ClinVar for MedGen (Select 3202) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710339	NM_001289808.2(CRYAB):c.466del (p.Glu156fs)	CRYAB (E156fs +1 more)	Deletion (frameshift variant)	Developmental cataract	GPathogenic
Select item 1330155	NM_012414.4(RAB3GAP2):c.1153C>T (p.Arg385Cys)	RAB3GAP2 (R385C)	Single nucleotide variant (missense variant)	Developmental cataract +4 more	GUncertain significance
Select item 1308690	NC_000023.11:g.128710337_128710338del	OCRL	Deletion	Developmental cataract	GPathogenic
Select item 1065601	NM_002340.6(LSS):c.232C>G (p.Leu78Val)	LSS (L78V)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 1065600	NM_018060.4(IARS2):c.1166G>C (p.Gly389Ala)	IARS2 (G389A)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1065599	NM_004793.4(LONP1):c.2245C>T (p.Pro749Ser)	LONP1 (P553S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 1065598	NM_006005.3(WFS1):c.1109C>T (p.Ala370Val)	WFS1 (A370V)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1065597	NM_000786.4(CYP51A1):c.280G>A (p.Ala94Thr)	CYP51A1 (A94T)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 1065596	NM_012064.4(MIP):c.338G>A (p.Arg113Gln)	MIP (R113Q)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1065595	NM_003571.4(BFSP2):c.265C>T (p.Arg89Trp)	BFSP2 (R89W)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1065594	NM_001887.4(CRYBB1):c.281T>A (p.Ile94Asn)	CRYBA4, CRYBB1 (I94N)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 1065593	NM_181882.3(PRX):c.381+5G>A	PRX (R129H)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 1065592	NM_181336.4(LEMD2):c.1A>G (p.Met1Val)	LEMD2, LOC129996186 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental cataract	GUncertain significance
Select item 1065591	NM_021954.4(GJA3):c.43C>A (p.Gln15Lys)	GJA3 (Q15K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 1065590	NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del)	GJA8 (K131del)	Microsatellite (inframe_deletion)	Cataract 1 multiple types	GUncertain significance
Select item 1065589	NM_005267.5(GJA8):c.64G>A (p.Gly22Ser)	GJA8 (G22S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GLikely pathogenic
Select item 1065588	NM_005267.5(GJA8):c.565C>T (p.Pro189Ser)	GJA8 (P189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065587	NM_001195.5(BFSP1):c.1124del (p.Glu375fs)	BFSP1 (E236fs +3 more)	Deletion (frameshift variant)	Developmental cataract	GLikely pathogenic
Select item 1065586	NM_005029.4(PITX3):c.908G>T (p.Ter303Leu)	LOC130004590, PITX3	Single nucleotide variant (stop lost)	Developmental cataract	GLikely pathogenic
Select item 1065585	NM_001374675.1(HSF4):c.190A>G (p.Lys64Glu)	HSF4 (K64E)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 1065584	NR_029705.1(MIR184):n.52T>C	ANKRD34C-AS1, MIR184	Single nucleotide variant (non-coding transcript variant)	Developmental cataract +1 more	GUncertain significance
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Cryptorchidism +17 more	GPathogenic
Select item 988891	NM_207015.3(NAALADL2):c.1534-11_1534-10delinsA	NAALADL2	Indel (intron variant)	Developmental cataract	GLikely benign
Select item 988890	NM_019891.4(ERO1B):c.662C>T (p.Ala221Val)	ERO1B (A221V)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 988889	NC_000001.11:g.239953380_239953381insGTGTGTGAGGCAGAGCCGGTGTGTGAGGAGGCCTGGGGGTGGGTTCATGTGAGCCCGTGGGGAGGGGACAGGGCTGGACTGCACAGAGCAGAGCTGCCAGAAGCTGAGGAGCGGACGCAGCAATGAGAAACTCAGCCCAATCATGTGGCCGACTGCAGTCTGGAAGACTTCCTGGGTGTGGAGTTTCTCTGAGTTTCTCAGAAAGGCAGAGGGAAGATTTTTGTCAGTAGAAGGCACATGGAAAGTCAGTCATGTTAGTGATCTTTCCTCCTCTGGCAGCTCCAGAGCCAGCTCCAGTTCAAGCTCAAAAGCCACCTTCAGAGTGTGTGTCAGGGCTAGGTCCACCACCAGCTCCAGCTGCAGCCTTAACCACCAG		Insertion	Developmental cataract	GLikely benign
Select item 988888	NC_000003.12:g.176518923_176519268dup		Duplication	Developmental cataract	GLikely benign
Select item 988887	NC_000023.10:g.118373226_118500408del	PGRMC1	Deletion	Developmental cataract	GPathogenic
Select item 883924	NM_012064.4(MIP):c.490G>A (p.Val164Ile)	MIP (V164I)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GLikely benign
Select item 834061	NM_012064.4(MIP):c.513del (p.His172fs)	MIP (H172fs)	Deletion (frameshift variant)	Microcornea +3 more	GUncertain significance
Select item 804353	NM_002491.3(NDUFB3):c.136G>A (p.Gly46Ser)	NDUFB3 (G46S)	Single nucleotide variant (missense variant)	Developmental cataract +3 more	GUncertain significance
Select item 637953	NM_007374.3(SIX6):c.-227_572+235del	C14orf39, SIX6	Deletion (splice donor variant +1 more)	Microphthalmia +3 more	GPathogenic
Select item 637058	NM_007374.3(SIX6):c.547G>C (p.Asp183His)	C14orf39, SIX6 (D183H)	Single nucleotide variant (missense variant)	Nystagmus +3 more	GPathogenic
Select item 599398	NM_002804.5(PSMC3):c.1127+337A>G	PSMC3	Single nucleotide variant (intron variant)	Deafness, cataract, impaired intellectual development, and polyneuropathy +3 more	GPathogenic
Select item 430901	NM_001368894.2(PAX6):c.131G>C (p.Arg44Pro)	PAX6 (R44P +2 more)	Single nucleotide variant (missense variant +3 more)	Microphthalmia +1 more	GPathogenic
Select item 424743	NM_001195.4(BFSP1):c.[1492delT];[812T>C]			Developmental cataract	GLikely pathogenic
Select item 375228	NM_003846.2(PEX11B):c.(?_-1)_(374+1_375-1)del	PEX11B	Deletion	Developmental cataract	GLikely pathogenic
Select item 375220	NM_001123385.1(BCOR):c.(3502+1_3503-1)_(4173+1_4174-1)del	BCOR	Deletion	Developmental cataract	GLikely pathogenic
Select item 374075	NM_005360.5(MAF):c.188C>G (p.Pro63Arg)	MAF (P63R)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 369847	hg19chr22:g.26995597_27074524dup	CRYBA4, CRYBB1 +1 more	Duplication	Developmental cataract	GLikely pathogenic
Select item 364052	NM_014290.2(TDRD7):c.-153dup	LOC124310607, TDRD7	Duplication	Developmental cataract	GUncertain significance
Select item 359087	NM_018238.4(AGK):c.1331_1334del	AGK	Deletion (3 prime UTR variant)	Sengers syndrome +1 more	GUncertain significance
Select item 359085	NM_018238.4(AGK):c.1308_1311del	AGK	Deletion (3 prime UTR variant)	Sengers syndrome +1 more	GUncertain significance
Select item 359082	NM_018238.4(AGK):c.1233_1236del	AGK	Deletion (3 prime UTR variant)	Sengers syndrome +1 more	GUncertain significance
Select item 359074	NM_018238.4(AGK):c.463_466dup	AGK	Duplication (3 prime UTR variant)	Sengers syndrome +1 more	GLikely benign
Select item 359072	NM_018238.4(AGK):c.*354CTT[1]	AGK	Microsatellite (3 prime UTR variant)	Sengers syndrome +1 more	GUncertain significance
Select item 359070	NM_018238.4(AGK):c.*319del	AGK	Deletion (3 prime UTR variant)	Developmental cataract +1 more	GUncertain significance
Select item 359067	NM_018238.4(AGK):c.82_83del	AGK	Deletion (3 prime UTR variant)	Sengers syndrome +1 more	GUncertain significance
Select item 359054	NM_018238.3(AGK):c.-75G>C	AGK	Single nucleotide variant	Sengers syndrome +1 more	GUncertain significance
Select item 359053	NM_018238.3(AGK):c.-88G>C	AGK	Single nucleotide variant	Sengers syndrome +1 more	GUncertain significance
Select item 359052	NM_018238.3(AGK):c.-100G>A	AGK	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359051	NM_018238.3(AGK):c.-139G>A	AGK, AGK-DT	Single nucleotide variant (non-coding transcript variant)	Sengers syndrome +1 more	GUncertain significance
Select item 359050	NM_018238.3(AGK):c.-162G>A	AGK, AGK-DT +1 more	Single nucleotide variant (non-coding transcript variant)	Sengers syndrome +1 more	GUncertain significance
Select item 345531	NM_024513.4(FYCO1):c.1015C>G (p.Arg339Gly)	FYCO1 (R339G)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 345467	NM_024513.4(FYCO1):c.*1499del	FYCO1	Deletion (3 prime UTR variant)	Developmental cataract	GUncertain significance
Select item 345466	NM_024513.4(FYCO1):c.*1655A>G	FYCO1	Single nucleotide variant (3 prime UTR variant)	Developmental cataract	GUncertain significance
Select item 345464	NM_024513.4(FYCO1):c.*1806ATC[1]	FYCO1	Microsatellite (3 prime UTR variant +2 more)	Developmental cataract	GUncertain significance
Select item 345456	NM_024513.4(FYCO1):c.*2694del	FYCO1	Deletion (3 prime UTR variant)	Developmental cataract	GUncertain significance
Select item 345455	NM_024513.4(FYCO1):c.2693_2694dup	FYCO1	Duplication (3 prime UTR variant)	Developmental cataract	GBenign
Select item 345453	NM_024513.4(FYCO1):c.2695_2696insTT	FYCO1	Insertion (3 prime UTR variant)	Developmental cataract +1 more	GUncertain significance
Select item 345452	NM_024513.4(FYCO1):c.2695_2696insT	FYCO1	Insertion (3 prime UTR variant)	Developmental cataract	GUncertain significance
Select item 345443	NM_024513.4(FYCO1):c.*3257del	FYCO1	Deletion (3 prime UTR variant)	Developmental cataract	GBenign
Select item 340100	NM_000394.4(CRYAA):c.369C>T (p.Asn123=)	CRYAA	Single nucleotide variant (synonymous variant)	Developmental cataract	GUncertain significance
Select item 268044	46;XX;ins(2;9)(q24.3;p22.1p24.3)dn		Translocation	Delayed speech and language development +19 more	GPathogenic
Select item 267822	46;XY;t(1;3)(q32.1;q13.2)dn		Translocation	Developmental cataract +3 more	GUncertain significance
Select item 261727	NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu)	FYCO1 (N1001E)	Indel (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252957	NM_024513.4(FYCO1):c.1538G>A (p.Arg513Gln)	FYCO1 (R513Q)	Single nucleotide variant (missense variant)	Developmental cataract	GBenign
Select item 252956	NM_012064.4(MIP):c.631G>T (p.Gly211Ter)	MIP (G211*)	Single nucleotide variant (nonsense)	Developmental cataract	GPathogenic
Select item 252955	NM_145649.5(GCNT2):c.1169_1172del (p.Asn390fs)	GCNT2 (N388fs +1 more)	Deletion (frameshift variant)	Developmental cataract	GLikely pathogenic
Select item 252954	NM_145649.5(GCNT2):c.1091T>C (p.Phe364Ser)	GCNT2 (F364S +1 more)	Single nucleotide variant (missense variant)	Developmental cataract	GPathogenic
Select item 252953	NM_003571.4(BFSP2):c.1136C>A (p.Ala379Glu)	BFSP2, BFSP2-AS1 (A379E)	Single nucleotide variant (missense variant)	Developmental cataract	GBenign
Select item 252952	NM_000496.3(CRYBB2):c.563G>T (p.Arg188Leu)	CRYBB2 (R188L)	Single nucleotide variant (missense variant)	Developmental cataract	GPathogenic
Select item 252951	NM_015480.3(NECTIN3):c.886A>C (p.Asn296His)	NECTIN3 (N273H +1 more)	Single nucleotide variant (missense variant)	NECTIN3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 252950	NM_014617.4(CRYGA):c.239G>A (p.Arg80His)	CRYGA (R80H)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely benign
Select item 252949	NM_017541.4(CRYGS):c.30_31delinsAA (p.Phe10_Tyr11delinsLeuAsn)	CRYGS	Indel (missense variant)	Developmental cataract	GPathogenic
Select item 252948	NM_000394.4(CRYAA):c.440del (p.Gln147fs)	CRYAA (Q147fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 252947	NM_005267.5(GJA8):c.484G>A (p.Glu162Lys)	GJA8 (E162K)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 252946	NM_005267.5(GJA8):c.73T>C (p.Trp25Arg)	GJA8 (W25R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 252945	NM_021954.4(GJA3):c.466A>C (p.Lys156Gln)	GJA3 (K156Q)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 252944	NM_021954.4(GJA3):c.56C>T (p.Thr19Met)	GJA3 (T19M)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 228678	NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	EYA1 (S487L +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +5 more	GConflicting classifications of pathogenicity
Select item 217355	NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)	GJA8 (D51N)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 217354	NM_001123385.2(BCOR):c.1136_1139del (p.Val379fs)	BCOR, LOC126863239 (V379fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 217353	NM_006891.4(CRYGD):c.448dup (p.Asp150fs)	CRYGD, LOC100507443 (D150fs)	Duplication (frameshift variant)	Developmental cataract	GPathogenic
Select item 217352	NM_001291867.2(NHS):c.3687C>A (p.Cys1229Ter)	NHS (C1208* +3 more)	Single nucleotide variant (nonsense)	Developmental cataract	GPathogenic
Select item 217351	NM_004076.5(CRYBB3):c.634T>C (p.Ter212Arg)	CRYBB3	Single nucleotide variant (stop lost)	Developmental cataract	GLikely pathogenic
Select item 217350	NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly)	CRYBB2 (W195G)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217349	NM_004431.5(EPHA2):c.1978T>G (p.Phe660Val)	EPHA2 (F660V +1 more)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 217348	NM_000496.2(CRYBB2):c.[343C>A;355G>A]	CRYBB2 (G119R +1 more)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217347	NM_001886.3(CRYBA4):c.40-1G>C	CRYBA4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GBenign/Likely benign
Select item 217346	NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)	CRYAB (R107L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GConflicting classifications of pathogenicity
Select item 217345	NM_012064.4(MIP):c.597_598insGGGAACATTCCACT (p.Asn200fs)	MIP (N200fs)	Insertion (frameshift variant)	Developmental cataract	GPathogenic
Select item 217344	NM_005360.5(MAF):c.880C>T (p.Arg294Trp)	MAF (R294W)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217343	NM_021954.4(GJA3):c.7G>C (p.Asp3His)	GJA3 (D3H)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GConflicting classifications of pathogenicity
Select item 217342	NM_012064.4(MIP):c.97C>T (p.Arg33Cys)	MIP (R33C)	Single nucleotide variant (missense variant)	Cataract 15 multiple types +1 more	GPathogenic
Select item 217341	NM_005360.5(MAF):c.915C>T (p.Cys305=)	MAF	Single nucleotide variant (synonymous variant)	Developmental cataract	GLikely pathogenic
Select item 217340	NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)	PXDN (A1064T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 217339	NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)	GJA3 (P59L)	Single nucleotide variant (missense variant)	Developmental cataract +1 more	GPathogenic/Likely pathogenic
Select item 217338	NM_003380.5(VIM):c.15del (p.Val6fs)	VIM-AS1, VIM (V6fs)	Deletion (non-coding transcript variant +1 more)	Cataract 30 +1 more	GPathogenic/Likely pathogenic
Select item 217337	NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs)	CRYGC, LOC100507443 (P110fs)	Indel (frameshift variant)	Developmental cataract	GPathogenic
Select item 217336	NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)	SLC16A12 (R204W)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance

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