ClinVar for MedGen (Select 815750) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338057	NM_001070.5(TUBG1):c.664A>C (p.Asn222His)	RETREG3, TUBG1 (N222H)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 3236666	NM_001070.5(TUBG1):c.202G>T (p.Asp68Tyr)	TUBG1 (D68Y)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 3236665	NM_001070.5(TUBG1):c.1131G>T (p.Met377Ile)	TUBG1 (M377I)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2690399	NM_001070.5(TUBG1):c.1136C>G (p.Ala379Gly)	TUBG1 (A379G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2571995	NM_001070.5(TUBG1):c.757C>T (p.Leu253Phe)	TUBG1 (L253F)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4 +1 more	GUncertain significance
Select item 2438439	NM_001070.5(TUBG1):c.1157C>T (p.Ser386Leu)	TUBG1 (S386L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2438438	NM_001070.5(TUBG1):c.459C>T (p.Leu153=)	TUBG1	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2430135	NM_001070.5(TUBG1):c.421A>C (p.Ile141Leu)	TUBG1 (I141L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 1916205	NM_001070.5(TUBG1):c.607-7C>T	TUBG1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1703182	NM_001070.5(TUBG1):c.725C>T (p.Thr242Ile)	TUBG1 (T242I)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 1526152	NM_001070.5(TUBG1):c.821C>A (p.Thr274Asn)	TUBG1 (T274N)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 977875	NM_001070.5(TUBG1):c.925C>T (p.Arg309Ter)	TUBG1 (R309*)	Single nucleotide variant (nonsense)	Complex cortical dysplasia with other brain malformations 4	GLikely benign
Select item 813950	NM_001070.5(TUBG1):c.618C>G (p.Asp206Glu)	TUBG1 (D206E)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 782914	NM_001070.5(TUBG1):c.813C>T (p.Thr271=)	TUBG1	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 4 +1 more	GBenign/Likely benign
Select item 452987	NM_001070.5(TUBG1):c.1022G>A (p.Arg341Gln)	TUBG1 (R341Q)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4 +1 more	GPathogenic/Likely pathogenic
Select item 380875	NM_001070.5(TUBG1):c.1029C>G (p.Arg343=)	TUBG1	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 4 +2 more	GBenign
Select item 373145	NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp)	TUBG1 (R341W)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4 +1 more	GPathogenic/Likely pathogenic
Select item 65399	NM_001070.5(TUBG1):c.991A>C (p.Thr331Pro)	TUBG1 (T331P)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GPathogenic
Select item 65398	NM_001070.5(TUBG1):c.275A>G (p.Tyr92Cys)	TUBG1 (Y92C)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 65397	NM_001070.5(TUBG1):c.1160T>C (p.Leu387Pro)	TUBG1 (L387P)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GPathogenic

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Items: 20