ClinVar for MedGen (Select 816737) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21002681.	NM_001069.3(TUBB2A):c.875A>G (p.Gln292Arg) GRCh37: Chr6:3154560 GRCh38: Chr6:3154326	TUBB2A	Q207R, Q292R	Complex cortical dysplasia with other brain malformations 5, not provided	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 19957892.	NM_001069.3(TUBB2A):c.266A>G (p.Asn89Ser) GRCh37: Chr6:3155870 GRCh38: Chr6:3155636	TUBB2A	N89S	not provided	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 19293793.	NM_001069.3(TUBB2A):c.689C>T (p.Ser230Leu) GRCh37: Chr6:3154746 GRCh38: Chr6:3154512	TUBB2A	S230L, S145L	Complex cortical dysplasia with other brain malformations 5, not provided	Pathogenic/Likely pathogenic (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16854684.	NM_001069.3(TUBB2A):c.148T>C (p.Tyr50His) GRCh37: Chr6:3156296 GRCh38: Chr6:3156062	TUBB2A	Y50H	Complex cortical dysplasia with other brain malformations 5	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 13200685.	NM_001069.3(TUBB2A):c.5G>A (p.Arg2His) GRCh37: Chr6:3157693 GRCh38: Chr6:3157459	LOC129995635, TUBB2A	R2H	not provided, Complex cortical dysplasia with other brain malformations 5	Conflicting interpretations of pathogenicity (Dec 8, 2022)	criteria provided, conflicting interpretations
Select item 13199196.	NM_001069.3(TUBB2A):c.928T>C (p.Tyr310His) GRCh37: Chr6:3154507 GRCh38: Chr6:3154273	TUBB2A	Y225H, Y310H	Complex cortical dysplasia with other brain malformations 5	Uncertain significance (Sep 30, 2021)	no assertion criteria provided
Select item 12136057.	NM_001069.3(TUBB2A):c.967A>C (p.Met323Leu) GRCh37: Chr6:3154468 GRCh38: Chr6:3154234	TUBB2A	M238L, M323L	not provided, Complex cortical dysplasia with other brain malformations 5	Likely pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10654438.	NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr) GRCh37: Chr6:3154363 GRCh38: Chr6:3154129	TUBB2A	P273T, P358T	Complex cortical dysplasia with other brain malformations 5	Likely pathogenic (Apr 25, 2019)	criteria provided, single submitter
Select item 10310179.	NM_001069.3(TUBB2A):c.1073C>T (p.Pro358Leu) GRCh37: Chr6:3154362 GRCh38: Chr6:3154128	TUBB2A	P273L, P358L	Complex cortical dysplasia with other brain malformations 5	Likely pathogenic (Mar 29, 2019)	criteria provided, single submitter
Select item 97918510.	NM_001069.3(TUBB2A):c.935C>T (p.Thr312Met) GRCh37: Chr6:3154500 GRCh38: Chr6:3154266	TUBB2A	T227M, T312M	Complex cortical dysplasia with other brain malformations 5	Uncertain significance (Jul 8, 2020)	criteria provided, single submitter
Select item 97599711.	NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg) GRCh37: Chr6:3155143 GRCh38: Chr6:3154909	TUBB2A	G13R, G98R	Complex cortical dysplasia with other brain malformations 5, TUBB2A-related condition	Pathogenic/Likely pathogenic (Mar 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 81394212.	NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu) GRCh37: Chr6:3154336 GRCh38: Chr6:3154102	TUBB2A	F282L, F367L	Complex cortical dysplasia with other brain malformations 5	Uncertain significance (Dec 3, 2018)	criteria provided, single submitter
Select item 80092413.	NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val) GRCh37: Chr6:3154257 GRCh38: Chr6:3154023	TUBB2A	A308V, A393V	Complex cortical dysplasia with other brain malformations 5	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 63553014.	NM_001069.3(TUBB2A):c.278-7C>T GRCh37: Chr6:3155164 GRCh38: Chr6:3154930	TUBB2A		Complex cortical dysplasia with other brain malformations 5	Uncertain significance (Dec 12, 2018)	no assertion criteria provided
Select item 54613815.	NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) GRCh37: Chr6:3154707 GRCh38: Chr6:3154473	TUBB2A	P243L, P158L	not provided, Complex cortical dysplasia with other brain malformations 5	Conflicting interpretations of pathogenicity (Apr 17, 2023)	criteria provided, conflicting interpretations
Select item 52190016.	NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) GRCh37: Chr6:3154264 GRCh38: Chr6:3154030	TUBB2A	R391C, R306C	Complex cortical dysplasia with other brain malformations 5, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 21, 2020)	criteria provided, conflicting interpretations
Select item 44911317.	NM_001069.3(TUBB2A):c.580G>A (p.Glu194Lys) GRCh37: Chr6:3154855 GRCh38: Chr6:3154621	TUBB2A	E194K, E109K	not provided, Complex cortical dysplasia with other brain malformations 5	Pathogenic/Likely pathogenic (Sep 19, 2017)	criteria provided, multiple submitters, no conflicts
Select item 43712418.	NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr) GRCh37: Chr6:3154272 GRCh38: Chr6:3154038	TUBB2A	M388T, M303T	not provided, not specified	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 42173919.	NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) GRCh37: Chr6:3155143 GRCh38: Chr6:3154909	TUBB2A	G98R, G13R	Complex cortical dysplasia with other brain malformations 5, not provided	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42161320.	NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser) GRCh37: Chr6:3155041 GRCh38: Chr6:3154807	TUBB2A	G132S, G47S	Complex cortical dysplasia with other brain malformations 5, not provided	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38209621.	NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) GRCh37: Chr6:3154263 GRCh38: Chr6:3154029	TUBB2A	R391H, R306H	not provided, See cases, Complex cortical dysplasia with other brain malformations 5	Conflicting interpretations of pathogenicity (Jun 21, 2022)	criteria provided, conflicting interpretations
Select item 38093222.	NM_001069.3(TUBB2A):c.167-19C>T GRCh37: Chr6:3155988 GRCh38: Chr6:3155754	TUBB2A		Complex cortical dysplasia with other brain malformations 5, not provided, not specified	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37883523.	NM_001069.3(TUBB2A):c.564T>G (p.Ser188=) GRCh37: Chr6:3154871 GRCh38: Chr6:3154637	TUBB2A		not provided, Complex cortical dysplasia with other brain malformations 5, not specified	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37286724.	NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys) GRCh37: Chr6:3154833 GRCh38: Chr6:3154599	TUBB2A	S201C, S116C	Complex cortical dysplasia with other brain malformations 5, not specified	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 21849925.	NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr) GRCh37: Chr6:3154882 GRCh38: Chr6:3154648	TUBB2A	A185T, A100T	Complex cortical dysplasia with other brain malformations 5, not specified, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21702426.	NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) GRCh37: Chr6:3154563 GRCh38: Chr6:3154329	TUBB2A	Q291P, Q206P	Complex cortical dysplasia with other brain malformations 5, not provided	Conflicting interpretations of pathogenicity (Jul 2, 2022)	criteria provided, conflicting interpretations
Select item 21249527.	NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) GRCh37: Chr6:3154402 GRCh38: Chr6:3154168	TUBB2A	I345F, I260F	Complex cortical dysplasia with other brain malformations 5, TUBB2A-related tubulinopathy	Pathogenic/Likely pathogenic (Dec 9, 2020)	criteria provided, multiple submitters, no conflicts
Select item 12710128.	NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) GRCh37: Chr6:3154692 GRCh38: Chr6:3154458	TUBB2A	A248V, A163V	Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 5, not specified, not provided	Conflicting interpretations of pathogenicity (Dec 8, 2022)	criteria provided, conflicting interpretations
Select item 12710029.	NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) GRCh37: Chr6:3154694 GRCh38: Chr6:3154460	TUBB2A	N247K, N162K	Complex cortical dysplasia with other brain malformations 5	Pathogenic (Feb 4, 2016)	criteria provided, single submitter

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Items: 29