C0854723[trait identifier] AND "ClinGen Hearing Loss Variant Curation - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48468	NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)	USH2A (S5188G)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 429215	NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	USH2A (A4740D)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 178937	NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	USH2A (H4603P)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 556334	NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	USH2A (L4406P)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48409	NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	USH2A (N4292D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic FDA Recognized database
Select item 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 166435	NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	USH2A (T4169A)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 236537	NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	USH2A (R3905C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 73556	NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	USH2A (L3145F)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 197510	NM_206933.4(USH2A):c.8682-9A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48604	NM_206933.4(USH2A):c.8559-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48597	NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	USH2A (A2774T)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 224753	NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	USH2A (P2149Q)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 48544	NM_206933.4(USH2A):c.5857+2T>C	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 48535	NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	USH2A, USH2A-AS2 (G1861S)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 265979	NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)	USH2A, USH2A-AS2 (V1839E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 179773	NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	USH2A, USH2A-AS2 (G1671D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic FDA Recognized database
Select item 166504	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A (R1504fs)	Duplication	Usher syndrome	GPathogenic FDA Recognized database
Select item 2353	NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)	USH2A (C1447fs)	Microsatellite (frameshift variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 418533	NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	USH2A (C694Y)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 48481	NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	USH2A (D656N)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 48347	NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	USH2A (N346H)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 2355	NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	USH2A (C319Y)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic 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 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 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 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

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: 31