ClinVar for MedGen (Select 893599) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048166	NM_000350.3(ABCA4):c.[52C>T;5603A>T]	ABCA4 (R18W +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048163	NM_000350.3(ABCA4):c.[1610G>A;5603A>T]	ABCA4 (R537H +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048134	NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]	ABCA4 (N1868I +1 more)	Single nucleotide variant (intron variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048132	NM_000350.3(ABCA4):c.[2588G>C;5603A>T]	ABCA4 (G863A +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048131	NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 884100	NM_152443.3(RDH12):c.-123C>T	GPHN, RDH12	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 882447	NM_152443.3(RDH12):c.*305G>A	GPHN, RDH12 +1 more	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 882201	NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr)	GPHN, RDH12 +1 more (S252Y)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 805927	NM_152443.3(RDH12):c.194G>A (p.Arg65Gln)	GPHN, RDH12 (R65Q)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 712780	NM_152443.3(RDH12):c.138C>T (p.Gly46=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13 +1 more	GConflicting classifications of pathogenicity
Select item 369320	NC_000002.12:g.181536661C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369222	NM_014336.4(AIPL1):c.-107C>G	AIPL1	Single nucleotide variant	Retinitis Pigmentosa, Recessive +2 more	GLikely benign
Select item 369221	NM_014336.4(AIPL1):c.-106C>A	AIPL1	Single nucleotide variant	Leber congenital amaurosis +3 more	GBenign/Likely benign
Select item 369121	NM_001297.4(CNGB1):c.*1825T>A	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369120	NM_001297.4(CNGB1):c.*1826T>A	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369119	NM_001297.4(CNGB1):c.*1827T>A	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369118	NM_001297.4(CNGB1):c.*1828A>T	CNGB1	Single nucleotide variant	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 369117	NM_001297.4(CNGB1):c.*1837delA	CNGB1	Deletion	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 368834	NM_001193300.2(SEMA4A):c.-254-12C>T	SEMA4A	Single nucleotide variant (intron variant)	Cone-Rod Dystrophy, Recessive +2 more	GUncertain significance
Select item 364004	NM_177965.3(CFAP418):c.-22G>A	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant	Cone-Rod Dystrophy, Recessive +1 more	GUncertain significance
Select item 363992	NM_177965.4(CFAP418):c.1623_1624dup	CFAP418	Duplication (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +2 more	GUncertain significance
Select item 357740	NM_001142800.2(EYS):c.1460-5dup	EYS	Duplication (intron variant)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 357736	NM_001142800.2(EYS):c.2023+15del	EYS	Deletion (intron variant)	Retinitis Pigmentosa, Recessive +1 more	GBenign/Likely benign
Select item 357735	NM_001142800.2(EYS):c.2023+15dup	EYS	Duplication (intron variant)	Retinitis Pigmentosa, Recessive +1 more	GBenign
Select item 357734	NM_001142800.2(EYS):c.2024-14_2024-13insT	EYS	Insertion (intron variant)	Retinitis Pigmentosa, Recessive +2 more	GBenign/Likely benign
Select item 357714	NM_001142800.2(EYS):c.3905A>G (p.His1302Arg)	EYS (H1302R)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 357702	NM_001142800.2(EYS):c.5883T>G (p.Thr1961=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 357684	NM_001142800.2(EYS):c.*98A>G	EYS, PHF3	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 357683	NM_001142800.2(EYS):c.*412del	EYS, PHF3	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 356466	NM_003322.6(TULP1):c.1341G>A (p.Leu447=)	TULP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis +2 more	GConflicting classifications of pathogenicity
Select item 356463	NM_003322.6(TULP1):c.*273del	TULP1	Deletion (3 prime UTR variant)	Leber congenital amaurosis +1 more	GLikely benign
Select item 354988	NM_001242957.1(MAK):c.-278A>G	MAK	Single nucleotide variant	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 354987	NM_001242957.3(MAK):c.-254G>C	MAK	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 354986	NM_001242957.3(MAK):c.-239A>C	MAK	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 354985	NM_001242957.3(MAK):c.-236G>A	MAK	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354872	NM_001242957.3(MAK):c.119A>G (p.Tyr40Cys)	MAK (Y40C +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354804	NM_001242957.3(MAK):c.405T>G (p.Gly135=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 354803	NM_001242957.3(MAK):c.787G>A (p.Glu263Lys)	MAK (E263K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 354802	NM_001242957.3(MAK):c.807A>G (p.Pro269=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354801	NM_001242957.3(MAK):c.843C>T (p.His281=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 354800	NM_001242957.3(MAK):c.861T>G (p.Gly287=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354799	NM_001242957.3(MAK):c.867A>G (p.Val289=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 354798	NM_001242957.3(MAK):c.968C>G (p.Pro323Arg)	MAK (P323R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis Pigmentosa, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 354797	NM_001242957.3(MAK):c.1128C>T (p.Val376=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 354795	NM_001242957.3(MAK):c.1184G>T (p.Arg395Leu)	MAK (R395L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 354794	NM_001242957.3(MAK):c.1238A>G (p.Tyr413Cys)	MAK (Y413C +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354789	NM_001242957.3(MAK):c.1558C>T (p.Pro520Ser)	MAK (P520S +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis Pigmentosa, Recessive +2 more	GBenign/Likely benign
Select item 354788	NM_001242957.3(MAK):c.1762C>T (p.His588Tyr)	MAK (H588Y +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 354787	NM_001242957.3(MAK):c.1778A>G (p.Asn593Ser)	MAK (N593S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 354784	NM_001242957.3(MAK):c.1815T>C (p.Thr605=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 354783	NM_001242957.3(MAK):c.1905T>C (p.His635=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 354782	NM_001242957.3(MAK):c.*34C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 354781	NM_001242957.3(MAK):c.*226G>A	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354780	NM_001242957.3(MAK):c.*279A>C	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354779	NM_001242957.3(MAK):c.311_312dup	MAK	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354778	NM_001242957.3(MAK):c.331_332dup	MAK	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354777	NM_001242957.3(MAK):c.*601dup	MAK	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 354776	NM_001242957.3(MAK):c.*728C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354775	NM_001242957.3(MAK):c.*905del	MAK	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GBenign
Select item 354774	NM_001242957.3(MAK):c.*966C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354773	NM_001242957.3(MAK):c.*1347C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354772	NM_001242957.3(MAK):c.*1373C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GBenign
Select item 354771	NM_001242957.3(MAK):c.*1420AAT[2]	MAK	Microsatellite (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354770	NM_001242957.3(MAK):c.1436_1438del	MAK	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354769	NM_001242957.3(MAK):c.*1563G>A	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354768	NM_001242957.3(MAK):c.*1688C>A	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GBenign
Select item 352011	NM_000440.3(PDE6A):c.-114T>C	PDE6A	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351976	NM_000440.3(PDE6A):c.*241del	PDE6A	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 351975	NM_000440.3(PDE6A):c.*241dup	PDE6A	Duplication (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 351974	NM_000440.3(PDE6A):c.*257del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351969	NM_000440.3(PDE6A):c.*828dup	PDE6A	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351953	NM_000440.3(PDE6A):c.*2068del	PDE6A	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 351952	NM_000440.3(PDE6A):c.2077_2078dup	PDE6A	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 351951	NM_000440.3(PDE6A):c.*2079del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351950	NM_000440.3(PDE6A):c.2079_2080del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351949	NM_000440.3(PDE6A):c.*2098CT[2]	PDE6A	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351941	NM_000440.3(PDE6A):c.2637_2641del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 349404	NM_000283.4(PDE6B):c.*153dup	PDE6B	Duplication (3 prime UTR variant)	Congenital Stationary Night Blindness, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 349396	NM_000283.4(PDE6B):c.2411G>C (p.Arg804Thr)	PDE6B (R804T +2 more)	Single nucleotide variant (missense variant)	Congenital Stationary Night Blindness, Dominant +1 more	GUncertain significance
Select item 348837	NM_001379270.1(CNGA1):c.1606G>A (p.Asp536Asn)	CNGA1, LOC101927157 (D536N)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 348831	NM_001379270.1(CNGA1):c.*273dup	CNGA1, LOC101927157	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 348829	NM_001379270.1(CNGA1):c.372_373del	CNGA1, LOC101927157	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 348013	NM_006017.3(PROM1):c.-37C>T	PROM1	Single nucleotide variant (5 prime UTR variant)	Stargardt Disease, Dominant +3 more	GUncertain significance
Select item 348000	NM_006017.3(PROM1):c.785-11T>G	PROM1	Single nucleotide variant (intron variant)	Stargardt Disease, Dominant +3 more	GUncertain significance
Select item 347975	NM_006017.3(PROM1):c.2374-14dup	PROM1	Duplication (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347970	NM_006017.3(PROM1):c.*84del	PROM1	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant +3 more	GLikely benign
Select item 347888	NM_004744.5(LRAT):c.*3729del	LRAT	Deletion (3 prime UTR variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 347884	NM_004744.5(LRAT):c.*3459dup	LRAT	Duplication (3 prime UTR variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 347883	NM_004744.5(LRAT):c.*3435A>C	LRAT	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 347880	NM_004744.5(LRAT):c.2741_2743dup	LRAT	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 347876	NM_004744.5(LRAT):c.2477_2479del	LRAT	Deletion (3 prime UTR variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 347869	NM_004744.5(LRAT):c.2258_2259insTGTTGTGCTGAGTTT	LRAT	Insertion (3 prime UTR variant)	Retinal dystrophy +2 more	GLikely benign
Select item 347855	NM_004744.5(LRAT):c.*313del	LRAT	Deletion (3 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 347854	NM_004744.5(LRAT):c.298_301del	LRAT	Deletion (3 prime UTR variant)	Leber congenital amaurosis +2 more	GUncertain significance
Select item 346947	NM_001278293.3(ARL6):c.*284C>A	ARL6	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 346944	NM_001278293.3(ARL6):c.*225G>C	ARL6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 346936	NM_001278293.3(ARL6):c.-240C>T	ARL6	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GLikely benign
Select item 342358	NM_016247.4(IMPG2):c.335-16_335-15del	IMPG2	Deletion (intron variant)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 342356	NM_016247.4(IMPG2):c.534-13dup	IMPG2	Duplication (intron variant)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 342332	NM_016247.4(IMPG2):c.*45G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance

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