ClinVar for MedGen (Select 432724) - ClinVar

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Items: 24

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3696141.	NM_000503.5(EYA1):c.*1914T>G GRCh37: Chr8:72109661 GRCh38: Chr8:71197426	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3690752.	NM_005982.4(SIX1):c.-255G>T GRCh37: Chr14:61116162 GRCh38: Chr14:60649444	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3636843.	NM_000503.5(EYA1):c.-590C>A GRCh37: Chr8:72274417 GRCh38: Chr8:71362182	EYA1	Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3636834.	NM_000503.5(EYA1):c.-589C>A GRCh37: Chr8:72274416 GRCh38: Chr8:71362181	EYA1	Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3636825.	NM_000503.5(EYA1):c.-588_-587dup GRCh37: Chr8:72274390-72274391 GRCh38: Chr8:71362155-71362156	EYA1	Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3636816.	NM_000503.5(EYA1):c.-588_-587delAA GRCh37: Chr8:72274391-72274392 GRCh38: Chr8:71362156-71362157	EYA1	Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3636807.	NM_000503.5(EYA1):c.-564_-563delAG GRCh37: Chr8:72274389-72274390 GRCh38: Chr8:71362154-71362155	EYA1	Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3636798.	NM_000503.5(EYA1):c.-508A>G GRCh37: Chr8:72274335 GRCh38: Chr8:71362100	EYA1	Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3636419.	NM_000503.6(EYA1):c.509_512del GRCh37: Chr8:72111063-72111066 GRCh38: Chr8:71198828-71198831	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36363810.	NM_000503.6(EYA1):c.770_773dup GRCh37: Chr8:72110801-72110802 GRCh38: Chr8:71198566-71198567	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36363411.	NM_000503.6(EYA1):c.*901dup GRCh37: Chr8:72110673-72110674 GRCh38: Chr8:71198438-71198439	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36363312.	NM_000503.6(EYA1):c.1135_1138dup GRCh37: Chr8:72110436-72110437 GRCh38: Chr8:71198201-71198202	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36363113.	NM_000503.6(EYA1):c.*1217TTA[1] GRCh37: Chr8:72110353-72110355 GRCh38: Chr8:71198118-71198120	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36362614.	NM_000503.6(EYA1):c.1372_1375dup GRCh37: Chr8:72110199-72110200 GRCh38: Chr8:71197964-71197965	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36362515.	NM_000503.6(EYA1):c.*1561ATCA[3] GRCh37: Chr8:72110006-72110007 GRCh38: Chr8:71197771-71197772	EYA1	Branchiootorenal Spectrum Disorders, Otofaciocervical syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31346216.	NM_005982.4(SIX1):c.*265del GRCh37: Chr14:61112736 GRCh38: Chr14:60646018	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders, not provided	Benign (Aug 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31346117.	NM_005982.4(SIX1):c.*268CAAA[2] GRCh37: Chr14:61112722-61112725 GRCh38: Chr14:60646004-60646007	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31345518.	NM_005982.4(SIX1):c.578_581del GRCh37: Chr14:61112420-61112423 GRCh38: Chr14:60645702-60645705	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31345119.	NM_005982.4(SIX1):c.765_766del GRCh37: Chr14:61112235-61112236 GRCh38: Chr14:60645517-60645518	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31345020.	NM_005982.4(SIX1):c.*766del GRCh37: Chr14:61112235 GRCh38: Chr14:60645517	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31344821.	NM_005982.4(SIX1):c.*883CTAGTTT[1] GRCh37: Chr14:61112105-61112111 GRCh38: Chr14:60645387-60645393	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31344622.	NM_005982.4(SIX1):c.*1008del GRCh37: Chr14:61111993 GRCh38: Chr14:60645275	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31344323.	NM_005982.4(SIX1):c.*1268AT[1] GRCh37: Chr14:61111730-61111731 GRCh38: Chr14:60645012-60645013	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31344124.	NM_005982.4(SIX1):c.*1571T>C GRCh37: Chr14:61111430 GRCh38: Chr14:60644712	SIX1	Nonsyndromic Hearing Loss, Dominant, Branchiootorenal Spectrum Disorders	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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Items: 24