"GeneDx"[submitter] AND "LOC122152296"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	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 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 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
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 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 48491	NM_206933.4(USH2A):c.2777G>A (p.Arg926His)	LOC122152296, USH2A (R926H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GUncertain significance
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 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 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 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 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 1310175	NM_206933.4(USH2A):c.2621T>C (p.Val874Ala)	LOC122152296, USH2A (V874A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 48488	NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	USH2A, LOC122152296 (C849Y)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
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 166517	NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)	LOC122152296, USH2A (R837Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 286632	NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)	LOC122152296, USH2A (N820S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 949618	NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)	LOC122152296, USH2A	Microsatellite (nonsense)	Usher syndrome type 2A +2 more	GPathogenic
Select item 424470	NM_206933.4(USH2A):c.2384G>A (p.Cys795Tyr)	LOC122152296, USH2A (C795Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3369659	NM_206933.4(USH2A):c.2372A>T (p.Asn791Ile)	LOC122152296, USH2A (N791I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751828	NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)	LOC122152296, USH2A (V789I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1691763	NM_206933.4(USH2A):c.2309A>G (p.Lys770Arg)	LOC122152296, USH2A (K770R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 24