FAM120AOS[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 2601849	NM_198841.4(FAM120AOS):c.766A>G (p.Ile256Val)	FAM120AOS (I74V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 183343	NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)	FAM120AOS (T248I +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa +8 more	GLikely pathogenic
Select item 3091742	NM_198841.4(FAM120AOS):c.673C>A (p.Pro225Thr)	FAM120AOS (P43T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339243	NM_198841.4(FAM120AOS):c.643C>A (p.His215Asn)	FAM120AOS (H215N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540557	NM_198841.4(FAM120AOS):c.637C>T (p.His213Tyr)	FAM120AOS (H31Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091740	NM_198841.4(FAM120AOS):c.593G>T (p.Arg198Leu)	FAM120AOS (R16L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236169	NM_198841.4(FAM120AOS):c.589A>C (p.Asn197His)	FAM120AOS (N15H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1180290	NC_000009.12:g.93451378G>T	FAM120A, FAM120AOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1241520	NC_000009.12:g.93451539C>T	FAM120A, FAM120AOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2533054	NM_014612.5(FAM120A):c.107G>A (p.Arg36Gln)	FAM120A, FAM120AOS +1 more (R36Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311680	NM_014612.5(FAM120A):c.113G>A (p.Arg38Gln)	FAM120A, FAM120AOS +1 more (R38Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277123	NM_198841.4(FAM120AOS):c.498C>G (p.Ser166Arg)	FAM120A, FAM120AOS (S166R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553974	NM_198841.4(FAM120AOS):c.492C>A (p.Phe164Leu)	FAM120A, FAM120AOS (E101D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277122	NM_198841.4(FAM120AOS):c.468G>C (p.Leu156Phe)	FAM120A, FAM120AOS (L156F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277121	NM_198841.4(FAM120AOS):c.462C>G (p.Cys154Trp)	FAM120A, FAM120AOS (C154W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277120	NM_198841.4(FAM120AOS):c.393T>G (p.Phe131Leu)	FAM120A, FAM120AOS (F131L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2272483	NM_198841.4(FAM120AOS):c.305G>A (p.Arg102Gln)	FAM120A, FAM120AOS +1 more (R102Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091739	NM_198841.4(FAM120AOS):c.304C>G (p.Arg102Gly)	FAM120A, FAM120AOS +1 more (R102G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 733835	NM_198841.4(FAM120AOS):c.270del (p.Ile90fs)	FAM120A, FAM120AOS +1 more (I90fs)	Deletion (frameshift variant +2 more)	not provided	GLikely benign
Select item 2615854	NM_198841.4(FAM120AOS):c.194G>A (p.Arg65Gln)	FAM120A, FAM120AOS +1 more (R65Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277119	NM_198841.4(FAM120AOS):c.190T>C (p.Ser64Pro)	FAM120A, FAM120AOS +1 more (S64P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091738	NM_198841.4(FAM120AOS):c.163A>G (p.Ile55Val)	FAM120A, FAM120AOS +1 more (I55V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357522	NM_198841.4(FAM120AOS):c.132G>C (p.Trp44Cys)	FAM120A, FAM120AOS (W44C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1239120	NM_014612.5(FAM120A):c.474+192A>G	FAM120A, FAM120AOS	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1178731	NM_014612.5(FAM120A):c.474+257G>A	FAM120A, FAM120AOS (L22F)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3277118	NM_198841.4(FAM120AOS):c.20T>C (p.Ile7Thr)	FAM120A, FAM120AOS (I7T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 873324	Single allele	BARX1, FAM120A +11 more	Duplication	Delayed gross motor development +5 more	GLikely pathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 563667	GRCh37/hg19 9q22.31(chr9:94907633-96493970)x1	ASPN, BICD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 59