List of variants in gene ATM reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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: 66

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.3993+1G>A	rs200196781	0.00002
NM_000051.4(ATM):c.3994-2A>G	rs587782276	0.00002
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.2467-2A>C	rs1555082050	0.00001
NM_000051.4(ATM):c.3078-1G>A	rs750663117	0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	rs730881389	0.00001
NM_000051.4(ATM):c.4437-1G>C	rs759520465	0.00001
NM_000051.4(ATM):c.72+1G>A	rs786204088	0.00001
NM_000051.4(ATM):c.-30-1G>T	rs869312754
NM_000051.4(ATM):c.1065+1G>T	rs201089102
NM_000051.4(ATM):c.1066-2A>T	rs1555069514
NM_000051.4(ATM):c.1607+1G>A	rs772926890
NM_000051.4(ATM):c.1783_1802+91del	rs1555072063
NM_000051.4(ATM):c.1803-2A>G	rs1057517358
NM_000051.4(ATM):c.1898+1G>T	rs758325274
NM_000051.4(ATM):c.1899-1G>A	rs1555073065
NM_000051.4(ATM):c.2251-1G>A	rs876659710
NM_000051.4(ATM):c.2251-4A>G	rs786202935
NM_000051.4(ATM):c.2376+1G>A	rs730881347
NM_000051.4(ATM):c.2377-2A>G	rs1057516553
NM_000051.4(ATM):c.2467-2A>G	rs1555082050
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA	rs786202148
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	rs786203054
NM_000051.4(ATM):c.2921+1G>C	rs587781558
NM_000051.4(ATM):c.2921+1G>T	rs587781558
NM_000051.4(ATM):c.2922-1G>T	rs1555084931
NM_000051.4(ATM):c.2922-50_2940del	rs1555084832
NM_000051.4(ATM):c.3023del (p.Ser1008fs)	rs2135553794
NM_000051.4(ATM):c.3077+1G>A	rs192810283
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	rs568461905
NM_000051.4(ATM):c.331+1G>A	rs1555055356
NM_000051.4(ATM):c.3402+1G>C	rs1565439606
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)	rs587776551
NM_000051.4(ATM):c.3577-1G>C	rs1057517226
NM_000051.4(ATM):c.3747-2A>G	rs1057517213
NM_000051.4(ATM):c.3994-1G>T	rs1057516238
NM_000051.4(ATM):c.3994-2A>C	rs587782276
NM_000051.4(ATM):c.4110-1G>A	rs1060501692
NM_000051.4(ATM):c.4236+1G>T	rs876660674
NM_000051.4(ATM):c.4436+2T>C	rs1555097898
NM_000051.4(ATM):c.4611+1del	rs1565461824
NM_000051.4(ATM):c.4612-3_4616del	rs773012957
NM_000051.4(ATM):c.4776+1G>T	rs771117943
NM_000051.4(ATM):c.4776+2T>A	rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del	rs762838462
NM_000051.4(ATM):c.4910-2A>T	rs1555103156
NM_000051.4(ATM):c.495_496+16del	rs1555059522
NM_000051.4(ATM):c.496+1G>C	rs876658500
NM_000051.4(ATM):c.496+5G>A	rs796051858
NM_000051.4(ATM):c.497-1G>C	rs778624615
NM_000051.4(ATM):c.497-1G>T	rs778624615
NM_000051.4(ATM):c.497-2661A>G	rs1591491477
NM_000051.4(ATM):c.5177+1G>C	rs1131691159
NM_000051.4(ATM):c.5177+5G>A	rs759373136
NM_000051.4(ATM):c.5319+2T>C	rs1555105842
NM_000051.4(ATM):c.5496+2_5496+5del	rs1565479572
NM_000051.4(ATM):c.5497-2A>G	rs786203796
NM_000051.4(ATM):c.5674+1G>T	rs1565482453
NM_000051.4(ATM):c.5675-2A>G	rs2083814855
NM_000051.4(ATM):c.5762+1G>T	rs869312756
NM_000051.4(ATM):c.72+2T>C	rs1591446206
NM_000051.4(ATM):c.901+1G>T	rs748840480
NM_000051.4(ATM):c.901+1_901+26del	rs1380265721
NM_000051.4(ATM):c.901+2T>C	rs1218815157
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)	rs1064797160
NM_000051.4(ATM):c.902-2A>T	rs2079877131

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