AOC2[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2486492	NM_009590.4(AOC2):c.23C>T (p.Ala8Val)	AOC2 (A8V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570186	NM_009590.4(AOC2):c.147C>A (p.His49Gln)	AOC2 (H49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247426	NM_009590.4(AOC2):c.168T>G (p.Phe56Leu)	AOC2 (F56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127368	NM_009590.4(AOC2):c.182G>A (p.Arg61Gln)	AOC2 (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477166	NM_009590.4(AOC2):c.196G>A (p.Ala66Thr)	AOC2 (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353741	NM_009590.4(AOC2):c.205C>T (p.Arg69Cys)	AOC2 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568709	NM_009590.4(AOC2):c.373C>G (p.Leu125Val)	AOC2 (L125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714859	NM_009590.4(AOC2):c.422C>T (p.Pro141Leu)	AOC2 (P141L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3127375	NM_009590.4(AOC2):c.448G>A (p.Asp150Asn)	AOC2 (D150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311497	NM_009590.4(AOC2):c.458T>G (p.Val153Gly)	AOC2 (V153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336147	NM_009590.4(AOC2):c.464G>A (p.Arg155His)	AOC2 (R155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559180	NM_009590.4(AOC2):c.472G>A (p.Gly158Arg)	AOC2 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127376	NM_009590.4(AOC2):c.491G>A (p.Arg164His)	AOC2 (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267125	NM_009590.4(AOC2):c.566T>G (p.Ile189Ser)	AOC2 (I189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271176	NM_009590.4(AOC2):c.592A>G (p.Asn198Asp)	AOC2 (N198D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127377	NM_009590.4(AOC2):c.646G>A (p.Asp216Asn)	AOC2 (D216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127379	NM_009590.4(AOC2):c.663G>T (p.Met221Ile)	AOC2 (M221I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127380	NM_009590.4(AOC2):c.674A>G (p.His225Arg)	AOC2 (H225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387865	NM_009590.4(AOC2):c.709G>A (p.Val237Met)	AOC2 (V237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224446	NM_009590.4(AOC2):c.734A>G (p.His245Arg)	AOC2 (H245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613136	NM_009590.4(AOC2):c.763G>C (p.Val255Leu)	AOC2 (V255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280330	NM_009590.4(AOC2):c.769C>G (p.Gln257Glu)	AOC2 (Q257E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402933	NM_009590.4(AOC2):c.772G>A (p.Val258Ile)	AOC2 (V258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363621	NM_009590.4(AOC2):c.817C>T (p.Arg273Trp)	AOC2 (R273W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127381	NM_009590.4(AOC2):c.836G>A (p.Arg279Gln)	AOC2 (R279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522021	NM_009590.4(AOC2):c.891G>T (p.Arg297Ser)	AOC2 (R297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300764	NM_009590.4(AOC2):c.940G>T (p.Gly314Cys)	AOC2 (G314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411722	NM_009590.4(AOC2):c.1040G>A (p.Arg347Gln)	AOC2 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459478	NM_009590.4(AOC2):c.1064A>G (p.Tyr355Cys)	AOC2 (Y355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261811	NM_009590.4(AOC2):c.1079A>G (p.Gln360Arg)	AOC2 (Q360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127358	NM_009590.4(AOC2):c.1093A>G (p.Ile365Val)	AOC2 (I365V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383353	NM_009590.4(AOC2):c.1118C>T (p.Thr373Met)	AOC2 (T373M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462994	NM_009590.4(AOC2):c.1147T>C (p.Phe383Leu)	AOC2 (F383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127359	NM_009590.4(AOC2):c.1168C>G (p.Arg390Gly)	AOC2 (R390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355909	NM_009590.4(AOC2):c.1181G>A (p.Arg394Gln)	AOC2 (R394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469640	NM_009590.4(AOC2):c.1184G>T (p.Gly395Val)	AOC2 (G395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300026	NM_009590.4(AOC2):c.1190A>G (p.Asp397Gly)	AOC2 (D397G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308321	NM_009590.4(AOC2):c.1223A>G (p.His408Arg)	AOC2 (H408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127360	NM_009590.4(AOC2):c.1308G>C (p.Arg436Ser)	AOC2 (R436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127361	NM_009590.4(AOC2):c.1337A>G (p.Tyr446Cys)	AOC2 (Y446C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535457	NM_009590.4(AOC2):c.1337A>C (p.Tyr446Ser)	AOC2 (Y446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127362	NM_009590.4(AOC2):c.1349C>T (p.Ala450Val)	AOC2 (A450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204379	NM_009590.4(AOC2):c.1361T>C (p.Leu454Pro)	AOC2 (L454P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300016	NM_009590.4(AOC2):c.1423C>G (p.Pro475Ala)	AOC2 (P475A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531279	NM_009590.4(AOC2):c.1445G>A (p.Arg482Gln)	AOC2 (R482Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127363	NM_009590.4(AOC2):c.1457C>T (p.Thr486Met)	AOC2 (T486M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324344	NM_009590.4(AOC2):c.1472C>T (p.Thr491Ile)	AOC2 (T491I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127364	NM_009590.4(AOC2):c.1528A>G (p.Arg510Gly)	AOC2 (R510G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127365	NM_009590.4(AOC2):c.1541C>T (p.Thr514Met)	AOC2 (T514M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402172	NM_009590.4(AOC2):c.1670G>A (p.Arg557His)	AOC2 (R557H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512455	NM_009590.4(AOC2):c.1685G>A (p.Arg562Gln)	AOC2 (R562Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337854	NM_009590.4(AOC2):c.1731C>A (p.Ser577Arg)	AOC2 (S577R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127366	NM_009590.4(AOC2):c.1741C>T (p.Arg581Cys)	AOC2 (R581C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373736	NM_009590.4(AOC2):c.1760G>A (p.Ser587Asn)	AOC2 (S587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280701	NM_009590.4(AOC2):c.1774G>A (p.Ala592Thr)	AOC2 (A592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127367	NM_009590.4(AOC2):c.1790G>A (p.Arg597His)	AOC2 (R597H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781367	NM_009590.4(AOC2):c.1791C>T (p.Arg597=)	AOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2343343	NM_009590.4(AOC2):c.1811A>C (p.His604Pro)	AOC2 (H604P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540942	NM_009590.4(AOC2):c.1825A>C (p.Ile609Leu)	AOC2 (I609L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322890	NM_009590.4(AOC2):c.1847A>T (p.Asp616Val)	AOC2 (D616V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127369	NM_009590.4(AOC2):c.1999G>A (p.Gly667Arg)	AOC2 (G667R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127371	NM_009590.4(AOC2):c.2068A>G (p.Thr690Ala)	AOC2 (T690A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127372	NM_009590.4(AOC2):c.2093G>C (p.Gly698Ala)	AOC2 (G671A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309064	NM_009590.4(AOC2):c.2097C>A (p.Phe699Leu)	AOC2 (F672L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508721	NM_009590.4(AOC2):c.2101C>G (p.Leu701Val)	AOC2 (L701V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127373	NM_009590.4(AOC2):c.2111A>G (p.Tyr704Cys)	AOC2 (Y677C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127374	NM_009590.4(AOC2):c.2122G>A (p.Asp708Asn)	AOC2 (D681N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348982	NM_009590.4(AOC2):c.2195T>C (p.Ile732Thr)	AOC2 (I705T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386046	NM_009590.4(AOC2):c.2237C>T (p.Pro746Leu)	AOC2 (P719L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510803	NM_009590.4(AOC2):c.2263G>A (p.Gly755Ser)	AOC2 (G755S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 76