MIP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 309861	NM_012064.4(MIP):c.*1777dup	MIP	Duplication (3 prime UTR variant)	Cataract	GUncertain significance
Select item 880560	NM_012064.4(MIP):c.*1495T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309862	NM_012064.4(MIP):c.*1373A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 880561	NM_012064.4(MIP):c.*1262C>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309864	NM_012064.4(MIP):c.1237_1238dup	MIP	Duplication (3 prime UTR variant)	Cataract	GUncertain significance
Select item 309863	NM_012064.4(MIP):c.*1238dup	MIP	Duplication (3 prime UTR variant)	Cataract	GBenign
Select item 309865	NM_012064.4(MIP):c.*1201ATT[2]	MIP	Microsatellite (3 prime UTR variant)	Cataract	GLikely benign
Select item 309866	NM_012064.4(MIP):c.*1171C>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 880562	NM_012064.4(MIP):c.*1104T>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309867	NM_012064.4(MIP):c.*1103C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 880563	NM_012064.4(MIP):c.*969G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 880564	NM_012064.4(MIP):c.*957G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 881982	NM_012064.4(MIP):c.*955G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309868	NM_012064.4(MIP):c.*799A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 881983	NM_012064.4(MIP):c.*793C>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309869	NM_012064.4(MIP):c.*774G>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GLikely benign
Select item 309870	NM_012064.4(MIP):c.762_763del	MIP	Deletion (3 prime UTR variant)	Cataract	GBenign
Select item 309871	NM_012064.4(MIP):c.*715G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309872	NM_012064.4(MIP):c.*674G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 881984	NM_012064.4(MIP):c.*661C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309873	NM_012064.4(MIP):c.*615A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309874	NM_012064.4(MIP):c.*601G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 883145	NM_012064.4(MIP):c.*542C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309875	NM_012064.4(MIP):c.*505T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309876	NM_012064.4(MIP):c.*491A>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309877	NM_012064.4(MIP):c.*407A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309878	NM_012064.4(MIP):c.*342C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309879	NM_012064.4(MIP):c.*284T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types +1 more	GLikely benign
Select item 309881	NM_012064.4(MIP):c.*148dup	MIP	Duplication (3 prime UTR variant)	Cataract +1 more	GConflicting classifications of pathogenicity
Select item 1208453	NM_012064.4(MIP):c.147_148del	MIP	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 309880	NM_012064.4(MIP):c.*148del	MIP	Deletion (3 prime UTR variant)	Cataract +1 more	GBenign
Select item 883921	NM_012064.4(MIP):c.*136T>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309882	NM_012064.4(MIP):c.*132del	MIP	Deletion (3 prime UTR variant)	Cataract	GUncertain significance
Select item 309883	NM_012064.4(MIP):c.*94T>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types +1 more	GBenign
Select item 883922	NM_012064.4(MIP):c.*49G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GLikely benign
Select item 883923	NM_012064.4(MIP):c.*32T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 2578684	NM_012064.4(MIP):c.750G>T (p.Glu250Asp)	MIP (E250D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196738	NM_012064.4(MIP):c.714G>A (p.Lys238=)	MIP	Single nucleotide variant (synonymous variant)	Cataract 15 multiple types	GLikely benign
Select item 573816	NM_012064.4(MIP):c.713A>C (p.Lys238Thr)	MIP (K238T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1176948	NM_012064.4(MIP):c.698_699del (p.Arg233fs)	MIP (R233fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 432015	NM_012064.4(MIP):c.698G>A (p.Arg233Lys)	MIP (R233K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1695911	NM_012064.4(MIP):c.694G>C (p.Glu232Gln)	MIP (E232Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2429698	NM_012064.4(MIP):c.638G>A (p.Gly213Asp)	MIP (G213D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50960	NM_012064.4(MIP):c.638del (p.Gly213fs)	MIP (G213fs)	Deletion (frameshift variant)	MIP-related condition +2 more	GPathogenic
Select item 1806189	NM_012064.4(MIP):c.616_632del (p.Val206fs)	MIP (V206fs)	Deletion (frameshift variant)	Cataract 15 multiple types	GPathogenic
Select item 252956	NM_012064.4(MIP):c.631G>T (p.Gly211Ter)	MIP (G211*)	Single nucleotide variant (nonsense)	Developmental cataract	GPathogenic
Select item 474241	NM_012064.4(MIP):c.623del (p.Pro208fs)	MIP (P208fs)	Deletion (frameshift variant)	Cataract 15 multiple types	GPathogenic
Select item 992878	NM_012064.4(MIP):c.615G>A (p.Trp205Ter)	MIP (W205*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1286699	NM_012064.4(MIP):c.607-47A>G	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181080	NM_012064.4(MIP):c.607-54C>T	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237455	NM_012064.4(MIP):c.607-109A>G	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182902	NM_012064.4(MIP):c.607-152G>A	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267288	NM_012064.4(MIP):c.607-229A>C	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2722298	NM_012064.4(MIP):c.606+1G>T	MIP	Single nucleotide variant (splice donor variant)	Cataract 15 multiple types	GPathogenic
Select item 1684886	NM_012064.4(MIP):c.606+1G>A	MIP	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1069403	NM_012064.4(MIP):c.606+1G>C	MIP	Single nucleotide variant (splice donor variant)	Cataract 15 multiple types	GPathogenic
Select item 2629509	NM_012064.4(MIP):c.605G>A (p.Trp202Ter)	MIP (W202*)	Single nucleotide variant (nonsense)	MIP-related condition	GPathogenic
Select item 217345	NM_012064.4(MIP):c.597_598insGGGAACATTCCACT (p.Asn200fs)	MIP (N200fs)	Insertion (frameshift variant)	Developmental cataract	GPathogenic
Select item 2530783	NM_012064.4(MIP):c.584C>G (p.Thr195Ser)	MIP (T195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474240	NM_012064.4(MIP):c.560G>T (p.Arg187Leu)	MIP (R187L)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 1703071	NM_012064.4(MIP):c.559del (p.Arg187fs)	MIP (R187fs)	Deletion (frameshift variant)	Cataract 15 multiple types	GLikely pathogenic
Select item 392878	NM_012064.4(MIP):c.526-2A>C	MIP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1186291	NM_012064.4(MIP):c.526-125G>T	MIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 944316	NM_012064.4(MIP):c.525+1G>A	MIP	Single nucleotide variant (splice donor variant)	Cataract 15 multiple types	GLikely pathogenic
Select item 474239	NM_012064.4(MIP):c.516C>T (p.His172=)	MIP	Single nucleotide variant (synonymous variant)	Cataract 15 multiple types	GBenign
Select item 834061	NM_012064.4(MIP):c.513del (p.His172fs)	MIP (H172fs)	Deletion (frameshift variant)	Microcornea +3 more	GUncertain significance
Select item 377392	NM_012064.4(MIP):c.508dup (p.Leu170fs)	MIP (L170fs)	Duplication (frameshift variant)	Cataract 15 multiple types	GPathogenic
Select item 976010	NM_012064.4(MIP):c.506C>A (p.Ala169Asp)	MIP (A169D)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 3061915	NM_012064.4(MIP):c.493_494insT (p.Gly165fs)	MIP (G165fs)	Insertion (frameshift variant)	Cataract 15 multiple types	GLikely pathogenic
Select item 309884	NM_012064.4(MIP):c.493G>A (p.Gly165Ser)	MIP (G165S)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
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 2313808	NM_012064.4(MIP):c.488C>A (p.Ala163Asp)	MIP (A163D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2915608	NM_012064.4(MIP):c.458G>A (p.Arg153Gln)	MIP (R153Q)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 2326292	NM_012064.4(MIP):c.451G>A (p.Glu151Lys)	MIP (E151K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012009	NM_012064.4(MIP):c.433A>C (p.Ile145Leu)	MIP (I145L)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 880642	NM_012064.4(MIP):c.424G>A (p.Val142Met)	MIP (V142M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 546710	NM_012064.4(MIP):c.418C>A (p.Gln140Lys)	MIP (Q140K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2455262	NM_012064.4(MIP):c.413C>T (p.Thr138Met)	MIP (T138M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 14354	NM_012064.4(MIP):c.413C>G (p.Thr138Arg)	MIP (T138R)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GPathogenic
Select item 391974	NM_012064.4(MIP):c.401A>C (p.Glu134Ala)	MIP (E134A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 14355	NM_012064.4(MIP):c.401A>G (p.Glu134Gly)	MIP (E134G)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GPathogenic
Select item 309885	NM_012064.4(MIP):c.378C>T (p.Ser126=)	MIP	Single nucleotide variant (synonymous variant)	Cataract 15 multiple types	GBenign/Likely benign
Select item 309886	NM_012064.4(MIP):c.361-10C>T	MIP	Single nucleotide variant (intron variant)	Cataract 15 multiple types	GUncertain significance
Select item 1194062	NM_012064.4(MIP):c.360+103C>A	MIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 474238	NM_012064.4(MIP):c.323C>T (p.Thr108Ile)	MIP (T108I)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 260169	NM_012064.4(MIP):c.319G>A (p.Val107Ile)	MIP (V107I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2288689	NM_012064.4(MIP):c.268A>G (p.Met90Val)	MIP (M90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 702547	NM_012064.4(MIP):c.199G>A (p.Val67Ile)	MIP (V67I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2313463	NM_012064.4(MIP):c.182A>G (p.His61Arg)	MIP (H61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992634	NM_012064.4(MIP):c.172T>G (p.Ser58Ala)	MIP (S58A)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 1469523	NM_012064.4(MIP):c.119A>G (p.His40Arg)	MIP (H40R)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 309887	NM_012064.4(MIP):c.98G>A (p.Arg33His)	MIP (R33H)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GLikely benign
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 2541400	NM_012064.4(MIP):c.14G>A (p.Arg5Gln)	MIP (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309888	NM_012064.4(MIP):c.-4T>C	MIP	Single nucleotide variant (5 prime UTR variant)	Cataract 15 multiple types	GLikely benign
Select item 309889	NM_012064.4(MIP):c.-10C>A	MIP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 882055	NM_012064.4(MIP):c.-26C>A	MIP	Single nucleotide variant (5 prime UTR variant)	Cataract 15 multiple types	GUncertain significance

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