ClinVar for MedGen (Select 1391447) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1255389	NM_005702.4(ERAL1):c.945C>T (p.Asp315=)	ERAL1, LOC126862526	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome 6 +1 more	GBenign
Select item 1031569	NM_005702.4(ERAL1):c.151G>A (p.Ala51Thr)	ERAL1 (A51T)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 6	GUncertain significance
Select item 430638	NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)	ERAL1, LOC126862526 (N236I +1 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 6	GPathogenic

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