ATOSA[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 3131170	NM_001385016.1(ATOSA):c.2894A>G (p.Asn965Ser)	ATOSA (N965S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131169	NM_001385016.1(ATOSA):c.2857C>T (p.Pro953Ser)	ATOSA (P890S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327158	NM_001385016.1(ATOSA):c.2810G>A (p.Gly937Asp)	ATOSA (G874D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131168	NM_001385016.1(ATOSA):c.2605A>G (p.Ser869Gly)	ATOSA (S781G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131165	NM_001385016.1(ATOSA):c.2437G>A (p.Gly813Arg)	ATOSA (G813R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131164	NM_001385016.1(ATOSA):c.2429C>T (p.Pro810Leu)	ATOSA (P722L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590984	NM_001385016.1(ATOSA):c.2293A>G (p.Ser765Gly)	ATOSA (S677G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511809	NM_001385016.1(ATOSA):c.2291G>A (p.Arg764Lys)	ATOSA (R764K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131162	NM_001385016.1(ATOSA):c.2183A>G (p.Asn728Ser)	ATOSA (N640S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131161	NM_001385016.1(ATOSA):c.2167A>C (p.Ile723Leu)	ATOSA (I635L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131160	NM_001385016.1(ATOSA):c.2096A>G (p.Tyr699Cys)	ATOSA (Y611C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131158	NM_001385016.1(ATOSA):c.2056A>C (p.Lys686Gln)	ATOSA (K598Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131157	NM_001385016.1(ATOSA):c.1965G>C (p.Lys655Asn)	ATOSA (K567N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607766	NM_001385016.1(ATOSA):c.1947A>C (p.Lys649Asn)	ATOSA (K561N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517462	NM_001385016.1(ATOSA):c.1939A>G (p.Ile647Val)	ATOSA (I647V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614968	NM_001385016.1(ATOSA):c.1907G>A (p.Gly636Glu)	ATOSA (G636E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131155	NM_001385016.1(ATOSA):c.1887G>T (p.Lys629Asn)	ATOSA (K541N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327184	NM_001385016.1(ATOSA):c.1874C>T (p.Thr625Ile)	ATOSA (T537I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131154	NM_001385016.1(ATOSA):c.1858A>C (p.Asn620His)	ATOSA (N532H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512328	NM_001385016.1(ATOSA):c.1798G>A (p.Glu600Lys)	ATOSA (E512K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528161	NM_001385016.1(ATOSA):c.1691G>A (p.Cys564Tyr)	ATOSA (C476Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131153	NM_001385016.1(ATOSA):c.1630C>T (p.His544Tyr)	ATOSA (H456Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327116	NM_001385016.1(ATOSA):c.1589T>C (p.Leu530Ser)	ATOSA (L442S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131152	NM_001385016.1(ATOSA):c.1555A>G (p.Lys519Glu)	ATOSA (K431E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131151	NM_001385016.1(ATOSA):c.1534G>T (p.Asp512Tyr)	ATOSA (D519Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131150	NM_001385016.1(ATOSA):c.1510C>T (p.Pro504Ser)	ATOSA (P416S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131149	NM_001385016.1(ATOSA):c.1492C>A (p.Pro498Thr)	ATOSA (P410T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131148	NM_001385016.1(ATOSA):c.1471C>G (p.Gln491Glu)	ATOSA (Q491E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327176	NM_001385016.1(ATOSA):c.1399C>G (p.Pro467Ala)	ATOSA (P467A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619647	NM_001385016.1(ATOSA):c.1358G>A (p.Arg453Gln)	ATOSA (R365Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131147	NM_001385016.1(ATOSA):c.1337G>A (p.Arg446Gln)	ATOSA (R358Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131146	NM_001385016.1(ATOSA):c.1302T>G (p.Phe434Leu)	ATOSA (F441L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2475308	NM_001385016.1(ATOSA):c.1241A>C (p.Glu414Ala)	ATOSA (E414A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131145	NM_001385016.1(ATOSA):c.1123G>C (p.Ala375Pro)	ATOSA (A287P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131144	NM_001385016.1(ATOSA):c.1109G>A (p.Arg370Gln)	ATOSA (R370Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131143	NM_001385016.1(ATOSA):c.1108C>T (p.Arg370Trp)	ATOSA (R282W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131142	NM_001385016.1(ATOSA):c.1078A>G (p.Asn360Asp)	ATOSA (N360D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327168	NM_001385016.1(ATOSA):c.1060C>A (p.Gln354Lys)	ATOSA (Q354K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454772	NM_001385016.1(ATOSA):c.1050G>C (p.Gln350His)	ATOSA (Q357H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131141	NM_001385016.1(ATOSA):c.1045C>T (p.Arg349Cys)	ATOSA (R261C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131140	NM_001385016.1(ATOSA):c.1040C>G (p.Ser347Cys)	ATOSA (S259C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513165	NM_001385016.1(ATOSA):c.967A>G (p.Ile323Val)	ATOSA (I235V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131180	NM_001385016.1(ATOSA):c.895A>G (p.Lys299Glu)	ATOSA (K299E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473286	NM_001385016.1(ATOSA):c.865C>A (p.Pro289Thr)	ATOSA (P201T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131179	NM_001385016.1(ATOSA):c.796C>T (p.Arg266Cys)	ATOSA (R178C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131178	NM_001385016.1(ATOSA):c.700G>A (p.Gly234Ser)	ATOSA (G146S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327194	NM_001385016.1(ATOSA):c.692C>G (p.Thr231Ser)	ATOSA (T143S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557854	NM_001385016.1(ATOSA):c.642G>T (p.Gln214His)	ATOSA (Q221H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131177	NM_001385016.1(ATOSA):c.605A>C (p.Asn202Thr)	ATOSA (N114T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131176	NM_001385016.1(ATOSA):c.580A>G (p.Ile194Val)	ATOSA (I106V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131175	NM_001385016.1(ATOSA):c.536G>A (p.Ser179Asn)	ATOSA (S179N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131174	NM_001385016.1(ATOSA):c.422T>C (p.Ile141Thr)	ATOSA (I148T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131173	NM_001385016.1(ATOSA):c.408T>A (p.Asn136Lys)	ATOSA (N136K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590072	NM_001385016.1(ATOSA):c.401G>A (p.Arg134Gln)	ATOSA (R46Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131172	NM_001385016.1(ATOSA):c.384C>G (p.Ile128Met)	ATOSA (I40M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327126	NM_001385016.1(ATOSA):c.362C>T (p.Ala121Val)	ATOSA (A128V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131171	NM_001385016.1(ATOSA):c.307G>A (p.Asp103Asn)	ATOSA (D15N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131163	NM_001385016.1(ATOSA):c.218G>A (p.Arg73Gln)	ATOSA (R73Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131159	NM_001385016.1(ATOSA):c.205C>T (p.Arg69Cys)	ATOSA (R69C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131156	NM_001385016.1(ATOSA):c.193C>G (p.Leu65Val)	ATOSA (L65V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327147	NM_001385016.1(ATOSA):c.158A>T (p.Tyr53Phe)	ATOSA (Y53F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327136	NM_001385016.1(ATOSA):c.34T>G (p.Phe12Val)	ATOSA (F19V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684760	GRCh37/hg19 15q21.2-21.3(chr15:52774308-52998571)x3	ARPP19, ATOSA +1 more	Copy number gain	not provided	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 82