ClinVar for MedGen (Select 208903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384111	NM_000350.3(ABCA4):c.607_611del (p.Ile203fs)	ABCA4 (I203fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3384108	NM_000350.3(ABCA4):c.749del (p.Phe250fs)	ABCA4 (F250fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3384098	NM_000350.3(ABCA4):c.2657del (p.Cys886fs)	ABCA4 (C812fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381822	NM_015629.4(PRPF31):c.322+5G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381821	NM_006017.3(PROM1):c.1649C>G (p.Ser550Ter)	PROM1 (S541* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3381820	NM_006017.3(PROM1):c.1406_1407insT (p.Thr470fs)	PROM1 (T461fs +1 more)	Insertion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381819	NM_017739.4(POMGNT1):c.359T>C (p.Leu120Pro)	POMGNT1, TSPAN1 (L120P +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3381818	NM_172240.3(POC1B):c.611C>T (p.Ala204Val)	POC1B (A162V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3381817	NM_001166114.2(PNPLA6):c.3488G>T (p.Ser1163Ile)	PNPLA6 (S1098I +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381816	NM_006204.4(PDE6C):c.633G>A (p.Glu211=)	PDE6C	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GPathogenic
Select item 3381815	NM_006204.4(PDE6C):c.2361_2363dup (p.Tyr788Ter)	PDE6C (Y788*)	Duplication (nonsense)	Retinal dystrophy	GPathogenic
Select item 3381814	NM_000283.4(PDE6B):c.2170A>C (p.Lys724Gln)	PDE6B (K339Q +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381813	NM_000283.4(PDE6B):c.1921-20_1921-3del	PDE6B	Deletion (intron variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381812	NM_001378477.3(NYX):c.22+5G>T	NYX	Single nucleotide variant (intron variant)	Retinal dystrophy	GPathogenic
Select item 3381811	NM_000266.4(NDP):c.384C>G (p.Cys128Trp)	NDP, NDP-AS1 (C128W)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3381810	NM_000260.4(MYO7A):c.1938del (p.Phe647fs)	MYO7A (F636fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3381809	NM_000260.4(MYO7A):c.5566_5577del (p.Arg1856_Gln1859del)	MYO7A	Deletion (inframe_deletion)	Retinal dystrophy	GLikely pathogenic
Select item 3381808	NM_006343.3(MERTK):c.444dup (p.Pro149fs)	MERTK (P149fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3381807	NM_006343.3(MERTK):c.601_609del (p.Lys201_Pro203del)	MERTK	Deletion (inframe_deletion)	Retinal dystrophy	GLikely pathogenic
Select item 3381806	NM_006343.3(MERTK):c.1787-2A>G	MERTK	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381805	NM_006343.3(MERTK):c.1237del (p.Gln413fs)	MERTK (Q413fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3381804	NM_006343.3(MERTK):c.985A>G (p.Asn329Asp)	LOC112806037, MERTK (N329D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3381803	NM_002335.4(LRP5):c.629A>G (p.Tyr210Cys)	LRP5 (Y210C)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3381802	NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)	LRIT3 (Y90*)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3381801	NM_001122769.3(LCA5):c.1261C>T (p.Gln421Ter)	LCA5 (Q421*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3381800	NM_133497.4(KCNV2):c.190G>T (p.Glu64Ter)	KCNV2 (E64*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3381799	NM_016247.4(IMPG2):c.3490G>T (p.Glu1164Ter)	IMPG2 (E1164*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3381798	NM_000180.4(GUCY2D):c.71del (p.Pro24fs)	GUCY2D (P24fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381797	NM_000180.4(GUCY2D):c.2T>C (p.Met1Thr)	GUCY2D (M1T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3381796	NM_000180.4(GUCY2D):c.1573del (p.Gln525fs)	GUCY2D (Q525fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381795	NM_000843.4(GRM6):c.1501-1G>T	GRM6, ZNF454	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3381794	NM_144499.3(GNAT1):c.1053A>G (p.Ter351Trp)	GNAT1	Single nucleotide variant (stop lost)	Retinal dystrophy	GLikely pathogenic
Select item 3381793	NM_001201543.2(FAM161A):c.1440del (p.Glu481fs)	FAM161A (E481fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3381792	NM_001142800.2(EYS):c.8050A>C (p.Thr2684Pro)	EYS (T2684P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381791	NM_003322.6(TULP1):c.822G>C (p.Lys274Asn)	TULP1 (K221N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381790	NM_001142800.2(EYS):c.5918dup (p.Leu1974fs)	EYS (L1974fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3381789	NM_000350.3(ABCA4):c.4924_4927del (p.Ser1642fs)	ABCA4, LOC126805793 (S1568fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381788	NM_201253.3(CRB1):c.266del (p.Pro89fs)	CRB1 (P20fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3381787	NM_201253.3(CRB1):c.255T>A (p.Cys85Ter)	CRB1 (C16* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3381786	NM_020184.4(CNNM4):c.2147A>G (p.Tyr716Cys)	CNNM4 (Y716C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381785	NM_000350.3(ABCA4):c.3965del (p.Pro1322fs)	ABCA4 (P1248fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3381784	NM_001297.5(CNGB1):c.2804_2817del (p.Glu935fs)	CNGB1 (E929fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3381783	NM_006493.4(CLN5):c.288del (p.Leu97fs)	CLN5 (L97fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3381782	NM_201548.5(CERKL):c.196C>T (p.Arg66Ter)	CERKL, LOC129935214 (R66*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3381781	NM_177965.4(CFAP418):c.374+1G>A	CFAP418	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381780	NM_001278293.3(ARL6):c.387_394del (p.Asn130fs)	ARL6 (N130fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3381779	NM_014336.5(AIPL1):c.735_737dup (p.Tyr246Ter)	AIPL1 (Y183* +7 more)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3381778	NM_003322.6(TULP1):c.1495+5G>A	TULP1	Single nucleotide variant (intron variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381777	NM_003322.6(TULP1):c.1561C>T (p.Pro521Ser)	TULP1 (P468S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381776	NM_003322.6(TULP1):c.1138A>G (p.Thr380Ala)	TULP1 (T327A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381775	NM_018418.5(SPATA7):c.1028G>A (p.Arg343Lys)	SPATA7 (R311K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381774	NM_003043.6(SLC6A6):c.746C>T (p.Thr249Ile)	SLC6A6 (T249I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3381773	NM_006642.5(SDCCAG8):c.1817_1818dup (p.Ala607Ter)	SDCCAG8 (A306* +3 more)	Duplication (nonsense)	Retinal dystrophy	GPathogenic
Select item 3381772	NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)	RPE65 (L249I +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381771	NM_000329.3(RPE65):c.550G>T (p.Glu184Ter)	RPE65 (E148* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3381770	NM_021831.6(AGBL5):c.577C>T (p.Arg193Trp)	AGBL5 (R193W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3381769	NM_006269.2(RP1):c.711C>G (p.Tyr237Ter)	RP1 (Y237*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3381768	NM_006269.2:c.-12-1431_*285del	RP1	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 3381767	NM_152443.3(RDH12):c.433G>A (p.Gly145Arg)	GPHN, RDH12 (G145R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381766	NM_032119.4(ADGRV1):c.10910del (p.Asn3637fs)	ADGRV1 (N3637fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3341500	NM_001163692.2(UBAP1L):c.910-7G>A	UBAP1L	Single nucleotide variant (intron variant)	Retinal dystrophy	GPathogenic
Select item 3341499	NM_001163692.2(UBAP1L):c.710del (p.Pro237fs)	UBAP1L (P237fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3341498	NM_001163692.2(UBAP1L):c.634_644del (p.Ser212fs)	UBAP1L (S212fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3341497	NM_001163692.2(UBAP1L):c.121-2A>C	UBAP1L	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3252069	NM_003430.4(ZNF91):c.1638C>G (p.Tyr546Ter)	ZNF91 (Y514* +1 more)	Single nucleotide variant (nonsense)	Cataract +4 more	GUncertain significance
Select item 3250352	NM_002900.3(RBP3):c.1366T>A (p.Leu456Met)	RBP3 (L456M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250351	NC_000021.9:g.(?_44330197)_(44330920_44331842)del	CFAP410	Deletion	Retinal dystrophy	GPathogenic
Select item 3250350	NM_014014.5(SNRNP200):c.5869G>A (p.Asp1957Asn)	SNRNP200 (D1957N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250349	NM_000283.4(PDE6B):c.1807G>A (p.Gly603Ser)	PDE6B (G218S +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250348	NM_031885.5(BBS2):c.242G>T (p.Gly81Val)	BBS2 (G81V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3250347	NM_206933.4:c.(6325+1_6326-1)_(7120+1_7121-1)del	USH2A	Deletion	Retinal dystrophy	GPathogenic
Select item 3250346	NM_001034853.2(RPGR):c.1765G>T (p.Glu589Ter)	RPGR (E527* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GPathogenic
Select item 3250345	NM_025114.4(CEP290):c.982C>T (p.Gln328Ter)	CEP290 (Q328*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3250344	NM_024649.5(BBS1):c.1501C>T (p.Leu501Phe)	BBS1, ZDHHC24 (L501F)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3250343	NM_206933.4(USH2A):c.1513A>T (p.Arg505Ter)	USH2A (R505*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3250342	NM_001142800.2:c.(6191+1_6192-1)_(6424+1_6425-1)dup	EYS	Duplication	Retinal dystrophy	GPathogenic
Select item 3250341	NM_006269.2(RP1):c.2281A>T (p.Lys761Ter)	RP1 (K761*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GPathogenic
Select item 3250340	NM_001242957.3:c.(831+1_832-1)_(1143+1_1144-1)del	MAK	Deletion	Retinal dystrophy	GPathogenic
Select item 3250339	NM_006915.3(RP2):c.891del (p.Ile298fs)	RP2 (I298fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3250338	NM_000431.4(MVK):c.508G>A (p.Asp170Asn)	MVK (D170N)	Single nucleotide variant (missense variant +3 more)	Retinal dystrophy	GUncertain significance
Select item 3250337	NC_000006.12:g.(65402477_65384501)_(65495411_?)del	EYS	Deletion	Retinal dystrophy	GPathogenic
Select item 3250336	NM_022367.4(SEMA4A):c.157C>A (p.Leu53Ile)	SEMA4A (L53I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3250335	NM_001349884.2(DRAM2):c.231A>T (p.Gln77His)	DRAM2 (Q77H)	Single nucleotide variant (missense variant +3 more)	Retinal dystrophy	GLikely pathogenic
Select item 3250334	NM_022124.6(CDH23):c.3616C>A (p.Pro1206Thr)	C10orf105, CDH23 (P1206T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3250333	NC_000002.12:g.(?_110123891)_(110204968_?)del	LOC126806306, NPHP1	Deletion	Retinal dystrophy	GPathogenic
Select item 3250332	NM_004698.4(PRPF3):c.667C>T (p.Leu223Phe)	PRPF3 (L223F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3250331	NM_206933.4:c.(8681+1_8682-1)_(8845+1_8846-1)del	USH2A	Deletion	Retinal dystrophy	GPathogenic
Select item 3250330	NM_000350.3(ABCA4):c.4683del (p.Ile1562fs)	ABCA4, LOC126805793 (I1562fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3250329	NM_000350.3(ABCA4):c.1553A>C (p.Glu518Ala)	ABCA4 (E518A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3250328	NM_001034853.2(RPGR):c.2971G>T (p.Glu991Ter)	RPGR (E991*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GPathogenic
Select item 3250327	NM_018418.5(SPATA7):c.590_593dup (p.Tyr199fs)	SPATA7 (Y167fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3250326	NM_019098.5(CNGB3):c.758G>A (p.Trp253Ter)	CNGB3 (W253*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3250325	NM_000539.3(RHO):c.485T>A (p.Val162Asp)	RHO (V162D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3250324	NM_015629.4(PRPF31):c.156_160del (p.Lys53fs)	PRPF31 (K53fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3250323	NC_000004.12:g.(?_13369875)_(13381595_13460698)del	RAB28	Deletion	Retinal dystrophy	GPathogenic
Select item 3250322	NM_007348.4(ATF6):c.1006G>A (p.Ala336Thr)	ATF6 (A336T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250321	NM_001023570.4(IQCB1):c.323T>C (p.Leu108Pro)	IQCB1 (L108P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3250320	NM_001319074.4(RAX2):c.515A>G (p.Glu172Gly)	RAX2 (E172G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250319	NM_206933.4(USH2A):c.11863T>C (p.Trp3955Arg)	USH2A (W3955R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3250318	NM_001042432.2:c.(460+1_461-1)_(677+1_678-1)del	CLN3	Deletion	Retinal dystrophy	GPathogenic

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