FAM120AOS[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 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)	Hyperactive airways +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	NM_198841.4(FAM120AOS):c.563+769C>A	FAM120A, FAM120AOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1241520	NM_198841.4(FAM120AOS):c.563+608G>A	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 2553974	NM_014612.5(FAM120A):c.303G>T (p.Glu101Asp)	FAM120A, FAM120AOS (E101D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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_198841.4(FAM120AOS):c.129T>C (p.Ala43=)	FAM120A, FAM120AOS	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1178731	NM_198841.4(FAM120AOS):c.64C>T (p.Leu22Phe)	FAM120A, FAM120AOS (L22F)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +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	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	GABBR2, TRIM14 +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	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +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)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 53