ClinVar for Gene (Select 967) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370439	NM_002905.5(RDH5):c.713G>C (p.Gly238Ala)	BLOC1S1-RDH5, CD63 +1 more (G238A)	Single nucleotide variant (non-coding transcript variant +2 more)	Pigmentary retinal dystrophy	GLikely pathogenic
Select item 3342276	NM_002905.5(RDH5):c.878C>G (p.Pro293Arg)	BLOC1S1-RDH5, CD63 +1 more (P293R)	Single nucleotide variant (non-coding transcript variant +2 more)	Pigmentary retinal dystrophy	GUncertain significance
Select item 3340053	NM_002905.5(RDH5):c.712G>C (p.Gly238Arg)	BLOC1S1-RDH5, CD63 +1 more (G238R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3264863	NM_001780.6(CD63):c.491G>A (p.Arg164Gln)	CD63 (R164Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140645	NM_001780.6(CD63):c.565G>A (p.Glu189Lys)	CD63 (E178K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140644	NM_001780.6(CD63):c.388A>C (p.Asn130His)	CD63 (N48H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140642	NM_001780.6(CD63):c.145C>T (p.Pro49Ser)	CD63 (P26S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140641	NM_001780.6(CD63):c.109C>G (p.Leu37Val)	CD63 (L26V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 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	CD63, BLOC1S1-RDH5 +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 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 2383455	NM_001780.6(CD63):c.335T>C (p.Met112Thr)	CD63 (M30T +3 more)	Single nucleotide variant (missense variant)	not specified	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 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 2250444	NM_001780.6(CD63):c.366G>C (p.Gln122His)	CD63 (Q111H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2170103	NM_002905.5(RDH5):c.752G>A (p.Arg251His)	RDH5, BLOC1S1-RDH5 +1 more (R251H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2134521	NM_002905.5(RDH5):c.851G>A (p.Gly284Asp)	BLOC1S1-RDH5, CD63 +1 more (G284D)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2127619	NM_002905.5(RDH5):c.766A>T (p.Ile256Phe)	RDH5, BLOC1S1-RDH5 +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=)	RDH5, BLOC1S1-RDH5 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	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 2103558	NM_002905.5(RDH5):c.779A>C (p.Asp260Ala)	BLOC1S1-RDH5, CD63 +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)	BLOC1S1-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	RDH5, BLOC1S1-RDH5 +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)	BLOC1S1-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 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 1995506	NM_002905.5(RDH5):c.739A>C (p.Lys247Gln)	CD63, RDH5 +1 more (K247Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1976739	NM_002905.5(RDH5):c.734-7G>T	CD63, BLOC1S1-RDH5 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 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)	BLOC1S1-RDH5, CD63 +1 more (E269G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	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 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	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659921	NM_002905.5(RDH5):c.708C>T (p.His236=)	RDH5, BLOC1S1-RDH5 +1 more	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 1638680	NM_002905.5(RDH5):c.570-10C>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	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 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 1545968	NM_002905.5(RDH5):c.570-8G>A	BLOC1S1-RDH5, CD63 +1 more	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 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
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 1523610	NM_002905.5(RDH5):c.645G>A (p.Leu215=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1518616	NM_002905.5(RDH5):c.626G>A (p.Arg209Gln)	BLOC1S1-RDH5, CD63 +1 more (R209Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1516668	NM_002905.5(RDH5):c.779A>G (p.Asp260Gly)	BLOC1S1-RDH5, CD63 +1 more (D260G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1505986	NM_002905.5(RDH5):c.718G>T (p.Ala240Ser)	BLOC1S1-RDH5, CD63 +1 more (A240S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1495586	NM_002905.5(RDH5):c.710A>G (p.Tyr237Cys)	BLOC1S1-RDH5, CD63 +1 more (Y237C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1493469	NM_002905.5(RDH5):c.682C>T (p.Arg228Trp)	RDH5, BLOC1S1-RDH5 +1 more (R228W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1483257	NM_002905.5(RDH5):c.751C>T (p.Arg251Cys)	BLOC1S1-RDH5, CD63 +1 more (R251C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1480870	NM_002905.5(RDH5):c.913G>A (p.Val305Met)	BLOC1S1-RDH5, CD63 +1 more (V305M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1475506	NM_002905.5(RDH5):c.605T>C (p.Ile202Thr)	BLOC1S1-RDH5, CD63 +1 more (I202T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1462420	NM_002905.5(RDH5):c.620T>C (p.Phe207Ser)	BLOC1S1-RDH5, CD63 +1 more (F207S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1452620	NM_002905.5(RDH5):c.632_633del (p.Pro211fs)	BLOC1S1-RDH5, CD63 +1 more (P211fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1451017	NM_002905.5(RDH5):c.592del (p.Ile198fs)	BLOC1S1-RDH5, CD63 +1 more (I198fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1442846	NM_002905.5(RDH5):c.881CCT[1] (p.Ser295del)	BLOC1S1-RDH5, CD63 +1 more (S295del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1421368	NM_002905.5(RDH5):c.797G>A (p.Arg266Gln)	BLOC1S1-RDH5, CD63 +1 more (R266Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1414983	NM_002905.5(RDH5):c.689C>T (p.Pro230Leu)	BLOC1S1-RDH5, CD63 +1 more (P230L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1414415	NM_002905.5(RDH5):c.778G>T (p.Asp260Tyr)	BLOC1S1-RDH5, CD63 +1 more (D260Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1379329	NM_002905.5(RDH5):c.570-9C>G	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1377670	NM_002905.5(RDH5):c.767T>C (p.Ile256Thr)	BLOC1S1-RDH5, CD63 +1 more (I256T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1366517	NM_002905.5(RDH5):c.860C>T (p.Ala287Val)	BLOC1S1-RDH5, CD63 +1 more (A287V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1360439	NM_002905.5(RDH5):c.900C>A (p.Ser300Arg)	BLOC1S1-RDH5, CD63 +1 more (S300R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1357654	NM_002905.5(RDH5):c.626G>C (p.Arg209Pro)	BLOC1S1-RDH5, CD63 +1 more (R209P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1353303	NM_002905.5(RDH5):c.571C>T (p.Arg191Trp)	BLOC1S1-RDH5, CD63 +1 more (R191W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1352974	NM_002905.5(RDH5):c.899G>T (p.Ser300Ile)	BLOC1S1-RDH5, CD63 +1 more (S300I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1347041	NM_002905.5(RDH5):c.838C>T (p.Arg280Cys)	BLOC1S1-RDH5, CD63 +1 more (R280C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1324999	NM_002905.5(RDH5):c.711dup (p.Gly238fs)	RDH5, BLOC1S1-RDH5 +1 more (G238fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1323522	NM_002905.5(RDH5):c.625del (p.Arg209fs)	BLOC1S1-RDH5, CD63 +1 more (R209fs)	Deletion (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 1236949	NM_002905.5(RDH5):c.570-100C>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168769	NM_002905.5(RDH5):c.570-18G>A	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1159720	NM_002905.5(RDH5):c.813C>T (p.Ala271=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1147766	NM_002905.5(RDH5):c.747A>G (p.Gln249=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1144657	NM_002905.5(RDH5):c.906G>A (p.Val302=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1133241	NM_002905.5(RDH5):c.600C>A (p.Val200=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1129411	NM_002905.5(RDH5):c.570-4_570-3del	BLOC1S1-RDH5, CD63 +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1113270	NM_002905.5(RDH5):c.570-9C>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1056326	NM_002905.5(RDH5):c.745C>A (p.Gln249Lys)	BLOC1S1-RDH5, CD63 +1 more (Q249K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1046125	NM_002905.5(RDH5):c.777G>A (p.Pro259=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1043711	NM_002905.5(RDH5):c.778G>A (p.Asp260Asn)	BLOC1S1-RDH5, CD63 +1 more (D260N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1020654	NM_002905.5(RDH5):c.596G>A (p.Arg199Gln)	BLOC1S1-RDH5, CD63 +1 more (R199Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 967357	NM_002905.5(RDH5):c.833G>A (p.Arg278Gln)	BLOC1S1-RDH5, CD63 +1 more (R278Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 963050	NM_002905.5(RDH5):c.665T>C (p.Leu222Pro)	BLOC1S1-RDH5, CD63 +1 more (L222P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 962002	NM_002905.5(RDH5):c.776C>A (p.Pro259Gln)	RDH5, BLOC1S1-RDH5 +1 more (P259Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance

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