20774[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 321

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 369298	NM_001289123.1(TUBB4A):c.*856G>A	TUBB4A	Single nucleotide variant	Dystonic disorder +1 more	GLikely benign
Select item 330247	NM_006087.4(TUBB4A):c.*804C>G	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 4 +2 more	GBenign
Select item 893311	NM_006087.4(TUBB4A):c.*800G>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 894152	NM_006087.4(TUBB4A):c.*792C>T	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 330248	NM_006087.4(TUBB4A):c.*725G>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 330249	NM_006087.4(TUBB4A):c.*700T>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 330250	NM_006087.4(TUBB4A):c.*673A>G	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 4 +2 more	GBenign
Select item 894559	NM_006087.4(TUBB4A):c.*633C>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 894560	NM_006087.4(TUBB4A):c.*627A>C	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +2 more	GUncertain significance
Select item 894561	NM_006087.4(TUBB4A):c.*579C>T	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 330251	NM_006087.4(TUBB4A):c.*493C>G	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 330252	NM_006087.4(TUBB4A):c.*440C>T	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 330253	NM_006087.4(TUBB4A):c.*429C>T	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 330254	NM_006087.4(TUBB4A):c.*400G>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 4 +2 more	GBenign
Select item 893139	NM_006087.4(TUBB4A):c.*304C>T	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 330255	NM_006087.4(TUBB4A):c.*260G>C	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 4 +2 more	GBenign
Select item 330256	NM_006087.4(TUBB4A):c.*111G>C	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 4 +2 more	GBenign
Select item 330257	NM_006087.4(TUBB4A):c.*100G>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 330258	NM_006087.4(TUBB4A):c.*96C>G	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 4 +2 more	GBenign
Select item 894182	NM_006087.4(TUBB4A):c.*86G>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 894183	NM_006087.4(TUBB4A):c.*69C>G	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 330259	NM_006087.4(TUBB4A):c.*53G>A	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Torsion dystonia 4 +1 more	GLikely benign
Select item 894592	NM_006087.4(TUBB4A):c.*36C>G	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 384133	NM_006087.4(TUBB4A):c.*3T>C	TUBB4A	Single nucleotide variant (3 prime UTR variant)	Hypomyelinating leukodystrophy 6 +2 more	GBenign
Select item 2150798	NM_006087.4(TUBB4A):c.1331C>T (p.Ala444Val)	TUBB4A (A489V +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 808426	NM_006087.4(TUBB4A):c.1329G>A (p.Val443=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +1 more	GConflicting classifications of pathogenicity
Select item 2203588	NM_006087.4(TUBB4A):c.1316_1327del (p.Ala439_Glu442del)	TUBB4A	Deletion (inframe_deletion)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1569277	NM_006087.4(TUBB4A):c.1317G>A (p.Ala439=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 711720	NM_006087.4(TUBB4A):c.1317G>T (p.Ala439=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 656505	NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val)	TUBB4A (A367V +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 537238	NM_006087.4(TUBB4A):c.1316C>A (p.Ala439Glu)	TUBB4A (A439E +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 623920	NM_006087.4(TUBB4A):c.1311G>A (p.Glu437=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +1 more	GLikely benign
Select item 771992	NM_006087.4(TUBB4A):c.1305C>T (p.Phe435=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 695894	NM_006087.4(TUBB4A):c.1299C>T (p.Gly433=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +2 more	GBenign/Likely benign
Select item 3250838	NM_006087.4(TUBB4A):c.1290C>T (p.Ala430=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442015	NM_006087.4(TUBB4A):c.1289C>A (p.Ala430Asp)	TUBB4A (A358D +3 more)	Single nucleotide variant (missense variant)	Torsion dystonia 4	GUncertain significance
Select item 2649137	NM_006087.4(TUBB4A):c.1287G>C (p.Thr429=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330260	NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1662579	NM_006087.4(TUBB4A):c.1281C>T (p.Asp427=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 3239537	NM_006087.4(TUBB4A):c.1276C>G (p.Gln426Glu)	TUBB4A (Q354E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985423	NM_006087.4(TUBB4A):c.1240A>T (p.Asn414Tyr)	TUBB4A (N342Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 135658	NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	TUBB4A (E410K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2723541	NM_006087.4(TUBB4A):c.1216A>T (p.Met406Leu)	TUBB4A (M334L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1366727	NM_006087.4(TUBB4A):c.1213G>A (p.Glu405Lys)	TUBB4A (E450K +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2413474	NM_006087.4(TUBB4A):c.1206C>T (p.Gly402=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1531104	NM_006087.4(TUBB4A):c.1200C>G (p.Gly400=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1018644	NM_006087.4(TUBB4A):c.1200C>T (p.Gly400=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2742251	NM_006087.4(TUBB4A):c.1198G>A (p.Gly400Ser)	TUBB4A (G400S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1440094	NM_006087.4(TUBB4A):c.1197G>A (p.Thr399=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2874297	NM_006087.4(TUBB4A):c.1196C>T (p.Thr399Met)	TUBB4A (T327M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 689794	NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser)	TUBB4A (F445S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GLikely pathogenic
Select item 267794	NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys)	TUBB4A (F445C +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	Gnot provided
Select item 993812	NM_006087.4(TUBB4A):c.1178C>T (p.Ala393Val)	TUBB4A (A321V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 419697	NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu)	TUBB4A (R391L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GConflicting classifications of pathogenicity
Select item 267793	NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)	TUBB4A (R442H +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GPathogenic/Likely pathogenic
Select item 267792	NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)	TUBB4A (M439I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GPathogenic
Select item 209201	NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)	TUBB4A (M388I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GPathogenic/Likely pathogenic
Select item 267791	NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr)	TUBB4A (M439T +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GConflicting classifications of pathogenicity
Select item 267790	NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val)	TUBB4A (M439V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1697189	NM_006087.4(TUBB4A):c.1160C>A (p.Ala387Asp)	TUBB4A (A315D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931790	NM_006087.4(TUBB4A):c.1155C>A (p.Phe385Leu)	TUBB4A (F430L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1590968	NM_006087.4(TUBB4A):c.1146C>T (p.Ser382=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2506875	NM_006087.4(TUBB4A):c.1139G>T (p.Arg380Leu)	TUBB4A (R308L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001566	NM_006087.4(TUBB4A):c.1131G>A (p.Leu377=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1904515	NM_006087.4(TUBB4A):c.1125G>A (p.Gln375=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2183933	NM_006087.4(TUBB4A):c.1104C>T (p.Ile368=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 267789	NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu)	TUBB4A (F418L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 267788	NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile)	TUBB4A (F418I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	Gnot provided
Select item 330261	NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=)	TUBB4A	Single nucleotide variant (synonymous variant)	Torsion dystonia 4 +2 more	GBenign/Likely benign
Select item 2197979	NM_006087.4(TUBB4A):c.1093G>A (p.Ala365Thr)	TUBB4A (A416T +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1200742	NM_006087.4(TUBB4A):c.1092C>T (p.Ala364=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +1 more	GLikely benign
Select item 267787	NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp)	TUBB4A (A415D +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	Gnot provided
Select item 2963390	NM_006087.4(TUBB4A):c.1080C>A (p.Gly360=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2834880	NM_006087.4(TUBB4A):c.1078G>C (p.Gly360Arg)	TUBB4A (G405R +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1620015	NM_006087.4(TUBB4A):c.1077C>T (p.Arg359=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1920424	NM_006087.4(TUBB4A):c.1074C>T (p.Pro358=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1571122	NM_006087.4(TUBB4A):c.1071G>A (p.Pro357=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 807518	NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu)	TUBB4A (D283E +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 453295	NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp)	TUBB4A (C354W +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GLikely pathogenic
Select item 267786	NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr)	TUBB4A (C405Y +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	Gnot provided
Select item 2135411	NM_006087.4(TUBB4A):c.1060T>A (p.Cys354Ser)	TUBB4A (C282S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1305280	NM_006087.4(TUBB4A):c.1055_1057del (p.Ala352del)	TUBB4A (A280del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 807519	NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser)	TUBB4A (A397S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 267785	NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr)	TUBB4A (A403T +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1149372	NM_006087.4(TUBB4A):c.1053G>A (p.Thr351=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 3336788	NM_006087.4(TUBB4A):c.1052C>T (p.Thr351Met)	TUBB4A (T279M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 871906	NM_006087.4(TUBB4A):c.1049A>C (p.Lys350Thr)	TUBB4A (K278T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2963795	NM_006087.4(TUBB4A):c.1045G>A (p.Val349Met)	TUBB4A (V400M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 703401	NM_006087.4(TUBB4A):c.1044C>T (p.Asn348=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign/Likely benign
Select item 2895757	NM_006087.4(TUBB4A):c.1038C>A (p.Pro346=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 522029	NM_006087.4(TUBB4A):c.1030T>C (p.Trp344Arg)	TUBB4A (W344R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1627486	NM_006087.4(TUBB4A):c.1029G>A (p.Glu343=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2900834	NM_006087.4(TUBB4A):c.1024G>A (p.Val342Met)	TUBB4A (V270M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 930298	NM_006087.4(TUBB4A):c.1021T>C (p.Phe341Leu)	TUBB4A (F269L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 1979410	NM_006087.4(TUBB4A):c.998T>C (p.Val333Ala)	TUBB4A (V261A +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2721401	NM_006087.4(TUBB4A):c.996C>T (p.Ser332=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign

<< First< Prev

Page of 4