ClinVar for MedGen (Select 87542) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256611	NM_005732.4(RAD50):c.1969+2dup	RAD50	Duplication (splice donor variant)	Familial cancer of breast	GUncertain significance
Select item 3254531	NM_000051.4(ATM):c.2639-10T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254530	NM_000051.4(ATM):c.3078-19A>G	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254529	NM_000051.4(ATM):c.3124C>T (p.Leu1042=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254528	NM_000051.4(ATM):c.6808-18A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254527	NM_000051.4(ATM):c.216A>G (p.Thr72=)	ATM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3254525	NM_000051.4(ATM):c.6096-16C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254524	NM_000051.4(ATM):c.681A>G (p.Ser227=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254522	NM_000051.4(ATM):c.3712T>C (p.Leu1238=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254520	NM_000051.4(ATM):c.1971T>C (p.Phe657=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254519	NM_000051.4(ATM):c.4761C>A (p.Pro1587=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254518	NM_000051.4(ATM):c.8439T>C (p.Phe2813=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254517	NM_000051.4(ATM):c.2125-11T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254516	NM_000051.4(ATM):c.497-16T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254513	NM_000051.4(ATM):c.8457C>T (p.Val2819=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254512	NM_000051.4(ATM):c.2634C>T (p.Thr878=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254510	NM_000051.4(ATM):c.7630-13T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254509	NM_000051.4(ATM):c.5763-8T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254508	NM_000051.4(ATM):c.5763-20T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254507	NM_000051.4(ATM):c.6007-13T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254506	NM_000051.4(ATM):c.6007-15T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254505	NM_000051.4(ATM):c.1803-16T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254504	NM_000051.4(ATM):c.4674G>T (p.Thr1558=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254503	NM_000051.4(ATM):c.4800A>G (p.Val1600=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254502	NM_000051.4(ATM):c.4797A>G (p.Ser1599=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254501	NM_000051.4(ATM):c.5499G>A (p.Val1833=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254500	NM_000051.4(ATM):c.5497-11G>A	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254499	NM_000051.4(ATM):c.1315C>T (p.Leu439=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254498	NM_000051.4(ATM):c.1236-16T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254497	NM_000051.4(ATM):c.5320-7T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254496	NM_000051.4(ATM):c.3154-8T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254495	NM_000051.4(ATM):c.7516-18T>C	ATM, C11orf65	Single nucleotide variant (non-coding transcript variant +1 more)	Familial cancer of breast	GLikely benign
Select item 3254494	NM_000051.4(ATM):c.3573A>G (p.Lys1191=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254493	NM_000051.4(ATM):c.3492T>C (p.Cys1164=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254492	NM_000051.4(ATM):c.3456T>C (p.Ser1152=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254491	NM_000051.4(ATM):c.7146A>G (p.Gly2382=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254490	NM_000051.4(ATM):c.7044G>C (p.Thr2348=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254489	NM_000051.4(ATM):c.6096-11T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254488	NM_000051.4(ATM):c.4050G>C (p.Thr1350=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254487	NM_000051.4(ATM):c.3994-12G>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254486	NM_000051.4(ATM):c.4110-7C>T	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254485	NM_000051.4(ATM):c.4269T>C (p.Cys1423=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254484	NM_000051.4(ATM):c.8585-13C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254483	NM_000051.4(ATM):c.2251-18T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254482	NM_000051.4(ATM):c.2454T>A (p.Ile818=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254458	NM_000051.4(ATM):c.2639-14C>T	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254457	NM_000051.4(ATM):c.8079A>G (p.Ala2693=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254456	NM_000051.4(ATM):c.3852A>G (p.Thr1284=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254455	NM_000051.4(ATM):c.3825T>C (p.Ile1275=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254454	NM_000051.4(ATM):c.6633T>C (p.Leu2211=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254453	NM_000051.4(ATM):c.45A>G (p.Leu15=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254451	NM_000051.4(ATM):c.7803T>C (p.Ala2601=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254450	NM_000051.4(ATM):c.7380A>G (p.Lys2460=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254449	NM_000051.4(ATM):c.1239A>G (p.Leu413=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 3254447	NM_000051.4(ATM):c.3285-6T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254445	NM_000051.4(ATM):c.1749T>C (p.Tyr583=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254444	NM_000051.4(ATM):c.5006-7T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254443	NM_000051.4(ATM):c.8011-13A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254440	NM_000051.4(ATM):c.5814T>C (p.Tyr1938=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254439	NM_000051.4(ATM):c.4044G>A (p.Leu1348=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254438	NM_000051.4(ATM):c.6877C>T (p.Leu2293=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254435	NM_000051.4(ATM):c.1987T>C (p.Leu663=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254433	NM_000051.4(ATM):c.2733T>C (p.Ala911=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254432	NM_000051.4(ATM):c.3327A>G (p.Lys1109=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254431	NM_000051.4(ATM):c.8786+8_8786+11delinsCTAC	ATM, C11orf65	Indel (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254430	NM_000051.4(ATM):c.73-16T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254429	NM_000051.4(ATM):c.4437-8T>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254428	NM_000051.4(ATM):c.4497T>C (p.Ser1499=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254427	NM_000051.4(ATM):c.4910-11del	ATM	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254425	NM_000051.4(ATM):c.2839-18del	ATM	Deletion (intron variant)	Familial cancer of breast	GBenign
Select item 3254424	NM_000051.4(ATM):c.3552A>G (p.Gly1184=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254423	NM_000051.4(ATM):c.2454T>C (p.Ile818=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254422	NM_000051.4(ATM):c.7927+8T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254421	NM_000051.4(ATM):c.6411C>T (p.Asp2137=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254420	NM_000051.4(ATM):c.332-12A>C	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254418	NM_000051.4(ATM):c.8835G>A (p.Leu2945=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254414	NM_000465.4(BARD1):c.1579_1580del (p.Gly527fs)	BARD1 (G508fs +3 more)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GPathogenic
Select item 3254411	NM_024675.4(PALB2):c.3255_3256delinsTT (p.Leu1085_Arg1086delinsPheTer)	PALB2	Indel (nonsense +1 more)	Familial cancer of breast	GPathogenic
Select item 3254403	NM_000051.4(ATM):c.2376_2376+1delinsTT	ATM	Indel (splice donor variant)	Familial cancer of breast	GLikely pathogenic
Select item 3254400	NM_000051.4(ATM):c.4dup (p.Ser2fs)	ATM (S2fs)	Duplication (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3254399	NM_000051.4(ATM):c.8279del (p.Leu2760fs)	ATM, C11orf65 (L2760fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3254396	NM_000051.4(ATM):c.4070del (p.Ser1357fs)	ATM (S1357fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3254393	NM_000051.4(ATM):c.8180_8184dup (p.Gln2729fs)	ATM, C11orf65 (Q2729fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3254389	NM_000465.4(BARD1):c.438del (p.Trp146fs)	BARD1 (W127fs +1 more)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GPathogenic
Select item 3254388	NM_024675.4(PALB2):c.3467_3468del (p.Asp1156fs)	PALB2 (D1063fs +10 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3254384	NM_000051.4(ATM):c.4113T>C (p.Asp1371=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254377	NM_000051.4(ATM):c.6976-2del	ATM, C11orf65	Deletion (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3254376	NM_024675.4(PALB2):c.1145_1146insGTTG (p.Ser382fs)	PALB2 (S362fs +2 more)	Insertion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3254362	NM_000051.4(ATM):c.3566delinsAC (p.Leu1189fs)	ATM (L1189fs)	Indel (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 3254358	NM_000051.4(ATM):c.7307+9del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254355	NM_000051.4(ATM):c.6573-17_6573-16insCCCT	ATM, C11orf65	Insertion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254352	NM_000051.4(ATM):c.6199-16_6199-15del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254351	NM_000051.4(ATM):c.72+8dup	ATM	Duplication (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254348	NM_000051.4(ATM):c.1845C>G (p.Leu615=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254345	NM_000051.4(ATM):c.6348-8del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254342	NM_000051.4(ATM):c.5625A>C (p.Arg1875=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254341	NM_000051.4(ATM):c.5055C>G (p.Thr1685=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign
Select item 3254339	NM_000051.4(ATM):c.2467-4del	ATM	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254338	NM_000051.4(ATM):c.8851-17A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254337	NM_024675.4(PALB2):c.1516del (p.Gln506fs)	PALB2 (Q211fs +2 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic

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