ClinVar for MedGen (Select 432724) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369614	NM_000503.5(EYA1):c.*1914T>G	EYA1	Single nucleotide variant	Otofaciocervical syndrome 1 +1 more	GLikely benign
Select item 369075	NM_005982.4(SIX1):c.-255G>T	LOC130055766, SIX1	Single nucleotide variant (5 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 363684	NM_000503.5(EYA1):c.-590C>A	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363683	NM_000503.5(EYA1):c.-589C>A	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363682	NM_000503.5(EYA1):c.-588_-587dup	EYA1	Duplication (intron variant)	Otofaciocervical syndrome 1 +2 more	GUncertain significance
Select item 363681	NM_000503.5(EYA1):c.-588_-587delAA	EYA1	Deletion (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363680	NM_000503.5(EYA1):c.-564_-563delAG	EYA1	Deletion (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363679	NM_000503.5(EYA1):c.-508A>G	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +1 more	GUncertain significance
Select item 363641	NM_000503.6(EYA1):c.509_512del	EYA1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GBenign
Select item 363638	NM_000503.6(EYA1):c.770_773dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 363634	NM_000503.6(EYA1):c.*901dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 363633	NM_000503.6(EYA1):c.1135_1138dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 363631	NM_000503.6(EYA1):c.*1217TTA[1]	EYA1	Microsatellite (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GLikely benign
Select item 363626	NM_000503.6(EYA1):c.1372_1375dup	EYA1	Duplication (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GUncertain significance
Select item 363625	NM_000503.6(EYA1):c.*1561ATCA[3]	EYA1	Microsatellite (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GLikely benign
Select item 313462	NM_005982.4(SIX1):c.*265del	SIX1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +2 more	GBenign
Select item 313461	NM_005982.4(SIX1):c.*268CAAA[2]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 313455	NM_005982.4(SIX1):c.578_581del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 313451	NM_005982.4(SIX1):c.765_766del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 313450	NM_005982.4(SIX1):c.*766del	SIX1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GBenign
Select item 313448	NM_005982.4(SIX1):c.*883CTAGTTT[1]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 313446	NM_005982.4(SIX1):c.*1008del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 313443	NM_005982.4(SIX1):c.*1268AT[1]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 313441	NM_005982.4(SIX1):c.*1571T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance

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Items: 24