57570[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 1366929	NM_020810.3(TRMT5):c.1527T>G (p.Thr509=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2109265	NM_020810.3(TRMT5):c.1525A>G (p.Thr509Ala)	TRMT5 (T537A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636831	NM_020810.3(TRMT5):c.1512A>G (p.Gln504=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174484	NM_020810.3(TRMT5):c.1500C>T (p.Asp500=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731840	NM_020810.3(TRMT5):c.1482G>A (p.Thr494=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692099	NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met)	TRMT5 (T494M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2073817	NM_020810.3(TRMT5):c.1462C>T (p.Pro488Ser)	TRMT5 (P515S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713372	NM_020810.3(TRMT5):c.1461A>G (p.Pro487=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1645348	NM_020810.3(TRMT5):c.1459C>T (p.Pro487Ser)	TRMT5 (P487S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2477091	NM_020810.3(TRMT5):c.1457A>T (p.Asp486Val)	TRMT5 (D514V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1943753	NM_020810.3(TRMT5):c.1456G>T (p.Asp486Tyr)	TRMT5 (D486Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778481	NM_020810.3(TRMT5):c.1450C>T (p.His484Tyr)	TRMT5 (H484Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2151295	NM_020810.3(TRMT5):c.1445-3C>G	TRMT5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2110629	NM_020810.3(TRMT5):c.1444+4A>G	TRMT5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2090302	NM_020810.3(TRMT5):c.1442C>G (p.Pro481Arg)	TRMT5 (P509R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2261306	NM_020810.3(TRMT5):c.1441C>G (p.Pro481Ala)	TRMT5 (P481A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056375	NM_020810.3(TRMT5):c.1421A>C (p.Tyr474Ser)	TRMT5 (Y502S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050603	NM_020810.3(TRMT5):c.1419C>G (p.Leu473=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related disorder	GLikely benign
Select item 2001814	NM_020810.3(TRMT5):c.1417C>T (p.Leu473Phe)	TRMT5 (L473F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414552	NM_020810.3(TRMT5):c.1412C>T (p.Ser471Phe)	TRMT5 (S471F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104101	NM_020810.3(TRMT5):c.1395G>C (p.Thr465=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958542	NM_020810.3(TRMT5):c.1369C>A (p.Pro457Thr)	TRMT5 (P457T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662635	NM_020810.3(TRMT5):c.1365G>A (p.Val455=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172025	NM_020810.3(TRMT5):c.1335A>G (p.Ala445=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426941	NM_020810.3(TRMT5):c.1333G>A (p.Ala445Thr)	TRMT5 (A473T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950655	NM_020810.3(TRMT5):c.1330G>A (p.Glu444Lys)	TRMT5 (E471K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972831	NM_020810.3(TRMT5):c.1320C>T (p.Gly440=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2305778	NM_020810.3(TRMT5):c.1313T>C (p.Val438Ala)	TRMT5 (V466A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2134923	NM_020810.3(TRMT5):c.1309G>A (p.Ala437Thr)	TRMT5 (A437T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010678	NM_020810.3(TRMT5):c.1304C>T (p.Ala435Val)	TRMT5 (A435V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023410	NM_020810.3(TRMT5):c.1300A>C (p.Arg434=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921822	NM_020810.3(TRMT5):c.1299A>C (p.Gln433His)	TRMT5 (Q433H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192566	NM_020810.3(TRMT5):c.1295G>A (p.Arg432Gln)	TRMT5 (R432Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101941	NM_020810.3(TRMT5):c.1289A>C (p.Asp430Ala)	TRMT5 (D430A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717231	NM_020810.3(TRMT5):c.1283C>T (p.Ala428Val)	TRMT5 (A455V +2 more)	Single nucleotide variant (missense variant)	TRMT5-related disorder +1 more	GLikely benign
Select item 1392202	NM_020810.3(TRMT5):c.1282G>A (p.Ala428Thr)	TRMT5 (A428T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915124	NM_020810.3(TRMT5):c.1257T>C (p.Tyr419=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483018	NM_020810.3(TRMT5):c.1247T>C (p.Val416Ala)	TRMT5 (V443A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927229	NM_020810.3(TRMT5):c.1243A>G (p.Ile415Val)	TRMT5 (I443V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109037	NM_020810.3(TRMT5):c.1241C>A (p.Pro414His)	TRMT5 (P441H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414272	NM_020810.3(TRMT5):c.1230T>C (p.Ser410=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779685	NM_020810.3(TRMT5):c.1225A>C (p.Ser409Arg)	TRMT5 (S409R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 692100	NM_020810.3(TRMT5):c.1218G>C (p.Gln406His)	TRMT5 (Q406H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26	GUncertain significance
Select item 2970423	NM_020810.3(TRMT5):c.1200G>A (p.Lys400=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588284	NM_020810.3(TRMT5):c.1192G>A (p.Ala398Thr)	TRMT5 (A398T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3183077	NM_020810.3(TRMT5):c.1180G>C (p.Glu394Gln)	TRMT5 (E421Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189419	NM_020810.3(TRMT5):c.1177A>G (p.Ile393Val)	TRMT5 (I420V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715405	NM_020810.3(TRMT5):c.1171A>G (p.Lys391Glu)	TRMT5 (K391E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372248	NM_020810.3(TRMT5):c.1156A>G (p.Met386Val)	TRMT5 (M386V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26	GPathogenic
Select item 2238409	NM_020810.3(TRMT5):c.1151T>C (p.Val384Ala)	TRMT5 (V384A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1665813	NM_020810.3(TRMT5):c.1150G>A (p.Val384Ile)	TRMT5 (V384I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2117641	NM_020810.3(TRMT5):c.1146G>A (p.Val382=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130380	NM_020810.3(TRMT5):c.1138C>A (p.Pro380Thr)	TRMT5 (P380T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975539	NM_020810.3(TRMT5):c.1138C>T (p.Pro380Ser)	TRMT5 (P407S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710037	NM_020810.3(TRMT5):c.1099G>C (p.Glu367Gln)	TRMT5 (E395Q +2 more)	Single nucleotide variant (missense variant)	TRMT5-related disorder +1 more	GBenign
Select item 2851837	NM_020810.3(TRMT5):c.1098A>G (p.Glu366=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918771	NM_020810.3(TRMT5):c.1090_1093del (p.Val364fs)	TRMT5 (V364fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1986593	NM_020810.3(TRMT5):c.1066G>A (p.Gly356Arg)	TRMT5 (G383R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298583	NM_020810.3(TRMT5):c.1054T>C (p.Phe352Leu)	TRMT5 (F352L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946509	NM_020810.3(TRMT5):c.990T>C (p.Pro330=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749958	NM_020810.3(TRMT5):c.987T>C (p.Asn329=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1995750	NM_020810.3(TRMT5):c.969A>G (p.Val323=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777178	NM_020810.3(TRMT5):c.963C>T (p.Cys321=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094961	NM_020810.3(TRMT5):c.946G>T (p.Val316Leu)	TRMT5 (V316L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176729	NM_020810.3(TRMT5):c.933C>T (p.Pro311=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951309	NM_020810.3(TRMT5):c.927del (p.Phe312fs)	TRMT5 (F312fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1963603	NM_020810.3(TRMT5):c.915T>G (p.Val305=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644272	NM_020810.3(TRMT5):c.888C>G (p.Leu296=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related disorder +1 more	GLikely benign
Select item 1658210	NM_020810.3(TRMT5):c.888C>T (p.Leu296=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692098	NM_020810.3(TRMT5):c.881A>C (p.Glu294Ala)	TRMT5 (E294A +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26 +1 more	GConflicting classifications of pathogenicity
Select item 1960689	NM_020810.3(TRMT5):c.878C>A (p.Thr293Lys)	TRMT5 (T293K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998044	NM_020810.3(TRMT5):c.876C>T (p.Ile292=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372247	NM_020810.3(TRMT5):c.872G>A (p.Arg291His)	TRMT5 (R291H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420167	NM_020810.3(TRMT5):c.860C>T (p.Thr287Ile)	TRMT5 (T287I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922878	NM_020810.3(TRMT5):c.848C>T (p.Pro283Leu)	TRMT5 (P310L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717013	NM_020810.3(TRMT5):c.840T>C (p.Tyr280=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related disorder +1 more	GBenign
Select item 2106872	NM_020810.3(TRMT5):c.835G>C (p.Val279Leu)	TRMT5 (V306L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183080	NM_020810.3(TRMT5):c.821T>G (p.Phe274Cys)	TRMT5 (F274C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923483	NM_020810.3(TRMT5):c.797G>A (p.Arg266Gln)	TRMT5 (R266Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902855	NM_020810.3(TRMT5):c.796C>T (p.Arg266Ter)	TRMT5 (R266* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2014660	NM_020810.3(TRMT5):c.793-4dup	TRMT5	Duplication (intron variant)	not provided	GBenign
Select item 2189233	NM_020810.3(TRMT5):c.793-4del	TRMT5	Deletion (intron variant)	not provided	GBenign
Select item 2776269	NM_020810.3(TRMT5):c.793-12A>C	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992035	NM_020810.3(TRMT5):c.793-17A>G	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014732	NM_020810.3(TRMT5):c.792+18C>T	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896018	NM_020810.3(TRMT5):c.792+17C>T	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941110	NM_020810.3(TRMT5):c.792+8_792+12dup	TRMT5	Duplication (intron variant)	not provided	GLikely benign
Select item 1928099	NM_020810.3(TRMT5):c.792+11T>C	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093705	NM_020810.3(TRMT5):c.792+8T>A	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899227	NM_020810.3(TRMT5):c.792+6T>C	TRMT5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2406245	NM_020810.3(TRMT5):c.781A>G (p.Met261Val)	TRMT5 (M261V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1988167	NM_020810.3(TRMT5):c.774G>A (p.Glu258=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728972	NM_020810.3(TRMT5):c.771A>C (p.Gly257=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796680	NM_020810.3(TRMT5):c.765A>C (p.Leu255=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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