ClinVar for MedGen (Select 1823955) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431587	NM_013435.3(RAX):c.544G>A (p.Val182Met)	RAX (V182M)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 2425868	NC_000018.9:g.(?_55217944)_(58040587_?)del	ALPK2, ATP8B1 +14 more	Deletion	Isolated microphthalmia 3	GPathogenic
Select item 2127199	NM_013435.3(RAX):c.538G>C (p.Val180Leu)	RAX (V180L)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 2072521	NM_013435.3(RAX):c.290-7G>T	RAX	Single nucleotide variant (intron variant)	Isolated microphthalmia 3	GLikely benign
Select item 2055375	NM_013435.3(RAX):c.867G>T (p.Leu289Phe)	RAX (L289F)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 1801041	NM_013435.3(RAX):c.497G>C (p.Arg166Pro)	RAX (R166P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723190	NM_013435.3(RAX):c.266del (p.Pro89fs)	RAX (P89fs)	Deletion (frameshift variant)	Isolated microphthalmia 3	GPathogenic
Select item 1723189	NM_013435.3(RAX):c.560G>A (p.Arg187Gln)	RAX (R187Q)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GPathogenic
Select item 1723188	NM_013435.3(RAX):c.543+3A>G	RAX	Single nucleotide variant (intron variant)	Isolated microphthalmia 3	GPathogenic
Select item 1442550	NM_013435.3(RAX):c.202G>A (p.Gly68Ser)	RAX (G68S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 1363557	NM_013435.3(RAX):c.286G>C (p.Glu96Gln)	RAX (E96Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1123590	NM_013435.3(RAX):c.657G>T (p.Ala219=)	LOC130062601, RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GLikely benign
Select item 1103075	NM_013435.3(RAX):c.78C>A (p.Gly26=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GLikely benign
Select item 959738	NM_013435.3(RAX):c.800C>T (p.Ala267Val)	RAX (A267V)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3 +1 more	GUncertain significance
Select item 943642	NM_013435.3(RAX):c.30G>A (p.Met10Ile)	RAX (M10I)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892545	NM_013435.3(RAX):c.279C>A (p.Pro93=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892544	NM_013435.3(RAX):c.328C>G (p.Arg110Gly)	RAX (R110G)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3 +1 more	GUncertain significance
Select item 892543	NM_013435.3(RAX):c.521A>G (p.Asn174Ser)	RAX (N174S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892542	NM_013435.3(RAX):c.612G>A (p.Leu204=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GConflicting classifications of pathogenicity
Select item 892541	NM_013435.3(RAX):c.618C>T (p.Asp206=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892540	NM_013435.3(RAX):c.710G>A (p.Gly237Asp)	LOC130062601, RAX (G237D)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892487	NM_013435.3(RAX):c.*857G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892486	NM_013435.3(RAX):c.*1038C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892485	NM_013435.3(RAX):c.*1089C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892484	NM_013435.3(RAX):c.*1127C>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892483	NM_013435.3(RAX):c.*1194G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892430	NM_013435.3(RAX):c.*1921C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891348	NM_013435.3(RAX):c.750G>A (p.Pro250=)	LOC130062601, RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891347	NM_013435.3(RAX):c.863C>A (p.Pro288Gln)	RAX (P288Q)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891346	NM_013435.3(RAX):c.921C>G (p.Pro307=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891288	NM_013435.3(RAX):c.*1350T>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891287	NM_013435.3(RAX):c.*1363G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889866	NM_013435.3(RAX):c.-94G>A	RAX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889865	NM_013435.3(RAX):c.-36G>A	RAX	Single nucleotide variant (5 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889864	NM_013435.3(RAX):c.105C>T (p.Ile35=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889804	NM_013435.3(RAX):c.998A>G (p.Lys333Arg)	RAX (K333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889803	NM_013435.3(RAX):c.*29C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889802	NM_013435.3(RAX):c.*46C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889801	NM_013435.3(RAX):c.*88C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889800	NM_013435.3(RAX):c.*294C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GBenign
Select item 889743	NM_013435.3(RAX):c.*1418G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889742	NM_013435.3(RAX):c.*1437G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 889741	NM_013435.3(RAX):c.*1564T>C	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889740	NM_013435.3(RAX):c.*1651G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889183	NM_013435.3(RAX):c.153C>G (p.Phe51Leu)	RAX (F51L)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889182	NM_013435.3(RAX):c.215C>G (p.Ala72Gly)	RAX (A72G)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3 +2 more	GUncertain significance
Select item 889111	NM_013435.3(RAX):c.*353G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889110	NM_013435.3(RAX):c.*409G>A	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889109	NM_013435.3(RAX):c.*705G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889108	NM_013435.3(RAX):c.*711G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889107	NM_013435.3(RAX):c.*797G>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889052	NM_013435.3(RAX):c.*1674A>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889051	NM_013435.3(RAX):c.*1771G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889050	NM_013435.3(RAX):c.*1795C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 772773	NM_013435.3(RAX):c.783G>C (p.Pro261=)	LOC130062601, RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GConflicting classifications of pathogenicity
Select item 767328	NM_013435.3(RAX):c.24A>G (p.Pro8=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3 +1 more	GConflicting classifications of pathogenicity
Select item 766849	NM_013435.3(RAX):c.290-4C>A	RAX	Single nucleotide variant (intron variant)	Isolated microphthalmia 3 +1 more	GConflicting classifications of pathogenicity
Select item 733750	NM_013435.3(RAX):c.544-7C>T	RAX	Single nucleotide variant (intron variant)	Isolated microphthalmia 3	GLikely benign
Select item 714458	NM_013435.3(RAX):c.610C>A (p.Leu204Met)	RAX (L204M)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GBenign
Select item 707259	NM_013435.3(RAX):c.289+8C>G	RAX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 707168	NM_013435.3(RAX):c.516G>A (p.Lys172=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GLikely benign
Select item 707012	NM_013435.3(RAX):c.148A>C (p.Thr50Pro)	RAX (T50P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 645205	NM_013435.3(RAX):c.697G>T (p.Gly233Trp)	LOC130062601, RAX (G233W)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 496932	NM_013435.3(RAX):c.197G>C (p.Arg66Thr)	RAX (R66T)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3 +1 more	GConflicting classifications of pathogenicity
Select item 468922	NM_013435.3(RAX):c.729C>A (p.Ser243=)	LOC130062601, RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GLikely benign
Select item 327537	NM_013435.3(RAX):c.-104C>T	RAX	Single nucleotide variant (5 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327536	NM_013435.3(RAX):c.118G>C (p.Gly40Arg)	RAX (G40R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327535	NM_013435.3(RAX):c.166G>A (p.Gly56Ser)	RAX (G56S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3 +1 more	GUncertain significance
Select item 327534	NM_013435.3(RAX):c.173G>C (p.Arg58Pro)	RAX (R58P)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327533	NM_013435.3(RAX):c.544-11C>G	RAX	Single nucleotide variant (intron variant)	Isolated microphthalmia 3 +1 more	GConflicting classifications of pathogenicity
Select item 327532	NM_013435.3(RAX):c.745C>T (p.Leu249=)	LOC130062601, RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GLikely benign
Select item 327531	NM_013435.3(RAX):c.835C>G (p.Pro279Ala)	RAX (P279A)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327530	NM_013435.3(RAX):c.922G>A (p.Gly308Ser)	RAX (G308S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327529	NM_013435.3(RAX):c.*120C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327528	NM_013435.3(RAX):c.*236C>T	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 327527	NM_013435.3(RAX):c.*291C>T	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 327526	NM_013435.3(RAX):c.*328A>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327525	NM_013435.3(RAX):c.*376C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3 +1 more	GLikely benign
Select item 327524	NM_013435.3(RAX):c.*850C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3 +1 more	GUncertain significance
Select item 327523	NM_013435.3(RAX):c.*908T>C	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 327522	NM_013435.3(RAX):c.*917C>T	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 327521	NM_013435.3(RAX):c.*1272G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3 +1 more	GLikely benign
Select item 327520	NM_013435.3(RAX):c.*1300A>G	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 327519	NM_013435.3(RAX):c.*1319C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3 +1 more	GLikely benign
Select item 327517	NM_013435.3(RAX):c.*1361G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327516	NM_013435.3(RAX):c.*1362G>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327515	NM_013435.3(RAX):c.*1365G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327510	NM_013435.3(RAX):c.*1389C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327509	NM_013435.3(RAX):c.*1437G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327508	NM_013435.3(RAX):c.*1516G>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 327507	NM_013435.3(RAX):c.*1525G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327506	NM_013435.3(RAX):c.*1547G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327505	NM_013435.3(RAX):c.*1737C>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327504	NM_013435.3(RAX):c.*1746G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GBenign
Select item 327503	NM_013435.3(RAX):c.*1756C>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327502	NM_013435.3(RAX):c.*1817A>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327501	NM_013435.3(RAX):c.*1878T>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3 +1 more	GLikely benign
Select item 260310	NM_013435.3(RAX):c.882A>G (p.Gln294=)	RAX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 260309	NM_013435.3(RAX):c.132C>A (p.Asp44Glu)	RAX (D44E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 7638	NM_013435.3(RAX):c.909C>G (p.Tyr303Ter)	RAX (Y303*)	Single nucleotide variant (nonsense)	Isolated microphthalmia 3	GPathogenic

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