ClinVar for MedGen (Select 814437) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3004496	NM_001195.5(BFSP1):c.205C>T (p.Arg69Trp)	BFSP1 (R69W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2960899	NM_001195.5(BFSP1):c.892G>A (p.Ala298Thr)	BFSP1 (A298T +4 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 2913521	NM_001195.5(BFSP1):c.658G>A (p.Ala220Thr)	BFSP1 (A81T +3 more)	Single nucleotide variant (missense variant +1 more)	Cataract 33	GUncertain significance
Select item 2908735	NM_001195.5(BFSP1):c.1678C>T (p.Arg560Cys)	BFSP1 (R524C +4 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 2895983	NM_001195.5(BFSP1):c.1927G>A (p.Ala643Thr)	BFSP1 (A532T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2892057	NM_001195.5(BFSP1):c.366G>A (p.Glu122=)	BFSP1	Single nucleotide variant (synonymous variant +1 more)	Cataract 33	GLikely benign
Select item 2849469	NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys)	BFSP1 (E590K +4 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 2808257	NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln)	BFSP1 (R344Q +4 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 2781433	NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr)	BFSP1 (D277Y +4 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 2777911	NM_001195.5(BFSP1):c.628-14C>T	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GLikely benign
Select item 2721088	NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn)	BFSP1 (D19N)	Single nucleotide variant (missense variant +1 more)	Cataract 33	GUncertain significance
Select item 2719201	NM_001195.5(BFSP1):c.1884C>T (p.Ile628=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33	GLikely benign
Select item 2712460	NM_001195.5(BFSP1):c.384A>G (p.Glu128=)	BFSP1	Single nucleotide variant (synonymous variant +1 more)	Cataract 33	GLikely benign
Select item 2699775	NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs)	BFSP1 (E290fs +4 more)	Insertion (frameshift variant)	Cataract 33	GUncertain significance
Select item 2423954	NC_000020.10:g.(?_17462209)_(17511974_?)dup	BFSP1, PCSK2	Duplication	Cataract 33	GUncertain significance
Select item 2381570	NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp)	BFSP1 (G46W)	Single nucleotide variant (missense variant +1 more)	Cataract 33 +1 more	GUncertain significance
Select item 2189080	NM_001195.5(BFSP1):c.1332A>G (p.Leu444=)	BFSP1	Single nucleotide variant (synonymous variant)	BFSP1-related disorder +1 more	GBenign
Select item 2158997	NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln)	BFSP1 (R182Q +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 2128124	NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33	GUncertain significance
Select item 2119463	NM_001195.5(BFSP1):c.561C>T (p.Ile187=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33	GLikely benign
Select item 2111421	NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)	BFSP1 (C148fs +3 more)	Microsatellite (frameshift variant)	Cataract 33	GPathogenic
Select item 2068349	NM_001195.5(BFSP1):c.93C>A (p.Ala31=)	BFSP1	Single nucleotide variant (synonymous variant +1 more)	Cataract 33	GLikely benign
Select item 2053401	NM_001195.5(BFSP1):c.30C>T (p.Thr10=)	BFSP1	Single nucleotide variant (synonymous variant +1 more)	Cataract 33	GLikely benign
Select item 2048624	NM_001195.5(BFSP1):c.957-3C>T	BFSP1	Single nucleotide variant (intron variant)	BFSP1-related disorder +1 more	GLikely benign
Select item 2043102	NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly)	BFSP1 (A40G +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 2024413	NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp)	BFSP1 (R172W +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 1635959	NM_001195.5(BFSP1):c.735+17C>T	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GLikely benign
Select item 1634197	NM_001195.5(BFSP1):c.736-16G>A	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GBenign
Select item 1621951	NM_001195.5(BFSP1):c.735+9G>A	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GLikely benign
Select item 1621496	NM_001195.5(BFSP1):c.627+9T>G	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GLikely benign
Select item 1610121	NM_001195.5(BFSP1):c.183C>T (p.Leu61=)	BFSP1	Single nucleotide variant (synonymous variant +1 more)	Cataract 33	GLikely benign
Select item 1530192	NM_001195.5(BFSP1):c.378-16T>C	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GLikely benign
Select item 1497022	NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile)	BFSP1 (T537I +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 1449118	NM_001195.5(BFSP1):c.735+19C>T	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GUncertain significance
Select item 1373792	NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln)	BFSP1 (K447Q +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 1370723	NM_001195.5(BFSP1):c.526C>T (p.His176Tyr)	BFSP1 (H176Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1301590	NM_001195.5(BFSP1):c.1438G>T (p.Val480Leu)	BFSP1 (V341L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1192356	NM_001195.5(BFSP1):c.535-42G>A	BFSP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192355	NM_001195.5(BFSP1):c.735+121G>T	BFSP1	Single nucleotide variant (intron variant)	Cataract 33 +1 more	GBenign
Select item 1192354	NM_001195.5(BFSP1):c.957-83T>C	BFSP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166147	NM_001195.5(BFSP1):c.1749A>T (p.Pro583=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33 +1 more	GBenign/Likely benign
Select item 1134023	NM_001195.5(BFSP1):c.403C>T (p.Leu135Phe)	BFSP1 (L10F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1066273	NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro)	BFSP1 (L72P)	Single nucleotide variant (missense variant +1 more)	Cataract 33	GLikely pathogenic
Select item 1056991	NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala)	BFSP1 (T351A +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 1009059	NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp)	BFSP1 (R104W +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 838855	NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)	BFSP1 (Q189* +3 more)	Single nucleotide variant (nonsense)	Cataract 33	GPathogenic
Select item 702564	NM_001195.5(BFSP1):c.46G>C (p.Glu16Gln)	BFSP1 (E16Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 702116	NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu)	BFSP1 (D531E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 701924	NM_001195.5(BFSP1):c.418A>G (p.Met140Val)	BFSP1 (M140V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 698118	NM_001195.5(BFSP1):c.887C>T (p.Ala296Val)	BFSP1 (A296V +3 more)	Single nucleotide variant (missense variant)	BFSP1-related disorder +2 more	GBenign/Likely benign
Select item 648073	NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn)	BFSP1 (S125N)	Single nucleotide variant (missense variant +1 more)	Cataract 33	GUncertain significance
Select item 570329	NM_001195.5(BFSP1):c.1936G>A (p.Val646Met)	BFSP1 (V646M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 541144	NM_001195.5(BFSP1):c.1437C>T (p.Tyr479=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33	GLikely benign
Select item 541143	NM_001195.5(BFSP1):c.1939G>C (p.Glu647Gln)	BFSP1 (E647Q +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GLikely benign
Select item 541142	NM_001195.5(BFSP1):c.675G>A (p.Leu225=)	BFSP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 541141	NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs)	BFSP1 (V507fs +3 more)	Indel (frameshift variant)	Cataract 33	GUncertain significance
Select item 541140	NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln)	BFSP1 (E468Q +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GUncertain significance
Select item 474092	NM_001195.5(BFSP1):c.956+7G>C	BFSP1	Single nucleotide variant (intron variant)	Cataract 33 +1 more	GLikely benign
Select item 474091	NM_001195.5(BFSP1):c.762A>G (p.Lys254=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33	GBenign
Select item 474090	NM_001195.5(BFSP1):c.1775C>T (p.Ala592Val)	BFSP1 (A592V +3 more)	Single nucleotide variant (missense variant)	BFSP1-related disorder +2 more	GLikely benign
Select item 474089	NM_001195.5(BFSP1):c.137G>C (p.Gly46Ala)	BFSP1 (G46A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 474088	NM_001195.5(BFSP1):c.1148A>G (p.Asn383Ser)	BFSP1 (N383S +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GBenign
Select item 474087	NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp)	BFSP1 (E375D +3 more)	Single nucleotide variant (missense variant)	Cataract 33 +1 more	GBenign/Likely benign
Select item 425559	NM_001195.5(BFSP1):c.1042+3A>G	BFSP1	Single nucleotide variant (intron variant)	Cataract 33	GPathogenic
Select item 425558	NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)	BFSP1 (D348N +3 more)	Single nucleotide variant (missense variant)	Cataract 33	GPathogenic
Select item 424743	NM_001195.4(BFSP1):c.[1492delT];[812T>C]			Developmental cataract	GLikely pathogenic
Select item 257617	NM_001195.5(BFSP1):c.804C>T (p.Asn268=)	BFSP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 257616	NM_001195.5(BFSP1):c.1926C>T (p.Thr642=)	BFSP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 257615	NM_001195.5(BFSP1):c.1749A>G (p.Pro583=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33 +2 more	GBenign
Select item 257614	NM_001195.5(BFSP1):c.1500G>A (p.Ala500=)	BFSP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 257613	NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe)	BFSP1 (A36F)	Indel (missense variant +1 more)	Cataract 33 +2 more	GConflicting classifications of pathogenicity
Select item 257612	NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser)	BFSP1 (G345S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 242475	NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr)	BFSP1 (I271T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 68470	NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)	BFSP1	Deletion (frameshift variant)	Cataract 33	GBenign
Select item 6497	NM_001195.5(BFSP1):c.736-1384_957-66del	BFSP1	Deletion (splice acceptor variant +1 more)	Cataract 33	GPathogenic

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Items: 75