ClinVar for MedGen (Select 371416) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2950333	NM_005360.5(MAF):c.861C>T (p.Ile287=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2943352	NM_005360.5(MAF):c.726G>T (p.Ala242=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2941805	NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del)	MAF	Deletion (inframe_deletion)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2941594	NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del)	MAF	Microsatellite (inframe_deletion)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2937201	NM_005360.5(MAF):c.490_501del (p.Val164_Val167del)	MAF	Deletion (inframe_deletion)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2937188	NM_005360.5(MAF):c.260A>C (p.His87Pro)	MAF (H87P)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2936785	NM_005360.5(MAF):c.1119-12T>C	MAF	Single nucleotide variant (3 prime UTR variant +1 more)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2932667	NM_005360.5(MAF):c.892A>C (p.Asn298His)	MAF (N298H)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2931732	NM_005360.5(MAF):c.592G>A (p.Gly198Ser)	MAF (G198S)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2923011	NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly)	MAF	Microsatellite (inframe_insertion)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2922656	NM_005360.5(MAF):c.138C>T (p.Cys46=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2921962	NM_005360.5(MAF):c.894C>A (p.Asn298Lys)	MAF (N298K)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2584595	NM_005360.5(MAF):c.860T>G (p.Ile287Ser)	MAF (I287S)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2141242	NM_005360.5(MAF):c.644G>A (p.Gly215Asp)	MAF (G215D)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2093066	NM_005360.5(MAF):c.935A>G (p.Gln312Arg)	MAF (Q312R)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2075189	NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del)	MAF	Microsatellite (inframe_deletion)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2073859	NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis)	MAF	Microsatellite (inframe_insertion)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2064881	NM_005360.5(MAF):c.468G>C (p.Glu156Asp)	MAF (E156D)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2063482	NM_005360.5(MAF):c.655G>A (p.Gly219Ser)	MAF (G219S)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2039591	NM_005360.5(MAF):c.264G>A (p.Leu88=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2037992	NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly)	MAF	Microsatellite (inframe_insertion)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2024686	NM_005360.5(MAF):c.308C>A (p.Pro103His)	MAF (P103H)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 2009875	NM_005360.5(MAF):c.828G>A (p.Arg276=)	MAF	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2001513	NM_005360.5(MAF):c.866T>A (p.Leu289Gln)	MAF (L289Q)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 2000538	NM_005360.5(MAF):c.902A>G (p.Tyr301Cys)	MAF (Y301C)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 1955367	NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly)	MAF	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 1951400	NM_005360.5(MAF):c.594C>T (p.Gly198=)	MAF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1912193	NM_005360.5(MAF):c.641G>C (p.Gly214Ala)	MAF (G214A)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GBenign
Select item 1805709	NM_005360.5(MAF):c.712G>T (p.Gly238Cys)	MAF (G238C)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GUncertain significance
Select item 1721911	NM_005360.5(MAF):c.922A>G (p.Lys308Glu)	MAF (K308E)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 1709517	NM_005360.5(MAF):c.984C>G (p.Asp328Glu)	MAF (D328E)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GUncertain significance
Select item 1699336	NM_005360.5(MAF):c.412C>A (p.Leu138Met)	MAF (L138M)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1679613	NM_005360.5(MAF):c.487G>C (p.Val163Leu)	MAF (V163L)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GUncertain significance
Select item 1630208	NM_005360.5(MAF):c.810T>G (p.Ser270=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 1630207	NM_005360.5(MAF):c.939A>G (p.Arg313=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 1622296	NM_005360.5(MAF):c.456C>T (p.Gly152=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GBenign
Select item 1612799	NM_005360.5(MAF):c.696C>T (p.Gly232=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 1540002	NM_005360.5(MAF):c.285C>A (p.Thr95=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +2 more	GLikely benign
Select item 1470812	NM_005360.5(MAF):c.797T>G (p.Leu266Arg)	MAF (L266R)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 1431263	NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del)	MAF	Microsatellite (inframe_deletion)	Cataract 21 multiple types +1 more	GBenign
Select item 1360617	NM_005360.5(MAF):c.895C>T (p.Arg299Cys)	MAF (R299C)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GPathogenic
Select item 1350488	NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)	MAF	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1320073	NM_005360.5(MAF):c.185C>T (p.Thr62Met)	MAF (T62M)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GLikely pathogenic
Select item 1313952	NM_005360.5(MAF):c.460G>A (p.Gly154Ser)	MAF (G154S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1220193	NM_005360.5(MAF):c.433G>A (p.Gly145Ser)	MAF (G145S)	Single nucleotide variant (missense variant)	MAF-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1184399	NM_005360.5(MAF):c.743C>A (p.Pro248Gln)	MAF (P248Q)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GUncertain significance
Select item 1168532	NM_005360.5(MAF):c.1179G>A (p.Gln393=)	MAF	Single nucleotide variant (3 prime UTR variant +1 more)	MAF-related disorder +3 more	GBenign/Likely benign
Select item 1155650	NM_005360.5(MAF):c.528C>G (p.Gly176=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 1144321	NM_005360.5(MAF):c.678CGG[7] (p.Gly238del)	MAF (G238del)	Microsatellite (inframe_deletion)	Cataract 21 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 1089386	NM_005360.5(MAF):c.649G>A (p.Gly217Ser)	MAF (G217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1058387	NM_005360.5(MAF):c.435_440del (p.143GA[2])	MAF	Deletion (inframe_deletion)	Cataract 21 multiple types +1 more	GLikely benign
Select item 1028885	NM_005360.5(MAF):c.60A>T (p.Glu20Asp)	MAF (E20D)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GUncertain significance
Select item 961910	NM_005360.5(MAF):c.914G>A (p.Cys305Tyr)	MAF (C305Y)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 957132	NM_005360.5(MAF):c.905C>A (p.Ala302Asp)	MAF (A302D)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 952303	NM_005360.5(MAF):c.916C>G (p.Arg306Gly)	MAF (R306G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 864654	NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)	MAF (E370D)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 830955	NC_000016.10:g.(?_79594440)_(79599922_?)del	MAF	Deletion	Cataract 21 multiple types +1 more	GPathogenic
Select item 772194	NM_005360.5(MAF):c.696C>A (p.Gly232=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +2 more	GLikely benign
Select item 771101	NM_005360.5(MAF):c.1028C>T (p.Ala343Val)	MAF (A343V)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GBenign
Select item 707042	NM_005360.5(MAF):c.453C>A (p.Gly151=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 664291	NM_005360.5(MAF):c.881G>A (p.Arg294Gln)	MAF (R294Q)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GPathogenic
Select item 655227	NC_000016.10:g.(?_78278583)_(80589366_?)del	LOC111429607, LOC112486209 +47 more	Deletion	Cataract 21 multiple types +1 more	GPathogenic
Select item 576664	NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup)	MAF	Microsatellite (inframe_insertion)	not provided +3 more	GLikely benign
Select item 541765	NM_005360.5(MAF):c.942C>T (p.His314=)	MAF	Single nucleotide variant (synonymous variant)	Cataract 21 multiple types +1 more	GLikely benign
Select item 541764	NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)	MAF (Q99fs)	Indel (frameshift variant)	Cataract 21 multiple types +1 more	GPathogenic
Select item 541763	NM_005360.5(MAF):c.293C>A (p.Pro98Gln)	MAF (P98Q)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +1 more	GUncertain significance
Select item 474940	NM_005360.5(MAF):c.905C>T (p.Ala302Val)	MAF (A302V)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome +1 more	GLikely pathogenic
Select item 474939	NM_005360.5(MAF):c.768C>G (p.His256Gln)	MAF (H256Q)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome +1 more	GUncertain significance
Select item 474938	NM_005360.5(MAF):c.715G>A (p.Ala239Thr)	MAF (A239T)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome +2 more	GBenign/Likely benign
Select item 474937	NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)	MAF	Deletion (inframe_deletion)	not provided +3 more	GLikely benign
Select item 474936	NM_005360.5(MAF):c.611G>T (p.Gly204Val)	MAF (G204V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 259754	NM_005360.5(MAF):c.882G>A (p.Arg294=)	MAF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 259753	NM_005360.5(MAF):c.702A>C (p.Gly234=)	MAF	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 259752	NM_005360.5(MAF):c.-30GGC[7]	MAF	Microsatellite (5 prime UTR variant)	Ayme-Gripp syndrome +3 more	GBenign
Select item 162518	NM_005360.5(MAF):c.206C>G (p.Pro69Arg)	MAF (P69R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 162517	NM_005360.5(MAF):c.185C>G (p.Thr62Arg)	MAF (T62R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 162516	NM_005360.5(MAF):c.176C>T (p.Pro59Leu)	MAF (P59L)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GPathogenic
Select item 162515	NM_005360.5(MAF):c.176C>A (p.Pro59His)	MAF (P59H)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GPathogenic
Select item 162514	NM_005360.5(MAF):c.173C>T (p.Thr58Ile)	MAF (T58I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 162513	NM_005360.5(MAF):c.172A>G (p.Thr58Ala)	MAF (T58A)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GPathogenic
Select item 162512	NM_005360.5(MAF):c.161C>T (p.Ser54Leu)	MAF (S54L)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 81