550[HGNC] - ClinVar

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Items: 73

	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 2470727	NM_003734.4(AOC3):c.40G>A (p.Val14Ile)	AOC3 (V14I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358016	NM_003734.4(AOC3):c.111G>C (p.Gln37His)	AOC3 (Q37H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358684	NM_003734.4(AOC3):c.119A>G (p.His40Arg)	AOC3 (H40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614903	NM_003734.4(AOC3):c.217C>T (p.Arg73Cys)	AOC3 (R73C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2384035	NM_003734.4(AOC3):c.232C>T (p.Arg78Trp)	AOC3 (R78W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214074	NM_003734.4(AOC3):c.233G>A (p.Arg78Gln)	AOC3 (R78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2524978	NM_003734.4(AOC3):c.236T>G (p.Leu79Arg)	AOC3 (L79R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 754739	NM_003734.4(AOC3):c.381C>T (p.Ile127=)	AOC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2339751	NM_003734.4(AOC3):c.412G>C (p.Val138Leu)	AOC3 (V138L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386991	NM_003734.4(AOC3):c.476G>T (p.Arg159Leu)	AOC3 (R159L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323644	NM_003734.4(AOC3):c.608A>G (p.His203Arg)	AOC3 (H203R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569810	NM_003734.4(AOC3):c.638C>T (p.Thr213Met)	AOC3 (T213M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528357	NM_003734.4(AOC3):c.664G>A (p.Asp222Asn)	AOC3 (D222N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127393	NM_003734.4(AOC3):c.721C>T (p.His241Tyr)	AOC3 (H241Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127394	NM_003734.4(AOC3):c.773G>A (p.Arg258His)	AOC3 (R258H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300064	NM_003734.4(AOC3):c.789G>T (p.Lys263Asn)	AOC3 (K263N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240189	NM_003734.4(AOC3):c.805C>T (p.Arg269Cys)	AOC3 (R269C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781368	NM_003734.4(AOC3):c.813C>T (p.Tyr271=)	AOC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302368	NM_003734.4(AOC3):c.872T>C (p.Ile291Thr)	AOC3 (I291T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596054	NM_003734.4(AOC3):c.889G>A (p.Gly297Ser)	AOC3 (G297S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259040	NM_003734.4(AOC3):c.889G>T (p.Gly297Cys)	AOC3 (G297C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127395	NM_003734.4(AOC3):c.919C>T (p.Pro307Ser)	AOC3 (P307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127396	NM_003734.4(AOC3):c.965G>A (p.Arg322His)	AOC3 (R322H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717753	NM_003734.4(AOC3):c.986G>A (p.Arg329Gln)	AOC3 (R329Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3300106	NM_003734.4(AOC3):c.1030T>C (p.Phe344Leu)	AOC3 (F344L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248434	NM_003734.4(AOC3):c.1033A>G (p.Ser345Gly)	AOC3 (S345G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727877	NM_003734.4(AOC3):c.1057C>G (p.Arg353Gly)	AOC3 (R353G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2313360	NM_003734.4(AOC3):c.1091G>A (p.Ser364Asn)	AOC3 (S364N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777180	NM_003734.4(AOC3):c.1112T>C (p.Ile371Thr)	AOC3 (I371T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2517580	NM_003734.4(AOC3):c.1138A>G (p.Met380Val)	AOC3 (M380V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406509	NM_003734.4(AOC3):c.1142C>T (p.Thr381Met)	AOC3 (T381M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3127382	NM_003734.4(AOC3):c.1150T>C (p.Tyr384His)	AOC3 (Y384H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300073	NM_003734.4(AOC3):c.1151A>C (p.Tyr384Ser)	AOC3 (Y384S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491899	NM_003734.4(AOC3):c.1171A>G (p.Met391Val)	AOC3 (M391V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348983	NM_003734.4(AOC3):c.1198C>T (p.Arg400Cys)	AOC3 (R400C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253010	NM_003734.4(AOC3):c.1199G>A (p.Arg400His)	AOC3 (R400H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294388	NM_003734.4(AOC3):c.1201G>A (p.Gly401Arg)	AOC3 (G401R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781303	NM_003734.4(AOC3):c.1216T>A (p.Tyr406Asn)	AOC3 (Y406N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3300095	NM_003734.4(AOC3):c.1288T>C (p.Cys430Arg)	AOC3 (C430R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455880	NM_003734.4(AOC3):c.1316C>G (p.Pro439Arg)	AOC3 (P439R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777181	NM_003734.4(AOC3):c.1321C>T (p.Arg441Trp)	AOC3 (R441W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3127384	NM_003734.4(AOC3):c.1367C>T (p.Ala456Val)	AOC3 (A456V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2594243	NM_003734.4(AOC3):c.1373C>T (p.Thr458Met)	AOC3 (T458M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127385	NM_003734.4(AOC3):c.1508C>T (p.Ala503Val)	AOC3 (A503V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127386	NM_003734.4(AOC3):c.1522G>A (p.Gly508Arg)	AOC3 (G508R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127387	NM_003734.4(AOC3):c.1523G>A (p.Gly508Glu)	AOC3 (G508E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127388	NM_003734.4(AOC3):c.1541A>T (p.His514Leu)	AOC3 (H514L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454307	NM_003734.4(AOC3):c.1624G>A (p.Glu542Lys)	AOC3 (E542K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127390	NM_003734.4(AOC3):c.1681A>G (p.Arg561Gly)	AOC3 (R18G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782608	NM_003734.4(AOC3):c.1697G>A (p.Arg566Gln)	AOC3 (R23Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3300054	NM_003734.4(AOC3):c.1710G>T (p.Glu570Asp)	AOC3 (E27D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729247	NM_003734.4(AOC3):c.1725C>T (p.Ala575=)	AOC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788809	NM_003734.4(AOC3):c.1744G>A (p.Ala582Thr)	AOC3 (A582T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2388328	NM_003734.4(AOC3):c.1753C>T (p.Arg585Cys)	AOC3 (R42C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265980	NM_003734.4(AOC3):c.1802G>A (p.Arg601Gln)	AOC3 (R601Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520612	NM_003734.4(AOC3):c.1847C>T (p.Pro616Leu)	AOC3 (P616L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300043	NM_003734.4(AOC3):c.1907A>G (p.Gln636Arg)	AOC3 (Q93R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3300034	NM_003734.4(AOC3):c.1939G>A (p.Val647Ile)	AOC3 (V104I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2552333	NM_003734.4(AOC3):c.1966C>G (p.Pro656Ala)	AOC3 (P656A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360984	NM_003734.4(AOC3):c.1967C>A (p.Pro656His)	AOC3 (P113H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286004	NM_003734.4(AOC3):c.1996A>G (p.Asn666Asp)	AOC3 (N123D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3300084	NM_003734.4(AOC3):c.2001G>C (p.Glu667Asp)	AOC3 (E667D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2647806	NM_003734.4(AOC3):c.2097C>T (p.Asn699=)	AOC3	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2509945	NM_003734.4(AOC3):c.2117G>A (p.Arg706Gln)	AOC3 (R163Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2309297	NM_003734.4(AOC3):c.2177G>T (p.Arg726Leu)	AOC3 (R183L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3127392	NM_003734.4(AOC3):c.2227C>T (p.Pro743Ser)	AOC3 (P743S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2300947	NM_003734.4(AOC3):c.2260G>A (p.Ala754Thr)	AOC3 (A754T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	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: 73