ClinVar (all) for Orgtrack (Select 507863) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Developmental cataract	GUncertain significance
Select item 1065590	NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del)	GJA8 (K131del)	Microsatellite (inframe_deletion)	Developmental cataract	GUncertain significance
Select item 1065589	NM_005267.5(GJA8):c.64G>A (p.Gly22Ser)	GJA8 (G22S)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
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)	MIR184-related condition	GUncertain significance
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 836202	NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	TERT (R888W +1 more)	Single nucleotide variant (missense variant +1 more)	TERT-related condition +5 more	GConflicting classifications of pathogenicity
Select item 252944	NM_021954.4(GJA3):c.56C>T (p.Thr19Met)	GJA3 (T19M)	Single nucleotide variant (missense variant)	Congenital cataracts-facial dysmorphism-neuropathy syndrome	GPathogenic
Select item 228678	NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	EYA1 (S487L +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 217339	NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)	GJA3 (P59L)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 68459	NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	CRYAA (R12C)	Single nucleotide variant (missense variant)	Abnormality of the eye +1 more	GPathogenic/Likely pathogenic
Select item 42334	NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)	FBN1 (P1141L)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 17421	NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)	COL4A1 (G720D)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GPathogenic/Likely pathogenic

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Items: 31