"ClinGen Hearing Loss Variant Curation Expert Panel"[submitter] AND "M - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	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 43230	NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)	MYO7A (I134N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic 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 164664	NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)	MYO7A (L326Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic 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 178667	NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)	MYO7A (Y403C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	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 438172	NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	MYO7A (S617P +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic 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 43186	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	MYO7A (R853H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic 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 179479	NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)	MYO7A (R1168Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic 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 196099	NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)	MYO7A (S1176N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 438177	NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)	MYO7A (N1182K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 178283	NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)	MYO7A (S1276L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 866837	NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)	MYO7A (A1277P +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 224749	NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)	MYO7A (V1372G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43292	NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)	MYO7A (R1873Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 43298	NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)	MYO7A (L1935P +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic 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 164724	NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)	MYO7A (T2109I +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29