FANCD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1296735	NM_001018115.3(FANCD2):c.-34+271_-34+280del	FANCD2	Deletion (intron variant)	not provided	GBenign
Select item 342252	NM_001018115.3(FANCD2):c.-33-13G>A	FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2	GUncertain significance
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 342253	NM_001018115.3(FANCD2):c.-6G>C	FANCD2	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 929652	NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)	FANCD2 (M1T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	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 2288730	NM_001018115.3(FANCD2):c.20T>A (p.Leu7Gln)	FANCD2 (L7Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 575540	NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)	FANCD2 (S10P)	Single nucleotide variant (missense variant)	Fanconi anemia +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 812894	NM_001018115.3(FANCD2):c.39dup (p.Glu14fs)	FANCD2 (E14fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
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 complementation group D2 +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)	Fanconi anemia complementation group D2 +4 more	GBenign
Select item 1216094	NM_001018115.3(FANCD2):c.64+147G>C	FANCD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289280	NM_001018115.3(FANCD2):c.65-263T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235759	NM_001018115.3(FANCD2):c.65-174TTTG[3]	FANCD2, LOC107303338	Microsatellite (intron variant)	not provided	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 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 2907966	NM_001018115.3(FANCD2):c.65-1G>T	LOC107303338, FANCD2	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 1692057	NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly)	FANCD2, LOC107303338 (R24G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
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)	Fanconi anemia complementation group D2 +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 1324378	NM_001018115.3(FANCD2):c.92del (p.Lys31fs)	FANCD2, LOC107303338 (K31fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2555313	NM_001018115.3(FANCD2):c.89A>G (p.Lys30Arg)	FANCD2, LOC107303338 (K30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	FANCD2, LOC107303338 (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 complementation group D2 +1 more	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 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 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 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 134319	NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)	FANCD2, LOC107303338 (Q65H)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +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

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