ClinVar for MedGen (Select 816737) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3897572	NM_001069.3(TUBB2A):c.1204G>C (p.Gly402Arg)	TUBB2A (G317R +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 3778745	NM_001069.3(TUBB2A):c.620T>C (p.Leu207Pro)	TUBB2A (L122P +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 3343922	NM_001069.3(TUBB2A):c.853A>C (p.Thr285Pro)	TUBB2A (T200P +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GConflicting classifications of pathogenicity
Select item 3236669	NM_001069.3(TUBB2A):c.609T>G (p.Asp203Glu)	TUBB2A (D118E +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GUncertain significance
Select item 2124428	NM_001069.3(TUBB2A):c.577G>A (p.Val193Met)	TUBB2A (V193M +1 more)	Single nucleotide variant (missense variant)	TUBB2A-related tubulinopathy +1 more	GConflicting classifications of pathogenicity
Select item 2100268	NM_001069.3(TUBB2A):c.875A>G (p.Gln292Arg)	TUBB2A (Q207R +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GConflicting classifications of pathogenicity
Select item 1995789	NM_001069.3(TUBB2A):c.266A>G (p.Asn89Ser)	TUBB2A (N89S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1929379	NM_001069.3(TUBB2A):c.689C>T (p.Ser230Leu)	TUBB2A (S230L +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GPathogenic/Likely pathogenic
Select item 1685468	NM_001069.3(TUBB2A):c.148T>C (p.Tyr50His)	TUBB2A (Y50H)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 1320068	NM_001069.3(TUBB2A):c.5G>A (p.Arg2His)	LOC129995635, TUBB2A (R2H)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 5 +1 more	GConflicting classifications of pathogenicity
Select item 1319919	NM_001069.3(TUBB2A):c.928T>C (p.Tyr310His)	TUBB2A (Y225H +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GUncertain significance
Select item 1213605	NM_001069.3(TUBB2A):c.967A>C (p.Met323Leu)	TUBB2A (M238L +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GLikely pathogenic
Select item 1065443	NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr)	TUBB2A (P273T +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 1031017	NM_001069.3(TUBB2A):c.1073C>T (p.Pro358Leu)	TUBB2A (P273L +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 979185	NM_001069.3(TUBB2A):c.935C>T (p.Thr312Met)	TUBB2A (T227M +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GUncertain significance
Select item 975997	NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg)	TUBB2A (G13R +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GPathogenic/Likely pathogenic
Select item 813942	NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu)	TUBB2A (F282L +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GUncertain significance
Select item 800924	NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val)	TUBB2A (A308V +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 635530	NM_001069.3(TUBB2A):c.278-7C>T	TUBB2A	Single nucleotide variant (synonymous variant +1 more)	Complex cortical dysplasia with other brain malformations 5	GUncertain significance
Select item 546138	NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu)	TUBB2A (P243L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 521900	NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys)	TUBB2A (R391C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449113	NM_001069.3(TUBB2A):c.580G>A (p.Glu194Lys)	TUBB2A (E194K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 437124	NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr)	TUBB2A (M388T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421739	NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)	TUBB2A (G98R +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +2 more	GPathogenic/Likely pathogenic
Select item 421613	NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser)	TUBB2A (G132S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 382096	NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)	TUBB2A (R391H +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +2 more	GConflicting classifications of pathogenicity
Select item 380932	NM_001069.3(TUBB2A):c.167-19C>T	TUBB2A	Single nucleotide variant (intron variant)	Complex cortical dysplasia with other brain malformations 5 +2 more	GBenign/Likely benign
Select item 378835	NM_001069.3(TUBB2A):c.564T>G (p.Ser188=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 372867	NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys)	TUBB2A (S201C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 265284	NM_001069.3(TUBB2A):c.533C>T (p.Thr178Met)	BPHL, TUBB2A (T178M +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GPathogenic/Likely pathogenic
Select item 218499	NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr)	TUBB2A (A185T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 217024	NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro)	TUBB2A (Q291P +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GConflicting classifications of pathogenicity
Select item 212495	NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)	TUBB2A (I345F +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +1 more	GPathogenic/Likely pathogenic
Select item 127101	NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	TUBB2A (A248V +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +2 more	GConflicting classifications of pathogenicity
Select item 127100	NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys)	TUBB2A (N247K +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GPathogenic

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Items: 35