"Invitae"[submitter] AND "FANCD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584150	NC_000003.12:g.(?_10028648)_(10046733_?)del	FANCD2, LOC107303338	Deletion	Fanconi anemia	GPathogenic
Select item 583633	NC_000003.12:g.(?_10028648)_(10043874_?)del	FANCD2, LOC107303338	Deletion	Fanconi anemia	GPathogenic
Select item 3014862	NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 575540	NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)	FANCD2 (S10P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 342254	NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)	FANCD2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 998267	NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)	FANCD2 (D12V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 2982057	NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)	FANCD2 (K13fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 1042387	NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg)	FANCD2 (K13R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2113951	NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)	FANCD2 (S15T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2742252	NM_001018115.3(FANCD2):c.45C>T (p.Ser15=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 840822	NM_001018115.3(FANCD2):c.58G>A (p.Ala20Thr)	FANCD2 (A20T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2962611	NM_001018115.3(FANCD2):c.60C>T (p.Ala20=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2056253	NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)	FANCD2 (S21C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1067913	NM_001018115.3(FANCD2):c.64+1_64+2del	FANCD2	Deletion (splice donor variant)	Fanconi anemia	GLikely pathogenic
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 2819260	NM_001018115.3(FANCD2):c.64+8_64+11del	FANCD2	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2966767	NM_001018115.3(FANCD2):c.64+7A>G	FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2173968	NM_001018115.3(FANCD2):c.64+8T>C	FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2697872	NM_001018115.3(FANCD2):c.64+10T>G	FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 257085	NM_001018115.3(FANCD2):c.64+12G>C	FANCD2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 2192778	NM_001018115.3(FANCD2):c.65-20G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1659884	NM_001018115.3(FANCD2):c.65-18A>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2721402	NM_001018115.3(FANCD2):c.65-17A>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2897018	NM_001018115.3(FANCD2):c.65-8A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 970247	NM_001018115.3(FANCD2):c.65-3C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2907966	NM_001018115.3(FANCD2):c.65-1G>T	LOC107303338, FANCD2	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 2719186	NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)	FANCD2, LOC107303338 (K25R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2742088	NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)	FANCD2, LOC107303338 (Q26P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 456361	NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)	FANCD2, LOC107303338 (Q26H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2722177	NM_001018115.3(FANCD2):c.81A>G (p.Pro27=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2982217	NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)	FANCD2, LOC107303338 (K34fs)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 1714804	NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)	FANCD2, LOC107303338 (T32I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1322879	NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)	FANCD2, LOC107303338 (K33fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 1376881	NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu)	FANCD2, LOC107303338 (K34E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1052041	NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)	FANCD2, LOC107303338 (S35P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1414004	NM_001018115.3(FANCD2):c.107A>G (p.His36Arg)	FANCD2, LOC107303338 (H36R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2744805	NM_001018115.3(FANCD2):c.111T>C (p.Ile37=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 851534	NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys)	FANCD2, LOC107303338 (E40K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1059288	NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala)	LOC107303338, FANCD2 (V41A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 2171356	NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)	FANCD2, LOC107303338 (E42G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2161141	NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)	LOC107303338, FANCD2 (I47V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1900227	NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)	FANCD2, LOC107303338 (I47M)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1090034	NM_001018115.3(FANCD2):c.144T>C (p.Phe48=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 939473	NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu)	FANCD2, LOC107303338 (F48L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 567161	NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly)	FANCD2, LOC107303338 (V49G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2699554	NM_001018115.3(FANCD2):c.150G>A (p.Lys50=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1692035	NM_001018115.3(FANCD2):c.165A>G (p.Ser55=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 456347	NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val)	FANCD2, LOC107303338 (I58V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2754801	NM_001018115.3(FANCD2):c.174T>A (p.Ile58=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3006197	NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 456349	NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	FANCD2, LOC107303338 (T61M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1692036	NM_001018115.3(FANCD2):c.183G>T (p.Thr61=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 414650	NM_001018115.3(FANCD2):c.183G>A (p.Thr61=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2970103	NM_001018115.3(FANCD2):c.186A>G (p.Gly62=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1719215	NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)	FANCD2, LOC107303338 (E63K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 961904	NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs)	FANCD2, LOC107303338 (S64fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 134319	NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)	FANCD2, LOC107303338 (Q65H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 2716227	NM_001018115.3(FANCD2):c.202C>T (p.Leu68=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1486216	NM_001018115.3(FANCD2):c.205+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 2859254	NM_001018115.3(FANCD2):c.205+4_205+6del	FANCD2, LOC107303338	Deletion (splice donor variant)	Fanconi anemia	GUncertain significance
Select item 414653	NM_001018115.3(FANCD2):c.205+9T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +2 more	GBenign
Select item 2974005	NM_001018115.3(FANCD2):c.205+16A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1679032	NM_001018115.3(FANCD2):c.206-20C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GLikely benign
Select item 2874231	NM_001018115.3(FANCD2):c.206-18C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2865599	NM_001018115.3(FANCD2):c.206-15C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2909968	NM_001018115.3(FANCD2):c.206-14T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2154976	NM_001018115.3(FANCD2):c.206-9T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1606527	NM_001018115.3(FANCD2):c.206-6G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2730854	NM_001018115.3(FANCD2):c.206-5C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2909034	NM_001018115.3(FANCD2):c.206-4A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2902984	NM_001018115.3(FANCD2):c.216A>G (p.Gln72=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1506046	NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met)	FANCD2, LOC107303338 (I73M)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1911120	NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)	FANCD2, LOC107303338 (A74V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1322877	NM_001018115.3(FANCD2):c.230del (p.Lys77fs)	FANCD2, LOC107303338 (K77fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1454740	NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)	FANCD2, LOC107303338 (L79fs)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2916152	NM_001018115.3(FANCD2):c.237C>G (p.Leu79=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 970951	NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile)	FANCD2, LOC107303338 (T82I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 435142	NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1078539	NM_001018115.3(FANCD2):c.249G>C (p.Leu83=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1424575	NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys)	FANCD2, LOC107303338 (R84K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1416079	NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)	FANCD2, LOC107303338 (H86Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1985352	NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)	FANCD2, LOC107303338 (P87A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2904306	NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)	FANCD2, LOC107303338 (K91E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1166643	NM_001018115.3(FANCD2):c.273+12del	FANCD2, LOC107303338	Deletion (intron variant)	Fanconi anemia	GBenign
Select item 1622546	NM_001018115.3(FANCD2):c.273+14C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1972754	NM_001018115.3(FANCD2):c.273+15C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2859477	NM_001018115.3(FANCD2):c.274-14del	FANCD2, LOC107303338	Deletion (intron variant)	Fanconi anemia	GBenign
Select item 2786131	NM_001018115.3(FANCD2):c.274-11del	FANCD2, LOC107303338	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 3005169	NM_001018115.3(FANCD2):c.274-9C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2972410	NM_001018115.3(FANCD2):c.274-9C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2732612	NM_001018115.3(FANCD2):c.274-6C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1104233	NM_001018115.3(FANCD2):c.274-6_274-4del	FANCD2, LOC107303338	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2120294	NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)	FANCD2, LOC107303338 (I93T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 567360	NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met)	FANCD2, LOC107303338 (I93M)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2760249	NM_001018115.3(FANCD2):c.280del (p.Glu94fs)	FANCD2, LOC107303338 (E94fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2891102	NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)	FANCD2, LOC107303338 (E95*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2042700	NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)	FANCD2, LOC107303338 (E95D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2732749	NM_001018115.3(FANCD2):c.288T>C (p.Phe96=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 850071	NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile)	FANCD2, LOC107303338 (V97I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2975205	NM_001018115.3(FANCD2):c.294T>C (p.Ser98=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign

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