List of variants in gene ATP7B reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00025
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00014
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	rs762866453	0.00009
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	rs587783299	0.00006
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	rs541208827	0.00005
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	rs587783318	0.00004
NM_000053.4(ATP7B):c.1285+2T>A	rs759749626	0.00001
NM_000053.4(ATP7B):c.1946+6T>C	rs751287778	0.00001
NM_000053.4(ATP7B):c.2122-8T>G	rs193922102	0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)	rs372979339	0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	rs121907997	0.00001
NM_000053.4(ATP7B):c.2575+1G>C	rs766149114	0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)	rs774028495	0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)	rs193922104	0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	rs776300396	0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)	rs1033235740	0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	rs1555282316	0.00001
NC_000013.10:g.(52549305_52585422)_(52585631_?)del
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)	rs1057516940
NM_000053.4(ATP7B):c.2121+3A>G	rs1248002612
NM_000053.4(ATP7B):c.2356-2A>T
NM_000053.4(ATP7B):c.2388_2389del (p.Met796fs)	rs2139503242
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)	rs770020484
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)	rs2139209584
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	rs199623434
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)	rs1555287300
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)	rs753594031
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)	rs1566468816
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs)	rs1566468784
NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)
NM_000053.4(ATP7B):c.3412+1G>A	rs1957388064
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)	rs1566462533
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)	rs786204658
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)	rs1957151127
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer)	rs1957151787
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)	rs1375884723
NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs)
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)	rs1057516227
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs)	rs2138560807
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)	rs1566441447
NM_000053.4(ATP7B):c.4125-1G>C	rs1293549383
NM_000053.4(ATP7B):c.525del (p.Val176fs)	rs558037268
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)	rs911589273

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