ClinVar for MedGen (Select 1631916) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16854671.	NM_178014.4(TUBB):c.45G>C (p.Gln15His) GRCh37: Chr6:30688328 GRCh38: Chr6:30720551	TUBB	Q15H	Multiple benign circumferential skin creases on limbs 1	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 11725212.	NM_178014.4(TUBB):c.316T>G (p.Tyr106Asp) GRCh37: Chr6:30691155 GRCh38: Chr6:30723378	TUBB	Y106D, Y126D, Y34D, Y62D	Complex cortical dysplasia with other brain malformations 6, Multiple benign circumferential skin creases on limbs 1	Likely pathogenic (Feb 24, 2021)	criteria provided, single submitter
Select item 10317533.	NM_178014.4(TUBB):c.161C>T (p.Ala54Val) GRCh37: Chr6:30690417 GRCh38: Chr6:30722640	TUBB	A54V, A74V	Complex cortical dysplasia with other brain malformations 6, Multiple benign circumferential skin creases on limbs 1	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9851934.	NM_178014.4(TUBB):c.244G>C (p.Gly82Arg) GRCh37: Chr6:30690772 GRCh38: Chr6:30722995	TUBB	G102R, G10R, G38R, G82R	Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 6, Multiple benign circumferential skin creases on limbs 1	Uncertain significance (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4385865.	NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) GRCh37: Chr6:30691699 GRCh38: Chr6:30723922	TUBB	P287L, P307L, P215L, P243L	Complex cortical dysplasia with other brain malformations 6, Multiple benign circumferential skin creases on limbs 1, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 2189266.	NM_178014.4(TUBB):c.665A>T (p.Tyr222Phe) GRCh37: Chr6:30691504 GRCh38: Chr6:30723727	TUBB	Y222F, Y178F, Y150F, Y242F	Multiple benign circumferential skin creases on limbs 1	Pathogenic (Sep 11, 2023)	no assertion criteria provided
Select item 2189257.	NM_178014.4(TUBB):c.43C>A (p.Gln15Lys) GRCh37: Chr6:30688326 GRCh38: Chr6:30720549	TUBB	Q15K	Multiple benign circumferential skin creases on limbs 1	Pathogenic (Apr 1, 2013)	no assertion criteria provided
Select item 1271918.	NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) GRCh37: Chr6:30692040 GRCh38: Chr6:30724263	TUBB	E401K, E357K, E329K, E421K, E199K	Inborn genetic diseases, Multiple benign circumferential skin creases on limbs 1	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts