ClinVar for Gene (Select 55120) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 761

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332325	NM_006296.7(VRK2):c.1312A>G (p.Ser438Gly)	FANCL, VRK2 (S320G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332324	NM_006296.7(VRK2):c.1442A>C (p.Glu481Ala)	FANCL, VRK2 (E458A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332323	NM_006296.7(VRK2):c.1418C>T (p.Thr473Ile)	FANCL, VRK2 (T355I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332321	NM_006296.7(VRK2):c.1321A>G (p.Ile441Val)	FANCL, VRK2 (I441V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332320	NM_006296.7(VRK2):c.1327A>C (p.Lys443Gln)	FANCL, VRK2 (K325Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3277679	NM_018062.4(FANCL):c.871G>A (p.Asp291Asn)	FANCL (D296N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277676	NM_018062.4(FANCL):c.17C>T (p.Ala6Val)	FANCL (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258004	NM_018062.4(FANCL):c.776-1G>A	FANCL	Single nucleotide variant (splice acceptor variant)	Neoplasm	OLikely oncogenic
Select item 3247132	NC_000002.11:g.(?_58386900)_(58459257_?)dup	FANCL, VRK2	Duplication	Fanconi anemia	GUncertain significance
Select item 3247131	NC_000002.11:g.(?_58386900)_(58393029_?)del	FANCL, VRK2	Deletion	Fanconi anemia	GLikely pathogenic
Select item 3247130	NC_000002.11:g.(?_58449057)_(58453929_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247129	NC_000002.11:g.(?_58386900)_(58453929_?)del	FANCL, VRK2	Deletion	Fanconi anemia	GPathogenic
Select item 3247128	NC_000002.11:g.(?_58431245)_(58468448_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247126	NC_000002.11:g.(?_58449057)_(58468448_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247125	NC_000002.11:g.(?_58431245)_(58433394_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3247124	NC_000002.11:g.(?_58456939)_(58457019_?)del	FANCL	Deletion	Fanconi anemia	GPathogenic
Select item 3241617	NM_018062.4(FANCL):c.1064dup (p.Phe356fs)	FANCL (F356fs +3 more)	Duplication (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241616	NM_018062.4(FANCL):c.1092+1G>T	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241615	NM_018062.4(FANCL):c.328_335dup (p.Leu114fs)	FANCL (L114fs)	Duplication (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241614	NM_018062.4(FANCL):c.442del (p.His148fs)	FANCL (H148fs)	Deletion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3241613	NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)	FANCL (E340fs +3 more)	Insertion (frameshift variant)	Fanconi anemia complementation group L	GLikely pathogenic
Select item 3189071	NM_006296.7(VRK2):c.1515A>T (p.Leu505Phe)	FANCL, VRK2 (L482F +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3189070	NM_006296.7(VRK2):c.1214A>T (p.Glu405Val)	FANCL, VRK2 (E382V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092829	NM_018062.4(FANCL):c.964C>G (p.Gln322Glu)	FANCL (Q342E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092827	NM_018062.4(FANCL):c.844C>G (p.Gln282Glu)	FANCL (Q302E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092826	NM_018062.4(FANCL):c.28C>A (p.Arg10Ser)	FANCL (R10S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062595	GRCh37/hg19 2p16.1(chr2:58462488-58543884)x1	FANCL	Copy number loss	not specified	GUncertain significance
Select item 3022762	NM_018062.4(FANCL):c.374+7C>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021620	NM_018062.4(FANCL):c.156-13A>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3020199	NM_018062.4(FANCL):c.282C>T (p.Ala94=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017502	NM_018062.4(FANCL):c.390T>C (p.Asp130=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017383	NM_018062.4(FANCL):c.363T>C (p.Leu121=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3013607	NM_018062.4(FANCL):c.904-14T>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3013444	NM_018062.4(FANCL):c.96+8C>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3008330	NM_018062.4(FANCL):c.96+18G>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3006725	NM_018062.4(FANCL):c.96+15G>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3006556	NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)	FANCL (L16R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3005129	NM_018062.4(FANCL):c.692-18A>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3002604	NM_018062.4(FANCL):c.429T>C (p.Ala143=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2992930	NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)	FANCL (E221* +3 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2988662	NM_018062.4(FANCL):c.333C>T (p.Tyr111=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2982183	NM_018062.4(FANCL):c.13del (p.Glu5fs)	FANCL (E5fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2981540	NM_018062.4(FANCL):c.273+7A>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2980536	NM_018062.4(FANCL):c.97-14A>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2977401	NM_018062.4(FANCL):c.202C>A (p.Arg68=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2971108	NM_018062.4(FANCL):c.663G>C (p.Arg221=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2969514	NM_018062.4(FANCL):c.1021-18_1021-15dup	FANCL	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 2964129	NM_018062.4(FANCL):c.27G>A (p.Leu9=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2963243	NM_018062.4(FANCL):c.472-5A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2962682	NM_018062.4(FANCL):c.46C>T (p.Leu16=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2961311	NM_018062.4(FANCL):c.726C>A (p.Pro242=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2919468	NM_018062.4(FANCL):c.155+19A>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2919107	NM_018062.4(FANCL):c.775+6A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2917940	NM_018062.4(FANCL):c.822-12C>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2917650	NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)	FANCL (K213N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2916550	NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)	FANCL (T246A +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2915093	NM_018062.4(FANCL):c.136T>G (p.Leu46Val)	FANCL (L46V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2914508	NM_018062.4(FANCL):c.472-18G>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2914391	NM_018062.4(FANCL):c.312A>G (p.Leu104=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2913978	NM_018062.4(FANCL):c.936T>G (p.Ala312=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2912416	NM_018062.4(FANCL):c.1020+8dup	FANCL	Duplication (intron variant)	Fanconi anemia	GBenign
Select item 2912345	NM_018062.4(FANCL):c.693T>C (p.Gly231=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2912190	NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2911005	NM_018062.4(FANCL):c.903+1G>T	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 2909899	NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)	FANCL (Q11*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2909741	NM_018062.4(FANCL):c.1092+18C>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2909569	NM_018062.4(FANCL):c.1020+20T>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2908948	NM_018062.4(FANCL):c.375-16C>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2906694	NM_018062.4(FANCL):c.541-15T>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2906477	NM_018062.4(FANCL):c.612G>A (p.Met204Ile)	FANCL (M224I +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2905054	NM_018062.4(FANCL):c.156-13A>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2904473	NM_018062.4(FANCL):c.472-6T>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2903123	NM_018062.4(FANCL):c.234T>C (p.Pro78=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2897369	NM_018062.4(FANCL):c.96+12G>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2897269	NM_018062.4(FANCL):c.692-15C>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2896923	NM_018062.4(FANCL):c.378del (p.Val127fs)	FANCL (V127fs)	Deletion (frameshift variant)	Fanconi anemia complementation group L +1 more	GPathogenic/Likely pathogenic
Select item 2894751	NM_018062.4(FANCL):c.318T>C (p.Pro106=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2892533	NM_018062.4(FANCL):c.375-19A>C	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2890579	NM_018062.4(FANCL):c.974A>T (p.Asp325Val)	FANCL (D340V +3 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2890163	NM_018062.4(FANCL):c.775+10C>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2888111	NM_018062.4(FANCL):c.216+17A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2886163	NM_018062.4(FANCL):c.801G>A (p.Leu267=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GUncertain significance
Select item 2884867	NM_018062.4(FANCL):c.834T>C (p.Asn278=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2884517	NM_018062.4(FANCL):c.24G>T (p.Leu8=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2883740	NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)	FANCL (S21*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2883646	NM_018062.4(FANCL):c.97-13A>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2882702	NM_018062.4(FANCL):c.663G>T (p.Arg221=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2882522	NM_018062.4(FANCL):c.97-14A>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2880441	NM_018062.4(FANCL):c.96+14G>A	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2880098	NM_018062.4(FANCL):c.775+2T>C	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 2874758	NM_018062.4(FANCL):c.822-13C>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2874653	NM_018062.4(FANCL):c.156-16C>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2872904	NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)	FANCL (Q109*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2872777	NM_018062.4(FANCL):c.1021-16C>G	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2872020	NM_018062.4(FANCL):c.821+1G>A	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 2869432	NM_018062.4(FANCL):c.540+16G>T	FANCL	Single nucleotide variant (intron variant +1 more)	Fanconi anemia	GLikely benign
Select item 2867605	NM_018062.4(FANCL):c.541-14C>T	FANCL	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2867296	NM_018062.4(FANCL):c.309A>G (p.Ala103=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2866569	NM_018062.4(FANCL):c.96+2T>C	FANCL	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 2861125	NM_018062.4(FANCL):c.450C>A (p.Ile150=)	FANCL	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign

<< First< Prev

Page of 8