"Baylor Genetics"[submitter] AND "FANCD2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 130

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 998267	NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)	FANCD2 (D12V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1523794	NM_001018115.3(FANCD2):c.64+2T>G	FANCD2	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2675485	NM_001018115.3(FANCD2):c.65-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1900227	NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)	FANCD2, LOC107303338 (I47M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 3241575	NM_001018115.3(FANCD2):c.188_191del (p.Glu63fs)	FANCD2, LOC107303338 (E63fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675502	NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)	FANCD2, LOC107303338 (Q65*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1224523	NM_001018115.3(FANCD2):c.206-1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 2675521	NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)	FANCD2, LOC107303338 (Q76fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241573	NM_001018115.3(FANCD2):c.268C>A (p.Pro90Thr)	FANCD2, LOC107303338 (P90T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 2675497	NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)	FANCD2, LOC107303338 (Y103*)	Duplication (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675514	NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)	FANCD2, LOC107303338 (Y103*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675488	NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)	FANCD2, LOC107303338 (Y103*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 929642	NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)	FANCD2, LOC107303338 (S126G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GPathogenic
Select item 3241576	NM_001018115.3(FANCD2):c.377+2T>C	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675527	NM_001018115.3(FANCD2):c.378-1G>C	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675523	NM_001018115.3(FANCD2):c.389del (p.Ser130fs)	FANCD2, LOC107303338 (S130fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241572	NM_001018115.3(FANCD2):c.458T>G (p.Leu153Ter)	FANCD2, LOC107303338 (L153*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 577155	NM_001018115.3(FANCD2):c.491+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1324377	NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)	FANCD2, LOC107303338 (E169*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675504	NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)	FANCD2, LOC107303338 (R174*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1047033	NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr)	FANCD2, LOC107303338 (I202T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2675510	NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)	FANCD2, LOC107303338 (D221fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675486	NM_001018115.3(FANCD2):c.667del (p.Gln223fs)	FANCD2, LOC107303338 (Q223fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241569	NM_001018115.3(FANCD2):c.695+2T>G	LOC107303338, FANCD2	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241567	NM_001018115.3(FANCD2):c.708dup (p.Glu237fs)	FANCD2, LOC107303338 (E237fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 653154	NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)	FANCD2, LOC107303338 (R253*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 929646	NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	FANCD2, LOC107303338 (K261M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2675495	NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)	FANCD2, LOC107303338 (I282fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 12040	NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	FANCD2, LOC107303338 (R302W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1456103	NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)	FANCD2, LOC107303338 (R328*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 3241578	NM_001018115.3(FANCD2):c.990-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 381559	NM_001018115.3(FANCD2):c.990-1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3241577	NM_001018115.3(FANCD2):c.1042del (p.Asp348fs)	FANCD2, LOC107303338 (D348fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675501	NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)	FANCD2, LOC107303338 (S352fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1690778	NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter)	FANCD2, LOC107303338 (Y356*)	Single nucleotide variant (nonsense)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 935595	NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)	FANCD2, LOC107303338 (I360fs)	Insertion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 414648	NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)	FANCD2, LOC107303338 (H377R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 2675522	NM_001018115.3(FANCD2):c.1135-1G>C	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1224543	NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)	FANCD2, LOC107303338 (R408*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 3241563	NM_001018115.3(FANCD2):c.1243C>T (p.Gln415Ter)	FANCD2, LOC107303338 (Q415*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675498	NM_001018115.3(FANCD2):c.1279-2A>C	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1179148	NM_001018115.3(FANCD2):c.1279-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675525	NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)	FANCD2, LOC107303338 (Q440*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 997475	NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly)	FANCD2, LOC107303338 (S449G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 929655	NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)	FANCD2, LOC107303338 (L457P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675519	NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)	FANCD2, LOC107303338 (Q470*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675509	NM_001018115.3(FANCD2):c.1545+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675531	NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)	FANCD2, LOC107303338 (P526fs)	Deletion (frameshift variant +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675528	NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)	FANCD2, LOC107303338 (R530*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 647630	NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys)	FANCD2, LOC107303338 (Y534C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2675529	NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)	FANCD2, LOC107303338	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675517	NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)	FANCD2, LOC107303338 (Q525* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 3241561	NM_001018115.3(FANCD2):c.1710C>G (p.Tyr570Ter)	FANCD2, LOC107303338 (Y533* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 134313	NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)	FANCD2, LOC107303338 (P593S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GConflicting classifications of pathogenicity
Select item 2675515	NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)	FANCD2, LOC107303338 (Q560fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675511	NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)	FANCD2, LOC107303338 (E585* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675506	NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)	FANCD2, LOC107303338 (Q589* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1076243	NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)	FANCD2, LOC107303338 (A592fs +1 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 582213	NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)	FANCD2, LOC107303338 (Q640H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2675508	NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)	FANCD2, LOC107303338 (L612fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241570	NM_001018115.3(FANCD2):c.1948-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2825529	NM_001018115.3(FANCD2):c.1956del (p.His654fs)	FANCD2, LOC107303338 (H654fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 3241574	NM_001018115.3(FANCD2):c.2021+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675513	NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)	FANCD2, LOC107303338 (Y647* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675530	NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)	FANCD2, LOC107303338 (Q681* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 1499355	NM_001018115.3(FANCD2):c.2169-1G>C	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 1327084	NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser)	FANCD2, LOC107303338 (P690S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GUncertain significance
Select item 1034183	NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp)	FANCD2, LOC107303338 (R735W +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2729138	NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)	FANCD2, LOC107303338 (V741fs +1 more)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2653512	NM_001018115.3(FANCD2):c.2269+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2 +2 more	GLikely pathogenic
Select item 456351	NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)	FANCD2, LOC107303338 (C758S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +3 more	GConflicting classifications of pathogenicity
Select item 1322885	NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	FANCD2, LOC107303338 (R757* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 241735	NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)	FANCD2, LOC107303338 (R815Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 3241579	NM_001018115.3(FANCD2):c.2477del (p.Leu826fs)	FANCD2, LOC107303338 (L789fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1067299	NM_001018115.3(FANCD2):c.2494+2T>C	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2 +1 more	GLikely pathogenic
Select item 3241564	NM_001018115.3(FANCD2):c.2497dup (p.Thr833fs)	FANCD2, LOC107303338 (T796fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 241736	NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)	FANCD2, LOC107303338 (P852R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 265138	NM_001018115.3(FANCD2):c.2605+1G>A	FANCD2, LOC107303338 +1 more	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 2675489	NM_033084.6(FANCD2):c.2609_2613del	FANCD2, LOC107303338	Deletion (splice acceptor variant)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 342370	NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)	FANCD2, LOC107303338 (K871N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2675484	NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)	FANCD2, LOC107303338 (T837fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675499	NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)	FANCD2, LOC107303338 (K836fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 929662	NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)	FANCD2, LOC107303338 (E851fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3241562	NM_001018115.3(FANCD2):c.2672C>A (p.Ser891Ter)	FANCD2, LOC107303338 (S854* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675505	NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)	FANCD2, LOC107303338 (C856fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 667394	NM_001018115.3(FANCD2):c.2715+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GPathogenic
Select item 2675503	NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)	FANCD2, LOC107303338 (T877fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675482	NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)	FANCD2, LOC107303338 (R889* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1034184	NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu)	FANCD2, LOC107303338 (R926L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 407784	NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)	FANCD2, LOC107303338 (I935L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2992224	NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)	FANCD2, LOC107303338	Deletion (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 3241565	NM_001018115.3(FANCD2):c.2860-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675493	NM_033084.6(FANCD2):c.3107_3108del	FANCD2, FANCD2OS	Microsatellite (splice acceptor variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1327068	NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr)	FANCD2, FANCD2OS (I1031T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2	GUncertain significance
Select item 1489289	NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)	FANCD2, FANCD2OS (H1070R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 809378	NM_001018115.3(FANCD2):c.3224+1G>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 2675492	NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)	FANCD2, FANCD2OS (W1038* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241566	NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)	FANCD2, FANCD2OS (Q1043* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675520	NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)	FANCD2, FANCD2OS (N1048fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2079849	NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)	FANCD2, FANCD2OS (R1060* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2