LOC122152296[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 153535	GRCh38/hg38 1q41(chr1:216244646-216387988)x3	LOC122152296, LOC132088648 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1604002	NM_206933.4(USH2A):c.2809+12A>G	LOC122152296, USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018634	NM_206933.4(USH2A):c.2809+10A>G	LOC122152296, USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1555200	NM_206933.4(USH2A):c.2809+10A>C	LOC122152296, USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009040	NM_206933.4(USH2A):c.2809+9G>T	LOC122152296, USH2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504388	NM_206933.4(USH2A):c.2809+2T>A	USH2A, LOC122152296	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1066803	NM_206933.4(USH2A):c.2809+1G>C	LOC122152296, USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 801616	NM_206933.4(USH2A):c.2809+1G>A	LOC122152296, USH2A	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic
Select item 1071079	NM_206933.4(USH2A):c.2802T>A (p.Cys934Ter)	LOC122152296, USH2A (C934*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	Usher syndrome +5 more	GConflicting classifications of pathogenicity
Select item 856761	NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg)	LOC122152296, USH2A (C934R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1649440	NM_206933.4(USH2A):c.2799G>A (p.Gln933=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder +1 more	GLikely benign
Select item 1389799	NM_206933.4(USH2A):c.2798A>G (p.Gln933Arg)	LOC122152296, USH2A (Q933R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 553620	NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)	LOC122152296, USH2A (Q933*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1572369	NM_206933.4(USH2A):c.2796T>C (p.Asn932=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325998	NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)	LOC122152296, USH2A (C931Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3010915	NM_206933.4(USH2A):c.2790G>T (p.Arg930Ser)	LOC122152296, USH2A (R930S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537569	NM_206933.4(USH2A):c.2788A>T (p.Arg930Trp)	LOC122152296, USH2A (R930W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1352951	NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)	LOC122152296, USH2A (Q927*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 623723	NM_206933.4(USH2A):c.2777G>T (p.Arg926Leu)	LOC122152296, USH2A (R926L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48491	NM_206933.4(USH2A):c.2777G>A (p.Arg926His)	LOC122152296, USH2A (R926H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 551407	NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)	LOC122152296, USH2A (R926C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 228211	NM_206933.4(USH2A):c.2775T>C (p.Asn925=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1136109	NM_206933.4(USH2A):c.2769G>A (p.Val923=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013583	NM_206933.4(USH2A):c.2766T>A (p.Cys922Ter)	LOC122152296, USH2A (C922*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1139070	NM_206933.4(USH2A):c.2761C>T (p.Leu921=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866924	NM_206933.4(USH2A):c.2761del (p.Leu921fs)	LOC122152296, USH2A (L921fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 805744	NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)	LOC122152296, USH2A (L921M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 1143803	NM_206933.4(USH2A):c.2760C>T (p.Cys920=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064809	NM_206933.4(USH2A):c.2757G>A (p.Gln919=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311679	NM_206933.4(USH2A):c.2753G>T (p.Gly918Val)	LOC122152296, USH2A (G918V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931181	NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)	LOC122152296, USH2A (S917N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 3028735	NM_206933.4(USH2A):c.2746A>T (p.Ile916Phe)	LOC122152296, USH2A (I916F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1396332	NM_206933.4(USH2A):c.2746A>G (p.Ile916Val)	LOC122152296, USH2A (I916V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529233	NM_206933.4(USH2A):c.2745A>C (p.Pro915=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1453703	NM_206933.4(USH2A):c.2738del (p.Cys913fs)	LOC122152296, USH2A (C913fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2771001	NM_206933.4(USH2A):c.2733del (p.Ile912fs)	LOC122152296, USH2A (I912fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1082217	NM_206933.4(USH2A):c.2733C>T (p.Thr911=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48490	NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn)	LOC122152296, USH2A (T911N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1726900	NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)	LOC122152296, USH2A (G910fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1387535	NM_206933.4(USH2A):c.2730del (p.Thr911fs)	LOC122152296, USH2A (T911fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2743682	NM_206933.4(USH2A):c.2727T>C (p.Pro909=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991453	NM_206933.4(USH2A):c.2726C>A (p.Pro909His)	LOC122152296, USH2A (P909H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 1634232	NM_206933.4(USH2A):c.2724A>G (p.Leu908=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976221	NM_206933.4(USH2A):c.2723T>C (p.Leu908Ser)	LOC122152296, USH2A (L908S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987349	NM_206933.4(USH2A):c.2710_2720dup (p.Leu908fs)	LOC122152296, USH2A (L908fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 842442	NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile)	LOC122152296, USH2A (T907I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1124785	NM_206933.4(USH2A):c.2718G>A (p.Gly906=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374473	NM_206933.4(USH2A):c.2714del (p.Leu905fs)	LOC122152296, USH2A (L905fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1123376	NM_206933.4(USH2A):c.2713T>C (p.Leu905=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1018385	NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr)	LOC122152296, USH2A (D903Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438017	NM_206933.4(USH2A):c.2705G>A (p.Cys902Tyr)	LOC122152296, USH2A (C902Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2881612	NM_206933.4(USH2A):c.2703G>A (p.Glu901=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356073	NM_206933.4(USH2A):c.2695A>T (p.Met899Leu)	LOC122152296, USH2A (M899L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107206	NM_206933.4(USH2A):c.2692C>T (p.Gln898Ter)	LOC122152296, USH2A (Q898*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2043331	NM_206933.4(USH2A):c.2691C>A (p.Cys897Ter)	LOC122152296, USH2A (C897*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1724052	NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)	LOC122152296, USH2A (Q895*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1401849	NM_206933.4(USH2A):c.2682del (p.Gln895fs)	LOC122152296, USH2A (Q895fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 848705	NM_206933.4(USH2A):c.2680T>G (p.Phe894Val)	LOC122152296, USH2A (F894V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158556	NM_206933.4(USH2A):c.2672T>C (p.Ile891Thr)	LOC122152296, USH2A (I891T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913180	NM_206933.4(USH2A):c.2670C>A (p.Thr890=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035651	NM_206933.4(USH2A):c.2670del (p.Ile891fs)	LOC122152296, USH2A (I891fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 1953029	NM_206933.4(USH2A):c.2669C>T (p.Thr890Ile)	LOC122152296, USH2A (T890I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400376	NM_206933.4(USH2A):c.2666T>A (p.Leu889Ter)	LOC122152296, USH2A (L889*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1639748	NM_206933.4(USH2A):c.2665T>C (p.Leu889=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2122951	NM_206933.4(USH2A):c.2664T>C (p.Asn888=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 236539	NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter)	LOC122152296, USH2A (Y887*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 1126796	NM_206933.4(USH2A):c.2658G>A (p.Arg886=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 550419	NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	LOC122152296, USH2A (H885Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GConflicting classifications of pathogenicity
Select item 866539	NM_206933.4(USH2A):c.2649dup (p.Pro884fs)	LOC122152296, USH2A (P884fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 1154205	NM_206933.4(USH2A):c.2649G>A (p.Glu883=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070807	NM_206933.4(USH2A):c.2649del (p.Glu883fs)	LOC122152296, USH2A (E883fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679490	NM_206933.4(USH2A):c.2647G>T (p.Glu883Ter)	LOC122152296, USH2A (E883*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 680395	NM_206933.4(USH2A):c.2643G>A (p.Gln881=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +2 more	GLikely benign
Select item 1209842	NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro)	LOC122152296, USH2A (Q881P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 1658952	NM_206933.4(USH2A):c.2640T>C (p.Asn880=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097074	NM_206933.4(USH2A):c.2638A>T (p.Asn880Tyr)	LOC122152296, USH2A (N880Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036290	NM_206933.4(USH2A):c.2637T>C (p.Cys879=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 166515	NM_206933.4(USH2A):c.2633G>A (p.Arg878His)	LOC122152296, USH2A (R878H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 2415573	NM_206933.4(USH2A):c.2632C>T (p.Arg878Cys)	LOC122152296, USH2A (R878C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1644587	NM_206933.4(USH2A):c.2631T>C (p.Leu877=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146820	NM_206933.4(USH2A):c.2628T>A (p.Gly876=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1403863	NM_206933.4(USH2A):c.2626G>C (p.Gly876Arg)	LOC122152296, USH2A (G876R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310175	NM_206933.4(USH2A):c.2621T>C (p.Val874Ala)	LOC122152296, USH2A (V874A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857792	NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)	USH2A, LOC122152296 (V874E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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