Related gene-specific medical variations for Gene (Select 2175) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362443	NM_000135.4(FANCA):c.3759_3762del (p.Glu1254fs)	FANCA (E1254fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3362298	NM_000135.4(FANCA):c.523-1G>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3342059	NM_000135.4(FANCA):c.4248A>T (p.Ser1416=)	FANCA, ZNF276 (T1418S)	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 3339491	NM_000135.4(FANCA):c.4226G>C (p.Arg1409Pro)	FANCA, ZNF276 (R1409P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3337863	NM_000135.4(FANCA):c.4268_*38del (p.Ala1423fs)	FANCA, ZNF276 (A1423fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 3335970	NM_000135.4(FANCA):c.3887A>G (p.Glu1296Gly)	FANCA, ZNF276 (E1296G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335327	NM_001113525.2(ZNF276):c.1777C>T (p.Pro593Ser)	FANCA, ZNF276 (P518S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3277603	NM_000135.4(FANCA):c.4322A>C (p.Gln1441Pro)	FANCA, ZNF276 (Q1441P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3256324	NM_000135.4(FANCA):c.3G>A (p.Met1Ile)	FANCA, LOC112486223 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3243299	NC_000016.9:g.(?_89871693)_(89878808_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243295	NC_000016.9:g.(?_89809264)_(89834808_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243294	NC_000016.9:g.(?_89828179)_(89838178_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243293	NC_000016.9:g.(?_89855566)_(89858898_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243292	NC_000016.9:g.(?_89845189)_(89874795_?)dup	FANCA	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3243290	NC_000016.9:g.(?_89839659)_(89846385_?)dup	FANCA	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3243289	NC_000016.9:g.(?_89839659)_(89849530_?)dup	FANCA	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3243288	NC_000016.9:g.(?_89845189)_(89851392_?)dup	FANCA	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3243287	NC_000016.9:g.(?_89862294)_(89862446_?)dup	FANCA	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3243285	NC_000016.9:g.(?_89836225)_(89869769_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243284	NC_000016.9:g.(?_89851242)_(89871820_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243283	NC_000016.9:g.(?_89836225)_(89874795_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243282	NC_000016.9:g.(?_89842130)_(89874795_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243281	NC_000016.9:g.(?_89871672)_(89880557_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243279	NC_000016.9:g.(?_89811347)_(89877499_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243278	NC_000016.9:g.(?_89828337)_(89877499_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243277	NC_000016.9:g.(?_89845189)_(89877499_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243274	NC_000016.9:g.(?_89805009)_(89807294_?)del	FANCA, ZNF276	Deletion	Fanconi anemia	GPathogenic
Select item 3243273	NC_000016.9:g.(?_89806382)_(89807294_?)del	FANCA, ZNF276	Deletion	Fanconi anemia	GPathogenic
Select item 3243269	NC_000016.9:g.(?_89811347)_(89818822_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243268	NC_000016.9:g.(?_89816118)_(89818650_?)del	FANCA	Deletion	Fanconi anemia	GLikely pathogenic
Select item 3243266	NC_000016.9:g.(?_89809188)_(89825133_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243265	NC_000016.9:g.(?_89815047)_(89828450_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243263	NC_000016.9:g.(?_89818526)_(89828450_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243261	NC_000016.9:g.(?_89818526)_(89831494_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243260	NC_000016.9:g.(?_89824975)_(89831484_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243259	NC_000016.9:g.(?_89811347)_(89833665_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243258	NC_000016.9:g.(?_89824965)_(89833665_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243257	NC_000016.9:g.(?_89831215)_(89839812_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243256	NC_000016.9:g.(?_89839659)_(89845431_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243255	NC_000016.9:g.(?_89815057)_(89846375_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243252	NC_000016.9:g.(?_89849247)_(89849530_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243251	NC_000016.9:g.(?_89818526)_(89851392_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243250	NC_000016.9:g.(?_89836225)_(89851392_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243249	NC_000016.9:g.(?_89845189)_(89851392_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243248	NC_000016.9:g.(?_89849247)_(89851392_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243246	NC_000016.9:g.(?_89849247)_(89858975_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243244	NC_000016.9:g.(?_89811347)_(89862446_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243243	NC_000016.9:g.(?_89815047)_(89862446_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243241	NC_000016.9:g.(?_89857791)_(89862446_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243240	NC_000016.9:g.(?_89869647)_(89883023_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243239	NC_000016.9:g.(?_89871668)_(89883024_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243237	NC_000016.9:g.(?_89877095)_(89883024_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243236	NC_000016.9:g.(?_89831215)_(89883024_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243235	NC_000016.9:g.(?_89833529)_(89883024_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243234	NC_000016.9:g.(?_89849257)_(89883024_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243233	NC_000016.9:g.(?_89857791)_(89883024_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243232	NC_000016.9:g.(?_89858869)_(89883033_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243230	NC_000016.9:g.(?_89862294)_(89883024_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243228	NC_000016.9:g.(?_89869647)_(89869769_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243227	NC_000016.9:g.(?_89874682)_(89874795_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243226	NC_000016.9:g.(?_89815049)_(89815185_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243225	NC_000016.9:g.(?_89828337)_(89828450_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3243224	NC_000016.9:g.(?_89862294)_(89862446_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 3242271	GRCh37/hg19 16q24.3(chr16:89826719-89889835)x1	FANCA	Copy number loss	not provided	GPathogenic
Select item 3241554	NM_000135.4(FANCA):c.427-1G>A	FANCA	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241553	NM_000135.4(FANCA):c.4257_4260+16delinsTTCTCA	ZNF276, FANCA	Indel (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241552	NM_000135.4(FANCA):c.2685del (p.Leu896fs)	FANCA, LOC130059837 (L896fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241551	NM_000135.4(FANCA):c.2728_2731del (p.Leu910fs)	FANCA (L910fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241550	NM_000135.4(FANCA):c.2562_2564delinsGA (p.Asp854fs)	FANCA (D854fs)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241549	NM_000135.4(FANCA):c.598del (p.His200fs)	FANCA (H168fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241548	NM_000135.4(FANCA):c.3627-2A>G	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241547	NM_000135.4(FANCA):c.976C>T (p.Gln326Ter)	FANCA (Q326*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241546	NM_000135.4(FANCA):c.2140C>T (p.Arg714Trp)	FANCA (R714W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 3241545	NM_000135.4(FANCA):c.3919C>T (p.Gln1307Ter)	FANCA, ZNF276 (Q1307*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia complementation group A	GPathogenic
Select item 3241544	NM_000135.4(FANCA):c.3446_3449dup (p.Met1151fs)	FANCA (M1151fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 3241543	NM_000135.4(FANCA):c.2909C>A (p.Ser970Ter)	FANCA (S970*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241542	NM_000135.4(FANCA):c.2223-2A>T	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241541	NM_000135.4(FANCA):c.3703C>T (p.Gln1235Ter)	FANCA (Q1235*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GPathogenic
Select item 3241540	NM_000135.4(FANCA):c.2981+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241539	NM_000135.4(FANCA):c.523-1del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241538	NM_000135.4(FANCA):c.734_756delinsA (p.Arg245fs)	FANCA (R213fs +1 more)	Indel (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241537	NM_000135.4(FANCA):c.832dup (p.Leu278fs)	FANCA (L246fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241536	NM_000135.4(FANCA):c.3217_3218del (p.Arg1073fs)	FANCA (R1073fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241535	NM_000135.4(FANCA):c.2314del (p.Gln772fs)	FANCA (Q772fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241534	NM_000135.4(FANCA):c.1340C>A (p.Ser447Ter)	FANCA (S447*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3241533	NM_000135.4(FANCA):c.4164_4167+13del	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3238627	GRCh38/hg38 16q24.3(chr16:89773385-89775741)	FANCA	Copy number loss	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3234882	NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)	FANCA, LOC130059837 (R894*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3234635	NM_000135.4(FANCA):c.3857A>G (p.His1286Arg)	FANCA, ZNF276 (H1286R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3194828	NM_001113525.2(ZNF276):c.1823C>T (p.Ala608Val)	FANCA, ZNF276 (A608V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194827	NM_001113525.2(ZNF276):c.1756G>C (p.Ala586Pro)	FANCA, ZNF276 (A586P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3092783	NM_000135.4(FANCA):c.4168G>A (p.Gly1390Ser)	FANCA, ZNF276 (G1390S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3092782	NM_000135.4(FANCA):c.4085T>C (p.Leu1362Ser)	FANCA, ZNF276 (L1362S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3067970	NM_000135.4(FANCA):c.1083+1del	FANCA	Deletion (splice donor variant)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 3067278	NM_000135.4(FANCA):c.4261C>T (p.Leu1421=)	FANCA, ZNF276 (A1422V)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3065970	NM_000135.4(FANCA):c.2187C>A (p.Asn729Lys)	FANCA (N729K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 3029814	NM_000135.4(FANCA):c.4261-23G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	FANCA-related disorder	GLikely benign
Select item 3022788	NM_000135.4(FANCA):c.4261-20G>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia	GLikely benign
Select item 3019223	NM_000135.4(FANCA):c.42C>T (p.Asp14=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017163	NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)	FANCA, LOC130059837 (R880L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance

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