List of variants in gene MYO7A reported as likely pathogenic by Invitae

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: 111

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)	rs375457812	0.00009
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)	rs397516322	0.00006
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)	rs756324342	0.00005
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)	rs782361954	0.00002
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)	rs111033219	0.00001
NM_000260.4(MYO7A):c.4569-1G>A	rs775792432	0.00001
NM_000260.4(MYO7A):c.5480+1G>A	rs749236379	0.00001
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)	rs1164918878	0.00001
NM_000260.4(MYO7A):c.5857-2A>G	rs1555107286	0.00001
NM_000260.4(MYO7A):c.5945-1G>A	rs1268984037	0.00001
NM_000260.4(MYO7A):c.849G>A (p.Met283Ile)	rs1280774223	0.00001
NC_000011.9:g.(?_76866933)_(76908663_?)dup
NC_000011.9:g.(?_76867696)_(76868060_?)dup
NC_000011.9:g.(?_76901732)_(76901925_?)del
NM_000260.4(MYO7A):c.1003+1_1003+33delinsCAGTGCCTTG	rs1952694787
NM_000260.4(MYO7A):c.1004-1G>A
NM_000260.4(MYO7A):c.1004-7C>G
NM_000260.4(MYO7A):c.1081-1G>C
NM_000260.4(MYO7A):c.1190C>G (p.Ala397Gly)
NM_000260.4(MYO7A):c.1190C>T (p.Ala397Val)
NM_000260.4(MYO7A):c.1200+1G>A	rs397516283
NM_000260.4(MYO7A):c.1201-2A>G
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)	rs1555069238
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val)	rs111033286
NM_000260.4(MYO7A):c.1666G>A (p.Gly556Ser)
NM_000260.4(MYO7A):c.1690G>A (p.Gly564Ser)
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT	rs1954226902
NM_000260.4(MYO7A):c.18+2T>A	rs564622720
NM_000260.4(MYO7A):c.19-1G>A	rs111033426
NM_000260.4(MYO7A):c.1935+2T>C
NM_000260.4(MYO7A):c.1936-2A>T	rs2135424366
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val)	rs1555078946
NM_000260.4(MYO7A):c.2003G>C (p.Arg668Pro)	rs368575149
NM_000260.4(MYO7A):c.2094+1G>A	rs111033404
NM_000260.4(MYO7A):c.2283-2_2293del	rs1555082041
NM_000260.4(MYO7A):c.2557C>A (p.Arg853Ser)
NM_000260.4(MYO7A):c.2586+1G>A	rs2135473984
NM_000260.4(MYO7A):c.2694+1G>A	rs1955083613
NM_000260.4(MYO7A):c.2905-1G>C	rs1171417339
NM_000260.4(MYO7A):c.2905-2A>C	rs782504358
NM_000260.4(MYO7A):c.2905-2A>G
NM_000260.4(MYO7A):c.3080T>C (p.Leu1027Pro)
NM_000260.4(MYO7A):c.3108+1G>A	rs2135495180
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.3285+1G>A
NM_000260.4(MYO7A):c.3285+1_3285+2insGCGGGG	rs2135499848
NM_000260.4(MYO7A):c.3376-1G>A	rs2135517143
NM_000260.4(MYO7A):c.3503+1_3503+12delinsC	rs2135518421
NM_000260.4(MYO7A):c.3503+2T>C
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)	rs1555090196
NM_000260.4(MYO7A):c.3545A>G (p.Asn1182Ser)
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr)	rs117966637
NM_000260.4(MYO7A):c.3631-1G>C	rs1555090885
NM_000260.4(MYO7A):c.3925-1G>T	rs2135574922
NM_000260.4(MYO7A):c.3935T>C (p.Leu1312Pro)
NM_000260.4(MYO7A):c.3979G>C (p.Glu1327Gln)	rs373169422
NM_000260.4(MYO7A):c.3981G>C (p.Glu1327Asp)	rs2135575577
NM_000260.4(MYO7A):c.399C>G (p.His133Gln)
NM_000260.4(MYO7A):c.4039C>G (p.Arg1347Gly)
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)	rs869312181
NM_000260.4(MYO7A):c.4323+1G>A
NM_000260.4(MYO7A):c.4324-1G>A	rs2135657252
NM_000260.4(MYO7A):c.4441+1G>A
NM_000260.4(MYO7A):c.4442-1G>A	rs1485456037
NM_000260.4(MYO7A):c.4442-1G>C	rs1485456037
NM_000260.4(MYO7A):c.4442-2A>C	rs111033337
NM_000260.4(MYO7A):c.4490G>T (p.Gly1497Val)	rs2135669847
NM_000260.4(MYO7A):c.4568+1G>A	rs1956849074
NM_000260.4(MYO7A):c.4569-2A>C	rs1956912294
NM_000260.4(MYO7A):c.471-1G>A	rs548172627
NM_000260.4(MYO7A):c.4814C>A (p.Ser1605Tyr)
NM_000260.4(MYO7A):c.4852+798_5673del
NM_000260.4(MYO7A):c.5043+1G>A
NM_000260.4(MYO7A):c.5043+1G>T	rs1555102147
NM_000260.4(MYO7A):c.5044-2A>G	rs1474868859
NM_000260.4(MYO7A):c.5168G>A (p.Arg1723Lys)
NM_000260.4(MYO7A):c.5169-2A>G	rs2135712224
NM_000260.4(MYO7A):c.5320T>C (p.Phe1774Leu)
NM_000260.4(MYO7A):c.5333T>C (p.Leu1778Pro)
NM_000260.4(MYO7A):c.5344G>A (p.Gly1782Ser)
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)	rs751242455
NM_000260.4(MYO7A):c.5398T>C (p.Phe1800Leu)
NM_000260.4(MYO7A):c.5471_5480+5del	rs1591479665
NM_000260.4(MYO7A):c.5480+2T>A	rs2135722358
NM_000260.4(MYO7A):c.5480+2T>C	rs2135722358
NM_000260.4(MYO7A):c.5637-1G>T	rs2135738753
NM_000260.4(MYO7A):c.5659C>T (p.Pro1887Ser)
NM_000260.4(MYO7A):c.5743-2A>G	rs752310721
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)	rs111033192
NM_000260.4(MYO7A):c.5857-1_5857delinsAT	rs2135757801
NM_000260.4(MYO7A):c.592+1G>C
NM_000260.4(MYO7A):c.593-1G>A
NM_000260.4(MYO7A):c.593-1del
NM_000260.4(MYO7A):c.593-2A>G	rs782186293
NM_000260.4(MYO7A):c.5943_5944+12del
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr)	rs397516325
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg)	rs2135762079
NM_000260.4(MYO7A):c.6050_6051+9del
NM_000260.4(MYO7A):c.6052-2A>G
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro)	rs770778096
NM_000260.4(MYO7A):c.6231G>C (p.Trp2077Cys)
NM_000260.4(MYO7A):c.6237+1G>A	rs1338605788
NM_000260.4(MYO7A):c.6238-1G>A	rs1957902751
NM_000260.4(MYO7A):c.6238-2A>G	rs1555109612
NM_000260.4(MYO7A):c.6238-2A>T	rs1555109612
NM_000260.4(MYO7A):c.6355-2A>G	rs1957972028
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)	rs1223784415
NM_000260.4(MYO7A):c.6558+1G>A
NM_000260.4(MYO7A):c.6558+1G>T
NM_000260.4(MYO7A):c.707T>A (p.Leu236Gln)
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)	rs797044491

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