"GeneDx"[submitter] AND "MSH3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 157590	NC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGT	DHFR, MSH3	Insertion (intron variant)	not provided	GBenign
Select item 1243025	NC_000005.10:g.80654576del	DHFR, MSH3	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1230586	NC_000005.10:g.80654584C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259457	NM_002439.5(MSH3):c.-50C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1326029	NM_000791.4(DHFR):c.-197G>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1220684	NM_002439.5(MSH3):c.-39C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1237508	NM_002439.5(MSH3):c.-35A>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 663823	NM_000791.4(DHFR):c.-239T>A	DHFR, MSH3 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 650237	NM_000791.4(DHFR):c.-254G>A	DHFR, MSH3 (P6S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +4 more	GUncertain significance
Select item 778197	NM_000791.4(DHFR):c.-259C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 640943	NM_002439.5(MSH3):c.22T>C (p.Ser8Pro)	DHFR, MSH3 (S8P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 663065	NM_002439.5(MSH3):c.59G>A (p.Arg20Lys)	DHFR, MSH3 (R20K)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 765859	NM_000791.4(DHFR):c.-319G>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1419222	NM_002439.5(MSH3):c.124G>T (p.Gly42Cys)	DHFR, MSH3 (G42C)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 835733	NM_002439.5(MSH3):c.128C>T (p.Ala43Val)	DHFR, MSH3 (A43V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 771380	NM_000791.4(DHFR):c.-367T>C	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 842752	NM_002439.5(MSH3):c.130G>C (p.Ala44Pro)	MSH3, DHFR (A44P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 727279	NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala62_Pro63insAlaAlaAla)	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 769652	NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del)	DHFR, MSH3	Deletion (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 3368562	NM_002439.5(MSH3):c.166_167insAGGCCGCAGCGGCCGCAG (p.Ala55_Ala56insGluAlaAlaAlaAlaAla)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 778209	NM_000791.4(DHFR):c.-400A>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 718446	NM_000791.4(DHFR):c.-418GGCCGCTGC[3]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 790792	NM_000791.4(DHFR):c.-418GGCCGCTGC[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 3375794	NM_002439.5(MSH3):c.178_179insTCGCAGCGC (p.Ala60delinsValAlaAlaPro)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 771150	NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 635180	NM_000791.4(DHFR):c.-416C>G	MSH3, DHFR (A60P)	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 518369	NM_000791.4(DHFR):c.-425_-417dup	DHFR, MSH3	Duplication (5 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 1315751	NM_000791.4(DHFR):c.-437GGGGCGCTG[6]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 787823	NM_000791.4(DHFR):c.-437GGGGCGCTG[4]	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 778210	NM_000791.4(DHFR):c.-437GGGGCGCTG[5]	DHFR, MSH3	Microsatellite (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 725804	NM_000791.4(DHFR):c.-419C>G	DHFR, MSH3 (A61P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 717848	NM_000791.4(DHFR):c.-437GGGGCGCTG[1]	DHFR, MSH3	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 3367896	NM_002439.5(MSH3):c.190C>T (p.Pro64Ser)	DHFR, MSH3 (P64S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 402590	NM_000791.4(DHFR):c.-442_-434del	DHFR, MSH3	Deletion (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign
Select item 944557	NM_002439.5(MSH3):c.211_230dup (p.His78fs)	DHFR, MSH3 (H78fs)	Duplication (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1785719	NM_002439.5(MSH3):c.208G>C (p.Ala70Pro)	DHFR, MSH3 (A70P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 820736	NM_002439.5(MSH3):c.215C>T (p.Pro72Leu)	DHFR, MSH3 (P72L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 402591	NM_000791.4(DHFR):c.-473T>C	DHFR, MSH3 (I79V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 849780	NM_002439.5(MSH3):c.237+2T>C	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1261132	NM_002439.5(MSH3):c.237+76G>T	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294123	NM_002439.5(MSH3):c.237+249A>G	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281689	NM_002439.5(MSH3):c.238-196A>G	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292371	NM_002439.5(MSH3):c.238-76G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221301	NM_002439.5(MSH3):c.238-65C>G	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 650967	NM_002439.5(MSH3):c.287C>T (p.Pro96Leu)	MSH3 (P96L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 644426	NM_002439.5(MSH3):c.298A>G (p.Lys100Glu)	MSH3 (K100E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 664483	NM_002439.5(MSH3):c.316C>G (p.Gln106Glu)	MSH3 (Q106E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 653785	NM_002439.5(MSH3):c.331_333del (p.Ser111del)	MSH3 (S111del)	Deletion (inframe_deletion)	Endometrial carcinoma +2 more	GUncertain significance
Select item 659546	NM_002439.5(MSH3):c.334G>A (p.Asp112Asn)	MSH3 (D112N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 655708	NM_002439.5(MSH3):c.358+5G>A	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1267147	NM_002439.5(MSH3):c.358+40T>C	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251884	NM_002439.5(MSH3):c.358+76G>C	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246069	NM_002439.5(MSH3):c.358+76G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290686	NM_002439.5(MSH3):c.358+191C>G	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175506	NM_002439.5(MSH3):c.359-136T>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278026	NM_002439.5(MSH3):c.359-113A>G	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993467	NM_002439.5(MSH3):c.359-7G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663135	NM_002439.5(MSH3):c.394_395del (p.Lys132fs)	MSH3 (K132fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 662768	NM_002439.5(MSH3):c.421T>C (p.Cys141Arg)	MSH3 (C141R)	Single nucleotide variant (missense variant)	Endometrial carcinoma +2 more	GUncertain significance
Select item 943239	NM_002439.5(MSH3):c.508GAT[1] (p.Asp171del)	MSH3 (D171del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 662137	NM_002439.5(MSH3):c.553G>C (p.Asp185His)	MSH3 (D185H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 639536	NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)	MSH3 (R188C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 643818	NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)	MSH3 (Q192*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 1227682	NM_002439.5(MSH3):c.579+59G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261278	NM_002439.5(MSH3):c.579+106G>C	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250415	NM_002439.5(MSH3):c.579+107G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258756	NM_002439.5(MSH3):c.579+130C>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280424	NM_002439.5(MSH3):c.579+153C>T	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230925	NM_002439.5(MSH3):c.579+180G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243749	NM_002439.5(MSH3):c.579+250G>T	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246992	NM_002439.5(MSH3):c.579+288T>C	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294125	NM_002439.5(MSH3):c.580-181T>C	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292392	NM_002439.5(MSH3):c.580-141G>T	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 643090	NM_002439.5(MSH3):c.582C>G (p.Asp194Glu)	MSH3 (D194E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 643370	NM_002439.5(MSH3):c.586del (p.Thr196fs)	MSH3 (T196fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 663256	NM_002439.5(MSH3):c.587C>T (p.Thr196Ile)	MSH3 (T196I)	Single nucleotide variant (missense variant)	Endometrial carcinoma +2 more	GUncertain significance
Select item 1054278	NM_002439.5(MSH3):c.594T>G (p.Phe198Leu)	MSH3 (F198L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 644433	NM_002439.5(MSH3):c.653C>T (p.Ser218Phe)	MSH3 (S218F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 810935	NM_002439.5(MSH3):c.693G>A (p.Pro231=)	MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 662535	NM_002439.5(MSH3):c.709A>G (p.Ile237Val)	MSH3 (I237V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 964967	NM_002439.5(MSH3):c.754_759delinsATCTATACT (p.Cys252_Gly253delinsIleTyrThr)	MSH3	Indel (inframe_indel)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1288145	NM_002439.5(MSH3):c.792+50G>A	MSH3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244357	NM_002439.5(MSH3):c.792+69G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237148	NM_002439.5(MSH3):c.792+270A>T	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279325	NM_002439.5(MSH3):c.793-109G>C	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 859952	NM_002439.5(MSH3):c.803G>A (p.Arg268Gln)	MSH3 (R268Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 653029	NM_002439.5(MSH3):c.845C>T (p.Thr282Ile)	MSH3 (T282I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1704037	NM_002439.5(MSH3):c.859A>C (p.Thr287Pro)	MSH3 (T287P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 848843	NM_002439.5(MSH3):c.887G>T (p.Arg296Leu)	MSH3 (R296L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1292397	NM_002439.5(MSH3):c.909+79T>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292396	NM_002439.5(MSH3):c.909+92A>G	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245558	NM_002439.5(MSH3):c.909+151G>A	MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245349	NM_002439.5(MSH3):c.910-64C>T	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764111	NM_002439.5(MSH3):c.1028-5A>T	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 647621	NM_002439.5(MSH3):c.1088C>A (p.Thr363Asn)	MSH3 (T363N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 660099	NM_002439.5(MSH3):c.1122T>G (p.Asn374Lys)	MSH3 (N374K)	Single nucleotide variant (missense variant)	Endometrial carcinoma +2 more	GUncertain significance
Select item 2586080	NM_002439.5(MSH3):c.1124A>T (p.Lys375Met)	MSH3 (K375M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1798610	NM_002439.5(MSH3):c.1124A>G (p.Lys375Arg)	MSH3 (K375R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8738	NM_002439.5(MSH3):c.1148del (p.Lys383fs)	MSH3 (K383fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic OLikely oncogenic

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