"Baylor Genetics"[submitter] AND "USH2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287641	NM_206933.4(USH2A):c.15520-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 48465	NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	USH2A (I5166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 1329072	NM_206933.4(USH2A):c.15465dup (p.Val5156fs)	USH2A (V5156fs)	Duplication (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3240687	NM_206933.4(USH2A):c.15457_15460dup (p.Lys5154fs)	USH2A (K5154fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 557069	NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)	USH2A (Q5138*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 655791	NM_206933.4(USH2A):c.15403del (p.Thr5135fs)	USH2A (T5135fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2679476	NM_206933.4(USH2A):c.15388_15389del (p.Asn5130fs)	USH2A (N5130fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 801608	NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)	USH2A (P5127L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 951601	NM_206933.4(USH2A):c.15371del (p.Leu5124fs)	USH2A (L5124fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 3240698	NM_206933.4(USH2A):c.15339_15342del (p.Ile5115fs)	USH2A (I5115fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1985719	NM_206933.4(USH2A):c.15338_15339del (p.Val5113fs)	USH2A (V5113fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679560	NM_206933.4(USH2A):c.15298-2A>C	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1467759	NM_206933.4(USH2A):c.15297+1G>T	USH2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 845053	NM_206933.4(USH2A):c.15297+1G>C	USH2A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2184515	NM_206933.4(USH2A):c.15266_15294del (p.Leu5089fs)	USH2A (L5089fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 143177	NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)	USH2A (P5078R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 552090	NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)	USH2A (S5060P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 554160	NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs)	USH2A (M5049fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GConflicting classifications of pathogenicity
Select item 2679553	NM_206933.4(USH2A):c.15126_15135del (p.Trp5042fs)	USH2A (W5042fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2194870	NM_206933.4(USH2A):c.15126del (p.Trp5042fs)	USH2A (W5042fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2679554	NM_206933.4(USH2A):c.15112_15115dup (p.Ser5039fs)	USH2A (S5039fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1457644	NM_206933.4(USH2A):c.15104_15105del (p.Thr5035fs)	USH2A (T5035fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 620106	NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)	USH2A (S5030*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +4 more	GPathogenic
Select item 813116	NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)	USH2A (T5022fs)	Indel (frameshift variant)	Usher syndrome type 2A +5 more	GPathogenic/Likely pathogenic
Select item 3240711	NM_206933.4(USH2A):c.15060_15066dup (p.Thr5023fs)	USH2A (T5023fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679503	NM_206933.4(USH2A):c.15053-5_15059del	USH2A	Deletion (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679507	NM_206933.4(USH2A):c.15053-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 554652	NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)	USH2A (T5013fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 553406	NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)	USH2A (T5006M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 2679449	NM_206933.4(USH2A):c.14969-49_15001delinsAA	USH2A	Indel (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 554446	NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)	USH2A (T4999A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 555201	NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)	USH2A (F4993fs)	Deletion (frameshift variant)	Retinitis pigmentosa +4 more	GPathogenic
Select item 2792462	NM_206933.4(USH2A):c.14970del (p.Phe4991fs)	USH2A (F4991fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2128739	NM_206933.4(USH2A):c.14968+1G>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 2679486	NM_206933.4(USH2A):c.14967_14968del (p.Lys4989fs)	USH2A (K4989fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 961823	NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)	USH2A (G4976S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GConflicting classifications of pathogenicity
Select item 48449	NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	USH2A (R4971*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 2679540	NM_206933.4(USH2A):c.14893_14900del (p.Val4965fs)	USH2A (V4965fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1687247	NM_206933.4(USH2A):c.14835del (p.Val4946fs)	USH2A (V4946fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic
Select item 1402084	NM_206933.4(USH2A):c.14831del (p.Leu4944fs)	USH2A (L4944fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 2679493	NM_206933.4(USH2A):c.14811del (p.Ser4939fs)	USH2A (S4939fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679524	NM_206933.4(USH2A):c.14804_14808del (p.Arg4935fs)	USH2A (R4935fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 177760	NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	USH2A (R4935*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +4 more	GPathogenic
Select item 2679469	NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter)	USH2A (Y4934*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679446	NM_206933.4(USH2A):c.14802C>G (p.Tyr4934Ter)	USH2A (Y4934*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 2679482	NM_206933.4(USH2A):c.14792-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 100610	NM_206933.4(USH2A):c.14792-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 943996	NM_206933.4(USH2A):c.14791+4A>G	USH2A	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240723	NM_206933.4(USH2A):c.14791+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 817032	NM_206933.4(USH2A):c.14787del (p.Glu4930fs)	USH2A (E4930fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3240688	NM_206933.4(USH2A):c.14774del (p.Phe4925fs)	USH2A (F4925fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 813115	NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)	USH2A (E4921*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +2 more	GPathogenic/Likely pathogenic
Select item 521389	NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)	USH2A (Q4900*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3240721	NM_206933.4(USH2A):c.14693dup (p.Leu4899fs)	USH2A (L4899fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GPathogenic
Select item 2679455	NM_206933.4(USH2A):c.14591_14594dup (p.Gln4865fs)	USH2A (Q4865fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679489	NM_206933.4(USH2A):c.14586T>G (p.Tyr4862Ter)	USH2A (Y4862*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 3028639	NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)	USH2A (G4857V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 1456512	NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)	USH2A (W4849*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 3240707	NM_206933.4(USH2A):c.14525C>A (p.Ser4842Ter)	USH2A (S4842*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 1457880	NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)	USH2A (S4830*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 2679565	NM_206933.4(USH2A):c.14454del (p.Thr4819fs)	USH2A (T4819fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 870918	NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)	USH2A	Deletion (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 504509	NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	USH2A (P4818L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GPathogenic/Likely pathogenic
Select item 438016	NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	USH2A (T4809I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 556553	NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)	USH2A (Y4801fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 553162	NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)	USH2A (L4795R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 812447	NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)	USH2A (E4784K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2679561	NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs)	USH2A (N4762fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 48433	NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	USH2A (G4763R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 1485310	NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys)	USH2A (N4762K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 1065734	NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)	USH2A (N4762S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679466	NM_206933.4(USH2A):c.14266_14274delinsTG (p.Ser4756fs)	USH2A (S4756fs)	Indel (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 179439	NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)	USH2A (Q4750*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic
Select item 143175	NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)	USH2A (S4748F)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
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 48429	NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)	USH2A (W4727*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 283856	NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)	USH2A (W4725*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 551489	NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)	USH2A (W4713fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 2679501	NM_206933.4(USH2A):c.14133+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 554236	NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)	USH2A (Q4711*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic
Select item 557599	NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)	USH2A (Y4673H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1683413	NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)	USH2A (E4671fs)	Deletion (frameshift variant)	Usher syndrome +1 more	GLikely pathogenic
Select item 2679508	NM_206933.4(USH2A):c.13856C>G (p.Ser4619Ter)	USH2A (S4619*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 143174	NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)	USH2A (G4616V)	Single nucleotide variant (missense variant)	Usher syndrome +3 more	GConflicting classifications of pathogenicity
Select item 557745	NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)	USH2A (R4608*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 556918	NM_206933.4(USH2A):c.13811+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1453149	NM_206933.4(USH2A):c.13732_13796dup (p.Lys4600_Pro4601insSerTyrThrTerLys)	USH2A	Duplication (nonsense +1 more)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 813343	NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)	USH2A (I4595fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3240693	NM_206933.4(USH2A):c.13776dup (p.Ser4593fs)	USH2A (S4593fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 1075686	NM_206933.4(USH2A):c.13742del (p.His4581fs)	USH2A (H4581fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240690	NM_206933.4(USH2A):c.13709del (p.Arg4570fs)	USH2A (R4570fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 555701	NM_206933.4(USH2A):c.13700del (p.Leu4567fs)	USH2A (L4567fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic
Select item 1032621	NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)	USH2A (I4562V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 555195	NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)	USH2A (Q4541*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 865801	NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)	USH2A (P4532fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 817690	NM_206933.4(USH2A):c.13587del (p.Ser4530fs)	USH2A (S4530fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 438014	NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A (R4526*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 2202939	NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)	USH2A (G4516W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2679483	NM_206933.4(USH2A):c.13543C>T (p.Gln4515Ter)	USH2A (Q4515*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2151913	NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr)	USH2A (A4511T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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