C0854723[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 374182	NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)	ABCA4 (M2151I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 99460	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4 (R2149* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99413	NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	ABCA4 (P1948L +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +8 more	GConflicting classifications of pathogenicity
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GConflicting classifications of pathogenicity
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +7 more	GPathogenic/Likely pathogenic
Select item 99373	NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	ABCA4 (N1805D +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +3 more	GConflicting classifications of pathogenicity
Select item 236128	NM_000350.3(ABCA4):c.5312+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic
Select item 99351	NM_000350.3(ABCA4):c.5196+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Age related macular degeneration 2 +3 more	GPathogenic
Select item 374183	NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)	ABCA4 (T1726fs)	Duplication (frameshift variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 99329	NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)	ABCA4, LOC126805793 (A1637T +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 99283	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4 (P1486L +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +5 more	GPathogenic/Likely pathogenic
Select item 99224	NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	ABCA4 (R1129L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 92867	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4 (R1108C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 236100	NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	ABCA4 (R1098C +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +3 more	GPathogenic/Likely pathogenic
Select item 99211	NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	ABCA4 (E1087K +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +6 more	GPathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99114	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4 (R681*)	Single nucleotide variant (nonsense)	Age related macular degeneration 2 +3 more	GPathogenic/Likely pathogenic
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	ABCA4-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 99347	NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	ABCA4 (G172S)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +4 more	GConflicting classifications of pathogenicity
Select item 99113	NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	ABCA4 (P68L)	Single nucleotide variant (missense variant)	ABCA4-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 92871	NM_000350.3(ABCA4):c.67-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis +7 more	GPathogenic
Select item 851764	NM_201253.3(CRB1):c.4006-10A>G	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +3 more	GConflicting classifications of pathogenicity
Select item 48442	NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	USH2A (L4840P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GUncertain significance
Select item 48433	NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	USH2A (G4763R)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GConflicting classifications of pathogenicity
Select item 438013	NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	USH2A	Indel (inframe_indel)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 236536	NM_206933.4(USH2A):c.11549-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +2 more	GPathogenic
Select item 48586	NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)	USH2A (N2560S)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 517494	NM_206933.4(USH2A):c.7524del (p.Arg2509fs)	USH2A (R2509fs)	Deletion (frameshift variant)	Usher syndrome type 2A +5 more	GPathogenic
Select item 48546	NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	USH2A (A1953G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 48481	NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	USH2A (D656N)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 2358	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2 +10 more	GPathogenic
Select item 438048	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE (W1001*)	Single nucleotide variant (nonsense)	See cases +5 more	GPathogenic/Likely pathogenic
Select item 497256	NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	CNGA3 (R427C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic
Select item 9478	NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)	CNGA3 (F547L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 812227	NM_152384.3(BBS5):c.619-1G>C	BBS5	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2364	NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	CERKL (R257* +2 more)	Single nucleotide variant (nonsense +2 more)	Cone dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 13014	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO (P347L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +7 more	GPathogenic/Likely pathogenic
Select item 636062	NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)	PDE6B (E129K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 438188	NM_000283.4(PDE6B):c.1107+3A>G	PDE6B	Single nucleotide variant (intron variant)	Retinitis pigmentosa 40 +2 more	GConflicting classifications of pathogenicity
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 437999	NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu)	CTNNA1 (S322L +2 more)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 98671	NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	PRPH2 (D157N)	Single nucleotide variant (missense variant)	Abnormality of retinal pigmentation +8 more	GPathogenic/Likely pathogenic
Select item 523415	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	EYS, PHF3 (E2840G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary retinopathy +11 more	GUncertain significance
Select item 195936	NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	EYS (I1451fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +9 more	GPathogenic
Select item 2193	NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	RP1L1 (R45W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GConflicting classifications of pathogenicity
Select item 208816	NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	HGSNAT (A615T +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +6 more	GConflicting classifications of pathogenicity
Select item 426622	NM_006269.2(RP1):c.5375C>G (p.Ala1792Gly)	LOC126860392, RP1 (A1792G)	Single nucleotide variant (missense variant)	Retinal pigment epithelial atrophy +3 more	GUncertain significance
Select item 932080	NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)	RP1 (S2118N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	Achromatopsia 3 +5 more	GPathogenic/Likely pathogenic
Select item 374027	NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	CNGB3	Deletion (frameshift variant)	Achromatopsia +5 more	GPathogenic
Select item 374163	NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)	VPS13B (S1516fs +1 more)	Deletion (frameshift variant)	Progressive visual loss +9 more	GPathogenic
Select item 56635	NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)	VPS13B (Q3772* +1 more)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 866269	NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)	INPP5E (R467C +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 301224	NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	CDHR1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 194793	NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	CDHR1 (I841fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 12998	NM_000327.4(ROM1):c.339dup (p.Leu114fs)	ROM1 (L114fs)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 845479	NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)	BBS1 (R160W)	Single nucleotide variant (missense variant)	BBS1-related disorder +3 more	GUncertain significance
Select item 43135	NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)	MYO7A (R378C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +5 more	GConflicting classifications of pathogenicity
Select item 17383	NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	COL2A1 (R496C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Retinal dystrophy +6 more	GPathogenic
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +10 more	GPathogenic/Likely pathogenic
Select item 56739	NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	CEP290 (A1832fs)	Deletion (frameshift variant)	CEP290-related disorder +14 more	GPathogenic
Select item 1339	NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	CEP290 (K1575*)	Single nucleotide variant (nonsense)	Blindness +13 more	GPathogenic
Select item 217628	NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)	CEP290 (K1484fs)	Microsatellite (frameshift variant)	CEP290-related disorder +7 more	GPathogenic
Select item 1337	NM_025114.4(CEP290):c.2991+1655A>G	CEP290	Single nucleotide variant (intron variant)	Leber congenital amaurosis 10 +12 more	GPathogenic/Likely pathogenic
Select item 279751	NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	CEP290 (Q646*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +9 more	GPathogenic
Select item 236506	NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)	RPGRIP1 (K435* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6	GPathogenic
Select item 523527	NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)	RPGRIP1 (V857fs +1 more)	Duplication (frameshift variant +1 more)	Color vision defect +3 more	GLikely pathogenic
Select item 204593	NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	KIAA0586 (R131fs +3 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +6 more	GPathogenic/Likely pathogenic
Select item 655601	NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	ZFYVE26, GPHN +1 more (R295*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 406177	NM_015346.4(ZFYVE26):c.7231C>T (p.Arg2411Cys)	ZFYVE26 (R2411C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2530	NM_144596.4(TTC8):c.489G>A (p.Thr163=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Truncal obesity +7 more	GConflicting classifications of pathogenicity
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +11 more	GPathogenic/Likely pathogenic
Select item 5530	NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	NR2E3 (R76Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 9355	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	GUCY2D (R838C)	Single nucleotide variant (missense variant)	Choroidal dystrophy, central areolar, 1 +4 more	GPathogenic/Likely pathogenic
Select item 428573	NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	CFAP410 (R73P +1 more)	Single nucleotide variant (missense variant)	CFAP410-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 373962	NM_001379500.1(COL18A1):c.929-2A>G	COL18A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 373961	NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter)	COL18A1, SLC19A1 (R1327* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 65410	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 214018	NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	ACO2 (G240A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 9888	NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	CDKL5, RS1 (E72K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 438142	NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	RPGR (E746fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +7 more	GPathogenic/Likely pathogenic
Select item 860467	NM_006915.3(RP2):c.409_411del (p.Ile137del)	RP2 (I137del)	Deletion (inframe_deletion)	Retinitis pigmentosa 2 +2 more	GPathogenic/Likely pathogenic
Select item 446163	NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)	PRPS1 (R214W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic

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Items: 93