C2676244[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 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)	Hypomyelinating leukodystrophy 6 +1 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)	Hypomyelinating leukodystrophy 6 +1 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 +1 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)	Hypomyelinating leukodystrophy 6 +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)	not provided +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)	Hypomyelinating leukodystrophy 6 +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 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 330260	NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=)	TUBB4A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 330261	NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 240288	NM_006087.4(TUBB4A):c.921C>T (p.His307=)	TUBB4A	Single nucleotide variant (synonymous variant)	Torsion dystonia 4 +3 more	GBenign
Select item 212502	NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +3 more	GConflicting classifications of pathogenicity
Select item 330262	NM_006087.4(TUBB4A):c.906G>A (p.Ala302=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +4 more	GBenign/Likely benign
Select item 1256060	NM_006087.4(TUBB4A):c.796T>A (p.Phe266Ile)	TUBB4A (F194I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 330263	NM_006087.4(TUBB4A):c.774T>C (p.Val258=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +2 more	GBenign
Select item 893383	NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +1 more	GConflicting classifications of pathogenicity
Select item 894214	NM_006087.4(TUBB4A):c.630C>T (p.Ile210=)	TUBB4A	Single nucleotide variant (synonymous variant)	Torsion dystonia 4 +1 more	GUncertain significance
Select item 330264	NM_006087.4(TUBB4A):c.624C>T (p.Tyr208=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 894215	NM_006087.4(TUBB4A):c.435C>T (p.Ser145=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6 +1 more	GBenign
Select item 330265	NM_006087.4(TUBB4A):c.342C>T (p.Asp114=)	TUBB4A	Single nucleotide variant (synonymous variant)	Torsion dystonia 4 +2 more	GBenign
Select item 330266	NM_006087.4(TUBB4A):c.210C>T (p.Pro70=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Torsion dystonia 4 +1 more	GBenign/Likely benign
Select item 330267	NM_006087.4(TUBB4A):c.189G>A (p.Ala63=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6 +3 more	GBenign/Likely benign
Select item 894619	NM_006087.4(TUBB4A):c.167-12G>C	TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 139452	NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)	LOC130063295, TUBB4A (R2Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 330268	NM_006087.4(TUBB4A):c.-62C>T	LOC130063295, TUBB4A (A31V +1 more)	Single nucleotide variant (missense variant +2 more)	Hypomyelinating leukodystrophy 6 +1 more	GBenign

ClinVar

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Items: 42