"Kariminejad - Najmabadi Pathology & Genetics Center"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180819	NM_000260.4(MYO7A):c.75_82del (p.Ala26fs)	MYO7A (A15fs +1 more)	Deletion (frameshift variant)	Ear malformation	GLikely pathogenic
Select item 43143	NM_000260.4(MYO7A):c.1344-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +5 more	GPathogenic
Select item 802705	NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)	MYO7A (R559* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 964372	NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)	MYO7A (R1240W +1 more)	Single nucleotide variant (missense variant)	Ear malformation +2 more	GPathogenic/Likely pathogenic
Select item 658273	NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)	MYO7A (R1690* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 1180739	NM_000260.4(MYO7A):c.5567del (p.Arg1856fs)	MYO7A (R1807fs +2 more)	Deletion (frameshift variant)	Ear malformation	GPathogenic
Select item 1180609	NM_000260.4(MYO7A):c.6028G>T (p.Asp2010Tyr)	MYO7A (D1961Y +2 more)	Single nucleotide variant (missense variant)	Ear malformation	GLikely pathogenic
Select item 551533	NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)	MYO7A (D2010N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic

ClinVar