ClinVar for Gene (Select 128338) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085708	NM_001349884.2(DRAM2):c.220C>T (p.Arg74Cys)	DRAM2 (R74C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3085707	NM_001349884.2(DRAM2):c.191C>G (p.Ala64Gly)	DRAM2 (A64G)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3085706	NM_001349884.2(DRAM2):c.163T>G (p.Leu55Val)	DRAM2 (L55V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 3062733	GRCh37/hg19 1p13.3-13.2(chr1:111277065-111804157)x1	CD53, CEPT1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3053751	NM_001349884.2(DRAM2):c.694-6T>G	DRAM2	Single nucleotide variant (intron variant)	DRAM2-related disorder	GLikely benign
Select item 3053249	NM_001349884.2(DRAM2):c.694-4C>A	DRAM2	Single nucleotide variant (intron variant)	DRAM2-related disorder	GLikely benign
Select item 3052494	NM_001349884.2(DRAM2):c.694-5T>A	DRAM2	Single nucleotide variant (intron variant)	DRAM2-related disorder	GLikely benign
Select item 3003174	NM_001349884.2(DRAM2):c.795T>C (p.Asp265=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972653	NM_001349884.2(DRAM2):c.339+11del	DRAM2	Deletion (intron variant)	not provided	GBenign
Select item 2972496	NM_001349884.2(DRAM2):c.439C>T (p.Gln147Ter)	DRAM2 (Q57* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2957767	NM_001349884.2(DRAM2):c.132-10T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956164	NM_001349884.2(DRAM2):c.517+17A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850289	NM_001349884.2(DRAM2):c.323T>G (p.Ile108Ser)	DRAM2 (I108S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2805978	NM_001349884.2(DRAM2):c.263TCA[1] (p.Ile89del)	DRAM2 (I89del)	Microsatellite (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2791885	NM_001349884.2(DRAM2):c.518-4A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782040	NM_001349884.2(DRAM2):c.701C>A (p.Ser234Tyr)	DRAM2 (S104Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781691	NM_001349884.2(DRAM2):c.131+10A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780703	NM_001349884.2(DRAM2):c.518-4A>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722930	NM_001349884.2(DRAM2):c.711G>T (p.Val237=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703348	NM_001349884.2(DRAM2):c.199+14G>A	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685588	GRCh37/hg19 1p13.3(chr1:111346683-111679264)x1	CD53, DRAM2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2533087	NM_001349884.2(DRAM2):c.143C>T (p.Thr48Ile)	DRAM2 (T48I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2261569	NM_001349884.2(DRAM2):c.548G>A (p.Gly183Asp)	DRAM2 (G183D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2156657	NM_001349884.2(DRAM2):c.516C>T (p.Ser172=)	DRAM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2134051	NM_001349884.2(DRAM2):c.487G>A (p.Val163Ile)	DRAM2 (V163I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128656	NM_001349884.2(DRAM2):c.744C>T (p.Asp248=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125100	NM_001349884.2(DRAM2):c.574A>G (p.Lys192Glu)	DRAM2 (K192E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123877	NM_001349884.2(DRAM2):c.206C>T (p.Ala69Val)	DRAM2 (A69V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2121925	NM_001349884.2(DRAM2):c.333C>A (p.Asn111Lys)	DRAM2 (N111K)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2116931	NM_001349884.2(DRAM2):c.517+5C>A	DRAM2	Single nucleotide variant (intron variant)	Cone-rod dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2111431	NM_001349884.2(DRAM2):c.132-12T>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110525	NM_001349884.2(DRAM2):c.694-7G>A	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093364	NM_001349884.2(DRAM2):c.601-1G>A	DRAM2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2091825	NM_001349884.2(DRAM2):c.340-11C>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086618	NM_001349884.2(DRAM2):c.276C>T (p.Asn92=)	DRAM2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2086575	NM_001349884.2(DRAM2):c.71T>C (p.Ile24Thr)	DRAM2 (I24T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2077679	NM_001349884.2(DRAM2):c.72A>G (p.Ile24Met)	DRAM2 (I24M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2050189	NM_001349884.2(DRAM2):c.740A>C (p.Tyr247Ser)	DRAM2 (Y117S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2035865	NM_001349884.2(DRAM2):c.131+18T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014913	NM_001349884.2(DRAM2):c.745A>C (p.Thr249Pro)	DRAM2 (T159P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010673	NM_001349884.2(DRAM2):c.214T>G (p.Tyr72Asp)	DRAM2 (Y72D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2003336	NM_001349884.2(DRAM2):c.440_441delinsCC (p.Gln147Pro)	DRAM2 (Q57P +2 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1994676	NM_001349884.2(DRAM2):c.200-8T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991756	NM_001349884.2(DRAM2):c.779G>A (p.Arg260Gln)	DRAM2 (R130Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1978440	NM_001349884.2(DRAM2):c.651T>C (p.Phe217=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1969499	NM_001349884.2(DRAM2):c.98T>G (p.Leu33Arg)	DRAM2 (L33R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1967430	NM_001349884.2(DRAM2):c.292C>T (p.Leu98Phe)	DRAM2 (L98F)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1964401	NM_001349884.2(DRAM2):c.236A>G (p.His79Arg)	DRAM2 (H79R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1955109	NM_001349884.2(DRAM2):c.340-9A>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953366	NM_001349884.2(DRAM2):c.200-14T>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1951987	NM_001349884.2(DRAM2):c.104A>G (p.His35Arg)	DRAM2 (H35R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1946657	NM_001349884.2(DRAM2):c.199+7A>T	DRAM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1941242	NM_001349884.2(DRAM2):c.296del (p.Gly99fs)	DRAM2 (G99fs)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 1940042	NM_001349884.2(DRAM2):c.132-20C>T	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936695	NM_001349884.2(DRAM2):c.291A>G (p.Val97=)	DRAM2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1934542	NM_001349884.2(DRAM2):c.727G>A (p.Gly243Arg)	DRAM2 (G113R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925775	NM_001349884.2(DRAM2):c.517+18A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924363	NM_001349884.2(DRAM2):c.772C>T (p.Arg258Ter)	DRAM2 (R128* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1921495	NM_001349884.2(DRAM2):c.725A>G (p.His242Arg)	DRAM2 (H112R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920230	NM_001349884.2(DRAM2):c.199+10G>A	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918858	NM_001349884.2(DRAM2):c.625A>G (p.Thr209Ala)	DRAM2 (T209A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909034	NM_001349884.2(DRAM2):c.107T>C (p.Ile36Thr)	DRAM2 (I36T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1908616	NM_001349884.2(DRAM2):c.16C>G (p.Gln6Glu)	DRAM2 (Q6E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1807942	GRCh37/hg19 1p13.3(chr1:111507804-111713672)x3	CEPT1, DRAM2	Copy number gain	not provided	GUncertain significance
Select item 1665410	NM_001349884.2(DRAM2):c.199+9T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653667	NM_001349884.2(DRAM2):c.612T>G (p.Leu204=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1648301	NM_001349884.2(DRAM2):c.600+11A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642415	NM_001349884.2(DRAM2):c.126T>C (p.Tyr42=)	DRAM2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1642042	NM_001349884.2(DRAM2):c.396C>T (p.Gly132=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1641694	NM_001349884.2(DRAM2):c.600+18A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640665	NM_001349884.2(DRAM2):c.518-11T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621823	NM_001349884.2(DRAM2):c.703T>C (p.Leu235=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1560333	NM_001349884.2(DRAM2):c.348C>A (p.Thr116=)	DRAM2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1554353	NM_001349884.2(DRAM2):c.601-13T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1552973	NM_001349884.2(DRAM2):c.600+17T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551601	NM_001349884.2(DRAM2):c.200-17G>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543302	NM_001349884.2(DRAM2):c.694-7G>T	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539892	NM_001349884.2(DRAM2):c.601-11C>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536133	NM_001349884.2(DRAM2):c.340-9A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532983	NM_001349884.2(DRAM2):c.600+13A>T	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532916	NM_001349884.2(DRAM2):c.534A>G (p.Ser178=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529824	NM_001349884.2(DRAM2):c.708G>A (p.Arg236=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1523141	NM_001349884.2(DRAM2):c.113C>T (p.Pro38Leu)	DRAM2 (P38L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1522285	NM_001349884.2(DRAM2):c.242T>C (p.Leu81Pro)	DRAM2 (L81P)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1521967	NM_001349884.2(DRAM2):c.279G>A (p.Lys93=)	DRAM2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1521035	NM_001349884.2(DRAM2):c.199+6T>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1518344	NM_001349884.2(DRAM2):c.200-2_211del	DRAM2	Deletion (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1511553	NM_001349884.2(DRAM2):c.135C>G (p.Asp45Glu)	DRAM2 (D45E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1502704	NM_001349884.2(DRAM2):c.259G>A (p.Val87Ile)	DRAM2 (V87I)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1499456	NM_001349884.2(DRAM2):c.433C>A (p.Gln145Lys)	DRAM2 (Q55K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497435	NM_001349884.2(DRAM2):c.133G>A (p.Asp45Asn)	DRAM2 (D45N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1497133	NM_001349884.2(DRAM2):c.415C>G (p.Gln139Glu)	DRAM2 (Q139E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496246	NM_001349884.2(DRAM2):c.47T>C (p.Val16Ala)	DRAM2 (V16A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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