"Department of Clinical Genetics, Copenhagen University Hospital, Rigs - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 48449	NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	USH2A (R4971*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +4 more	GPathogenic/Likely pathogenic
Select item 429215	NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	USH2A (A4740D)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 636258	NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter)	USH2A (Q4650*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 438014	NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A (R4526*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 438013	NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	USH2A	Indel (inframe_indel)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 438012	NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)	USH2A (P4444L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 636116	NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys)	USH2A (T4425K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 636115	NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly)	USH2A (C4375G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	USH2A-related condition +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 636114	NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile)	USH2A (S4054I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome +11 more	GPathogenic
Select item 636113	NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)	USH2A (R3905H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 180084	NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)	USH2A (G3814*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic
Select item 143170	NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	USH2A (R3719H)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 636227	NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val)	USH2A (A3603V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 636210	NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)	USH2A (C3337F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 48634	NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	USH2A (C3267R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 636130	NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe)	USH2A (C3168F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 636129	NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly)	USH2A (R3124G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 636228	NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)	USH2A (P3116T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 636128	NM_206933.4(USH2A):c.9056-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 636127	NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	USH2A (G2752R)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 554116	NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)	USH2A (L2301S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 636126	NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)	USH2A (G2243V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 48547	NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	USH2A (Y1992C)	Single nucleotide variant (missense variant)	USH2A-related condition +4 more	GConflicting classifications of pathogenicity
Select item 636124	NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs)	USH2A, USH2A-AS2 (S1849fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 636123	NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter)	USH2A, USH2A-AS2 (E1825*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 48530	NM_206933.4(USH2A):c.5167+4A>G	USH2A-AS2, USH2A	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 636122	NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr)	USH2A, USH2A-AS2 (D1692Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 636121	NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala)	USH2A, USH2A-AS2 (V1670A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488733	NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	USH2A, USH2A-AS2 (R1653*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic
Select item 636120	NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)	USH2A, USH2A-AS1 (W1382C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 133312	NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)	USH2A, USH2A-AS1 (S1136N)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 636119	NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)	USH2A, USH2A-AS1 (C1002S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
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 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Rare genetic deafness +23 more	GConflicting classifications of pathogenicity
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 636209	NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)	USH2A (C676*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 48471	NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	USH2A (C536R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic
Select item 636117	NM_206933.4(USH2A):c.1391G>A (p.Arg464His)	USH2A (R464H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinal degeneration +7 more	GPathogenic
Select item 636259	NM_206933.4(USH2A):c.672C>A (p.Ser224Arg)	USH2A (S224R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636143	NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del	USH2A	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 636142	NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup	USH2A	Duplication	Usher syndrome	GLikely pathogenic
Select item 636141	NM_206933.2:c.(11711+1_11712-1)_(*1_?)del	USH2A	Deletion	Retinitis pigmentosa	GPathogenic

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Items: 49