Variants in gene USH2A with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 65

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	rs149553844	0.00089
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)	rs143696882	0.00066
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	rs142095945	0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	rs745693690	0.00009
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)	rs151057466	0.00007
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.12295-3T>A	rs111033518	0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	rs111033419	0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	rs121912599	0.00006
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)	rs201238640	0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)	rs758614136	0.00004
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	rs397517984	0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)	rs746837034	0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)	rs781668118	0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)	rs727504654	0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	rs749228276	0.00003
NM_206933.4(USH2A):c.5857+2T>C	rs397518022	0.00002
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)	rs770756678	0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)	rs111033395	0.00001
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)	rs140202956	0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)	rs921800139	0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)	rs774759345	0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)	rs199851839	0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	rs770553471	0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)	rs527236122	0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	rs137954284	0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)	rs1064793287	0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)	rs139311927	0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	rs397518026	0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)	rs748983904	0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)	rs200382994	0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	rs267598373	0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00001
NM_206933.4(USH2A):c.1039G>C (p.Asp347His)	rs772317024
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)	rs111033439
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)	rs910086490
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)	rs908265742
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe)	rs397517985
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	rs139474806
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)	rs767209934
NM_206933.4(USH2A):c.15465dup (p.Val5156fs)	rs769582796
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)	rs886043096
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)	rs368798834
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)	rs1171264735
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)	rs483353055
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)	rs397518013
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)	rs1294733964
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg)	rs768461447
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile)	rs2034687815
NM_206933.4(USH2A):c.486-1G>C	rs876657730
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	rs727505116
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)	rs398124620
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)	rs762869685
NM_206933.4(USH2A):c.8546G>T (p.Gly2849Val)	rs1064794034
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238

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