C2931206[trait identifier] AND "ClinGen Hearing Loss Variant Curation - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802700	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)	MYO7A (G7R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43201	NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)	MYO7A	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 43325	NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)	MYO7A (S211G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 11852	NM_000260.4(MYO7A):c.905G>A (p.Arg302His)	MYO7A (R302H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 43134	NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)	MYO7A (R336H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 555138	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)	MYO7A (R395C +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 517357	NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)	MYO7A (R606H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 556881	NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)	MYO7A (R666Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 177732	NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	MYO7A (A826T +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43185	NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	MYO7A (V843M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43196	NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)	MYO7A (E968D +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GLikely pathogenic FDA Recognized database
Select item 229012	NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)	MYO7A (R1164Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43207	NM_000260.4(MYO7A):c.3503+12_3503+33del	MYO7A	Deletion	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 228282	NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)	MYO7A (K2021R +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GLikely pathogenic FDA Recognized database
Select item 43335	NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)	MYO7A (G2187D +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database