FANCD2OS[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 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 665653	NC_000003.12:g.(?_10052377)_(10149975_?)del	BRK1, FANCD2 +7 more	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 654670	NC_000003.11:g.(?_10094061)_(10191659_?)dup	BRK1, FANCD2 +7 more	Duplication	Chuvash polycythemia +1 more	GUncertain significance
Select item 584124	NC_000003.11:g.(?_10106403)_(10191659_?)dup	BRK1, FANCD2 +7 more	Duplication	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 526503	NC_000003.12:g.(?_10064723)_(10146642_?)del	BRK1, FANCD2 +7 more	Deletion	Fanconi anemia	GPathogenic
Select item 456559	NC_000003.12:g.(?_10064723)_(10149971_?)del	BRK1, FANCD2 +7 more	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 2768868	NM_001018115.3(FANCD2):c.3106-19A>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 3011638	NM_001018115.3(FANCD2):c.3106-15C>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2919579	NM_001018115.3(FANCD2):c.3106-15C>G	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2793726	NM_001018115.3(FANCD2):c.3106-15C>A	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2773074	NM_001018115.3(FANCD2):c.3106-14A>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2746743	NM_001018115.3(FANCD2):c.3106-14A>G	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2898679	NM_001018115.3(FANCD2):c.3106-13T>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1513581	NM_001018115.3(FANCD2):c.3106-13T>G	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
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 1057124	NM_001018115.3(FANCD2):c.3106T>A (p.Cys1036Ser)	FANCD2, FANCD2OS (C1036S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2848266	NM_001018115.3(FANCD2):c.3108T>C (p.Cys1036=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1118340	NM_001018115.3(FANCD2):c.3126C>T (p.His1042=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +1 more	GLikely benign
Select item 948989	NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser)	FANCD2OS, FANCD2 (G1043S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1001657	NM_001018115.3(FANCD2):c.3139G>A (p.Gly1047Arg)	FANCD2, FANCD2OS (G1010R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 844211	NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu)	FANCD2, FANCD2OS (V1050E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 1692046	NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu)	FANCD2, FANCD2OS (K1014E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2191506	NM_001018115.3(FANCD2):c.3155T>A (p.Val1052Asp)	FANCD2, FANCD2OS (V1052D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2191507	NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)	FANCD2, FANCD2OS (Q1016fs +1 more)	Insertion (3 prime UTR variant +1 more)	Fanconi anemia	GPathogenic
Select item 435146	NM_001018115.3(FANCD2):c.3163T>C (p.Tyr1055His)	FANCD2, FANCD2OS (Y1055H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 456355	NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=)	FANCD2OS, FANCD2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +2 more	GLikely benign
Select item 2037660	NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)	FANCD2, FANCD2OS (I1020V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 3092795	NM_001018115.3(FANCD2):c.3172A>G (p.Met1058Val)	FANCD2, FANCD2OS (M1021V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1006149	NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg)	FANCD2, FANCD2OS (C1024R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1457282	NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs)	FANCD2, FANCD2OS (Q1063fs +1 more)	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GPathogenic
Select item 1644884	NM_001018115.3(FANCD2):c.3193C>T (p.Leu1065=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2791952	NM_001018115.3(FANCD2):c.3195G>A (p.Leu1065=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2717885	NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)	FANCD2, FANCD2OS (L1029P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1337194	NM_001018115.3(FANCD2):c.3200A>G (p.Gln1067Arg)	FANCD2, FANCD2OS (Q1030R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2087950	NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)	FANCD2, FANCD2OS (Q1030H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
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 2051956	NM_001018115.3(FANCD2):c.3208C>T (p.His1070Tyr)	FANCD2, FANCD2OS (H1070Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 838214	NM_001018115.3(FANCD2):c.3208C>G (p.His1070Asp)	FANCD2, FANCD2OS (H1070D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1714414	NM_001018115.3(FANCD2):c.3209A>C (p.His1070Pro)	FANCD2, FANCD2OS (H1033P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	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 +1 more	GUncertain significance
Select item 456356	NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu)	FANCD2, FANCD2OS (H1070L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 812895	NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs)	FANCD2, FANCD2OS (F1073fs +1 more)	Deletion (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1337967	NM_001018115.3(FANCD2):c.3221C>A (p.Ala1074Asp)	FANCD2, FANCD2OS (A1037D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1464728	NM_001018115.3(FANCD2):c.3222T>C (p.Ala1074=)	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2744051	NM_001018115.3(FANCD2):c.3224+1G>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 809378	NM_001018115.3(FANCD2):c.3224+1G>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +2 more	GLikely pathogenic
Select item 2898285	NM_001018115.3(FANCD2):c.3224+7A>G	FANCD2OS, FANCD2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2872805	NM_001018115.3(FANCD2):c.3224+8T>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1020720	NM_001018115.3(FANCD2):c.3224+8T>A	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 2888464	NM_001018115.3(FANCD2):c.3224+10T>C	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 2766750	NM_001018115.3(FANCD2):c.3224+11G>A	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1648946	NM_001018115.3(FANCD2):c.3224+13G>C	FANCD2OS, FANCD2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 1215655	NM_001018115.3(FANCD2):c.3225-78T>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887988	NM_001018115.3(FANCD2):c.3225-17T>C	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2906773	NM_001018115.3(FANCD2):c.3225-16A>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2792519	NM_001018115.3(FANCD2):c.3225-14C>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1535116	NM_001018115.3(FANCD2):c.3225-13T>C	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2901920	NM_001018115.3(FANCD2):c.3225-10A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 584211	NC_000003.11:g.(?_10127486)_(10140644_?)dup	FANCD2, FANCD2OS	Duplication	Fanconi anemia	GUncertain significance
Select item 3013309	NM_001018115.3(FANCD2):c.3225-9C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2703570	NM_001018115.3(FANCD2):c.3225-6_3225-3del	FANCD2, FANCD2OS	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2983569	NM_001018115.3(FANCD2):c.3225-4T>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
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 1400313	NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly)	FANCD2, FANCD2OS (S1076G +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 2271291	NM_001018115.3(FANCD2):c.3235T>A (p.Ser1079Thr)	FANCD2, FANCD2OS (S1042T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1144963	NM_001018115.3(FANCD2):c.3240A>G (p.Gln1080=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2864269	NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)	FANCD2OS, FANCD2 (P1044fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 3377772	NM_001018115.3(FANCD2):c.3242C>T (p.Pro1081Leu)	FANCD2, FANCD2OS (P1044L +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GUncertain significance
Select item 962389	NM_001018115.3(FANCD2):c.3248A>G (p.Asn1083Ser)	FANCD2, FANCD2OS (N1046S +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2738192	NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)	FANCD2, FANCD2OS (Q1084* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia	GPathogenic
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 2916538	NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2028932	NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)	FANCD2, FANCD2OS (L1054fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia	GPathogenic
Select item 2069053	NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)	FANCD2, FANCD2OS (H1092Y +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1124931	NM_001018115.3(FANCD2):c.3276T>C (p.His1092=)	FANCD2OS, FANCD2	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2687863	NM_001018115.3(FANCD2):c.3278T>A (p.Val1093Asp)	FANCD2, FANCD2OS (V1056D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer	GLikely benign
Select item 2964225	NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)	FANCD2OS, FANCD2	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1692047	NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GConflicting classifications of pathogenicity

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