Related gene-specific medical variations for Gene (Select 10382) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370133	NM_006087.3(TUBB4A):c.-117C>G	LOC130063296, TUBB4A (L13V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363489	NM_006087.4(TUBB4A):c.16C>T (p.His6Tyr)	LOC130063295, TUBB4A (H51Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251747	NM_006087.4(TUBB4A):c.-5C>G	LOC130063295, TUBB4A (T44S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2915277	NM_006087.4(TUBB4A):c.57+11A>G	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2752811	NM_006087.4(TUBB4A):c.24G>T (p.Gln8His)	LOC130063295, TUBB4A (Q8H +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2636667	NM_001289123.2(TUBB4A):c.56C>A (p.Pro19Gln)	LOC130063296, TUBB4A (P13Q +1 more)	Single nucleotide variant (missense variant +1 more)	TUBB4A-related disorder	GUncertain significance
Select item 2442020	NM_006087.4(TUBB4A):c.211G>A (p.Gly71Ser)	TUBB4A (G116S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
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 2438437	NM_006087.4(TUBB4A):c.537G>A (p.Val179=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2062405	NM_006087.4(TUBB4A):c.36C>T (p.Cys12=)	LOC130063295, TUBB4A	Single nucleotide variant (synonymous variant +2 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1630762	NM_006087.4(TUBB4A):c.57+7G>C	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1600019	NM_006087.4(TUBB4A):c.57+12A>G	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GBenign
Select item 1585239	NM_006087.4(TUBB4A):c.57+13C>T	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1550956	NM_006087.4(TUBB4A):c.57+20C>T	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GBenign
Select item 1328535	NM_006087.4(TUBB4A):c.34T>C (p.Cys12Arg)	LOC130063295, TUBB4A (C12R +2 more)	Single nucleotide variant (missense variant +2 more)	TUBB4A-related hypomyelinating leukodystrophy and/or torsion dystonia	GUncertain significance
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 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 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 670260	NM_006087.4(TUBB4A):c.57+30G>T	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506901	NM_006087.4(TUBB4A):c.-31C>A	LOC130063295, TUBB4A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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
Select item 267781	NM_006087.3:c.900C>A	TUBB4A	Single nucleotide variant	Hypomyelinating leukodystrophy 6	GPathogenic
Select item 267773	NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp)	LOC130063295, TUBB4A (R53W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 139452	NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)	LOC130063295, TUBB4A (R2Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6 +1 more	GPathogenic
Select item 50984	NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly)	LOC130063295, TUBB4A (R2G +2 more)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 4	GPathogenic

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Links from Gene

Items: 25