2189[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 366728	NM_004629.2(FANCG):c.*250C>T	FANCG	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 913091	NM_004629.2(FANCG):c.*141A>G	FANCG	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 366729	NM_004629.2(FANCG):c.*101A>G	FANCG	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 913092	NM_004629.2(FANCG):c.*77C>T	FANCG	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 3051727	NM_004629.2(FANCG):c.*7C>T	FANCG	Single nucleotide variant (3 prime UTR variant)	FANCG-related disorder	GLikely benign
Select item 456066	Single allele	FANCG	Duplication	Fanconi anemia	GUncertain significance
Select item 1337537	NM_004629.2(FANCG):c.1865T>C (p.Leu622Pro)	FANCG (L622P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1900091	NM_004629.2(FANCG):c.1864C>T (p.Leu622=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2845881	NM_004629.2(FANCG):c.1863C>T (p.Asp621=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 134362	NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)	FANCG (K618fs)	Deletion (frameshift variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1648378	NM_004629.2(FANCG):c.1851A>G (p.Pro617=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2709203	NM_004629.2(FANCG):c.1846C>T (p.Leu616=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1316114	NM_004629.2(FANCG):c.1838G>A (p.Arg613Gln)	FANCG (R613Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178462	NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)	FANCG (R613W)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2190253	NM_004629.2(FANCG):c.1825del (p.Glu610fs)	FANCG (E610fs)	Deletion (frameshift variant)	Fanconi anemia	GUncertain significance
Select item 2896169	NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)	FANCG (A607D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1545908	NM_004629.2(FANCG):c.1818C>T (p.Asp606=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 698225	NM_004629.2(FANCG):c.1815T>C (p.Arg605=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 571312	NM_004629.2(FANCG):c.1814G>A (p.Arg605His)	FANCG (R605H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1710966	NM_004629.2(FANCG):c.1813C>T (p.Arg605Cys)	FANCG (R605C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 2107224	NM_004629.2(FANCG):c.1810G>C (p.Asp604His)	FANCG (D604H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 366730	NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)	FANCG (S603F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 526450	NM_004629.2(FANCG):c.1806C>T (p.Pro602=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 950268	NM_004629.2(FANCG):c.1805C>A (p.Pro602His)	FANCG (P602H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2160492	NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)	FANCG (P602S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 6718	NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)	FANCG (W599fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 666016	NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)	FANCG (R601C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 1077892	NM_004629.2(FANCG):c.1800C>T (p.Ile600=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2627203	NM_004629.2(FANCG):c.1795del (p.Trp599fs)	FANCG (W599fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2040953	NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)	FANCG (S598R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 1957254	NM_004629.2(FANCG):c.1793G>A (p.Ser598Asn)	FANCG (S598N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2731534	NM_004629.2(FANCG):c.1785C>G (p.Ser595Arg)	FANCG (S595R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2161158	NM_004629.2(FANCG):c.1782A>C (p.Glu594Asp)	FANCG (E594D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1104165	NM_004629.2(FANCG):c.1779A>G (p.Leu593=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 991660	NM_004629.2(FANCG):c.1777C>T (p.Leu593=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 456232	NM_004629.2(FANCG):c.1774T>C (p.Tyr592His)	FANCG (Y592H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3075917	NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)	FANCG (L591fs)	Deletion (frameshift variant)	Fanconi anemia	GLikely pathogenic
Select item 2136764	NM_004629.2(FANCG):c.1772del (p.Leu591fs)	FANCG (L591fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G +1 more	GConflicting classifications of pathogenicity
Select item 929710	NM_004629.2(FANCG):c.1771dup (p.Leu591fs)	FANCG (L591fs)	Duplication (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 1989819	NM_004629.2(FANCG):c.1770C>A (p.Pro590=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1131446	NM_004629.2(FANCG):c.1770C>G (p.Pro590=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 639475	NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala)	FANCG (P590A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 414808	NM_004629.2(FANCG):c.1767C>T (p.Leu589=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 929709	NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe)	FANCG (S588F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GPathogenic
Select item 929708	NM_004629.2(FANCG):c.1761-1G>A	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G	GPathogenic
Select item 929707	NM_004629.2(FANCG):c.1761-1G>C	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G	GPathogenic
Select item 1324383	NM_004629.2(FANCG):c.1761-2A>C	FANCG	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 1135644	NM_004629.2(FANCG):c.1761-8C>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1125253	NM_004629.2(FANCG):c.1761-10T>C	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2809239	NM_004629.2(FANCG):c.1761-19C>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2999011	NM_004629.2(FANCG):c.1760+14C>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2738806	NM_004629.2(FANCG):c.1760+9C>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2718820	NM_004629.2(FANCG):c.1760+9C>G	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2886813	NM_004629.2(FANCG):c.1760+7C>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2063265	NM_004629.2(FANCG):c.1760+4A>T	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 1099297	NM_004629.2(FANCG):c.1758G>T (p.Leu586=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2824181	NM_004629.2(FANCG):c.1755T>C (p.Ala585=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2195980	NM_004629.2(FANCG):c.1752T>C (p.Asp584=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 929706	NM_004629.2(FANCG):c.1749del (p.Asp584fs)	FANCG (D584fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GPathogenic
Select item 188303	NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)	FANCG (E583*)	Single nucleotide variant (nonsense)	Fanconi anemia	GLikely pathogenic
Select item 939762	NM_004629.2(FANCG):c.1745A>G (p.His582Arg)	FANCG (H582R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 792213	NM_004629.2(FANCG):c.1740G>A (p.Gly580=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2142218	NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)	FANCG (A576V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1004290	NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)	FANCG (R573M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 408137	NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr)	FANCG (R573T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1664099	NM_004629.2(FANCG):c.1717A>C (p.Arg573=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 929705	NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)	FANCG (W572*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2775574	NM_004629.2(FANCG):c.1710C>G (p.Leu570=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2916575	NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)	FANCG (L570F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1136935	NM_004629.2(FANCG):c.1704T>C (p.Thr568=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 967427	NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)	FANCG (T568A)	Single nucleotide variant (missense variant)	Ovarian cancer +2 more	GConflicting classifications of pathogenicity

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