ClinVar for Gene (Select 631) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391681	NM_001195.5(BFSP1):c.1194G>T (p.Lys398Asn)	BFSP1 (K259N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3388058	NM_001195.5(BFSP1):c.711G>A (p.Ala237=)	BFSP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3369682	NM_001195.5(BFSP1):c.1092del (p.Ala365fs)	BFSP1 (A226fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3362055	NM_001195.5(BFSP1):c.393C>A (p.Cys131Ter)	BFSP1 (C131* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3354128	NM_001195.5(BFSP1):c.939C>T (p.Ile313=)	BFSP1	Single nucleotide variant (synonymous variant)	BFSP1-related disorder	GLikely benign
Select item 3353106	NM_001195.5(BFSP1):c.1151G>T (p.Gly384Val)	BFSP1 (G245V +4 more)	Single nucleotide variant (missense variant)	BFSP1-related disorder	GUncertain significance
Select item 3344287	NM_001195.5(BFSP1):c.468A>G (p.Leu156=)	BFSP1	Single nucleotide variant (synonymous variant)	BFSP1-related disorder	GLikely benign
Select item 3338553	NM_001195.5(BFSP1):c.1123G>T (p.Glu375Ter)	BFSP1 (E236* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3260830	NM_001195.5(BFSP1):c.1261C>T (p.Pro421Ser)	BFSP1 (P310S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260829	NM_001195.5(BFSP1):c.647G>A (p.Arg216Gln)	BFSP1 (R216Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260828	NM_001195.5(BFSP1):c.116C>A (p.Thr39Lys)	BFSP1 (T39K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133784	NM_001195.5(BFSP1):c.611C>T (p.Thr204Met)	BFSP1 (T65M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133783	NM_001195.5(BFSP1):c.445G>A (p.Asp149Asn)	BFSP1 (D10N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133782	NM_001195.5(BFSP1):c.42G>C (p.Gln14His)	BFSP1 (Q14H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133781	NM_001195.5(BFSP1):c.1898C>T (p.Thr633Met)	BFSP1 (T508M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133778	NM_001195.5(BFSP1):c.1693C>T (p.Arg565Trp)	BFSP1 (R426W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133777	NM_001195.5(BFSP1):c.1580G>T (p.Gly527Val)	BFSP1 (G388V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133776	NM_001195.5(BFSP1):c.135G>T (p.Gln45His)	BFSP1 (Q45H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133775	NM_001195.5(BFSP1):c.1063G>A (p.Asp355Asn)	BFSP1 (D216N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3045773	NM_001195.5(BFSP1):c.1042+5C>T	BFSP1	Single nucleotide variant (intron variant)	BFSP1-related disorder	GLikely benign
Select item 3039424	NM_001195.5(BFSP1):c.106G>T (p.Ala36Ser)	BFSP1 (A36S)	Single nucleotide variant (missense variant +1 more)	BFSP1-related disorder	GLikely benign
Select item 3039275	NM_001195.5(BFSP1):c.107C>T (p.Ala36Val)	BFSP1 (A36V)	Single nucleotide variant (missense variant +1 more)	BFSP1-related disorder	GLikely benign
Select item 3036826	NM_001195.5(BFSP1):c.1438G>A (p.Val480Met)	BFSP1 (V341M +4 more)	Single nucleotide variant (missense variant)	BFSP1-related disorder	GUncertain significance
Select item 3034575	NM_001195.5(BFSP1):c.1521C>T (p.Asp507=)	BFSP1	Single nucleotide variant (synonymous variant)	BFSP1-related disorder	GLikely benign
Select item 3032569	NM_001195.5(BFSP1):c.657C>T (p.Ala219=)	BFSP1	Single nucleotide variant (synonymous variant +1 more)	BFSP1-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	CST9, CST9L +164 more	Copy number gain	not provided	GPathogenic
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 2652210	NM_001195.5(BFSP1):c.1749A>C (p.Pro583=)	BFSP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623141	NM_001195.5(BFSP1):c.1190C>G (p.Thr397Arg)	BFSP1 (T272R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612783	NM_001195.5(BFSP1):c.266C>T (p.Ala89Val)	BFSP1 (A89V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606998	NM_001195.5(BFSP1):c.1704G>T (p.Glu568Asp)	BFSP1 (E568D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600820	NM_001195.5(BFSP1):c.1885G>A (p.Glu629Lys)	BFSP1 (E490K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596215	NM_001195.5(BFSP1):c.902C>A (p.Thr301Asn)	BFSP1 (T162N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2557083	NM_001195.5(BFSP1):c.206G>A (p.Arg69Gln)	BFSP1 (R69Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535224	NM_001195.5(BFSP1):c.20T>C (p.Val7Ala)	BFSP1 (V7A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529822	NM_001195.5(BFSP1):c.1694G>A (p.Arg565Gln)	BFSP1 (R426Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2528361	NM_001195.5(BFSP1):c.1100C>T (p.Pro367Leu)	BFSP1 (P228L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523332	NM_001195.5(BFSP1):c.1966G>T (p.Asp656Tyr)	BFSP1 (D545Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504665	NM_001195.5(BFSP1):c.124del (p.Ala42fs)	BFSP1 (A42fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2483370	NM_001195.5(BFSP1):c.32G>T (p.Arg11Leu)	BFSP1 (R11L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482409	NM_001195.5(BFSP1):c.952A>G (p.Asn318Asp)	BFSP1 (N179D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481756	NM_001195.5(BFSP1):c.322C>G (p.Arg108Gly)	BFSP1 (R108G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457289	NM_001195.5(BFSP1):c.202C>T (p.Leu68Phe)	BFSP1 (L68F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456123	NM_001195.5(BFSP1):c.1510G>A (p.Val504Met)	BFSP1 (V379M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423954	NC_000020.10:g.(?_17462209)_(17511974_?)dup	BFSP1, PCSK2	Duplication	Cataract 33	GUncertain significance
Select item 2393314	NM_001195.5(BFSP1):c.280A>C (p.Ser94Arg)	BFSP1 (S94R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384372	NM_001195.5(BFSP1):c.212A>C (p.Gln71Pro)	BFSP1 (Q71P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2354219	NM_001195.5(BFSP1):c.394G>A (p.Glu132Lys)	BFSP1 (E21K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346635	NM_001195.5(BFSP1):c.1736G>C (p.Gly579Ala)	BFSP1 (G468A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342721	NM_001195.5(BFSP1):c.70G>A (p.Ala24Thr)	BFSP1 (A24T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340709	NM_001195.5(BFSP1):c.1378A>G (p.Thr460Ala)	BFSP1 (T349A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332522	NM_001195.5(BFSP1):c.982C>T (p.Pro328Ser)	BFSP1 (P203S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285533	NM_001195.5(BFSP1):c.1865T>C (p.Val622Ala)	BFSP1 (V483A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275698	NM_001195.5(BFSP1):c.721G>C (p.Glu241Gln)	BFSP1 (E116Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246709	NM_001195.5(BFSP1):c.1168C>G (p.Pro390Ala)	BFSP1 (P390A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236300	NM_001195.5(BFSP1):c.766G>A (p.Ala256Thr)	BFSP1 (A256T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189080	NM_001195.5(BFSP1):c.1332A>G (p.Leu444=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33	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)	Cataract 33	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 1808835	GRCh37/hg19 20p12.1(chr20:17458552-17587385)x1	BFSP1, DSTN +1 more	Copy number loss	not provided	GUncertain significance
Select item 1804604	NM_001195.5(BFSP1):c.279G>T (p.Glu93Asp)	BFSP1 (E93D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804600	NM_001195.5(BFSP1):c.1892T>A (p.Ile631Asn)	BFSP1 (I492N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804262	NM_001195.5(BFSP1):c.535-2A>G	BFSP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1707265	NM_001195.5(BFSP1):c.534+38C>T	BFSP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1343878	NM_001195.5(BFSP1):c.535-177A>G	BFSP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1302116	NM_001195.5(BFSP1):c.647G>C (p.Arg216Pro)	BFSP1 (R105P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3