C0035334[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297123	NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser)	SAMD11 (P108S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 959730	NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu)	SAMD11 (K366E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1297092	NM_015102.5(NPHP4):c.2598_2607dup (p.Arg870fs)	NPHP4 (R357fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 1297093	NM_015102.5(NPHP4):c.770_777del (p.Glu257fs)	NPHP4 (E257fs)	Deletion (5 prime UTR variant +3 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	Developmental delay and seizures with or without movement abnormalities +3 more	GPathogenic
Select item 1297155	NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala)	DHDDS (T113A +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59 +1 more	GLikely pathogenic
Select item 188857	NM_000310.4(PPT1):c.541G>A (p.Val181Met)	PPT1 (V181M +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 8900	NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)	PPT1 (T75P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic
Select item 1297101	NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del)	POMGNT1, TSPAN1 (Y198del +2 more)	Microsatellite (inframe_deletion)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 92860	NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)	RPE65 (N321K)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 1297111	NM_000329.3(RPE65):c.922_924del (p.Pro308del)	RPE65 (P308del)	Deletion (inframe_deletion)	Retinitis pigmentosa	GUncertain significance
Select item 437985	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65 (P25L)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 377408	NM_000350.3(ABCA4):c.5898+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +7 more	GPathogenic/Likely pathogenic
Select item 99367	NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	ABCA4 (W1772* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 99352	NM_000350.3(ABCA4):c.5196+3_5196+6del	ABCA4	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048159	NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	ABCA4, LOC126805793 (P1660S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 99294	NM_000350.3(ABCA4):c.4539+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 99174	NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	ABCA4 (T972N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +6 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)	ABCA4-related disorder +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +8 more	GPathogenic/Likely pathogenic
Select item 99035	NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	ABCA4 (R408*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 99217	NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	ABCA4 (L11P)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +7 more	GPathogenic/Likely pathogenic
Select item 1018817	NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp)	PRPF3 (E353D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1297154	NM_201253.3(CRB1):c.222C>G (p.Cys74Trp)	CRB1 (C5W +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +6 more	GPathogenic
Select item 866829	NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	CRB1 (G477R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 1297153	NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)	CRB1 (G503D +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GConflicting classifications of pathogenicity
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 5732	NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	CRB1 (R764C +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 99888	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1 (C896* +2 more)	Single nucleotide variant (nonsense +2 more)	Macular dystrophy +6 more	GPathogenic
Select item 1297162	NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro)	FLVCR1 (L269P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1297161	NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=)	FLVCR1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 1297131	NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)	USH2A (L5063P)	Single nucleotide variant (missense variant)	not provided +3 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 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 554155	NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	USH2A (M4447V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	not specified +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 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome type 3A +10 more	GPathogenic
Select item 1297137	NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu)	USH2A (G3895E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 1297142	NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)	USH2A (G3546*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866222	NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)	USH2A (E3496del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1297140	NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)	USH2A (C3399*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 197932	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A (C3358Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +6 more	GPathogenic/Likely pathogenic
Select item 226441	NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	USH2A (C3307W)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 438036	NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	USH2A (C3294W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 553424	NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	USH2A (P3272L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GPathogenic/Likely pathogenic
Select item 73556	NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	USH2A (L3145F)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Usher syndrome +7 more	GPathogenic/Likely pathogenic
Select item 1297141	NM_206933.4(USH2A):c.9391dup (p.Val3131fs)	USH2A (V3131fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551824	NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)	USH2A	Deletion (inframe_deletion)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 558565	NM_206933.4(USH2A):c.8846-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 197510	NM_206933.4(USH2A):c.8682-9A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 1297132	NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys)	USH2A (G2799C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 96667	NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)	USH2A (S2639P)	Single nucleotide variant (missense variant)	Usher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1297134	NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)	USH2A (L2471H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 560523	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	USH2A (P2241L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 939338	NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)	USH2A (A2055T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Usher syndrome +6 more	GPathogenic
Select item 1297135	NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs)	USH2A, USH2A-AS2 (A1872fs)	Insertion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 166504	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A (R1504fs)	Duplication	Usher syndrome	GPathogenic FDA Recognized database
Select item 48511	NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	USH2A, USH2A-AS1 (S1369L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +6 more	GConflicting classifications of pathogenicity
Select item 438020	NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)	USH2A, USH2A-AS1 (N1343H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1297138	NM_206933.4(USH2A):c.2810-1G>A	USH2A, USH2A-AS1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Rare genetic deafness +22 more	GConflicting classifications of pathogenicity
Select item 812458	NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	USH2A (C766R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GPathogenic/Likely pathogenic
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 285412	NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)	USH2A (C605R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1297136	NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)	USH2A (C536S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 48347	NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	USH2A (N346H)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinal dystrophy +7 more	GPathogenic
Select item 48564	NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	USH2A (V218E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +6 more	GConflicting classifications of pathogenicity
Select item 1056829	NM_021831.6(AGBL5):c.842G>A (p.Arg281His)	AGBL5 (R281H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1297097	NM_021831.6(AGBL5):c.971C>T (p.Pro324Leu)	AGBL5 (P324L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 97022	NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)	IFT172, KRTCAP3 (C1727R +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 20 +3 more	GPathogenic
Select item 835613	NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)	IFT172, LOC126806173 (V1296M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 1297164	NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del)	IFT172	Deletion (inframe_deletion)	Retinitis pigmentosa	GUncertain significance
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 1297095	NM_001029883.3(PCARE):c.1763dup (p.Pro588_Glu589insTer)	PCARE	Duplication (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 866068	NM_001029883.3(PCARE):c.958del (p.Arg320fs)	PCARE (R320fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1049580	NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)	PCARE (L307*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 36	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A (R437*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 1297102	NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs)	ALMS1 (F278fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 210129	NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)	ALMS1 (R2146* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 1297106	NM_001378454.1(ALMS1):c.10771del (p.Thr3591fs)	ALMS1 (T3591fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 1297098	NM_001378454.1(ALMS1):c.11646_11649dup (p.Asn3884fs)	ALMS1 (N3884fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 636112	NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	SNRNP200 (R681C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33 +3 more	GPathogenic/Likely pathogenic
Select item 1297124	NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp)	SNRNP200 (E568D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 1297152	NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe)	CNNM4 (C244F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 808793	NM_006343.3(MERTK):c.1296+1G>A	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 5402	NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)	MERTK (R651*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 437995	NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	MERTK (R722*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38 +3 more	GPathogenic/Likely pathogenic
Select item 236453	NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)	MERTK (A768T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 91394	NM_201548.5(CERKL):c.780del (p.Pro261fs)	CERKL (P261fs +2 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic

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