ClinVar for MedGen (Select 18180) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250409	NM_006005.3:c.[1673G>A];[1549C>T]			Wolfram syndrome 1	GPathogenic
Select item 3250186	NM_018418.5(SPATA7):c.1301A>G (p.Asp434Gly)	SPATA7 (D402G +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250185	NM_001034853.2(RPGR):c.1114G>T (p.Ala372Ser)	RPGR (A371S +2 more)	Single nucleotide variant (missense variant +2 more)	Optic atrophy	GUncertain significance
Select item 3250184	NM_032317.3(DNAJC30):c.172dup (p.Ser58fs)	DNAJC30, LOC129998603 (S58fs)	Duplication (frameshift variant)	Optic atrophy	GLikely pathogenic
Select item 3250183	NM_130837.3(OPA1):c.2983+4A>G	OPA1	Single nucleotide variant (intron variant)	Optic atrophy	GUncertain significance
Select item 3250182	NM_130837.3(OPA1):c.1808_1810del (p.Val603_Ser604delinsAla)	LOC126806913, OPA1	Deletion (inframe_indel)	Optic atrophy	GUncertain significance
Select item 3250181	NM_130837.3(OPA1):c.2039G>A (p.Trp680Ter)	OPA1 (W501* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy	GPathogenic
Select item 3250180	NM_130837.3(OPA1):c.2779-2A>C	OPA1	Single nucleotide variant (splice acceptor variant)	Optic atrophy	GPathogenic
Select item 3250179	NM_130837.3(OPA1):c.2672del (p.Thr891fs)	OPA1 (T818fs +9 more)	Deletion (frameshift variant)	Optic atrophy	GPathogenic
Select item 3250178	NM_130837.3(OPA1):c.983A>C (p.Asp328Ala)	OPA1 (D149A +9 more)	Single nucleotide variant (missense variant)	Optic atrophy	GLikely pathogenic
Select item 3250177	NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)	OPA1 (D314G +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +1 more	GLikely pathogenic
Select item 3250176	NM_130837.3(OPA1):c.2441-3dup	OPA1	Duplication (intron variant)	Optic atrophy	GUncertain significance
Select item 3250175	NC_000003.12:g.(?_193593498)_(193618878_193626118)del	OPA1, OPA1-AS1	Deletion	Optic atrophy	GPathogenic
Select item 3250174	NM_130837.3:c.(2778+1_2779-1)_(2983+1_2984-1)del	OPA1	Deletion	Optic atrophy	GPathogenic
Select item 3250173	NM_130837.3(OPA1):c.1036-9del	OPA1	Deletion (intron variant)	Optic atrophy	GUncertain significance
Select item 3250172	NM_130837.3(OPA1):c.1541G>A (p.Gly514Glu)	OPA1 (G335E +9 more)	Single nucleotide variant (missense variant)	Optic atrophy	GLikely pathogenic
Select item 3250170	NM_130837.3(OPA1):c.1305+5G>C	OPA1	Single nucleotide variant (intron variant)	Optic atrophy	GUncertain significance
Select item 3250169	NM_130837.3(OPA1):c.1681+1G>A	OPA1	Single nucleotide variant (splice donor variant)	Optic atrophy	GPathogenic
Select item 3250168	NM_130837.3(OPA1):c.1477G>C (p.Asp493His)	OPA1 (D314H +9 more)	Single nucleotide variant (missense variant)	Optic atrophy	GLikely pathogenic
Select item 3250167	NM_130837.3(OPA1):c.1013del (p.Asn338fs)	OPA1 (N159fs +9 more)	Deletion (frameshift variant)	Optic atrophy	GPathogenic
Select item 3250166	NM_130837.3(OPA1):c.295_301dup (p.Arg101fs)	OPA1 (R101fs)	Duplication (5 prime UTR variant +1 more)	Optic atrophy	GPathogenic
Select item 3250165	NM_006005.3(WFS1):c.1042G>C (p.Val348Leu)	WFS1 (V348L)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250164	NM_025114.4(CEP290):c.3880C>A (p.Gln1294Lys)	CEP290 (Q1294K)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250163	NM_020843.4(SCAPER):c.2544T>G (p.Ile848Met)	SCAPER (I602M +4 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250162	NM_001166114.2(PNPLA6):c.2281C>T (p.Pro761Ser)	PNPLA6 (P696S +3 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250159	NM_024417.5(FDXR):c.1351C>T (p.Arg451Trp)	FDXR (R399W +6 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250158	NM_001378615.1(CC2D2A):c.123+5G>C	CC2D2A	Single nucleotide variant (intron variant)	Optic atrophy	GUncertain significance
Select item 3250157	NM_005869.4(CWC27):c.155C>A (p.Thr52Asn)	CWC27 (T52N)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250155	NM_201253.3(CRB1):c.4084G>T (p.Ala1362Ser)	CRB1 (A1250S +3 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250154	NM_022367.4(SEMA4A):c.981G>T (p.Gln327His)	SEMA4A (Q158H +3 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250153	NM_021728.4(OTX2):c.6G>A (p.Met2Ile)	OTX2 (M2I)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250152	NM_005468.3(NAALADL1):c.1509-1G>A	NAALADL1	Single nucleotide variant (splice acceptor variant)	Optic atrophy	GLikely pathogenic
Select item 3250150	NM_022124.6(CDH23):c.7762G>A (p.Glu2588Lys)	CDH23 (E2588K +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250149	NM_130837.3(OPA1):c.2012+4_2012+7del	OPA1	Deletion (splice donor variant)	Optic atrophy	GLikely pathogenic
Select item 3250148	NM_001386393.1(PANK2):c.535A>G (p.Thr179Ala)	PANK2 (T179A +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Optic atrophy	GUncertain significance
Select item 3250147	NM_153676.4(USH1C):c.2314G>A (p.Val772Met)	USH1C (V453M +2 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250146	NM_001034853.2(RPGR):c.2715A>G (p.Glu905=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250145	NM_015072.5(TTLL5):c.889A>G (p.Ser297Gly)	TTLL5 (S297G)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250144	NM_005559.4(LAMA1):c.1004A>G (p.Asp335Gly)	LAMA1 (D335G)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250143	NM_001256789.3(CACNA1F):c.4100+2T>C	CACNA1F	Single nucleotide variant (splice donor variant)	Optic atrophy	GUncertain significance
Select item 3250142	NM_001098.3(ACO2):c.-8T>C	ACO2	Single nucleotide variant (5 prime UTR variant)	Optic atrophy	GUncertain significance
Select item 3250141	NM_024741.3(ZNF408):c.2157del (p.Thr720fs)	ZNF408 (T712fs +1 more)	Deletion (frameshift variant)	Optic atrophy	GUncertain significance
Select item 3250140	NM_006005.3(WFS1):c.682C>T (p.Arg228Cys)	WFS1 (R228C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250139	NM_014425.5(INVS):c.2085T>A (p.His695Gln)	INVS (H369Q +2 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250138	NM_020843.4(SCAPER):c.1378_1380del (p.Asn460del)	SCAPER (N214del +4 more)	Deletion (inframe_deletion +1 more)	Optic atrophy	GUncertain significance
Select item 3250137	NM_007186.6(CEP250):c.1126T>C (p.Phe376Leu)	CEP250, CEP250-AS1 (F376L)	Single nucleotide variant (non-coding transcript variant +2 more)	Optic atrophy	GUncertain significance
Select item 3250136	NM_014855.3(AP5Z1):c.2287G>T (p.Val763Leu)	AP5Z1 (V607L +1 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250135	NM_020843.4(SCAPER):c.3443C>T (p.Thr1148Ile)	SCAPER (T1014I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250134	NM_001378454.1(ALMS1):c.3761C>G (p.Pro1254Arg)	ALMS1 (P1254R +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250133	NM_015910.7(WDPCP):c.208+3A>G	WDPCP	Single nucleotide variant (intron variant)	WDPCP-related disorder +1 more	GUncertain significance
Select item 3250132	NM_003835.4(RGS9):c.1726G>T (p.Ala576Ser)	RGS9 (A573S +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250131	NM_025132.4(WDR19):c.1169C>A (p.Pro390His)	WDR19 (P230H +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250130	NM_032119.4(ADGRV1):c.11185C>A (p.Pro3729Thr)	ADGRV1 (P3729T)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250129	NM_144631.6(ZNF513):c.340G>C (p.Glu114Gln)	ZNF513 (E114Q +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250128	NM_005559.4(LAMA1):c.*11G>A	LAMA1	Single nucleotide variant (3 prime UTR variant)	Optic atrophy	GUncertain significance
Select item 3250127	NM_014444.5(TUBGCP4):c.377T>A (p.Leu126Gln)	TUBGCP4 (L126Q)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250126	NM_001122769.3(LCA5):c.1316G>A (p.Gly439Glu)	LCA5 (G439E)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250125	NM_020366.4(RPGRIP1):c.391G>A (p.Val131Ile)	RPGRIP1 (V131I)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250124	NM_001377.3(DYNC2H1):c.10642A>G (p.Ile3548Val)	DYNC2H1 (I3548V +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250122	NM_020843.4(SCAPER):c.2419C>T (p.Leu807Phe)	SCAPER (L561F +4 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250121	NM_006343.3(MERTK):c.85G>T (p.Ala29Ser)	MERTK (A29S)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250120	NM_004798.4(KIF3B):c.-122GCC[13]	KIF3B	Microsatellite (5 prime UTR variant)	Optic atrophy	GLikely benign
Select item 3250118	NM_031475.3(ESPN):c.1314_1325del (p.Pro441_Pro444del)	ESPN	Deletion (inframe_deletion)	Optic atrophy	GUncertain significance
Select item 3250117	NM_024741.3(ZNF408):c.1461G>A (p.Met487Ile)	ZNF408 (M479I +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250116	NM_025132.4(WDR19):c.2405T>A (p.Ile802Lys)	WDR19 (I642K +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250115	NM_000370.3(TTPA):c.819T>G (p.Ile273Met)	TTPA (I120M +3 more)	Single nucleotide variant (missense variant +2 more)	Optic atrophy	GUncertain significance
Select item 3250114	NM_005468.3(NAALADL1):c.1087G>A (p.Val363Met)	NAALADL1 (V363M)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250113	NM_022367.4(SEMA4A):c.1811C>G (p.Thr604Ser)	SEMA4A (T435S +3 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250112	NM_012193.4(FZD4):c.869C>T (p.Pro290Leu)	FZD4, PRSS23 (P290L)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250111	NM_025114.4(CEP290):c.4596C>G (p.His1532Gln)	CEP290 (H1532Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +4 more	GUncertain significance
Select item 3250110	NM_017777.4(MKS1):c.1531A>C (p.Ser511Arg)	MKS1 (E483A +2 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250109	NM_000180.4(GUCY2D):c.2413-7C>A	GUCY2D	Single nucleotide variant (intron variant)	Optic atrophy	GUncertain significance
Select item 3250107	NM_006005.3(WFS1):c.861_861+8del	WFS1	Deletion (splice donor variant)	Optic atrophy	GPathogenic
Select item 3250106	NM_005468.3(NAALADL1):c.1198+7C>T	NAALADL1	Single nucleotide variant (intron variant)	Optic atrophy	GUncertain significance
Select item 3250105	NM_001164665.2(KIAA1549):c.509G>A (p.Arg170Gln)	KIAA1549 (R170Q)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250104	NM_031475.3(ESPN):c.1633G>T (p.Ala545Ser)	ESPN (A545S)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250103	NM_130837.3(OPA1):c.1035+4_1035+5inv	OPA1	Inversion (intron variant)	Optic atrophy	GLikely pathogenic
Select item 3250102	NM_006899.5(IDH3B):c.-11C>T	IDH3B	Single nucleotide variant (5 prime UTR variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250101	NM_130837.3(OPA1):c.1589dup (p.Asn530fs)	OPA1 (N351fs +9 more)	Duplication (frameshift variant)	Optic atrophy	GPathogenic
Select item 3250100	NM_001346022.3(USP45):c.1082C>T (p.Thr361Met)	USP45 (T360M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3250099	NM_001098.3(ACO2):c.1360C>T (p.Gln454Ter)	ACO2 (Q454*)	Single nucleotide variant (nonsense)	Optic atrophy	GPathogenic
Select item 3250098	NM_003143.3(SSBP1):c.13C>T (p.Pro5Ser)	SSBP1 (P5S)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250097	NM_005802.5(TOPORS):c.1208A>G (p.Glu403Gly)	TOPORS (E338G +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250096	NM_000327.4(ROM1):c.835C>T (p.Gln279Ter)	ROM1 (Q279*)	Single nucleotide variant (nonsense)	Optic atrophy	GUncertain significance
Select item 3250095	NM_022124.6(CDH23):c.3448T>C (p.Phe1150Leu)	C10orf105, CDH23 (F1150L)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250094	NM_130837.3(OPA1):c.1383del (p.Thr462fs)	OPA1 (T283fs +9 more)	Deletion (frameshift variant)	Optic atrophy	GPathogenic
Select item 3250093	NM_015102.5(NPHP4):c.2389G>C (p.Val797Leu)	NPHP4 (V284L +2 more)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250092	NM_001004334.4(GPR179):c.362C>T (p.Ser121Phe)	GPR179 (S121F)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250091	NM_004727.3(SLC24A1):c.2643GGA[3] (p.Glu888_Glu890del)	SLC24A1	Microsatellite (inframe_deletion)	Optic atrophy	GUncertain significance
Select item 3250090	NM_001034853.2(RPGR):c.2667G>A (p.Glu889=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Optic atrophy	GBenign
Select item 3250089	NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe)	WFS1 (L754F)	Single nucleotide variant (missense variant)	Cataract 41 +5 more	GUncertain significance
Select item 3250087	NM_014264.5(PLK4):c.1358+1G>T	PLK4	Single nucleotide variant (splice donor variant)	Optic atrophy	GUncertain significance
Select item 3250086	NM_130837.3(OPA1):c.1149+1_1149+5del	OPA1	Deletion (splice donor variant)	Autosomal dominant optic atrophy classic form +1 more	GPathogenic/Likely pathogenic
Select item 3250085	NM_130837.3(OPA1):c.794C>A (p.Ser265Ter)	OPA1 (S210* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy	GPathogenic
Select item 3250084	NM_130837.3(OPA1):c.2796_2798del (p.Val933del)	OPA1 (V754del +9 more)	Deletion (inframe_deletion)	Optic atrophy	GUncertain significance
Select item 3250083	NM_130837.3(OPA1):c.1989_1992del (p.Ser664fs)	OPA1 (S485fs +9 more)	Deletion (frameshift variant)	Optic atrophy	GPathogenic
Select item 3250082	NM_130837.3(OPA1):c.2983+2T>C	OPA1	Single nucleotide variant (splice donor variant)	Optic atrophy	GPathogenic
Select item 3250081	NM_130837.3(OPA1):c.1756A>G (p.Thr586Ala)	LOC126806913, OPA1 (T407A +9 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 3250080	NM_015909.4(NBAS):c.809G>A (p.Gly270Asp)	NBAS (G270D)	Single nucleotide variant (missense variant +1 more)	Optic atrophy	GUncertain significance
Select item 3250079	NM_153240.5(NPHP3):c.519+2T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (splice donor variant)	Optic atrophy	GPathogenic

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