C3469521[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210988	NM_006296.7(VRK2):c.102_105dup	VRK2, FANCL (T372fs +3 more)	Duplication (frameshift variant +1 more)	FANCL-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 414859	NM_018062.4(FANCL):c.1021-6T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia complementation group L +3 more	GLikely benign
Select item 456349	NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	FANCD2, LOC107303338 (T61M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GConflicting classifications of pathogenicity
Select item 257065	NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +5 more	GBenign
Select item 695992	NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +5 more	GLikely benign
Select item 134312	NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	FANCD2, LOC107303338 (N545S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group A +4 more	GBenign/Likely benign
Select item 134315	NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	FANCD2, LOC107303338 (P714L +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	FANCC, AOPEP (Q465R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GBenign/Likely benign
Select item 134296	NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	AOPEP, FANCC (S386P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity
Select item 127548	NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	AOPEP, FANCC (I312V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GConflicting classifications of pathogenicity
Select item 127544	NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	AOPEP, FANCC (P211R)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	FANCC, AOPEP (D195V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity
Select item 134301	NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	FANCC (S26F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +6 more	GConflicting classifications of pathogenicity
Select item 456276	NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)	FANCM, LOC130055524 (R18Q)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GConflicting classifications of pathogenicity
Select item 414849	NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)	FANCM (R1099H +1 more)	Single nucleotide variant (missense variant)	FANCM-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 210985	NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	FANCI (L605F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 408245	NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)	FANCI (V1236I +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 215538	NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)	SLX4 (R1550W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +4 more	GBenign/Likely benign
Select item 407928	NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)	SLX4 (P885L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 414709	NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)	SLX4 (Y546C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 319175	NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)	SLX4 (A516V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 407933	NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)	SLX4 (T156K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 241689	NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	SLX4 (G141W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +4 more	GConflicting classifications of pathogenicity
Select item 255268	NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 321326	NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)	FANCA, ZNF276 (R1425H)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 134282	NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	ZNF276, FANCA (H1417D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 215634	NM_000135.4(FANCA):c.3981C>T (p.His1327=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 550150	NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)	FANCA, ZNF276 (L1320del)	Microsatellite (inframe_deletion +2 more)	not specified +2 more	GUncertain significance
Select item 321329	NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)	FANCA, ZNF276 (R1317Q)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321330	NM_001113525.2(ZNF276):c.*1313A>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 414831	NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 526454	NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group A +4 more	GLikely benign
Select item 526323	NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	FANCA (Q1245K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 565678	NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)	FANCA (A1215D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 419528	NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 255260	NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 134271	NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)	FANCA (R1195Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134269	NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	FANCA (R1195W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3444	NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	FANCA (R1187fs)	Duplication (frameshift variant)	Fanconi anemia +3 more	GPathogenic
Select item 642961	NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)	FANCA (R1184W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134270	NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)	FANCA (V1180M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 134268	NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)	FANCA (P1175L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +4 more	GConflicting classifications of pathogenicity
Select item 526451	NM_000135.4(FANCA):c.3514-4A>G	FANCA	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 435126	NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	FANCA (T1161M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 408171	NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	FANCA (R1144W)	Single nucleotide variant (missense variant)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 134267	NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	FANCA (L1143V)	Single nucleotide variant (missense variant)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1164137	NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 134265	NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	FANCA (L1138V)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 698322	NM_000135.4(FANCA):c.3408+9C>G	FANCA, LOC132090450	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	FANCA, LOC132090450 (T1131A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 456114	NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)	FANCA, LOC132090450 (D1129H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 321339	NM_000135.4(FANCA):c.3348+7G>T	FANCA	Single nucleotide variant (intron variant)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 321340	NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)	FANCA (V1089I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 1337313	NM_000135.4(FANCA):c.3239+11C>G	FANCA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 696565	NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 972555	NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)	FANCA (G1062R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GUncertain significance
Select item 414839	NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 408187	NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)	FANCA (S1061G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GUncertain significance
Select item 408205	NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)	FANCA (R1053C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1338565	NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)	FANCA	Deletion (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 321342	NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 576577	NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)	FANCA (R1011H)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 456107	NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)	FANCA (H1000Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 134263	NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)	FANCA (Q993K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 408197	NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)	FANCA (D990N)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GUncertain significance
Select item 639631	NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)	FANCA (I983M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376974	NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	FANCA (D953E)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 456104	NM_000135.4(FANCA):c.2856G>C (p.Gln952His)	FANCA (Q952H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 557092	NM_000135.4(FANCA):c.2853-2A>C	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 526433	NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	FANCA (R951Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 552489	NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)	FANCA	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 237043	NM_000135.4(FANCA):c.2799A>G (p.Leu933=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 555969	NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	FANCA (H913P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1337460	NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)	FANCA (T912I)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134259	NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)	FANCA (D902E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GUncertain significance
Select item 237041	NM_000135.4(FANCA):c.2602-13CT[2]	FANCA, LOC130059837	Microsatellite (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 435128	NM_000135.4(FANCA):c.2601+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 456098	NM_000135.4(FANCA):c.2589C>A (p.Gly863=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134256	NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	FANCA (S858R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +4 more	GBenign/Likely benign
Select item 556016	NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	FANCA (L845P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 1337328	NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)	FANCA (A807V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 435129	NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)	FANCA (E800*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 526333	NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	FANCA (A797V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 456095	NM_000135.4(FANCA):c.2317-8C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +4 more	GLikely benign
Select item 321348	NM_000135.4(FANCA):c.2316+9C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 1035228	NM_000135.4(FANCA):c.2309G>A (p.Arg770His)	FANCA (R770H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 435120	NM_000135.4(FANCA):c.2222+7G>A	FANCA	Single nucleotide variant (intron variant)	FANCA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 134253	NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	FANCA (P739L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 435130	NM_000135.4(FANCA):c.2151+1G>A	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GPathogenic
Select item 1127183	NM_000135.4(FANCA):c.2127G>A (p.Pro709=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 134250	NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)	FANCA (N691S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 237038	NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)	FANCA (S674L)	Single nucleotide variant (missense variant)	FANCA-related disorder +3 more	GBenign/Likely benign
Select item 1003552	NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)	FANCA (G651R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 134248	NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)	FANCA (P643R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 456090	NM_000135.4(FANCA):c.1900+7T>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +4 more	GConflicting classifications of pathogenicity
Select item 265136	NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	FANCA (C625S)	Single nucleotide variant (missense variant)	FANCA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 237037	NM_000135.4(FANCA):c.1830A>G (p.Ala610=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 210972	NM_000135.4(FANCA):c.1826+12C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 654516	NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)	FANCA (F603S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 321355	NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity

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