ClinVar for MedGen (Select 862720) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572464	NM_178014.4(TUBB):c.443G>C (p.Gly148Ala)	TUBB (G104A +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 2500912	NM_178014.4(TUBB):c.852del (p.Thr285fs)	TUBB (T213fs +3 more)	Deletion (frameshift variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 2443069	NM_178014.4(TUBB):c.260C>T (p.Pro87Leu)	TUBB (P107L +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 2136013	NM_178014.4(TUBB):c.155A>G (p.Asn52Ser)	TUBB (N72S +1 more)	Single nucleotide variant (missense variant +3 more)	Complex cortical dysplasia with other brain malformations 6 +1 more	GLikely pathogenic
Select item 1806220	NM_178014.4(TUBB):c.331G>A (p.Glu111Lys)	TUBB (E111K +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 1709915	NM_178014.4(TUBB):c.670G>T (p.Asp224Tyr)	TUBB (D152Y +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 1705480	NM_178014.4(TUBB):c.506T>C (p.Val169Ala)	TUBB (V125A +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 1339905	NM_178014.4(TUBB):c.917G>C (p.Arg306Pro)	TUBB (R234P +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1333849	NM_178014.4(TUBB):c.710C>G (p.Thr237Ser)	TUBB (T165S +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 1308242	NM_178014.4(TUBB):c.352G>T (p.Asp118Tyr)	TUBB (D118Y +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 6 +1 more	GUncertain significance
Select item 1251922	NM_178014.4(TUBB):c.299A>G (p.Asn100Ser)	TUBB (N100S +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 1172672	NM_178014.4(TUBB):c.961A>G (p.Met321Val)	TUBB (M249V +3 more)	Single nucleotide variant (missense variant +2 more)	Abnormal brain morphology +1 more	GPathogenic
Select item 1172521	NM_178014.4(TUBB):c.316T>G (p.Tyr106Asp)	TUBB (Y106D +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 6 +1 more	GLikely pathogenic
Select item 1031753	NM_178014.4(TUBB):c.161C>T (p.Ala54Val)	TUBB (A54V +1 more)	Single nucleotide variant (missense variant +3 more)	Complex cortical dysplasia with other brain malformations 6 +1 more	GUncertain significance
Select item 1030361	NM_178014.4(TUBB):c.599A>G (p.Tyr200Cys)	TUBB (Y220C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 985193	NM_178014.4(TUBB):c.244G>C (p.Gly82Arg)	TUBB (G102R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 977846	NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)	TUBB (E219K +4 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GPathogenic
Select item 976678	NM_178014.4(TUBB):c.139A>G (p.Ile47Val)	TUBB (I47V +1 more)	Single nucleotide variant (missense variant +3 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 807517	NM_178014.4(TUBB):c.448C>T (p.Leu150Phe)	TUBB (L150F +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GLikely pathogenic
Select item 802193	NM_178014.4(TUBB):c.266A>C (p.Asn89Thr)	TUBB (N89T +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GUncertain significance
Select item 438586	NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	TUBB (P287L +3 more)	Single nucleotide variant (missense variant +1 more)	Multiple benign circumferential skin creases on limbs 1 +2 more	GConflicting classifications of pathogenicity
Select item 235892	NM_178014.4(TUBB):c.662C>T (p.Thr221Ile)	TUBB (T221I +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GPathogenic
Select item 127191	NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)	TUBB (E401K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 127190	NM_178014.4(TUBB):c.1057G>A (p.Val353Ile)	TUBB (V353I +4 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6	GPathogenic
Select item 127189	NM_178014.4(TUBB):c.895A>G (p.Met299Val)	TUBB (M299V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic

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Items: 25