63 +1 more (K247Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1994814	NM_002905.5(RDH5):c.403G>A (p.Val135Met)	RDH5, BLOC1S1-RDH5 (V135M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1981247	NM_002905.5(RDH5):c.460G>A (p.Ala154Thr)	BLOC1S1-RDH5, RDH5 (A154T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1978707	NM_002905.5(RDH5):c.569+5G>C	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1976739	NM_002905.5(RDH5):c.734-7G>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1967405	NM_002905.5(RDH5):c.490G>A (p.Val164Ile)	RDH5, BLOC1S1-RDH5 (V164I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1961277	NM_002905.5(RDH5):c.64C>T (p.Gln22Ter)	BLOC1S1-RDH5, RDH5 (Q22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1960396	NM_002905.5(RDH5):c.807G>T (p.Glu269Asp)	BLOC1S1-RDH5, CD63 +1 more (E269D)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1947941	NM_002905.5(RDH5):c.733+16C>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1925821	NM_002905.5(RDH5):c.745C>G (p.Gln249Glu)	BLOC1S1-RDH5, CD63 +1 more (Q249E)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1924469	NM_002905.5(RDH5):c.736C>G (p.Leu246Val)	BLOC1S1-RDH5, CD63 +1 more (L246V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1921289	NM_002905.5(RDH5):c.252T>C (p.Thr84=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918162	NM_002905.5(RDH5):c.777G>C (p.Pro259=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1916703	NM_002905.5(RDH5):c.570-9del	BLOC1S1-RDH5, CD63 +1 more	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1906563	NM_002905.5(RDH5):c.155G>T (p.Gly52Val)	RDH5, BLOC1S1-RDH5 (G52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903218	NM_002905.5(RDH5):c.606C>T (p.Ile202=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1903216	NM_002905.5(RDH5):c.806A>G (p.Glu269Gly)	CD63, RDH5 +1 more (E269G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1805000	NM_002905.5(RDH5):c.608T>A (p.Val203Glu)	BLOC1S1-RDH5, CD63 +1 more (V203E)	Single nucleotide variant (non-coding transcript variant +2 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 1719815	NM_002905.5(RDH5):c.100A>G (p.Thr34Ala)	BLOC1S1-RDH5, RDH5 (T34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715840	NM_002905.5(RDH5):c.364C>T (p.Pro122Ser)	RDH5, BLOC1S1-RDH5 (P122S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1714182	NM_002905.5(RDH5):c.161G>T (p.Arg54Leu)	BLOC1S1-RDH5, RDH5 (R54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687569	NM_002905.5(RDH5):c.394G>A (p.Val132Met)	BLOC1S1-RDH5, RDH5 (V132M)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GLikely pathogenic
Select item 1673421	NM_002905.5(RDH5):c.444G>C (p.Leu148=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1667224	NM_002905.5(RDH5):c.351C>A (p.Ile117=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1666978	NM_002905.5(RDH5):c.43C>T (p.Leu15=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665038	NM_002905.5(RDH5):c.864G>A (p.Lys288=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1663950	NM_002905.5(RDH5):c.570-19C>T	RDH5, BLOC1S1-RDH5 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660847	NM_002905.5(RDH5):c.42G>A (p.Val14=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659921	NM_002905.5(RDH5):c.708C>T (p.His236=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1654022	NM_002905.5(RDH5):c.463C>A (p.Arg155=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1648554	NM_002905.5(RDH5):c.733+7A>G	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646550	NM_002905.5(RDH5):c.654G>C (p.Leu218=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1642793	NM_002905.5(RDH5):c.102C>T (p.Thr34=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638680	NM_002905.5(RDH5):c.570-10C>T	CD63, RDH5 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634734	NM_002905.5(RDH5):c.363A>G (p.Thr121=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1631114	NM_002905.5(RDH5):c.816G>A (p.Leu272=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1614163	NM_002905.5(RDH5):c.564C>T (p.Ser188=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1604127	NM_002905.5(RDH5):c.699A>G (p.Thr233=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1590912	NM_002905.5(RDH5):c.195C>T (p.Ala65=)	RDH5, BLOC1S1-RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571649	NM_002905.5(RDH5):c.401A>C (p.Asn134Thr)	BLOC1S1-RDH5, RDH5 (N134T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1554120	NM_002905.5(RDH5):c.27C>G (p.Ala9=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545968	NM_002905.5(RDH5):c.570-8G>A	RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545501	NM_002905.5(RDH5):c.569+12A>C	RDH5, BLOC1S1-RDH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544905	NM_002905.5(RDH5):c.912T>C (p.Ala304=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1538793	NM_002905.5(RDH5):c.311-5C>T	BLOC1S1-RDH5, RDH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538420	NM_002905.5(RDH5):c.345T>C (p.Ala115=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1536921	NM_002905.5(RDH5):c.186C>G (p.Pro62=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536892	NM_002905.5(RDH5):c.408C>T (p.Asn136=)	BLOC1S1-RDH5, RDH5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1535536	NM_002905.5(RDH5):c.612G>A (p.Glu204=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1533394	NM_002905.5(RDH5):c.733+10C>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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