USH2A-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	GUncertain significance
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 437432	NC_000001.10:g.216144119_216591855del447737	LOC122152296, LOC126806009 +4 more	Deletion	Usher syndrome type 2A	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 565301	NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup	LOC122152296, LOC132088648 +3 more	Duplication	Usher syndrome type 2A	GPathogenic
Select item 1245102	NM_206933.4(USH2A):c.4251+57del	USH2A, USH2A-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2161567	NM_206933.4(USH2A):c.4251+20del	USH2A, USH2A-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1581675	NM_206933.4(USH2A):c.4251+17C>A	USH2A-AS1, USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655822	NM_206933.4(USH2A):c.4251+12T>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1116064	NM_206933.4(USH2A):c.4251+9A>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327403	NM_206933.4(USH2A):c.4251+3A>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1069779	NM_206933.4(USH2A):c.4251+1del	USH2A, USH2A-AS1	Deletion (splice donor variant)	Usher syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1065706	NM_206933.4(USH2A):c.4251+1G>T	USH2A, USH2A-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 236534	NM_206933.4(USH2A):c.4251+1G>A	USH2A, USH2A-AS1	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1051986	NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)	USH2A, USH2A-AS1 (Q1417H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2754586	NM_206933.4(USH2A):c.4249C>T (p.Gln1417Ter)	USH2A, USH2A-AS1 (Q1417*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2003230	NM_206933.4(USH2A):c.4249C>G (p.Gln1417Glu)	USH2A, USH2A-AS1 (Q1417E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530978	NM_206933.4(USH2A):c.4248A>C (p.Ser1416=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1453227	NM_206933.4(USH2A):c.4246dup (p.Ser1416fs)	USH2A, USH2A-AS1 (S1416fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2852063	NM_206933.4(USH2A):c.4245T>C (p.Phe1415=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936232	NM_206933.4(USH2A):c.4243T>C (p.Phe1415Leu)	USH2A, USH2A-AS1 (F1415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584248	NM_206933.4(USH2A):c.4242G>A (p.Ala1414=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028728	NM_206933.4(USH2A):c.4241C>T (p.Ala1414Val)	USH2A, USH2A-AS1 (A1414V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1400242	NM_206933.4(USH2A):c.4237A>G (p.Met1413Val)	USH2A, USH2A-AS1 (M1413V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651779	NM_206933.4(USH2A):c.4233T>C (p.Ile1411=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1144427	NM_206933.4(USH2A):c.4233T>A (p.Ile1411=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028729	NM_206933.4(USH2A):c.4231A>G (p.Ile1411Val)	USH2A, USH2A-AS1 (I1411V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 850986	NM_206933.4(USH2A):c.4231A>T (p.Ile1411Phe)	USH2A, USH2A-AS1 (I1411F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1151557	NM_206933.4(USH2A):c.4227G>A (p.Gln1409=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2679542	NM_206933.4(USH2A):c.4225C>T (p.Gln1409Ter)	USH2A, USH2A-AS1 (Q1409*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1977727	NM_206933.4(USH2A):c.4224A>G (p.Gln1408=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484504	NM_206933.4(USH2A):c.4223A>G (p.Gln1408Arg)	USH2A, USH2A-AS1 (Q1408R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438021	NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	USH2A, USH2A-AS1 (Q1408*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +5 more	GPathogenic
Select item 1095545	NM_206933.4(USH2A):c.4218A>T (p.Ser1406=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456003	NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)	USH2A-AS1, USH2A (S1406*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic
Select item 813119	NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)	USH2A, USH2A-AS1 (E1404*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1724620	NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)	USH2A, USH2A-AS1 (S1403fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3187072	NM_206933.4(USH2A):c.4199A>G (p.Asn1400Ser)	USH2A, USH2A-AS1 (N1400S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 554392	NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)	USH2A, USH2A-AS1 (I1399fs)	Duplication (frameshift variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 2720239	NM_206933.4(USH2A):c.4191T>C (p.Tyr1397=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791014	NM_206933.4(USH2A):c.4189T>A (p.Tyr1397Asn)	USH2A, USH2A-AS1 (Y1397N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2871669	NM_206933.4(USH2A):c.4188G>T (p.Gly1396=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2201156	NM_206933.4(USH2A):c.4188G>A (p.Gly1396=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 813248	NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)	USH2A-AS1, USH2A (V1395fs)	Microsatellite (frameshift variant)	Usher syndrome type 2	GPathogenic
Select item 2693657	NM_206933.4(USH2A):c.4184del (p.Val1395fs)	USH2A, USH2A-AS1 (V1395fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1506496	NM_206933.4(USH2A):c.4179A>C (p.Lys1393Asn)	USH2A, USH2A-AS1 (K1393N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 551604	NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)	USH2A, USH2A-AS1 (G1392*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1016845	NM_206933.4(USH2A):c.4172G>A (p.Arg1391Lys)	USH2A, USH2A-AS1 (R1391K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355064	NM_206933.4(USH2A):c.4169C>T (p.Thr1390Ile)	USH2A, USH2A-AS1 (T1390I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666946	NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)	USH2A, USH2A-AS1 (T1390R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GUncertain significance
Select item 1111400	NM_206933.4(USH2A):c.4164T>C (p.Asn1388=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191281	NM_206933.4(USH2A):c.4147G>A (p.Glu1383Lys)	USH2A, USH2A-AS1 (E1383K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636120	NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)	USH2A, USH2A-AS1 (W1382C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2202966	NM_206933.4(USH2A):c.4144T>G (p.Trp1382Gly)	USH2A, USH2A-AS1 (W1382G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2202967	NM_206933.4(USH2A):c.4141T>A (p.Ser1381Thr)	USH2A, USH2A-AS1 (S1381T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119322	NM_206933.4(USH2A):c.4141T>C (p.Ser1381Pro)	USH2A, USH2A-AS1 (S1381P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035590	NM_206933.4(USH2A):c.4140C>A (p.Ile1380=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617601	NM_206933.4(USH2A):c.4140C>T (p.Ile1380=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828336	NM_206933.4(USH2A):c.4137T>C (p.Asn1379=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499501	NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser)	USH2A-AS1, USH2A (N1379S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48512	NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)	USH2A, USH2A-AS1 (N1379fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 2024278	NM_206933.4(USH2A):c.4134C>A (p.Leu1378=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866375	NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)	USH2A, USH2A-AS1 (L1378P)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1678222	NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)	USH2A, USH2A-AS1 (S1377T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2169495	NM_206933.4(USH2A):c.4128C>G (p.Tyr1376Ter)	USH2A, USH2A-AS1 (Y1376*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2679487	NM_206933.4(USH2A):c.4125_4126insA (p.Tyr1376fs)	USH2A, USH2A-AS1 (Y1376fs)	Insertion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 930059	NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)	USH2A, USH2A-AS1 (Y1376H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1129873	NM_206933.4(USH2A):c.4125G>A (p.Ser1375=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 418896	NM_206933.4(USH2A):c.4125del (p.Tyr1376fs)	USH2A, USH2A-AS1 (Y1376fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1056888	NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)	USH2A, USH2A-AS1 (S1375L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GConflicting classifications of pathogenicity
Select item 950188	NM_206933.4(USH2A):c.4107_4124del (p.Val1370_Ser1375del)	USH2A, USH2A-AS1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 1387543	NM_206933.4(USH2A):c.4121_4122del (p.Ser1374fs)	USH2A, USH2A-AS1 (S1374fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2760012	NM_206933.4(USH2A):c.4117dup (p.Leu1373fs)	USH2A, USH2A-AS1 (L1373fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1456939	NM_206933.4(USH2A):c.4118del (p.Leu1373fs)	USH2A, USH2A-AS1 (L1373fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1088231	NM_206933.4(USH2A):c.4116C>T (p.Pro1372=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343342	NM_206933.4(USH2A):c.4115C>A (p.Pro1372His)	USH2A, USH2A-AS1 (P1372H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GLikely benign
Select item 2819665	NM_206933.4(USH2A):c.4110C>T (p.Val1370=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071407	NM_206933.4(USH2A):c.4110C>G (p.Val1370=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027863	NM_206933.4(USH2A):c.4108dup (p.Val1370fs)	USH2A, USH2A-AS1 (V1370fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1127048	NM_206933.4(USH2A):c.4107A>C (p.Ser1369=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108686	NM_206933.4(USH2A):c.4107A>G (p.Ser1369=)	USH2A-AS1, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2889380	NM_206933.4(USH2A):c.4104T>C (p.Pro1368=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519603	NM_206933.4(USH2A):c.4102C>A (p.Pro1368Thr)	USH2A, USH2A-AS1 (P1368T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866323	NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)	USH2A, USH2A-AS1 (P1368S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2170620	NM_206933.4(USH2A):c.4100C>T (p.Pro1367Leu)	USH2A, USH2A-AS1 (P1367L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315319	NM_206933.4(USH2A):c.4100C>A (p.Pro1367His)	USH2A, USH2A-AS1 (P1367H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305283	NM_206933.4(USH2A):c.4097T>C (p.Ile1366Thr)	USH2A, USH2A-AS1 (I1366T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014579	NM_206933.4(USH2A):c.4096A>T (p.Ile1366Phe)	USH2A, USH2A-AS1 (I1366F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3187071	NM_206933.4(USH2A):c.4094T>C (p.Met1365Thr)	USH2A, USH2A-AS1 (M1365T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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