ClinVar for MedGen (Select 808167) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256158	NM_000179.3(MSH6):c.2561_2562delinsTT	MSH6 (K854M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063704	NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]	PMS2 (S523T +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691233	NM_000314.8(PTEN):c.545_546dup (p.Lys183Ter)	PTEN (K183* +1 more)	Duplication (nonsense +1 more)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2691231	NM_000535.7(PMS2):c.1535G>T (p.Gly512Val)	PMS2 (G201V +19 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691229	NM_024675.4(PALB2):c.2293_2294dup (p.Asp765fs)	PALB2 (D169fs +3 more)	Duplication (frameshift variant +1 more)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2691218	NM_000051.4(ATM):c.7197A>G (p.Gln2399=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer	GLikely benign
Select item 2691199	NM_000179.3(MSH6):c.636A>G (p.Thr212=)	MSH6	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 2691198	NM_000051.4(ATM):c.4627A>G (p.Lys1543Glu)	ATM (K1543E)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691157	NM_007194.4(CHEK2):c.1266_1267dup (p.Gly423fs)	CHEK2 (G202fs +4 more)	Duplication (frameshift variant)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2691156	NM_000051.4(ATM):c.2411T>G (p.Leu804Arg)	ATM (L804R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2691155	NM_004360.5(CDH1):c.164-7C>G	CDH1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691154	NM_032043.3(BRIP1):c.637del (p.His213fs)	BRIP1 (H213fs)	Deletion (frameshift variant)	Breast and/or ovarian cancer +2 more	GPathogenic/Likely pathogenic
Select item 2691153	NM_032043.3(BRIP1):c.2012del (p.Glu671fs)	BRIP1 (E671fs)	Deletion (frameshift variant)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2691152	NM_000059.4(BRCA2):c.8992T>G (p.Ser2998Ala)	BRCA2 (S1354A +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691151	NM_000059.4(BRCA2):c.8639C>A (p.Thr2880Lys)	BRCA2 (T1236K +3 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691150	NM_000059.4(BRCA2):c.8276T>C (p.Val2759Ala)	BRCA2 (V1115A +3 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691149	NM_000059.4(BRCA2):c.463A>C (p.Arg155=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer	GLikely benign
Select item 2691148	NM_007294.4(BRCA1):c.2372T>C (p.Leu791Pro)	BRCA1 (L495P +20 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +1 more	GUncertain significance
Select item 2691077	NM_000465.4(BARD1):c.1944A>G (p.Glu648=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +1 more	GLikely benign
Select item 2691050	NM_000465.4(BARD1):c.*8A>G	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2674181	NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)	PALB2 (K1005fs +8 more)	Indel (frameshift variant +1 more)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 2453934	NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)	ATM, C11orf65 (L1956fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2442991	NM_000051.4(ATM):c.5319+1_5319+10del	ATM	Deletion (splice donor variant)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2442990	NM_004360.5(CDH1):c.1316C>T (p.Ala439Val)	CDH1 (A439V)	Single nucleotide variant (5 prime UTR variant +2 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2442989	NM_004360.5(CDH1):c.383A>C (p.His128Pro)	CDH1 (H128P)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2442987	NM_000051.4(ATM):c.4151A>T (p.His1384Leu)	ATM (H1384L)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2442986	NM_000535.7(PMS2):c.2335G>C (p.Gly779Arg)	PMS2 (G378R +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 2442985	NM_032043.3(BRIP1):c.1626C>G (p.Ser542Arg)	BRIP1 (S542R)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2442977	NM_000179.3(MSH6):c.3680T>C (p.Ile1227Thr)	MSH6 (I1052T +14 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2442976	NM_000179.3(MSH6):c.3557-13_3557-12insG	MSH6	Insertion (intron variant)	Lynch syndrome +1 more	GLikely benign
Select item 2442964	NM_007294.4(BRCA1):c.3037G>C (p.Glu1013Gln)	BRCA1 (E1010Q +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2442955	NM_000059.4(BRCA2):c.6481_6489del (p.Asp2161_Gln2163del)	BRCA2	Deletion (inframe_indel +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2442876	NM_004360.5(CDH1):c.531+20G>C	CDH1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2442867	NM_000179.3(MSH6):c.4002-15_4002-10del	MSH6	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 2442866	NM_000179.3(MSH6):c.3383A>C (p.Tyr1128Ser)	MSH6 (Y1029S +14 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2442856	NM_002878.4(RAD51D):c.263+5GT[3]	RAD51D, RAD51L3-RFFL	Microsatellite (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 4 +1 more	GLikely benign
Select item 2442804	NM_000051.4(ATM):c.6347+30_6347+31del	ATM, C11orf65	Deletion (intron variant)	Breast and/or ovarian cancer	GLikely benign
Select item 2133968	NM_007294.4(BRCA1):c.3997del (p.Val1333fs)	BRCA1, LOC126862571 (V1286fs +21 more)	Deletion (frameshift variant +1 more)	Breast and/or ovarian cancer +1 more	GPathogenic/Likely pathogenic
Select item 2115066	NM_007194.4(CHEK2):c.445-4T>A	CHEK2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 2076041	NM_000059.4(BRCA2):c.6341del (p.Pro2114fs)	BRCA2 (P2114fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1802800	NM_000051.4(ATM):c.2922-9_2922-8del	ATM	Deletion (intron variant)	Breast and/or ovarian cancer +1 more	GBenign/Likely benign
Select item 1802741	NM_000535.7(PMS2):c.706-5_706-4dup	PMS2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1802702	NM_000179.3(MSH6):c.4002-13_4002-10del	MSH6	Deletion (intron variant)	Breast and/or ovarian cancer +1 more	GBenign/Likely benign
Select item 1791921	NM_000535.7(PMS2):c.2480T>C (p.Met827Thr)	PMS2 (M570T +28 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +1 more	GUncertain significance
Select item 1786330	NM_000535.7(PMS2):c.2127C>A (p.Phe709Leu)	PMS2 (F398L +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1785486	NM_000179.3(MSH6):c.2078A>C (p.Lys693Thr)	MSH6 (K518T +8 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1776748	NM_032043.3(BRIP1):c.1629-4C>A	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1772502	NM_032043.3(BRIP1):c.1430T>C (p.Leu477Ser)	BRIP1 (L477S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1767291	NM_000535.7(PMS2):c.952T>C (p.Tyr318His)	PMS2 (Y147H +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1760926	NM_000059.4(BRCA2):c.7862A>G (p.Tyr2621Cys)	BRCA2 (Y482C +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 1734936	NM_004360.5(CDH1):c.378G>C (p.Pro126=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1732640	NM_000179.3(MSH6):c.3557-5_3557-4del	MSH6	Deletion (intron variant)	Lynch syndrome +3 more	GBenign/Likely benign
Select item 1727465	NM_000179.3(MSH6):c.3090G>T (p.Lys1030Asn)	MSH6 (K1062N +9 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +1 more	GUncertain significance
Select item 1713223	NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)	ATM, C11orf65 (Y2124*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 1697939	NM_000249.4(MLH1):c.1039-8dup	MLH1	Duplication (intron variant)	Breast and/or ovarian cancer +2 more	GLikely benign
Select item 1697607	NM_007294.4(BRCA1):c.441+18CTT[8]	BRCA1	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 1692260	NM_000179.3(MSH6):c.3646+2del	MSH6	Deletion (splice donor variant)	Breast and/or ovarian cancer +1 more	GLikely pathogenic
Select item 1670841	NM_004360.5(CDH1):c.702T>C (p.Ala234=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +1 more	GLikely benign
Select item 1627870	NM_000249.4(MLH1):c.678-14C>A	MLH1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +1 more	GLikely benign
Select item 1619235	NM_004360.5(CDH1):c.1712-14G>A	CDH1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 1578601	NM_000051.4(ATM):c.2466+19T>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 1539119	NM_000179.3(MSH6):c.627+17A>T	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 1504232	NM_000051.4(ATM):c.6760C>T (p.His2254Tyr)	ATM, C11orf65 (H2254Y)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +1 more	GUncertain significance
Select item 1392867	NM_000059.4(BRCA2):c.5028T>A (p.Ser1676Arg)	BRCA2 (S1676R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1385087	NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly)	RAD51C (R319G)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +2 more	GUncertain significance
Select item 1381967	NM_058216.3(RAD51C):c.511G>A (p.Asp171Asn)	RAD51C (D171N)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +2 more	GUncertain significance
Select item 1346873	NM_000051.4(ATM):c.3993+6G>A	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +1 more	GUncertain significance
Select item 1329426	NM_000546.6(TP53):c.183T>C (p.Asp61=)	TP53	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer	GLikely benign
Select item 1329425	NM_000546.6(TP53):c.166G>T (p.Glu56Ter)	TP53 (E17* +1 more)	Single nucleotide variant (nonsense)	Breast and/or ovarian cancer +1 more	GLikely pathogenic OLikely oncogenic
Select item 1329424	NM_000535.7(PMS2):c.624A>G (p.Gln208=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1329423	NM_000455.5(STK11):c.543C>T (p.Asn181=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1329378	NM_000251.3(MSH2):c.1776G>T (p.Met592Ile)	MSH2 (M526I +1 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329377	NM_000249.4(MLH1):c.71T>G (p.Val24Gly)	MLH1 (V24G)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329376	NM_000051.4(ATM):c.3226C>G (p.Gln1076Glu)	ATM (Q1076E)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329365	NM_000051.4(ATM):c.1079A>C (p.Asp360Ala)	ATM (D360A)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329336	NM_000059.4(BRCA2):c.9289dup (p.Cys3097fs)	BRCA2 (C3097fs)	Duplication (frameshift variant)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 1329323	NM_024675.4(PALB2):c.3114-1G>C	PALB2	Single nucleotide variant (intron variant +1 more)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 1329322	NM_024675.4(PALB2):c.1424C>T (p.Ser475Leu)	PALB2 (S475L)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 1329296	NM_007294.4(BRCA1):c.5332_5332+6delinsT	BRCA1	Indel (splice donor variant +1 more)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 1329295	NM_007194.4(CHEK2):c.980A>T (p.Tyr327Phe)	CHEK2 (Y106F +3 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329262	NM_004360.5(CDH1):c.2199G>C (p.Arg733Ser)	CDH1 (R217S +3 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329261	NM_004360.5(CDH1):c.1937-6C>T	CDH1	Single nucleotide variant (intron variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GConflicting classifications of pathogenicity
Select item 1329260	NM_004360.5(CDH1):c.1388A>C (p.Glu463Ala)	CDH1 (E402A +1 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329196	NM_000059.4(BRCA2):c.3468dup (p.Glu1157Ter)	BRCA2 (E1157*)	Duplication (nonsense)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 1329144	NM_000051.4(ATM):c.137A>G (p.His46Arg)	ATM (H46R)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 1329105	NM_000051.4(ATM):c.974A>G (p.His325Arg)	ATM (H325R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 1320504	NM_000465.4(BARD1):c.157T>G (p.Cys53Gly)	BARD1 (C53G)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +3 more	GUncertain significance
Select item 1315003	NM_000051.4(ATM):c.332-7G>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1255697	NM_024675.4(PALB2):c.3483del (p.Phe1161fs)	PALB2 (F1161fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 1231970	NM_000179.3(MSH6):c.4002-12_4002-10del	MSH6	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1209911	NM_000051.4(ATM):c.1236-4_1236-3del	ATM	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1171868	NM_000051.4(ATM):c.7516-15T>G	C11orf65, ATM	Single nucleotide variant (non-coding transcript variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1158017	NM_032043.3(BRIP1):c.1836G>A (p.Leu612=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GLikely benign
Select item 1155117	NM_000249.4(MLH1):c.642C>T (p.Asp214=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 1152940	NM_000546.6(TP53):c.672+8T>G	TP53	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 1146906	NM_000249.4(MLH1):c.1959G>A (p.Leu653=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 1142652	NM_004360.5(CDH1):c.2220C>G (p.Pro740=)	CDH1	Single nucleotide variant (synonymous variant)	Hereditary diffuse gastric adenocarcinoma +2 more	GLikely benign
Select item 1134280	NM_000314.8(PTEN):c.253+7A>G	PTEN	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 1112593	NM_000249.4(MLH1):c.381-5A>G	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 1110743	NM_000059.4(BRCA2):c.6606T>C (p.Asp2202=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +2 more	GLikely benign

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