C0271097[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar - NCBI

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	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 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 48459	NM_206933.4(USH2A):c.15297+3A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GBenign FDA Recognized database
Select item 48449	NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	USH2A (R4971*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 504509	NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	USH2A (P4818L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 198366	NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	USH2A (A4807T)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 177913	NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)	USH2A (G4759E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 177859	NM_206933.3(USH2A):c.12295-?_14133+?del	USH2A	Deletion	Usher syndrome	GLikely pathogenic 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 48417	NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	USH2A (P4466S)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 198344	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A (T4439I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 48406	NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)	USH2A (G4247R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 228311	NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)	USH2A (T4234P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GConflicting classifications of pathogenicity
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	Usher syndrome +7 more	GConflicting classifications of pathogenicity
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 48388	NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	USH2A (W3985*)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Hearing impairment +10 more	GPathogenic
Select item 506273	NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)	USH2A (Y3747*)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48355	NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	USH2A (T3571M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +7 more	GPathogenic/Likely pathogenic
Select item 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +6 more	GPathogenic/Likely pathogenic
Select item 229613	NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)	USH2A (M3392K)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GUncertain significance
Select item 197932	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A (C3358Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GPathogenic/Likely pathogenic
Select item 48628	NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)	USH2A (C3153*)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +7 more	GPathogenic/Likely pathogenic
Select item 48624	NM_206933.4(USH2A):c.9371+1G>C	USH2A	Single nucleotide variant (splice donor variant)	Rare genetic deafness +4 more	GPathogenic
Select item 48612	NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)	USH2A (L3024H)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GConflicting classifications of pathogenicity
Select item 48611	NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	USH2A (W2994*)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 228416	NM_206933.4(USH2A):c.8681+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 179542	NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)	USH2A (G2726E)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 517494	NM_206933.4(USH2A):c.7524del (p.Arg2509fs)	USH2A (R2509fs)	Deletion (frameshift variant)	Retinal dystrophy +5 more	GPathogenic
Select item 48581	NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	USH2A (S2445F)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 166479	NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	USH2A (V2244M)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166481	NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)	USH2A (T2197I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 503556	NM_206933.2(USH2A):c.4396+6857_6486-425del	LOC126806009, USH2A +1 more	Deletion	Usher syndrome	GPathogenic
Select item 166488	NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)	USH2A (P2078R)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance 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 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Retinal dystrophy +6 more	GPathogenic
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 166499	NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)	USH2A, USH2A-AS2 (K1680R)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance 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 48521	NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)	USH2A (L1572F)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign 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 178581	NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)	USH2A (G1460R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 48511	NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	USH2A, USH2A-AS1 (S1369L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A, USH2A-AS1 (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 48503	NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)	USH2A, USH2A-AS1 (I1183fs)	Microsatellite (frameshift variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 166511	NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	USH2A, USH2A-AS1 (G1132D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 265288	NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)	USH2A, USH2A-AS1 (Q1063fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 48497	NM_206933.4(USH2A):c.3158-6A>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 557167	NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	LOC122152296, USH2A (C870*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +5 more	GPathogenic
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 178583	NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)	LOC122152296, USH2A (D778Y)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa +22 more	GPathogenic
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 503554	NM_206933.2(USH2A):c.1644+10004_1972-12164del	USH2A	Deletion	Usher syndrome	GLikely pathogenic
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 497414	NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)	USH2A (R626*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +5 more	GPathogenic
Select item 549981	NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)	USH2A (C620F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 503555	NM_206933.4(USH2A):c.1803del (p.Gly602fs)	USH2A (G602fs)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2359	NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	USH2A (C419F)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic
Select item 438002	NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)	USH2A (T352I)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
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 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinal dystrophy +7 more	GPathogenic
Select item 48595	NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)	USH2A (R274*)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic
Select item 48592	NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	USH2A (G268R)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 179482	NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)	USH2A (W211*)	Single nucleotide variant (nonsense)	Usher syndrome +2 more	GPathogenic
Select item 1120063	NC_000001.10:g.(?_216011333)_(216040512_?)del	USH2A	Deletion	Usher syndrome	GLikely pathogenic
Select item 503557	NM_206933.2(USH2A):c.(?_4628)_(9371_?)del	USH2A	Deletion	Usher syndrome	GPathogenic
Select item 226993	NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)	LOC126806529, PAX3 (P334S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 48146	NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	CLRN1 (A123D +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 61 +5 more	GPathogenic/Likely pathogenic
Select item 48145	NM_174878.3(CLRN1):c.301_305del (p.Val101fs)	CLRN1 (C158fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 46374	NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)	ADGRV1 (R249K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 46316	NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)	ADGRV1 (G1148D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 6798	NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	ADGRV1 (Q2301*)	Single nucleotide variant (nonsense)	Febrile seizures, familial, 4 +3 more	GPathogenic/Likely pathogenic
Select item 1367599	NM_032119.4(ADGRV1):c.10007C>T (p.Ser3336Phe)	ADGRV1 (S3336F)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +1 more	GConflicting classifications of pathogenicity
Select item 438168	NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	ADGRV1 (Y4266*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome +2 more	GPathogenic
Select item 284544	NM_032119.4(ADGRV1):c.13654-5C>T	ADGRV1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 46275	NM_032119.4(ADGRV1):c.14973-2A>G	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome +3 more	GPathogenic/Likely pathogenic
Select item 229240	NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)	SERPINB6 (S109Y +4 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 46464	NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	PCDH15 (R1106* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +5 more	GPathogenic/Likely pathogenic
Select item 667386	NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)	PCDH15 (N352fs +3 more)	Deletion (frameshift variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 228491	NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	CDH23, CDH23-AS1 (D127G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 228484	NM_022124.6(CDH23):c.1515-12G>A	CDH23	Single nucleotide variant (intron variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 45883	NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)	CDH23 (A605V)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +5 more	GConflicting classifications of pathogenicity
Select item 228328	NC_000010.11:g.71682535dup	CDH23 (L651fs)	Duplication	Usher syndrome +1 more	GPathogenic
Select item 300415	NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)	CDH23 (R842W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 4927	NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)	C10orf105, CDH23 (T1209A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GBenign FDA Recognized database
Select item 178685	NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	C10orf105, CDH23 (R1334W)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 4916	NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	CDH23 (R1746Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +9 more	GPathogenic
Select item 45974	NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)	CDH23 (R1771Q)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GBenign/Likely benign
Select item 45987	NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)	CDH23 (T1887I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 4922	NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)	CDH23 (D2148N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +5 more	GPathogenic/Likely pathogenic
Select item 46014	NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	CDH23 (P2205L)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 46029	NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)	CDH23	Single nucleotide variant (synonymous variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 162946	NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)	CDH23 (V2764M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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