C1848634[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 486

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179824	NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)	USH2A (R5194H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 553718	NM_206933.4(USH2A):c.15577del (p.Glu5193fs)	USH2A (E5193fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 553657	NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter)	USH2A (E5193*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GUncertain significance
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 551761	NM_206933.4(USH2A):c.15380del (p.Pro5127fs)	USH2A (P5127fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 557757	NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del)	USH2A (T5111del)	Deletion (inframe_deletion)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 555433	NM_206933.4(USH2A):c.15322del (p.Arg5108fs)	USH2A (R5108fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 229623	NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)	USH2A (R5108W)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 553864	NM_206933.4(USH2A):c.15298-18_15301dup	USH2A	Duplication (splice acceptor variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 166415	NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)	USH2A (P5094L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 556916	NM_206933.4(USH2A):c.15200del (p.Ile5067fs)	USH2A (I5067fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
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 48457	NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 555500	NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)	USH2A (S5039del)	Deletion (inframe_deletion)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 228206	NM_206933.4(USH2A):c.15105A>C (p.Thr5035=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 48455	NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)	USH2A (R5031W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 551913	NM_206933.4(USH2A):c.15052+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A +1 more	GLikely pathogenic
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 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 554051	NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del)	USH2A (F4993del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 550200	NM_206933.4(USH2A):c.14969-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +1 more	GLikely pathogenic
Select item 554779	NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)	USH2A (T4990fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 48450	NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 554540	NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)	USH2A (V4965fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552512	NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)	USH2A (R4972C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
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 229622	NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)	USH2A (D4968N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48446	NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
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 553701	NM_206933.4(USH2A):c.14791+2T>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 557320	NM_206933.4(USH2A):c.14679del (p.Ala4894fs)	USH2A (A4894fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 549961	NM_206933.4(USH2A):c.14582+1G>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +3 more	GLikely pathogenic
Select item 558160	NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)	USH2A (G4857A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 48440	NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)	USH2A (T4839M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 228205	NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 552628	NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)	USH2A (C4808*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 198366	NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	USH2A (A4807T)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
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 557525	NM_206933.4(USH2A):c.14344-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +1 more	GLikely 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 177913	NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)	USH2A (G4759E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
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 557050	NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg)	USH2A (P4735R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 48430	NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
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 551489	NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)	USH2A (W4713fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
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 166425	NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)	USH2A (L4703S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 48427	NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	USH2A (G4692R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 553123	NM_206933.4(USH2A):c.13985del (p.Gln4662fs)	USH2A (Q4662fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 551736	NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)	USH2A	Deletion (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
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 549942	NM_206933.4(USH2A):c.13812-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 556726	NM_206933.4(USH2A):c.13811+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A +1 more	GLikely 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 178937	NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	USH2A (H4603P)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 550628	NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)	USH2A (S4593L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 554572	NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)	USH2A (Q4592H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
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 554417	NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)	USH2A	Duplication (inframe_insertion)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 550633	NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)	USH2A (P4555L)	Single nucleotide variant (missense variant)	not specified +3 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 438014	NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A (R4526*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 554620	NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)	USH2A	Deletion (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 236535	NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)	USH2A (R4481G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48417	NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	USH2A (P4466S)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166428	NM_206933.4(USH2A):c.13374del (p.Glu4458fs)	USH2A (E4458fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic
Select item 554155	NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	USH2A (M4447V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 557721	NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)	USH2A (N4446fs)	Indel (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 198344	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A (T4439I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 371787	NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)	USH2A (F4419fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic/Likely pathogenic
Select item 69116	NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)	USH2A (S4420F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 556334	NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	USH2A (L4406P)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 558124	NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)	USH2A (G4403fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 558487	NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs)	USH2A (V4391fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 48412	NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	USH2A (S4377*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 438010	NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)	USH2A (W4376G)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 558585	NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	USH2A (Q4371fs)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 556059	NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)	USH2A (W4365*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 143172	NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	USH2A (T4337M)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 179774	NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)	USH2A (G4293S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 48408	NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	USH2A (Q4290*)	Single nucleotide variant (nonsense)	Rare genetic deafness +4 more	GPathogenic
Select item 557680	NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)	USH2A (P4287fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 438008	NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)	USH2A (Y4273*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 555131	NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)	USH2A (P4269R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 550300	NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)	USH2A (E4264K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 552713	NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)	USH2A (A4246G)	Indel (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 554725	NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)	USH2A (W4233fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 48404	NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)	USH2A (F4223L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 556604	NM_206933.4(USH2A):c.12602del (p.Gly4201fs)	USH2A (G4201fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GLikely pathogenic
Select item 557093	NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)	USH2A (C4194R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GConflicting classifications of pathogenicity
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +7 more	GConflicting classifications of pathogenicity
Select item 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 166435	NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	USH2A (T4169A)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 48398	NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)	USH2A (R4121H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance

<< First< Prev

Page of 5