DRAM2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1991756	NM_001349884.2(DRAM2):c.779G>A (p.Arg260Gln)	DRAM2 (R130Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 786853	NM_001349884.2(DRAM2):c.778C>T (p.Arg260Trp)	DRAM2 (R260W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 1372672	NM_001349884.2(DRAM2):c.760A>G (p.Ile254Val)	DRAM2 (I124V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1423849	NM_001349884.2(DRAM2):c.758del (p.Pro253fs)	DRAM2 (P123fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 2128656	NM_001349884.2(DRAM2):c.744C>T (p.Asp248=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1437497	NM_001349884.2(DRAM2):c.744C>G (p.Asp248Glu)	DRAM2 (D248E +2 more)	Single nucleotide variant (non-coding transcript variant +1 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 1352530	NM_001349884.2(DRAM2):c.740A>G (p.Tyr247Cys)	DRAM2 (Y157C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 863836	NM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro)	DRAM2 (L116P +2 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 21 +1 more	GConflicting classifications of pathogenicity
Select item 1486555	NM_001349884.2(DRAM2):c.731T>G (p.Leu244Ter)	DRAM2 (L114* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 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 1041048	NM_001349884.2(DRAM2):c.719A>G (p.Asn240Ser)	DRAM2 (N110S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1087225	NM_001349884.2(DRAM2):c.717C>T (p.Ala239=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	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 1529824	NM_001349884.2(DRAM2):c.708G>A (p.Arg236=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1003613	NM_001349884.2(DRAM2):c.707G>A (p.Arg236Gln)	DRAM2 (R106Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2782040	NM_001349884.2(DRAM2):c.701C>A (p.Ser234Tyr)	DRAM2 (S104Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 3053751	NM_001349884.2(DRAM2):c.694-6T>G	DRAM2	Single nucleotide variant (intron variant)	DRAM2-related disorder	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 1543302	NM_001349884.2(DRAM2):c.694-7G>T	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165821	NM_001349884.2(DRAM2):c.693+14_693+15delinsGC	DRAM2	Indel (intron variant)	not provided	GBenign
Select item 1010211	NM_001349884.2(DRAM2):c.693+13_693+14delinsGG	DRAM2	Indel (intron variant)	not provided	GUncertain significance
Select item 677169	NM_001349884.2(DRAM2):c.693+14A>G	DRAM2	Single nucleotide variant (intron variant)	Cone-rod dystrophy 21 +1 more	GBenign
Select item 1473471	NM_001349884.2(DRAM2):c.693+10C>T	DRAM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1014619	NM_001349884.2(DRAM2):c.689T>G (p.Phe230Cys)	DRAM2 (F100C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871871	NM_001349884.2(DRAM2):c.683G>A (p.Arg228His)	DRAM2 (R228H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1391104	NM_001349884.2(DRAM2):c.682C>T (p.Arg228Cys)	DRAM2 (R228C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1347288	NM_001349884.2(DRAM2):c.679A>G (p.Ile227Val)	DRAM2 (I97V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396222	NM_001349884.2(DRAM2):c.678C>A (p.Tyr226Ter)	DRAM2 (Y136* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 856685	NM_001349884.2(DRAM2):c.677dup (p.Tyr226Ter)	DRAM2 (Y226* +2 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
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 1461350	NM_001349884.2(DRAM2):c.642dup (p.Met215fs)	DRAM2 (M85fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1453413	NM_001349884.2(DRAM2):c.638G>A (p.Trp213Ter)	DRAM2 (W123* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 843734	NM_001349884.2(DRAM2):c.632C>G (p.Ala211Gly)	DRAM2 (A211G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1415301	NM_001349884.2(DRAM2):c.629C>T (p.Ala210Val)	DRAM2 (A120V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1035951	NM_001349884.2(DRAM2):c.626C>T (p.Thr209Ile)	DRAM2 (T209I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1653667	NM_001349884.2(DRAM2):c.612T>G (p.Leu204=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1059882	NM_001349884.2(DRAM2):c.607G>A (p.Val203Met)	DRAM2 (V113M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093364	NM_001349884.2(DRAM2):c.601-1G>A	DRAM2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1121249	NM_001349884.2(DRAM2):c.601-6A>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1139505	NM_001349884.2(DRAM2):c.601-10_601-9inv	DRAM2	Inversion (intron variant)	not provided	GLikely benign
Select item 677168	NM_001349884.2(DRAM2):c.601-9A>G	DRAM2	Single nucleotide variant (intron variant)	Cone-rod dystrophy 21 +1 more	GBenign
Select item 1539892	NM_001349884.2(DRAM2):c.601-11C>G	DRAM2	Single nucleotide variant (intron variant)	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 1641694	NM_001349884.2(DRAM2):c.600+18A>G	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 1532983	NM_001349884.2(DRAM2):c.600+13A>T	DRAM2	Single nucleotide variant (intron variant)	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 851651	NM_001349884.2(DRAM2):c.600+6A>T	DRAM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1100111	NM_001349884.2(DRAM2):c.594G>A (p.Glu198=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1126744	NM_001349884.2(DRAM2):c.582T>C (p.His194=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1450137	NM_001349884.2(DRAM2):c.581A>G (p.His194Arg)	DRAM2 (H64R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1011932	NM_001349884.2(DRAM2):c.571C>G (p.Gln191Glu)	DRAM2 (Q101E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 369954	NM_001349884.2(DRAM2):c.568G>T (p.Glu190Ter)	DRAM2 (E190* +2 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod dystrophy 21	GLikely pathogenic
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 1427746	NM_001349884.2(DRAM2):c.539T>G (p.Leu180Trp)	DRAM2 (L180W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2791885	NM_001349884.2(DRAM2):c.518-4A>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 1150601	NM_001349884.2(DRAM2):c.518-8T>C	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 1288650	NM_001349884.2(DRAM2):c.517+98T>C	DRAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1925775	NM_001349884.2(DRAM2):c.517+18A>G	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 2116931	NM_001349884.2(DRAM2):c.517+5C>A	DRAM2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2156657	NM_001349884.2(DRAM2):c.516C>T (p.Ser172=)	DRAM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1465528	NM_001349884.2(DRAM2):c.502G>A (p.Val168Ile)	DRAM2 (V168I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 192239	NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter)	DRAM2 (W165* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic
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 842447	NM_001349884.2(DRAM2):c.483G>T (p.Leu161Phe)	DRAM2 (L71F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1078401	NM_001349884.2(DRAM2):c.480G>A (p.Leu160=)	DRAM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1439903	NM_001349884.2(DRAM2):c.479T>C (p.Leu160Pro)	DRAM2 (L70P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1133311	NM_001349884.2(DRAM2):c.465C>T (p.Val155=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1144924	NM_001349884.2(DRAM2):c.426T>G (p.Leu142=)	DRAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 423554	NM_001349884.2(DRAM2):c.419C>G (p.Thr140Ser)	DRAM2 (T140S +2 more)	Single nucleotide variant (missense variant +1 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 837886	NM_001349884.2(DRAM2):c.403T>C (p.Tyr135His)	DRAM2 (Y45H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1353755	NM_001349884.2(DRAM2):c.395G>A (p.Gly132Asp)	DRAM2 (G132D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1139660	NM_001349884.2(DRAM2):c.387T>C (p.Phe129=)	DRAM2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1377626	NM_001349884.2(DRAM2):c.386T>C (p.Phe129Ser)	DRAM2 (F39S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 192237	NM_001349884.2(DRAM2):c.362A>T (p.His121Leu)	DRAM2 (H121L +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
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 866620	NM_001349884.2(DRAM2):c.340-2A>G	DRAM2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1955109	NM_001349884.2(DRAM2):c.340-9A>C	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 1148380	NM_001349884.2(DRAM2):c.340-13_340-10del	DRAM2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2091825	NM_001349884.2(DRAM2):c.340-11C>G	DRAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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